AiPD: Autoinhibited Protein Database

Q86UK0

Gene name	ABCA12
Protein name	Glucosylceramide transporter ABCA12
Names	ATP-binding cassette sub-family A member 12, ATP-binding cassette transporter 12, ATP-binding cassette 12
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26154
EC number	7.6.2.1: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1643-1717 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1643-1717 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q86UK0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86UK0-F1	Predicted				AlphaFoldDB

1994 variants for Q86UK0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000422417 RCV002502566 CA2092660 rs201542666	44	R>W	Autosomal recessive congenital ichthyosis 4A [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs764100720 RCV001142155 RCV003163313	51	A>E	Congenital ichthyosis of skin Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA2092612 RCV001142154 rs371904475	94	R>H	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2092573 RCV002902608 rs267599201	129	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000224053 CA2092528 RCV002265699 rs149399707 RCV000300752	162	A>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002057658 RCV000335850 rs16853238 VAR_055473 CA2092489	199	W>C	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11890512 RCV000297205 COSM3695249 RCV001691956 CA2092455 VAR_055474	237	N>H	large_intestine Congenital ichthyosis of skin [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000401605 CA2092443 rs11890468 RCV000224471 VAR_055475	274	Q>R	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs886055613 CA10614109 RCV000350767	278	S>L	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000056334 CA10588336 rs11891778 RCV000255175 RCV000678039	287	R>*	Autosomal recessive congenital ichthyosis 4A Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000293566 CA2092437 VAR_055476 RCV000224893 rs11891778	287	R>G	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000397743 CA10614105 rs757610542	294	L>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs138402017 RCV000892148 RCV001139548 CA2092398	325	S>F	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA350450898 VAR_067075 rs1295935868 RCV000779304	345	T>P	Congenital ichthyosis of skin ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000513074 rs143513000 RCV001139546 CA2092331	381	V>L	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2092330 rs746315995 VAR_067076	387	S>N	ARCI4B [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs757602412 CA2092328 RCV000382008	389	A>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000325100 rs369251597 CA2092326	392	S>P	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs886055612 RCV000286072 CA10614263	396	L>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001137305 RCV000762318 rs189141015 CA2092304	408	S>P	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_084428	434	R>del	ARCI4B [UniProt]	Yes	UniProt
RCV001459964 rs113112835 RCV001196721 VAR_019597 CA2092239	459	S>T	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA10612790 RCV000263711 rs886055611	474	L>F	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM84688 RCV001464963 CA2092235 rs370640837 RCV000356196 VAR_062663	476	A>V	pancreas Congenital ichthyosis of skin a pancreatic ductal adenocarcinoma sample; somatic mutation [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2092217 RCV000370841 rs775951517	505	D>E	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001142065 rs1700579348 RCV002557021	505	D>V	Congenital ichthyosis of skin Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1700576165 RCV001142064	522	Q>P	Congenital ichthyosis of skin [ClinVar]	Yes	ClinVar dbSNP
CA2092187 RCV002057657 rs114651183 RCV000314403	542	V>A	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000224937 VAR_027444 rs16853149 RCV000392011 CA2092184	550	E>G	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000367792 CA2092149 rs144534912	581	D>E	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148979792 RCV000949890 RCV002494778 CA2092147 RCV001140217 RCV000247039	589	P>T	Autosomal recessive congenital ichthyosis 4A Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001140216 rs748402637 CA2092146	590	D>A	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs76979001 RCV000310782 RCV000251763 RCV000949673 CA2092107	631	R>Q	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1574984736 RCV000991372	640	L>missing	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinVar dbSNP
RCV003155165 RCV002487485 RCV000345632 RCV001358602 rs147218173 CA2092073	678	N>S	Autosomal recessive congenital ichthyosis 4A Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000400405 rs886055610 CA10614260	720	G>E	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001139442 CA350483662 rs547695393	735	T>I	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs202059558 CA10614259 RCV000284106	759	T>S	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001544487 rs7560008 CA2091993 VAR_027445 RCV000248760 RCV000319091 RCV001544488 RCV001675764	777	S>T	Autosomal recessive congenital ichthyosis 4A Autosomal recessive congenital ichthyosis 4B Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350483133 RCV001137200 rs1288749121	795	P>L	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000623273 rs147076551 CA2091970 RCV003106004	806	L>W	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA350479093 RCV000782414 rs1559141294	895	D>N	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000372818 RCV000427740 rs142196906 CA2091836	982	K>T	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748695468 RCV000277057 CA2091773 RCV002523112	1083	A>G	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_067077	1136	G>D	ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma [UniProt]	Yes	UniProt
RCV000782415 rs1559134341 CA350469103	1149	L>P	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001137198 CA2091726 RCV000762317 rs141077206	1161	M>L	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA252486 VAR_067078 rs267606622 RCV000002997	1179	G>R	Autosomal recessive congenital ichthyosis 4B ARCI4B [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_067079	1235	W>S	ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma [UniProt]	Yes	UniProt
RCV000623992 RCV003106005 CA2091652 rs199940403	1238	M>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001143752 rs764741924 CA2091633	1269	W>S	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000366001 CA10612785 rs199499787	1304	K>R	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes dbSNP
rs145178648 RCV001143749 RCV002070730 CA2091586	1317	M>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000255645 RCV000763068 rs28940269 VAR_019598 RCV000002989 CA252475	1380	N>S	Autosomal recessive congenital ichthyosis 4A ARCI4A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_019599 CA252474 rs28940268 RCV000002988	1381	G>E	Autosomal recessive congenital ichthyosis 4A ARCI4A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_084429	1385	T>del	ARCI4B; unknown pathological significance [UniProt]	Yes	UniProt
CA2091526 rs759223757 RCV002557017 RCV001141948	1388	I>M	Congenital ichthyosis of skin Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA2091515 RCV000390344 rs149610963 RCV000882144 RCV000435496	1409	I>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1699723370 RCV001141947	1415	T>P	Congenital ichthyosis of skin [ClinVar]	Yes	ClinVar dbSNP
RCV001141946 CA2091506 rs78964730	1417	R>Q	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs886055609 CA10614258 RCV000339494	1428	V>I	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs201123321 RCV001139326 CA2091499	1451	T>S	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA350461992 VAR_067080 rs1263698595	1494	I>T	ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_019600 COSM1016108 RCV000002991 rs28940270 CA252477	1514	R>H	Autosomal recessive congenital ichthyosis 4A Variant assessed as Somatic; 0.0 impact. endometrium ARCI4A [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
CA252478 VAR_019601 RCV000002992 rs28940271	1539	E>K	Autosomal recessive congenital ichthyosis 4A Variant assessed as Somatic; impact. ARCI4A [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV001139325 rs368513379 CA2091419	1554	G>R	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_067081 rs1457513156 CA350460905	1559	G>V	Variant assessed as Somatic; 0.0 impact. ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma [NCI-TCGA, UniProt]	Yes	ClinGen UniProt NCI-TCGA dbSNP gnomAD
CA2091356 rs146836452 RCV001139324 COSM1238081	1636	R>Q	oesophagus Congenital ichthyosis of skin [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC dbSNP gnomAD
rs886055608 RCV000278342 CA10612784 COSM1016106	1639	D>N	Variant assessed as Somatic; 0.0 impact. Congenital ichthyosis of skin endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
rs771800911 RCV001137080 CA2091345	1648	G>R	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000002990 CA252476 rs28940568 VAR_019602	1651	G>S	Autosomal recessive congenital ichthyosis 4A Variant assessed as Somatic; 0.0 impact. ARCI4A [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs387906285 RCV000002994	1671	N>missing	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinVar dbSNP
RCV001137079 rs757369005 CA2091321	1674	M>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002556913 rs147973580 RCV001137078 CA2091310	1696	D>N	Congenital ichthyosis of skin Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs112434185 CA10612395 RCV000293479	1785	G>A	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs191005935 RCV001137076 CA2091247	1794	A>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs137974203 RCV000328460 CA2091232	1796	Y>H	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001143648 COSM209937 VAR_067082 CA2091230 RCV002505718 rs181314573	1798	P>L	Autosomal recessive congenital ichthyosis 4A large_intestine Congenital ichthyosis of skin ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1020205670 CA64810761 RCV001143647	1827	N>S	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs151083083 CA2091195 RCV000382053 RCV002051702	1850	S>P	Autosomal recessive congenital ichthyosis 4B Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2091156 RCV001143645 rs114258385 RCV000224541	1873	V>I	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000360028 CA10614255 rs886055607	1878	T>N	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000754779 rs1559120651	1915	I>missing	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinVar dbSNP
CA2091092 RCV001141845 rs778296113	1950	R>Q	Variant assessed as Somatic; 0.0 impact. Congenital ichthyosis of skin [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
VAR_084430	1950	R>del	ARCI4B; unknown pathological significance [UniProt]	Yes	UniProt
CA350450008 VAR_067083 rs763858530	1980	T>K	ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
CA2090972 RCV000885704 RCV001139233 rs145980660	2070	V>I	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10612782 RCV000357340 rs10498027	2102	Y>*	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000393954 rs886055606 CA10614254	2119	V>G	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM231677 CA350446363 RCV000622533 rs1553520337	2155	G>D	skin Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA2090897 RCV001139230 rs750214847	2155	G>S	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs775733609 RCV001136976 CA2090894	2162	Q>K	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3391452 RCV001352680 RCV000002996 CA252483 RCV000413290 rs137853289	2204	R>*	Autosomal recessive congenital ichthyosis 4A Autosomal recessive congenital ichthyosis 4B pancreas [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
RCV001873537 RCV001136974 CA2090873 rs138995566	2204	R>Q	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000950646 RCV000400842 RCV000246321 rs145031776 CA2090851	2216	R>S	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001136972 rs368437712 CA2090847	2223	N>S	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000923091 RCV001136971 CA2090842 rs200553166	2232	D>G	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001136970 rs138504099 CA2090840	2235	E>A	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1559109911 RCV000779303	2245	E>missing	Congenital ichthyosis of skin [ClinVar]	Yes	ClinVar dbSNP
RCV001143548 RCV000955299 rs150196545 CA2090798	2307	I>V	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002054411 RCV002490301 rs726070 RCV000293292 RCV000250672 RCV000002995 CA252481 VAR_027449	2365	D>N	Autosomal recessive congenital ichthyosis 4A Autosomal recessive congenital ichthyosis 4B Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002559385 CA2090750 rs376611510 RCV001143546	2368	E>K	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000782417 CA2090699 rs764355087	2416	P>L	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001143545 COSM1405233 rs765289715 CA2090696	2422	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine Congenital ichthyosis of skin [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA2090692 RCV000782386 rs761068277	2426	R>Q	Autosomal recessive congenital ichthyosis 4B Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs771593783 RCV000782418 CA2090693	2426	R>W	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000002993 rs387906284 RCV000487023	2442	V>missing	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinVar dbSNP
COSM1405230 CA2090634 RCV000677681 rs199503269 RCV000480311 RCV002231097	2482	R>*	Autosomal recessive congenital ichthyosis 4B Variant assessed as Somatic; 0.0 impact. large_intestine Lamellar ichthyosis [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs747030042 CA2090626 RCV000381607	2499	T>N	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002523111 CA2090599 rs140033094 RCV000324777 COSM1016085	2533	A>T	oesophagus Congenital ichthyosis of skin endometrium [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs146834697 RCV000888409 CA2090597 RCV001141721	2544	T>I	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350792555 RCV000782387 rs1559098040	2558	L>P	Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002491597 rs199846944 RCV001198679 CA2090569	2572	Y>C	Autosomal recessive congenital ichthyosis 4A Autosomal recessive congenital ichthyosis 4B [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs145073937 CA65509672	2	A>S		No	ClinGen ESP TOPMed
rs755362627 CA2092704	5	F>S		No	ClinGen ExAC gnomAD
CA350795265 rs1368278327	6	H>D		No	ClinGen gnomAD
CA2092703 rs142742451	6	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466276574 CA350795236	10	I>V		No	ClinGen gnomAD
rs760099478 COSM3838538 CA2092700	12	V>G	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2092701 rs530049071	12	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1471499975 CA350795215	13	W>C		No	ClinGen gnomAD
CA2092699 rs772837712	13	W>R		No	ClinGen ExAC gnomAD
TCGA novel	16	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350795177 rs1249611591	19	V>I		No	ClinGen gnomAD
rs1000891502 CA65509671	23	P>L		No	ClinGen TOPMed
rs1459280885 CA350793291	26	T>A		No	ClinGen gnomAD
CA65506618 rs558868560	26	T>I		No	ClinGen 1000Genomes gnomAD
rs1459280885 CA350793290	26	T>S		No	ClinGen gnomAD
rs771024663 CA350793287	27	L>F		No	ClinGen ExAC gnomAD
CA2092668 rs771024663	27	L>I		No	ClinGen ExAC gnomAD
rs1444279503 CA350793279	28	V>D		No	ClinGen gnomAD
rs1248719496 CA350793269	30	I>L		No	ClinGen gnomAD
rs760914602 CA2092667	30	I>M		No	ClinGen ExAC gnomAD
CA350793265 rs1389443899	30	I>T		No	ClinGen gnomAD
rs201228799 CA2092666	34	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772136797 CA2092665	35	I>N		No	ClinGen ExAC gnomAD
rs905220557 CA65506617	35	I>V		No	ClinGen gnomAD
rs1395270858 CA350793221	36	I>N		No	ClinGen TOPMed
rs569665981 CA2092664	37	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1044089104 CA65506616	41	A>V		No	ClinGen gnomAD
CA2092661 rs201542666	44	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2092659 rs113648834	44	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs144977222 CA2092657	47	F>C		No	ClinGen ESP ExAC gnomAD
CA2092658 rs750031875	47	F>I		No	ClinGen ExAC gnomAD
CA2092655 rs751172507	50	T>A		No	ClinGen ExAC TOPMed gnomAD
CA65506614 rs865960292	50	T>N		No	ClinGen Ensembl
CA2092654 rs764100720	51	A>G		No	ClinGen ExAC gnomAD
rs764100720 CA350793053	51	A>V		No	ClinGen ExAC gnomAD
CA2092653 rs763023550	53	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1347480689 CA350458866	55	C>F		No	ClinGen gnomAD
rs1347480689 CA350458867	55	C>Y		No	ClinGen gnomAD
rs765091396 CA2092629	56	Y>C		No	ClinGen ExAC gnomAD
CA350458859 rs1157297244	56	Y>H		No	ClinGen TOPMed gnomAD
CA350458849 rs1415034950	57	L>F		No	ClinGen gnomAD
CA2092627 rs753638586	58	A>T		No	ClinGen ExAC TOPMed gnomAD
CA350458815 rs1384056841	59	P>L		No	ClinGen gnomAD
RCV000255481 CA2092626 rs767707248	60	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002509340 CA10588337 rs762065937 RCV000256128	60	R>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2092625 COSM1016140 rs762065937	60	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA350458793 rs537624286 CA2092624	61	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA350458742 rs1451946315	66	G>A		No	ClinGen gnomAD
CA500009 rs201526979	66	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762943882 CA2092623	67	F>Y		No	ClinGen ExAC gnomAD
TCGA novel CA64839457 rs1044186104	70	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1357633081 CA350458681	70	F>S		No	ClinGen gnomAD
CA2092622 rs776056801	71	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA2092621 rs375166827	73	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2092618 rs147793298	75	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA350458602 rs1350824739	75	L>I		No	ClinGen TOPMed gnomAD
rs1422297590 CA350458561	77	D>H		No	ClinGen gnomAD
CA350458522 rs1384227542	79	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs867066991 CA64839407	80	S>P		No	ClinGen Ensembl
CA350458467 rs1407730191	82	C>W		No	ClinGen TOPMed
rs777584048 CA2092616	84	D>E		No	ClinGen ExAC TOPMed gnomAD
CA350458445 rs1328002281	84	D>G		No	ClinGen TOPMed
TCGA novel	84	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350458434 rs1575019841	85	T>A		No	ClinGen Ensembl
rs1448948631 CA350458422	85	T>I		No	ClinGen TOPMed
rs1286189545 CA350458401	86	P>T		No	ClinGen TOPMed
rs1053028479 CA64839396	87	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2092615 rs757915875	89	P>A		No	ClinGen ExAC TOPMed gnomAD
CA350458284 rs1478354176	91	D>N		No	ClinGen gnomAD
TCGA novel	93	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092613 rs567588953	94	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs371904475 CA64839377	94	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA350458217 rs567588953	94	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs753639955 CA2092611	95	R>G		No	ClinGen ExAC gnomAD
CA2092610 rs766124165	97	G>R		No	ClinGen ExAC TOPMed gnomAD
rs755914590 CA2092609	98	I>T		No	ClinGen ExAC gnomAD
rs1293603044 CA350458127	99	D>H		No	ClinGen TOPMed gnomAD
rs140292194 CA2092606	100	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA64839338 COSM308744 rs868778584	100	D>N	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1443355635 CA350458066	101	A>E		No	ClinGen TOPMed
RCV001008253 rs1575019786	102	L>missing		No	ClinVar dbSNP
rs1189117620 CA350458043	102	L>P		No	ClinGen TOPMed
rs549020816 CA2092603	104	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	105	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350457178 rs1435311162	107	E>K		No	ClinGen TOPMed
rs1297124749 CA350457133	113	S>F		No	ClinGen TOPMed
rs974487474 CA64831587	113	S>P		No	ClinGen Ensembl
rs765181062 CA2092586	114	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2092583 rs767061614	116	D>G		No	ClinGen ExAC TOPMed gnomAD
rs141700130 CA2092584	116	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762596272 CA64831557	117	K>N		No	ClinGen Ensembl
CA2092582 rs761108924	118	D>N		No	ClinGen ExAC gnomAD
COSM1181204 CA2092581 rs148586447	119	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1161032815 CA350457094	119	S>R		No	ClinGen gnomAD
rs775549022 CA2092580	120	S>C		No	ClinGen ExAC gnomAD
rs775549022 CA350457092	120	S>G		No	ClinGen ExAC gnomAD
CA2092578 rs774076870	125	S>N		No	ClinGen ExAC TOPMed gnomAD
rs767982745 CA2092577	125	S>R		No	ClinGen ExAC gnomAD
rs779949281 CA2092575	126	T>I		No	ClinGen ExAC gnomAD
rs779949281 CA2092576	126	T>N		No	ClinGen ExAC gnomAD
TCGA novel	127	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769767110 CA2092574	127	Q>K		No	ClinGen ExAC gnomAD
rs1261622317 CA350457016	128	V>I		No	ClinGen gnomAD
rs780924472 CA2092572	131	R>G		No	ClinGen ExAC
rs757096575 CA2092571	132	R>S		No	ClinGen ExAC gnomAD
CA350456965 rs1187275343	133	H>N		No	ClinGen TOPMed
rs1396301806 CA350456919	137	A>S		No	ClinGen gnomAD
CA350456230 rs1367688199	139	V>I		No	ClinGen gnomAD
CA64829577 rs757533969	145	S>A		No	ClinGen TOPMed
rs1195918807 CA350456125	147	L>V		No	ClinGen gnomAD
CA350456107 rs570391377	148	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1261397555 CA350456112	148	E>K		No	ClinGen gnomAD
rs780244541 CA2092542	149	I>L		No	ClinGen ExAC gnomAD
rs1339437901 CA350456082	150	P>R		No	ClinGen gnomAD
CA2092541 rs756289119	150	P>S		No	ClinGen ExAC gnomAD
CA350456063 rs1325801072	151	G>A		No	ClinGen TOPMed gnomAD
rs768133744 CA2092539	151	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757546415 CA2092537	152	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1301504361 CA350456012	153	Y>C		No	ClinGen gnomAD
CA2092536 rs751999995	153	Y>H		No	ClinGen ExAC gnomAD
CA350455969 rs1209458945	154	T>N		No	ClinGen gnomAD
CA350455981 rs1265957885	154	T>P		No	ClinGen TOPMed
CA2092535 rs763618749	155	F>L		No	ClinGen ExAC
rs1559168251	155	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2092534 rs762552849	156	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1377871468 CA350455839	159	Q>*		No	ClinGen TOPMed
CA2092532 rs764668399	159	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA2092531 rs759051001	160	V>M		No	ClinGen ExAC TOPMed gnomAD
rs776430659 CA2092530	161	L>F		No	ClinGen ExAC gnomAD
TCGA novel	161	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350455826 rs1481610281	161	L>P		No	ClinGen gnomAD
rs192427187 CA64829416	162	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2092529 rs192427187	162	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350455792 rs1274429268	163	R>*		No	ClinGen TOPMed gnomAD
rs773100250 CA2092527	163	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772027208 CA2092526	164	I>V		No	ClinGen ExAC gnomAD
CA350455758 COSM209950 rs1283642196	165	L>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	165	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092524 rs780440452	168	E>G		No	ClinGen ExAC TOPMed gnomAD
CA350455655 rs1313215239	169	K>N		No	ClinGen TOPMed gnomAD
CA64829351 rs914860648	169	K>T		No	ClinGen Ensembl
rs199597021 CA2092504	173	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs781289173 CA2092503	173	Q>R		No	ClinGen ExAC gnomAD
rs1385303170 CA350454905	177	S>A		No	ClinGen gnomAD
CA350454895 rs1008693501	178	E>*		No	ClinGen gnomAD
CA350454888 rs1480233077	178	E>G		No	ClinGen TOPMed
CA64826916 rs1008693501	178	E>K		No	ClinGen gnomAD
CA64826913 rs771624564	179	D>V		No	ClinGen gnomAD
CA2092500 rs747491489	180	I>T		No	ClinGen ExAC gnomAD
COSM3426068 rs758756716 CA2092499	181	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2092498 rs758756716	181	R>G		No	ClinGen ExAC gnomAD
CA2092497 rs753119888	181	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1559166864 CA350454845	182	R>G		No	ClinGen Ensembl
CA350454826 rs1203600542	183	E>K		No	ClinGen gnomAD
CA350454800 rs1315737260	184	L>P		No	ClinGen TOPMed gnomAD
CA350454801 rs1318934406	184	L>V		No	ClinGen Ensembl
rs753464580 CA2092494	185	C>R		No	ClinGen ExAC TOPMed gnomAD
CA350454739 rs1575010599	187	S>R		No	ClinGen Ensembl
rs1208156771 CA350454715	189	S>L		No	ClinGen gnomAD
rs1357408923 CA350454700	190	G>E		No	ClinGen TOPMed gnomAD
rs865807517 CA64826878	190	G>R		No	ClinGen gnomAD
rs1357408923 CA350454708	190	G>V		No	ClinGen TOPMed gnomAD
CA64826862 rs772345029	191	Y>F		No	ClinGen Ensembl
CA64826869 rs929377203	191	Y>H		No	ClinGen TOPMed gnomAD
rs555229208 CA64826859	192	I>V		No	ClinGen Ensembl
rs142625793 CA2092491	194	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	195	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64826823 rs1037344885	196	A>T		No	ClinGen TOPMed gnomAD
CA350454561 rs866662919 CA64826811 COSM1405263	197	F>L	Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs375309525 CA2092490	197	F>V		No	ClinGen ESP ExAC gnomAD
CA350454548 rs1377714943	198	S>F		No	ClinGen TOPMed
CA350454544 RCV000732721 rs1187032187	199	W>*		No	ClinGen ClinVar dbSNP gnomAD
CA350454541 rs1187032187	199	W>L		No	ClinGen gnomAD
CA350454480 COSM395231 rs1488064062	203	G>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	203	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092488 rs774325904	205	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	208	N>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs949576201 CA64826761	209	K>E		No	ClinGen TOPMed gnomAD
RCV000483672 CA2092485 rs149882663	209	K>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA350454407 rs949576201	209	K>Q		No	ClinGen TOPMed gnomAD
rs747122599 CA2092483	214	N>K		No	ClinGen ExAC gnomAD
rs1559166761 CA350454354	214	N>S		No	ClinGen Ensembl
rs772617453 CA2092480	217	L>F		No	ClinGen ExAC gnomAD
CA350454320 rs1235016916	217	L>P		No	ClinGen TOPMed
CA350454306 rs1348778209	219	E>K		No	ClinGen gnomAD
CA350454262 rs1282345209	223	Q>L		No	ClinGen TOPMed
CA2092478 rs779209199	224	E>K		No	ClinGen ExAC gnomAD
CA2092477 rs753476988	225	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2092476 rs753476988	225	L>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092475 rs779582140	230	S>F		No	ClinGen ExAC gnomAD
rs1370536549 CA350453399	233	S>C		No	ClinGen gnomAD
CA350453386 rs1453216917	234	S>N		No	ClinGen gnomAD
rs1334407750 CA350453320	237	N>K		No	ClinGen TOPMed gnomAD
rs1280886092 CA350453301	238	N>I		No	ClinGen TOPMed
rs1280886092 CA350453304	238	N>S		No	ClinGen TOPMed
rs1281172945 CA350453122	245	E>A		No	ClinGen TOPMed
rs1465337450 CA350453104	245	E>D		No	ClinGen gnomAD
CA2092454 rs780798201	246	I>L		No	ClinGen ExAC gnomAD
CA64823090 rs371738215 COSM1181209	248	R>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs371738215 CA64823094	248	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs367861522 CA2092453	249	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575007574 CA350452949	252	F>C		No	ClinGen Ensembl
TCGA novel	252	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	253	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178102703 CA350452891	254	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs374932417 CA2092451	259	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374932417 CA2092450	259	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2092449 rs371506785	261	A>P		No	ClinGen ESP ExAC gnomAD
COSM1405261 CA2092448 rs766593903	261	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2092447 rs773446715	262	V>A		No	ClinGen ExAC gnomAD
CA2092446 rs773446715	262	V>G		No	ClinGen ExAC gnomAD
CA350452644 rs1307813743	265	L>F		No	ClinGen gnomAD
CA2092444 rs761888408	266	L>P		No	ClinGen ExAC TOPMed gnomAD
CA350452600 rs1384849984	267	S>C		No	ClinGen gnomAD
CA64823024 rs374520253	268	S>G		No	ClinGen ESP TOPMed gnomAD
rs1575007527 CA350452576	268	S>R		No	ClinGen Ensembl
CA350452517 rs1395447467	271	N>K		No	ClinGen gnomAD
rs1012153970 CA64823016	271	N>T		No	ClinGen TOPMed
CA350452509 rs1559164628	272	V>M		No	ClinGen Ensembl
TCGA novel	273	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350452397 rs1559164612	280	S>C		No	ClinGen Ensembl
CA2092441 rs749645751	280	S>N		No	ClinGen ExAC
CA350452375 rs1158072628	281	N>S		No	ClinGen gnomAD
rs1387204579 CA350452360	282	L>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2092439 rs543778192	283	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA64822986 rs543778192	283	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745456701 CA2092438	284	D>E		No	ClinGen ExAC gnomAD
rs1478413881 CA350452326	284	D>V		No	ClinGen gnomAD
rs193145048 CA2092436	287	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs554769668 CA2092420	291	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2092418 rs746485364	292	V>G		No	ClinGen ExAC gnomAD
rs375028789 CA2092419	292	V>M		No	ClinGen ESP ExAC gnomAD
rs777109238 CA2092417	293	L>P		No	ClinGen ExAC gnomAD
TCGA novel	297	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs918041879 CA64816783	297	Q>R		No	ClinGen Ensembl
CA350451735 rs1386308711	299	V>G		No	ClinGen gnomAD
CA2092414 rs778915456	300	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs754766935 CA2092413	301	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2092411 rs553945164 COSM3768943	302	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA64816753 rs992420630	302	R>H		No	ClinGen Ensembl
CA64816747 rs959604951	304	A>T		No	ClinGen Ensembl
CA2092409 rs751826071	305	T>I		No	ClinGen ExAC gnomAD
CA2092407 rs200024494	307	E>K		No	ClinGen ExAC TOPMed gnomAD
rs968153552 CA350451681	308	G>A		No	ClinGen TOPMed gnomAD
CA64816715 rs968153552	308	G>V		No	ClinGen TOPMed gnomAD
CA350451628 rs1252131739	316	V>D		No	ClinGen gnomAD
CA2092405 rs765900740	318	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2092406 rs753139272	318	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2092403 rs777175297	321	Y>C		No	ClinGen ExAC gnomAD
CA2092402 rs771454658	322	T>A		No	ClinGen ExAC gnomAD
CA350451594 rs771454658	322	T>P		No	ClinGen ExAC gnomAD
rs538976841 CA2092400	324	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2092401 rs760197218	324	D>G		No	ClinGen ExAC gnomAD
rs138402017 CA2092399	325	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2092396 rs202233394	326	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2092397 rs202233394	326	P>S		No	ClinGen ExAC TOPMed gnomAD
CA350451568 rs1305181762	327	A>S		No	ClinGen Ensembl
CA350451559 rs1446119870	328	Q>R		No	ClinGen Ensembl
rs917879487 CA64812674	332	D>N		No	ClinGen TOPMed gnomAD
rs1292681433 CA350450970	334	I>M		No	ClinGen gnomAD
rs200192565 CA2092365	335	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
COSM216548 CA64812670 rs200192565	335	T>R	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs767050275 CA2092363	336	H>Y		No	ClinGen ExAC gnomAD
rs187013643 CA2092362	337	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187013643 CA350450955	337	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350450958 rs1174439071	337	V>M		No	ClinGen TOPMed
CA350450922 rs1469800725	341	D>E		No	ClinGen TOPMed
CA350450928 rs1342817633	341	D>Y		No	ClinGen gnomAD
TCGA novel	344	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	347	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092361 rs774001956	347	S>T		No	ClinGen ExAC gnomAD
rs763523997 CA2092360	348	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200854433 CA64812608	350	S>G		No	ClinGen Ensembl
rs200854433 CA64812609	350	S>R		No	ClinGen Ensembl
CA350450861 rs1559157117	351	L>M		No	ClinGen Ensembl
CA2092358 rs775390147	353	A>T		No	ClinGen ExAC gnomAD
CA2092357 rs769817025	354	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA350449876 rs752243164	354	Q>H		No	ClinGen ExAC gnomAD
rs1331363735 CA350450842	354	Q>R		No	ClinGen TOPMed
rs1474461306 CA350449869	355	L>I		No	ClinGen TOPMed
CA2092339 rs759469135	357	I>M		No	ClinGen ExAC gnomAD
rs776447165 CA350449830	358	L>M		No	ClinGen ExAC TOPMed gnomAD
CA350449806 rs1411227548	359	E>G		No	ClinGen TOPMed
rs760615733 CA2092336	363	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	363	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353368441 CA350449690	364	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA350449673 rs1559154327	365	L>H		No	ClinGen Ensembl
rs1324769717 CA350449571	371	N>S		No	ClinGen gnomAD
rs1559154305 CA350449557	372	S>T		No	ClinGen Ensembl
CA350449551 rs1302929279	373	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2092335 rs774704088	374	Y>C		No	ClinGen ExAC gnomAD
CA64809289 rs866576735	376	P>S		No	ClinGen gnomAD
CA350449519 COSM145034 rs866576735	376	P>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA539525671 rs1179368008	377	Y>*		No	ClinGen gnomAD
rs1398052725 CA350449509	377	Y>H		No	ClinGen gnomAD
rs1360730938 CA350449485	379	A>T		No	ClinGen gnomAD
CA2092333 rs749351773	380	C>R		No	ClinGen ExAC TOPMed gnomAD
CA350449441 rs1407524828	383	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350449421 rs1157844363	385	T>A		No	ClinGen TOPMed gnomAD
rs201349856 CA64809248	385	T>I		No	ClinGen 1000Genomes
CA350449419 rs1157844363	385	T>S		No	ClinGen TOPMed gnomAD
CA350449400 rs1210883247	387	S>G		No	ClinGen TOPMed
rs779247356 CA2092329	389	A>T		No	ClinGen ExAC gnomAD
CA2092327 rs751968491	391	G>V		No	ClinGen ExAC TOPMed gnomAD
rs768608429 CA2092325	392	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350449346 rs1284289050	393	P>S		No	ClinGen TOPMed gnomAD
rs781706081 CA2092312	395	N>D		No	ClinGen ExAC gnomAD
TCGA novel	395	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350449260 rs1264887118	395	N>S		No	ClinGen TOPMed
TCGA novel	396	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350449236 rs1323442447	397	R>G		No	ClinGen gnomAD
CA350449221 rs1310268099	398	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350449223 rs1310268099	398	L>V		No	ClinGen gnomAD
rs1038255910 CA64808597	399	L>Q		No	ClinGen Ensembl
TCGA novel	400	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747544761 CA2092310	401	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350449153 rs1460500722	402	T>A		No	ClinGen TOPMed gnomAD
rs1179499950 CA350449145	402	T>I		No	ClinGen TOPMed
CA350449143 rs1358632830	403	I>L		No	ClinGen TOPMed gnomAD
rs1472501768 CA350449128	403	I>M		No	ClinGen TOPMed
CA2092308 rs758775276	403	I>T		No	ClinGen ExAC gnomAD
CA350449140 rs1358632830	403	I>V		No	ClinGen TOPMed gnomAD
CA350449124 COSM1129334 rs1458824013	404	R>*	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM256218 rs752328328 CA2092307	404	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	407	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	408	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	408	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350449040 rs1195388109	409	F>V		No	ClinGen gnomAD
rs766391032 CA2092303	410	L>V		No	ClinGen ExAC TOPMed gnomAD
rs774434795 COSM1684840 CA2092302	411	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2092301 rs768861556 COSM1243870	411	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768861556 CA2092300	411	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774434795 CA64808530	411	R>S		No	ClinGen ExAC TOPMed gnomAD
CA350449002 rs1263591496	412	N>H		No	ClinGen gnomAD
rs143862919 CA2092299	413	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs143862919 CA350448974	413	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318334426 CA350448957	414	S>F		No	ClinGen gnomAD
CA350448942 rs1294829369	415	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1338742744 CA350448857	419	F>L		No	ClinGen gnomAD
rs1313592114 CA350448829	420	P>L		No	ClinGen TOPMed gnomAD
rs1297612225 CA350448839	420	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350448810 rs1387395228	422	V>A		No	ClinGen gnomAD
rs1245953215 CA350448795	423	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1312238312 CA350448736	426	L>Q		No	ClinGen TOPMed
rs1457899545 CA350448679	428	S>*		No	ClinGen gnomAD
rs112586692 CA2092297	428	S>T		No	ClinGen ExAC TOPMed gnomAD
CA2092296 rs759626782	429	K>E		No	ClinGen ExAC gnomAD
CA64803962 rs1050854534	431	S>A		No	ClinGen gnomAD
rs769092601 CA2092253	431	S>C		No	ClinGen ExAC gnomAD
CA64803958 rs769092601	431	S>Y		No	ClinGen ExAC gnomAD
rs149243979 CA2092252	432	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350447993 rs1436550808	433	L>R		No	ClinGen TOPMed
RCV000255533 CA10588335 rs757520757	434	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs745415552 CA2092249	434	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	435	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs530511039 CA2092248	435	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2092245 rs562998767 COSM1016133	438	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1238540998 CA350447945	441	C>Y		No	ClinGen gnomAD
CA350447924 rs1285112959	444	E>G		No	ClinGen gnomAD
TCGA novel	444	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64803905 rs998945493	445	T>A		No	ClinGen TOPMed
CA2092243 rs757467606	445	T>I		No	ClinGen ExAC gnomAD
rs1400302823 CA350447910	446	F>L		No	ClinGen TOPMed gnomAD
rs1311880996 CA350447912	446	F>S		No	ClinGen TOPMed gnomAD
rs1343571747 CA350447904	447	S>N		No	ClinGen gnomAD
CA350447899 rs908833428	448	L>V		No	ClinGen TOPMed gnomAD
CA350447888 rs1156315295	449	I>R		No	ClinGen gnomAD
rs1414482761 CA350447863	453	C>R		No	ClinGen gnomAD
rs1164969338 CA350447854	454	Q>*		No	ClinGen gnomAD
CA2092241 rs760713161	454	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	454	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350447824 rs1265368298	458	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs971392004 CA64803869	458	M>R		No	ClinGen TOPMed gnomAD
rs971392004 CA350447826	458	M>T		No	ClinGen TOPMed gnomAD
CA350447796 rs1446542887	462	S>N		No	ClinGen gnomAD
rs1230587790 CA350447785	464	C>G		No	ClinGen TOPMed gnomAD
CA64803862 rs866784560	465	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs774923751 CA2092237	466	E>D		No	ClinGen ExAC gnomAD
rs776834147 CA2092238	466	E>K	Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350447746 rs1218797912	469	F>S		No	ClinGen gnomAD
rs374329275 COSM242708 CA64803804	475	E>K	pancreas Variant assessed as Somatic; impact. endometrium prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs370640837 CA350447700	476	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350447676 rs1559150148	480	G>D		No	ClinGen Ensembl
TCGA novel	480	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347565631 CA350447668	481	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2092230 RCV000434148 rs368135271	482	E>D		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2092231 rs150321357 COSM1016130	482	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs778035381 CA64803740	483	I>L		No	ClinGen gnomAD
rs765664543 CA64803715	486	S>G		No	ClinGen Ensembl
rs1191840064 CA350447641	486	S>N		No	ClinGen gnomAD
CA350447623 rs1574988335	488	L>P		No	ClinGen Ensembl
rs752527477 CA2092226	490	H>P		No	ClinGen ExAC gnomAD
CA2092224 rs756278470	492	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	493	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092223 rs750672071	494	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1319931606 CA350447550	495	S>P		No	ClinGen TOPMed
rs1275884429 CA350447541	496	K>E		No	ClinGen gnomAD
CA350447513 rs1221561588	497	K>N		No	ClinGen TOPMed
TCGA novel	498	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092222 rs573206836	499	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2092221 rs761962371	499	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1042369360 CA64803689	502	L>P		No	ClinGen Ensembl
rs764705646 CA350447460	503	T>A		No	ClinGen ExAC TOPMed gnomAD
rs764705646 CA2092219	503	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1478844185 CA350447448	504	G>E		No	ClinGen gnomAD
CA2092215 rs558176371	506	P>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	506	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092216 rs770316246	506	P>T		No	ClinGen ExAC gnomAD
rs776360822 CA2092214	507	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	510	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	512	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1422725762 CA350447358	513	M>V		No	ClinGen TOPMed
CA64803635 rs1050763378	515	Q>R		No	ClinGen TOPMed gnomAD
rs764107446 CA2092201	518	E>D		No	ClinGen ExAC gnomAD
CA350447255 rs1574988129	519	Q>P		No	ClinGen Ensembl
TCGA novel	522	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177022246 CA350447218	523	M>V		No	ClinGen gnomAD
CA350447181 rs1211885402	525	Y>*		No	ClinGen TOPMed
rs753042560 CA64803524	525	Y>C		No	ClinGen Ensembl
rs765641566 CA2092198	529	I>T		No	ClinGen ExAC gnomAD
CA350447140 rs1307407348	529	I>V		No	ClinGen TOPMed gnomAD
CA2092197 rs760037490	531	Q>*		No	ClinGen ExAC gnomAD
rs557461059 CA2092195	534	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2092193 rs760080854 COSM209946	534	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs557461059 CA2092194	534	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA64803452 rs535683489	536	I>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA2092190 rs748009183	536	I>V		No	ClinGen ExAC gnomAD
rs1413236836 CA350447034	538	A>G		No	ClinGen TOPMed gnomAD
CA350447041 rs1304794377	538	A>T		No	ClinGen gnomAD
rs1282819120 CA350447030	539	M>V		No	ClinGen TOPMed gnomAD
rs768422939 CA2092188	541	H>P		No	ClinGen ExAC gnomAD
rs1362539539 CA350446988	543	N>H		No	ClinGen gnomAD
rs372947208 CA2092186	543	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA350446978 rs1357607213	544	N>H		No	ClinGen TOPMed
rs983022148 CA64803419	545	S>C		No	ClinGen Ensembl
CA350446964 rs983022148	545	S>G		No	ClinGen Ensembl
CA350446929 rs1424747319	548	A>T		No	ClinGen gnomAD
rs1416496512 CA350446926	548	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs16853149 CA2092185	550	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777845219 CA2092183	552	P>T		No	ClinGen ExAC gnomAD
CA2092168 rs769483507	553	G>D		No	ClinGen ExAC gnomAD
rs886039296 CA10588334 RCV000255237	554	Q>*		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	554	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092167 rs778200334	554	Q>L		No	ClinGen ExAC gnomAD
CA2092166 rs778200334	554	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	555	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64802392 rs765497121	556	L>R		No	ClinGen Ensembl
TCGA novel	557	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748278007 CA2092164	558	M>K		No	ClinGen ExAC gnomAD
rs779540457 CA2092163	560	K>I		No	ClinGen ExAC
rs1426779001 CA350446756	561	N>D		No	ClinGen gnomAD
rs1324517984 CA350446743	563	E>K		No	ClinGen gnomAD
CA2092160 rs756445658	565	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2092159 rs756445658	565	L>R		No	ClinGen ExAC TOPMed gnomAD
rs767220429 CA2092157	567	E>D		No	ClinGen ExAC gnomAD
CA350446705 rs1460153707	568	D>G		No	ClinGen gnomAD
TCGA novel	568	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350446673 rs1247132596	572	T>I		No	ClinGen TOPMed
rs763629789 CA350446655 CA2092153	574	G>R		No	ClinGen ExAC TOPMed gnomAD
rs762884225 CA2092152	577	N>S		No	ClinGen ExAC gnomAD
rs1458044435 CA350446605	578	R>G		No	ClinGen gnomAD
CA2092151 rs775306915	578	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs901068191 CA64802340	578	R>S		No	ClinGen TOPMed gnomAD
rs1250789477 CA350446578	580	I>T		No	ClinGen gnomAD
TCGA novel	581	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350206726 CA350446515	586	I>T		No	ClinGen gnomAD
rs1480627821 CA350446483	589	P>R		No	ClinGen TOPMed gnomAD
CA350446470 rs1389284792	590	D>E		No	ClinGen gnomAD
TCGA novel	593	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376960143	594	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350486880 rs1422212596	600	F>S		No	ClinGen TOPMed
rs1163020303 CA350486868	601	W>*		No	ClinGen TOPMed
CA350486862 rs1574984891	601	W>C		No	ClinGen Ensembl
CA350486853 rs1488687600	603	H>R		No	ClinGen gnomAD
CA2092119 rs757635102	605	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs957187113 CA64848251	606	D>N		No	ClinGen gnomAD
rs1350331101 CA350486831	606	D>V		No	ClinGen gnomAD
rs1285174703 CA350486827	607	T>A		No	ClinGen gnomAD
rs1031635142 CA64848249	607	T>I		No	ClinGen Ensembl
CA2092118 rs368718192	609	I>T		No	ClinGen ESP ExAC gnomAD
rs1234696380 CA350486814	609	I>V		No	ClinGen gnomAD
rs777356785 CA2092117	612	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1346509916 CA350486774	615	E>D		No	ClinGen gnomAD
rs757896306 CA2092116	615	E>Q		No	ClinGen ExAC
CA2092115 rs577816562	616	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs761419441 CA2092113	618	M>V		No	ClinGen ExAC TOPMed gnomAD
rs373621720 CA64848187	619	K>T		No	ClinGen Ensembl
CA64848166 rs1018628909	623	N>K		No	ClinGen Ensembl
rs753830799 CA2092112	623	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2092111 rs766217327	624	L>V		No	ClinGen ExAC gnomAD
CA350486688 rs1297780210	625	S>F		No	ClinGen TOPMed
rs774708119 CA2092109	629	R>K		No	ClinGen ExAC TOPMed
CA350486624 rs1478187123	630	S>C		No	ClinGen gnomAD
CA2092108 rs751271500	631	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1446957551 CA350486611	632	Q>K		No	ClinGen gnomAD
CA2092105 rs769925420	634	Y>*		No	ClinGen ExAC gnomAD
rs939160638 CA64848118 COSM476876	634	Y>C	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1574984766 CA350486589	634	Y>H		No	ClinGen Ensembl
CA350486582 rs1235462279	635	L>F		No	ClinGen TOPMed
CA2092104 rs777182637	636	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2092102 rs372005106	637	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs777461228 CA2092100	642	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1429877880 CA350486433	645	N>K		No	ClinGen gnomAD
TCGA novel	647	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092098 rs757938932	648	N>S		No	ClinGen ExAC TOPMed gnomAD
CA350486384 rs1559147380	649	F>L		No	ClinGen Ensembl
TCGA novel	651	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350486357 rs1459667494	651	Y>H		No	ClinGen gnomAD
rs1393544271 CA350486337	652	K>Q		No	ClinGen gnomAD
CA2092081 rs773408991	654	F>C		No	ClinGen ExAC gnomAD
rs761193248 CA2092082	654	F>I		No	ClinGen ExAC gnomAD
TCGA novel	655	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199832696 CA64845104	655	F>S		No	ClinGen 1000Genomes
CA2092079 rs374169066	656	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350485070 rs1442426034	657	R>G		No	ClinGen gnomAD
TCGA novel	660	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	661	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	663	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	664	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64845057 rs949977440	664	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	665	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	671	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs890888881 CA64845049	671	I>V		No	ClinGen gnomAD
CA64845039 rs267599200	675	E>K		No	ClinGen Ensembl
CA2092074 rs756063219	676	I>L		No	ClinGen ExAC gnomAD
rs1441753767 CA350484745	677	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	678	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780796632 CA2092072	679	Q>H		No	ClinGen ExAC gnomAD
CA2092071 rs575786108	680	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2092070 rs190214194	680	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA350484718 rs1204306804	681	A>T		No	ClinGen TOPMed
CA350484707 rs1160531130	682	S>T		No	ClinGen gnomAD
TCGA novel	682	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765487567 CA2092069	683	G>S		No	ClinGen ExAC gnomAD
CA2092068 rs759590811	686	P>L		No	ClinGen ExAC TOPMed gnomAD
CA350484542 rs1258961315	689	D>H		No	ClinGen TOPMed gnomAD
rs766478614 CA2092066	690	K>E		No	ClinGen ExAC TOPMed gnomAD
rs766478614 CA350484519	690	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1574981953 CA350484511	690	K>R		No	ClinGen Ensembl
rs772308265 CA2092063	691	M>I		No	ClinGen ExAC gnomAD
CA2092065 rs761022454	691	M>L		No	ClinGen ExAC gnomAD
rs575097518 CA2092064	691	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2092062 rs148445044	693	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA64844951 rs148445044	693	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2092061 rs148445044	693	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2092060 rs768468414	696	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA539837748 rs1306036133	699	L>H		No	ClinGen gnomAD
rs1223383138 CA350484271	700	P>A		No	ClinGen gnomAD
CA64844946 rs946155285	700	P>R		No	ClinGen TOPMed
CA2092059 rs764239599	701	R>G		No	ClinGen ExAC TOPMed gnomAD
rs779667677 CA350484242	701	R>K		No	ClinGen ExAC gnomAD
CA2092058 rs779667677	701	R>T		No	ClinGen ExAC gnomAD
CA2092057 rs769445151	704	P>T		No	ClinGen ExAC TOPMed gnomAD
CA350484160 rs1455818266	705	L>V		No	ClinGen TOPMed gnomAD
rs781261858 CA2092055	707	Q>E		No	ClinGen ExAC gnomAD
rs756116447 CA2092028 COSM1016126	708	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1305898894 CA350483921	709	M>T		No	ClinGen gnomAD
CA2092026 rs757740804	710	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2092025 rs757740804	710	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA350483872 rs1442286746	712	S>G		No	ClinGen TOPMed gnomAD
CA2092022 rs763481375 RCV000256167	714	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA2092021 rs558822558	714	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764993449 CA2092020	717	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1174122105 CA350483767	719	Q>*		No	ClinGen TOPMed gnomAD
CA350483768 rs1174122105	719	Q>E		No	ClinGen TOPMed gnomAD
rs746892821 CA2092016	720	G>*		No	ClinGen ExAC gnomAD
CA350483759 rs886055610	720	G>A		No	ClinGen TOPMed gnomAD
CA350483761 rs746892821	720	G>R		No	ClinGen ExAC gnomAD
rs886055610 CA64844507	720	G>V		No	ClinGen TOPMed gnomAD
CA350483758 rs1438237311	721	S>P		No	ClinGen gnomAD
rs756710298 CA64844467	723	S>G		No	ClinGen Ensembl
rs773190443 CA2092015	723	S>N		No	ClinGen ExAC gnomAD
CA350483734 rs1559144924	724	T>S		No	ClinGen Ensembl
CA2092014 rs771847743	726	S>Y		No	ClinGen ExAC gnomAD
rs1559144905 CA350483712	728	A>T		No	ClinGen Ensembl
rs780226056 CA2092012	732	Q>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	733	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092011 rs377115874	734	I>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	735	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547695393 CA2092010	735	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350483660 rs1403619842	736	T>A		No	ClinGen TOPMed
TCGA novel	737	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092009 rs145499495 RCV000885136	737	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350483643 rs1330468122	738	Y>C		No	ClinGen gnomAD
rs1381350681 CA350483646	738	Y>D		No	ClinGen gnomAD
TCGA novel	739	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2092007 rs758863530	742	M>I		No	ClinGen ExAC TOPMed gnomAD
rs757295232 CA2092008	742	M>T		No	ClinGen ExAC TOPMed gnomAD
rs778466364 CA2092006	744	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2092004 rs758818623	748	R>K		No	ClinGen ExAC gnomAD
rs1389966044 CA350483570	750	K>E		No	ClinGen Ensembl
CA350483559 rs1365331501	751	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	752	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64844369 rs576619663	752	N>T		No	ClinGen Ensembl
rs1559144818 CA350483549	753	H>D		No	ClinGen Ensembl
TCGA novel	754	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372688749 CA2092002	756	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs372688749 CA2092001	756	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000485216 rs1064794286	758	L>missing		No	ClinVar dbSNP
rs1064794286	758	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1211645064 CA350483509	758	L>F		No	ClinGen gnomAD
rs139213311 CA2091999	761	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760243073 CA2091998	763	T>I		No	ClinGen ExAC TOPMed gnomAD
CA350483471 rs150763300	764	K>I		No	ClinGen ESP TOPMed gnomAD
rs150763300 CA64844283	764	K>T		No	ClinGen ESP TOPMed gnomAD
RCV000578837 rs772046102 CA350483459	766	Q>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs772046102 CA2091996	766	Q>K		No	ClinGen ExAC gnomAD
rs1010222082 CA64844252	767	I>N		No	ClinGen TOPMed
rs761761379 CA350483446	768	A>S		No	ClinGen ExAC TOPMed gnomAD
rs761761379 CA2091995	768	A>T		No	ClinGen ExAC TOPMed gnomAD
rs7560008 CA350483385	777	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000974943 CA2091992 rs138952646	777	S>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs7560008 CA350483386	777	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350483381 rs1300422214	778	T>A		No	ClinGen TOPMed
rs1574980540 CA350483318	779	P>L		No	ClinGen Ensembl
CA350483311 rs1475812105	780	F>V		No	ClinGen TOPMed gnomAD
rs896686220 CA64843490	784	L>V		No	ClinGen TOPMed gnomAD
CA2091978 rs761667655	788	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1574980520 CA350483189	790	N>I		No	ClinGen Ensembl
CA2091977 rs774167005 CA64843469	791	M>I		No	ClinGen ExAC TOPMed gnomAD
CA64843482 rs1039479122	791	M>L		No	ClinGen Ensembl
CA350483158 rs762700120	793	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2091975 COSM1016125 rs762700120	793	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1340933030 CA350483109	798	W>*		No	ClinGen gnomAD
CA64843432 rs747270085	800	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2091971 rs777933654	803	P>T		No	ClinGen ExAC gnomAD
CA350483036 rs1371386586	804	M>T		No	ClinGen gnomAD
CA350483025 rs1231856655	805	L>S		No	ClinGen TOPMed
CA350482984 rs1403525047	809	I>T		No	ClinGen gnomAD
CA350482979 rs1438493988	810	L>M		No	ClinGen gnomAD
rs779356956 CA2091968	811	Y>*		No	ClinGen ExAC gnomAD
rs1323211486 CA350482962	811	Y>F		No	ClinGen gnomAD
rs748676849 CA2091969	811	Y>H		No	ClinGen ExAC gnomAD
rs147869650 CA2091967	812	A>V		No	ClinGen ESP ExAC TOPMed
rs929643974 CA64843402	814	Y>C		No	ClinGen Ensembl
rs1167202157 CA350482935	814	Y>H		No	ClinGen gnomAD
rs780488664 CA2091965	815	N>K		No	ClinGen ExAC TOPMed gnomAD
CA64843379 rs992573770	817	V>F		No	ClinGen TOPMed gnomAD
rs992573770 CA350482902	817	V>L		No	ClinGen TOPMed gnomAD
rs750076104 CA2091963 COSM720069	818	T>A	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1345220946 CA350482892	819	K>Q		No	ClinGen gnomAD
CA350482875 rs1559144125	820	A>V		No	ClinGen Ensembl
rs766952649 CA2091962	821	I>T		No	ClinGen ExAC gnomAD
rs1204860620 CA350482850	823	E>Q		No	ClinGen gnomAD
TCGA novel	824	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192549886 CA350482831	824	K>T		No	ClinGen TOPMed
TCGA novel	825	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64841109 rs1054708322	825	S>F		No	ClinGen TOPMed gnomAD
rs958222658 CA64841108	826	N>S		No	ClinGen TOPMed
rs749832406 CA2091949	827	V>I		No	ClinGen ExAC TOPMed gnomAD
CA350481713 rs1203783013	828	T>S		No	ClinGen gnomAD
CA350481697 rs1485747167	830	R>G		No	ClinGen gnomAD
CA2091948 rs780325791	831	Q>P		No	ClinGen ExAC
CA350481666 rs1208650077	832	L>P		No	ClinGen gnomAD
rs745503625 CA350481656	833	A>E		No	ClinGen ExAC TOPMed gnomAD
rs745503625 COSM1181205 CA2091946	833	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350481601 rs1228326158	837	E>*		No	ClinGen TOPMed
CA64841072 rs369699212	840	Q>R		No	ClinGen ESP gnomAD
rs1286740846 CA350481550	841	E>Q		No	ClinGen gnomAD
rs1356248997 CA350481519	843	M>L		No	ClinGen gnomAD
rs756771290 RCV000255774 CA2091944	844	D>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1464994375 CA350481484	845	K>R		No	ClinGen gnomAD
CA2091943 rs750987657 COSM1243871	846	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	848	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091941 rs758206587	850	M>K		No	ClinGen ExAC TOPMed gnomAD
CA2091940 rs752694126	851	N>K		No	ClinGen ExAC gnomAD
rs765112462 CA2091939	852	S>P		No	ClinGen ExAC TOPMed gnomAD
CA350481372 rs759472663	854	H>N		No	ClinGen ExAC TOPMed gnomAD
CA2091938 rs759472663	854	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs200885515 CA64841004	859	A>E		No	ClinGen 1000Genomes
TCGA novel	859	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091936 rs767898296	861	P>L		No	ClinGen ExAC gnomAD
rs538991768 CA2091934	862	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs762115361 CA2091935	862	M>V		No	ClinGen ExAC TOPMed gnomAD
CA350479559 rs1376905811	866	T>I		No	ClinGen TOPMed
rs1036106693 CA350479554	867	L>V		No	ClinGen TOPMed
CA64838238 rs946651911	870	P>A		No	ClinGen Ensembl
rs145608321 CA2091913	871	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	871	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770239157 CA2091912	875	F>V		No	ClinGen ExAC gnomAD
CA350479418 rs1396190298	876	V>E		No	ClinGen gnomAD
rs940450327 CA64838219	878	F>L		No	ClinGen TOPMed
CA2091909 rs146002078	880	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2091910 rs146002078	880	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200973428 CA2091907	883	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350479240 rs1455466611	886	E>K		No	ClinGen gnomAD
rs1281582799 CA350479194	890	Q>E		No	ClinGen TOPMed
rs1348108787 CA350479178	890	Q>H		No	ClinGen TOPMed
CA2091905 rs747711303	891	I>T		No	ClinGen ExAC gnomAD
rs1238920542 CA350479143	892	D>G		No	ClinGen TOPMed
rs552554246	894	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	894	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350478737 rs1313353653	896	I>S		No	ClinGen gnomAD
CA350478716 rs1313091307	897	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	901	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350478622 rs1436530972	902	E>K		No	ClinGen gnomAD
rs1399748718 CA350478571	904	N>H		No	ClinGen gnomAD
rs962543573 CA64836222	905	I>T		No	ClinGen TOPMed
rs779270483 CA64836229	905	I>V		No	ClinGen Ensembl
rs1171750200 CA350478464	906	D>G		No	ClinGen gnomAD
rs767059932 CA2091882 COSM1016123	909	D>N	endometrium Variant assessed as Somatic; 9.274e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs139223000 CA2091880	915	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350478240 rs1200217658	915	S>P		No	ClinGen gnomAD
CA350478203 rs1226204442	918	T>S		No	ClinGen gnomAD
CA2091879 rs755831327	919	V>I		No	ClinGen ExAC gnomAD
rs989859116 CA64836180	924	C>*		No	ClinGen Ensembl
TCGA novel	924	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141142206 CA2091878	925	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091876 rs758551233	926	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1382564510 CA350478064	928	D>E		No	ClinGen gnomAD
CA2091874 rs765288755	929	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765288755 CA350478062	929	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2091873 rs755121638	929	R>H	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2091870 rs766961966	938	E>Q		No	ClinGen ExAC gnomAD
CA2091867 rs767996079	940	E>D		No	ClinGen ExAC gnomAD
CA2091868 rs149643123	940	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757141816 RCV001200445	942	E>missing		No	ClinVar dbSNP
rs1172401241 CA350477969	942	E>G		No	ClinGen TOPMed
TCGA novel	942	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761495344 CA350477961	943	A>G		No	ClinGen ExAC gnomAD
rs761495344 CA2091866	943	A>V		No	ClinGen ExAC gnomAD
rs1700146530 RCV001200444	945	R>missing		No	ClinVar dbSNP
TCGA novel	945	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091864 rs768276406	945	R>M		No	ClinGen ExAC gnomAD
rs200183227 CA64836109	945	R>S		No	ClinGen 1000Genomes
CA2091863 rs748846180	946	L>F		No	ClinGen ExAC gnomAD
rs1273477780 CA350477923	949	S>N		No	ClinGen gnomAD
CA350477908 COSM1016122 rs1353723813	951	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1383927267 CA350477902	952	L>F		No	ClinGen TOPMed
rs1383927267 CA350477901	952	L>V		No	ClinGen TOPMed
CA350477781 rs1295381101	955	S>N		No	ClinGen gnomAD
CA2091843 rs371260673	956	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA350477710 rs1438904116	958	F>L		No	ClinGen gnomAD
rs924398024 CA64835707	961	P>R		No	ClinGen Ensembl
CA64835708 rs935665803	961	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	964	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286163943 CA350477530	965	S>G		No	ClinGen TOPMed
rs1372931506 CA350477471	966	W>C		No	ClinGen gnomAD
CA350477502 rs1445052431	966	W>R		No	ClinGen TOPMed
rs150227342 CA64835704	967	H>Q		No	ClinGen ESP TOPMed gnomAD
rs1241747221 CA350477368	969	G>A		No	ClinGen TOPMed
CA2091840 rs151046618	969	G>S		No	ClinGen ESP ExAC
rs377702636 CA64835698	974	N>Y		No	ClinGen ESP TOPMed
rs1393327195 CA350477176	975	V>A		No	ClinGen TOPMed
rs1195598824 CA350477185 COSM1016121	975	V>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA64835691 rs1031056177	978	P>L		No	ClinGen TOPMed gnomAD
rs1000068243 CA64835682	980	V>I		No	ClinGen TOPMed gnomAD
CA2091838 rs768828324	981	I>T		No	ClinGen ExAC gnomAD
rs1410696443 CA350477030	981	I>V		No	ClinGen TOPMed
rs142196906 CA2091837	982	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2091835 rs532721548	982	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142196906 CA64835631	982	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350476892 rs1442589741	983	Y>C		No	ClinGen TOPMed
CA2091833 rs781774526	984	T>A		No	ClinGen ExAC gnomAD
CA350476850 rs1280509742	984	T>N		No	ClinGen gnomAD
CA2091831 rs116481578	986	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2091832 rs375702318	986	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs764583079 CA2091830	988	S>N		No	ClinGen ExAC TOPMed gnomAD
rs764583079 CA350476675	988	S>T		No	ClinGen ExAC TOPMed gnomAD
CA16604114 rs1057522516 RCV000423421	990	K>E		No	ClinGen ClinVar Ensembl dbSNP
rs1306652255 CA350476532	991	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1271982002 CA350476528	991	T>N		No	ClinGen TOPMed gnomAD
CA2091826 rs531373827	993	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA2091825 rs776531823	995	T>R		No	ClinGen ExAC gnomAD
CA2091824 rs770809344	997	S>R		No	ClinGen ExAC
CA350476259 rs1413170882	999	R>K		No	ClinGen gnomAD
rs371116369 CA2091823	1000	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs772922644 CA2091822	1000	T>I		No	ClinGen ExAC gnomAD
rs771774424 CA2091821	1001	K>T		No	ClinGen ExAC TOPMed gnomAD
CA350476187 rs1428937761	1002	I>M		No	ClinGen gnomAD
TCGA novel	1004	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249011809 CA350476109	1005	P>L		No	ClinGen TOPMed gnomAD
rs1027908871 CA64835514	1006	G>E		No	ClinGen TOPMed gnomAD
rs780203862 CA2091818	1009	N>S		No	ClinGen ExAC gnomAD
rs769886299 CA2091817	1011	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2091815 rs781442244	1012	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1013	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229254745 CA350475834	1014	N>D		No	ClinGen gnomAD
rs757797127 CA2091814	1014	N>S		No	ClinGen ExAC gnomAD
rs1286569225 CA350475776	1015	Q>H		No	ClinGen gnomAD
CA350475696 rs1227910174	1020	A>G		No	ClinGen gnomAD
CA2091813 rs752127267	1022	I>V		No	ClinGen ExAC gnomAD
rs778270086 CA2091812	1023	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs758756508 CA2091811	1026	D>A		No	ClinGen ExAC gnomAD
CA2091810 rs752363360	1026	D>E		No	ClinGen ExAC gnomAD
CA350475559 rs758756508	1026	D>G		No	ClinGen ExAC gnomAD
CA350475541 rs1320741554	1027	S>G		No	ClinGen gnomAD
CA2091809 rs764851518	1028	I>M		No	ClinGen ExAC TOPMed gnomAD
CA64835399 rs1003647220	1032	I>T		No	ClinGen Ensembl
rs747167462 CA64835428	1032	I>V		No	ClinGen gnomAD
rs754684869 CA2091808	1033	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1036	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091807 rs753308259 COSM1669734	1037	T>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA350475237 rs1161550353	1042	Q>K		No	ClinGen gnomAD
rs1162332520 CA350475211	1044	I>T		No	ClinGen TOPMed
rs201519307 CA2091806	1045	A>T		No	ClinGen 1000Genomes ExAC
CA350475206 rs1482770206	1045	A>V		No	ClinGen gnomAD
CA2091805 rs199738768	1047	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1465690800 CA350475180	1049	Q>L		No	ClinGen TOPMed
rs929797877 CA64835349	1050	A>T		No	ClinGen TOPMed gnomAD
rs1333928629 CA350475139	1053	Y>N		No	ClinGen TOPMed
TCGA novel	1054	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350475036 rs971190049 CA64835342	1057	M>I		No	ClinGen TOPMed
CA2091804 rs773188572	1060	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1064	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091779 rs759821107	1066	S>F		No	ClinGen ExAC TOPMed
CA2091778 rs777062783	1068	S>C		No	ClinGen ExAC gnomAD
rs1457018001 CA350472955	1071	I>T		No	ClinGen gnomAD
CA350472962 rs1291262764	1071	I>V		No	ClinGen gnomAD
CA350472908 rs1315829916	1074	M>R		No	ClinGen TOPMed
CA64832756 rs1026172091	1076	A>T		No	ClinGen Ensembl
rs1170486427 CA350472870	1076	A>V		No	ClinGen gnomAD
TCGA novel	1077	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244802743 CA350472825	1078	V>D		No	ClinGen TOPMed
rs772422192 CA350472767	1080	F>C		No	ClinGen ExAC TOPMed gnomAD
rs772422192 CA2091774	1080	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1209059999 CA350472702	1083	A>T		No	ClinGen TOPMed
rs373340066 CA2091772	1085	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs755391236 RCV000254841 CA10588333	1086	K>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs755391236 CA2091771	1086	K>E		No	ClinGen ExAC gnomAD
CA64832723 rs993737032	1087	K>N		No	ClinGen Ensembl
CA350472472 rs1490225950	1090	Y>C		No	ClinGen gnomAD
rs1340414383 CA350472367	1093	D>H		No	ClinGen gnomAD
TCGA novel	1093	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1565102 CA2091766 rs749885453	1095	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755595336 CA2091767	1095	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1040039032 CA64832683	1096	L>F		No	ClinGen TOPMed gnomAD
CA350469871 rs1301263662	1100	M>L		No	ClinGen gnomAD
CA350469859 rs1391622169	1100	M>R		No	ClinGen TOPMed
CA64827880 rs1025969996	1102	M>I		No	ClinGen Ensembl
CA350469738 rs1574967352	1106	N>T		No	ClinGen Ensembl
rs1469507056 CA350469720	1107	S>F		No	ClinGen gnomAD
CA350469712 rs1395109186	1108	C>R		No	ClinGen TOPMed
CA350469700 rs1267259740	1109	S>G		No	ClinGen gnomAD
CA350469659 rs1471687214	1111	F>L		No	ClinGen gnomAD
TCGA novel	1112	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64827847 rs896111870	1113	A>P		No	ClinGen Ensembl
rs1363727594 CA350469598	1116	I>M		No	ClinGen gnomAD
TCGA novel	1117	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350469576 rs1444433113	1118	S>N		No	ClinGen gnomAD
rs1254538656 CA350469569	1118	S>R		No	ClinGen gnomAD
rs777907152 CA2091742	1120	G>V		No	ClinGen ExAC gnomAD
CA350469500 rs1206278449	1122	L>S		No	ClinGen gnomAD
TCGA novel	1122	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs937745060 CA64827826	1126	I>L		No	ClinGen TOPMed gnomAD
rs752505079 CA350469442	1126	I>M		No	ClinGen ExAC gnomAD
CA64827781 rs968926710	1127	V>A		No	ClinGen TOPMed
rs192850308 CA2091739	1127	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1043901075 CA64827773	1128	I>V		No	ClinGen Ensembl
rs1435602971 CA350469355	1132	I>M		No	ClinGen gnomAD
rs750719102 CA2091737	1132	I>T		No	ClinGen ExAC gnomAD
rs1389644664 CA350469339	1134	K>E		No	ClinGen TOPMed gnomAD
CA350469328 rs1296996290	1134	K>N		No	ClinGen TOPMed
CA350469340 rs1389644664	1134	K>Q		No	ClinGen TOPMed gnomAD
CA2091736 rs143283411	1138	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398959634 CA350469203	1143	N>H		No	ClinGen gnomAD
TCGA novel	1145	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091732 rs763481154	1150	Y>C		No	ClinGen ExAC gnomAD
rs775765786 CA2091731	1151	F>Y		No	ClinGen ExAC gnomAD
CA2091730 rs753433213	1152	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350468956 rs1225638445	1155	S>N		No	ClinGen gnomAD
CA2091729 rs138115502	1156	F>L		No	ClinGen ESP ExAC
rs780940154 CA2091728	1157	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1158	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200630384 CA64827670	1160	A>T		No	ClinGen gnomAD
CA2091725 rs777457429	1161	M>I		No	ClinGen ExAC gnomAD
CA350468870 rs1291026411	1162	S>G		No	ClinGen gnomAD
rs375387283 CA2091724	1163	Y>C		No	ClinGen ESP ExAC gnomAD
rs1367105071 CA350468845	1165	I>T		No	ClinGen gnomAD
CA350468849 rs1253125134	1165	I>V		No	ClinGen TOPMed
rs778840406 CA2091722	1166	S>G		No	ClinGen ExAC gnomAD
rs1428916438 CA350468841	1166	S>N		No	ClinGen gnomAD
TCGA novel	1168	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218415551 CA350468767	1170	N>D		No	ClinGen gnomAD
rs1325890441 CA350468722	1171	N>T		No	ClinGen gnomAD
TCGA novel	1173	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144164334 CA2091720	1174	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091716 rs372141716	1182	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091717 rs751617602	1182	I>T		No	ClinGen ExAC TOPMed gnomAD
CA350468485 rs1430737478	1182	I>V		No	ClinGen gnomAD
CA2091715 rs763391523	1183	Y>C		No	ClinGen ExAC gnomAD
CA350468441 rs1336778748	1184	I>V		No	ClinGen TOPMed gnomAD
rs776033660 CA2091714	1185	I>V		No	ClinGen ExAC gnomAD
CA350468403 rs1200351896	1186	A>D		No	ClinGen gnomAD
rs1320113938 CA350468381	1187	F>C		No	ClinGen TOPMed
CA2091712 rs759996095	1188	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2091713 rs765557029	1188	F>L		No	ClinGen ExAC gnomAD
CA2091710 rs770579160	1191	I>T		No	ClinGen ExAC gnomAD
CA2091709 rs562957605	1193	L>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1197	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350468202 rs1273079157	1198	N>S		No	ClinGen TOPMed
CA64827475 rs933982961	1201	S>G		No	ClinGen gnomAD
rs1275724614 CA350468154	1201	S>T		No	ClinGen gnomAD
rs772794189 CA2091708	1203	V>I		No	ClinGen ExAC gnomAD
TCGA novel	1204	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091707 rs771767653	1205	K>I		No	ClinGen ExAC TOPMed gnomAD
CA350468097 rs1224778545	1205	K>Q		No	ClinGen TOPMed
rs748096708 CA2091706	1206	V>A		No	ClinGen ExAC TOPMed gnomAD
CA350468069 rs1411002556	1207	F>L		No	ClinGen TOPMed gnomAD
rs1273412296 CA350468055	1208	M>I		No	ClinGen TOPMed
CA350468058 rs1372985296	1208	M>T		No	ClinGen gnomAD
rs1574966375 CA350468035	1209	S>T		No	ClinGen Ensembl
CA2091685 rs779839539	1211	L>P		No	ClinGen ExAC TOPMed gnomAD
rs747227538 CA2091683	1212	S>P		No	ClinGen ExAC TOPMed gnomAD
CA2091684 rs747227538	1212	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1405700353 CA350468006	1214	T>I		No	ClinGen TOPMed gnomAD
rs1472975810 CA350467985	1217	S>R		No	ClinGen gnomAD
CA2091681 rs758642345	1218	Y>*		No	ClinGen ExAC gnomAD
CA350467983 rs1574966327	1218	Y>N		No	ClinGen Ensembl
rs80181772 CA2091677	1219	A>E		No	ClinGen ExAC TOPMed gnomAD
rs755458355 CA2091679	1219	A>P		No	ClinGen ExAC gnomAD
rs755458355 CA2091680	1219	A>S		No	ClinGen ExAC gnomAD
rs755458355 CA2091678	1219	A>T		No	ClinGen ExAC gnomAD
rs766765907 CA2091676	1223	I>V		No	ClinGen ExAC TOPMed gnomAD
CA350467937 rs1173722715	1225	R>*		No	ClinGen TOPMed
rs761166029 COSM3693889 CA2091675	1225	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA350467933 rs750074530	1226	Y>H		No	ClinGen ExAC gnomAD
CA2091674 rs750074530	1226	Y>N		No	ClinGen ExAC gnomAD
CA350467927 rs1286289900	1227	E>K		No	ClinGen gnomAD
CA350467877 rs1450977434	1230	G>D		No	ClinGen gnomAD
CA350467863 rs1320892569	1231	I>T		No	ClinGen gnomAD
CA2091671 rs773842446	1232	G>C		No	ClinGen ExAC gnomAD
CA64826598 rs960943801	1233	L>F		No	ClinGen TOPMed gnomAD
rs1423702442 CA350467757	1234	Q>H		No	ClinGen gnomAD
rs202043787 CA2091653	1234	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350467754 rs1390586488	1235	W>R		No	ClinGen gnomAD
rs775089329 CA2091651	1238	M>I		No	ClinGen ExAC TOPMed gnomAD
CA2091650 rs769679549	1239	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1239	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350467654 rs1488887601	1240	T>I		No	ClinGen gnomAD
CA350467641 rs776354159	1241	S>A		No	ClinGen ExAC gnomAD
CA2091648 rs776354159	1241	S>P		No	ClinGen ExAC gnomAD
rs770774395 CA2091647	1242	P>L		No	ClinGen ExAC TOPMed gnomAD
rs868391784 CA64826560	1242	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs774480561 CA2091645	1243	V>F		No	ClinGen ExAC gnomAD
rs1442790948 CA350467593	1244	Q>R		No	ClinGen gnomAD
rs768763187 CA2091644	1247	T>A		No	ClinGen ExAC gnomAD
rs749274841 CA2091643	1247	T>S		No	ClinGen ExAC gnomAD
CA2091642 rs780208894	1248	T>N		No	ClinGen ExAC gnomAD
VAR_027446 CA64826507 rs13414448	1251	G>D		No	ClinGen UniProt Ensembl dbSNP
rs746387226 CA2091640	1252	W>C		No	ClinGen ExAC gnomAD
CA350467475 rs1559133426	1252	W>R		No	ClinGen Ensembl
rs781679276 CA2091639	1255	C>Y		No	ClinGen ExAC gnomAD
CA64826491 rs1021941470	1256	L>Q		No	ClinGen Ensembl
rs751192243 CA2091637	1261	S>F		No	ClinGen ExAC TOPMed gnomAD
CA350467290 rs751192243	1261	S>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1262	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1263	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091636 rs143354105	1263	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA64826464 rs150667218	1265	F>S		No	ClinGen ESP TOPMed
CA350467175 rs1460326781	1266	L>H		No	ClinGen gnomAD
CA2091635 rs758102545	1267	I>T		No	ClinGen ExAC gnomAD
CA2091634 rs764741924	1269	W>*		No	ClinGen ExAC TOPMed gnomAD
rs759457954 CA2091632	1269	W>C		No	ClinGen ExAC gnomAD
CA64826435 rs776619888	1275	F>L		No	ClinGen ExAC TOPMed gnomAD
rs766259300 CA2091613	1278	T>A		No	ClinGen ExAC TOPMed gnomAD
rs760689102 CA2091612	1278	T>I		No	ClinGen ExAC gnomAD
rs767356346 CA2091610	1279	Y>F		No	ClinGen ExAC gnomAD
CA350465160 rs1335139515	1279	Y>H		No	ClinGen TOPMed gnomAD
CA350465149 rs775920671	1280	G>R		No	ClinGen ExAC TOPMed gnomAD
rs775920671 CA2091608 COSM252310	1280	G>S	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350465135 rs1179051041 COSM116413	1281	M>T	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA64825088 rs909963319	1281	M>V		No	ClinGen TOPMed
rs769961583 CA2091606	1283	A>G		No	ClinGen ExAC gnomAD
CA350465115 rs1574964652	1283	A>T		No	ClinGen Ensembl
rs759739308 CA2091605	1286	Y>D		No	ClinGen ExAC
CA350465045 rs1423599488	1288	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1469300726 CA350465050	1288	P>S		No	ClinGen gnomAD
rs940320570 CA64825059	1289	I>V		No	ClinGen Ensembl
rs112154579 CA64825057	1290	L>P		No	ClinGen Ensembl
rs753182258 CA2091603	1293	Y>C		No	ClinGen ExAC gnomAD
rs1452228678 CA350464973	1294	W>*		No	ClinGen gnomAD
CA2091602 rs747564999	1295	K>R		No	ClinGen ExAC gnomAD
CA2091601 rs777988487	1296	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2091600 RCV000255106 rs114863111	1297	R>*		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
COSM1016113 CA2091599 rs747728722	1297	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1298	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778589111 CA2091598	1298	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2091597 rs754652423	1299	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2091596 rs141932167	1301	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346407339 CA350464848	1301	A>V		No	ClinGen TOPMed
CA64824949 rs930092799	1302	E>D		No	ClinGen TOPMed
CA350464803 rs1574964557	1303	V>G		No	ClinGen Ensembl
CA2091595 rs370828016	1306	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1306	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755942510 CA2091594	1308	S>N		No	ClinGen ExAC gnomAD
CA2091593 rs750428836	1308	S>R		No	ClinGen ExAC TOPMed gnomAD
rs145517253 CA2091592	1309	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs752944722 CA2091590	1311	L>P		No	ClinGen ExAC gnomAD
CA350464661 rs1215287087	1311	L>V		No	ClinGen TOPMed
CA2091587 rs776794876	1312	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1380661286 CA350464625	1313	F>L		No	ClinGen TOPMed gnomAD
rs761084048 CA2091585	1318	M>L		No	ClinGen ExAC gnomAD
CA64824830 rs541798398	1318	M>R		No	ClinGen gnomAD
CA350464466 rs1162492605	1322	N>S		No	ClinGen gnomAD
rs772305847 CA2091583	1323	P>A		No	ClinGen ExAC gnomAD
CA350464458 rs772305847	1323	P>T		No	ClinGen ExAC gnomAD
CA350464427 rs1559132115	1325	A>S		No	ClinGen Ensembl
rs1439347894 CA350464258	1329	Y>C		No	ClinGen gnomAD
rs762316140 CA350464242	1330	M>K		No	ClinGen ExAC TOPMed gnomAD
CA2091565 rs762316140	1330	M>T		No	ClinGen ExAC TOPMed gnomAD
CA350464248 rs1275314216	1330	M>V		No	ClinGen TOPMed gnomAD
rs1338785644 CA350464208	1332	S>A		No	ClinGen gnomAD
CA350464186 rs1319684904	1333	S>F		No	ClinGen TOPMed
CA2091564 rs774635384	1335	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1225489859 CA350464156	1335	I>T		No	ClinGen gnomAD
rs1224688230 CA350464144	1336	E>K		No	ClinGen gnomAD
CA350464118 rs1324186071	1337	P>L		No	ClinGen TOPMed
rs1012310494 CA64823941	1339	P>S		No	ClinGen TOPMed gnomAD
CA350464075 rs1443306448	1341	D>V		No	ClinGen gnomAD
CA350464078 rs1283205096	1341	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2091562 rs748931097	1342	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1343	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091559 CA2091560 rs745333434 COSM573316	1345	G>R	lung Variant assessed as Somatic; 0.0 impact. liver [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA
CA2091554 rs758310335	1349	H>R		No	ClinGen ExAC gnomAD
rs1177729925 CA350464032	1349	H>Y		No	ClinGen gnomAD
CA350464012 rs1437446262	1352	T>I		No	ClinGen gnomAD
CA2091551 rs756325212	1354	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2091550 rs750455106	1355	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA350463992 rs750455106	1355	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs762291427 CA2091548	1358	K>E		No	ClinGen ExAC gnomAD
rs774902725 CA2091547	1359	V>F		No	ClinGen ExAC gnomAD
CA2091545 rs764933199	1361	V>A		No	ClinGen ExAC TOPMed gnomAD
rs373888250 CA2091544	1364	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1042675172 CA64823787	1366	L>M		No	ClinGen TOPMed
rs865860151 CA64823785	1368	F>V		No	ClinGen Ensembl
CA350463901 rs1559131451	1369	Y>C		No	ClinGen Ensembl
CA350463904 rs1467721623	1369	Y>H		No	ClinGen gnomAD
CA350463895 rs1553526002 RCV000578671	1370	E>*		No	ClinGen ClinVar Ensembl dbSNP
CA2091542 rs745512085	1371	G>A		No	ClinGen ExAC gnomAD
CA350463880 rs1159697608	1372	H>P		No	ClinGen gnomAD
CA64823776 rs945688014	1372	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA350463873 rs1402346056	1373	I>T		No	ClinGen gnomAD
TCGA novel	1375	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs922261255 CA64823755	1375	S>A		No	ClinGen TOPMed
rs770633067 CA2091540	1375	S>L		No	ClinGen ExAC TOPMed gnomAD
rs778581410 CA2091536	1387	T>I		No	ClinGen ExAC gnomAD
CA2091537 rs778581410	1387	T>S		No	ClinGen ExAC gnomAD
rs1481306724 CA350463063	1390	M>I		No	ClinGen gnomAD
CA350463070 rs1216549535	1390	M>V		No	ClinGen gnomAD
rs770545061 CA2091524	1392	T>I		No	ClinGen ExAC gnomAD
TCGA novel	1393	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760215508 CA2091523	1394	L>P		No	ClinGen ExAC gnomAD
TCGA novel	1404	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772071964 CA350462979 CA2091521	1404	V>L		No	ClinGen ExAC TOPMed gnomAD
rs369241074 CA2091518	1405	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs778751805 CA350462975	1405	Y>H		No	ClinGen ExAC gnomAD
rs778751805 CA2091519	1405	Y>N		No	ClinGen ExAC gnomAD
rs746068239 CA2091517	1407	K>R		No	ClinGen ExAC gnomAD
rs781439184 CA2091516	1408	D>E		No	ClinGen ExAC gnomAD
rs867017122 CA64817219	1408	D>N		No	ClinGen gnomAD
CA350462955 rs867017122	1408	D>Y		No	ClinGen gnomAD
COSM3962362 CA350462946 COSM3962363 rs1171413012	1409	I>M	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs751596949 CA2091514	1409	I>T		No	ClinGen ExAC gnomAD
CA350462926 rs1430333867	1412	D>V		No	ClinGen gnomAD
rs758882496 CA2091513	1414	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1324699120 CA350462916	1414	H>P		No	ClinGen TOPMed
rs758882496 CA2091512	1414	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs376792861 CA2091511	1415	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2091509 rs367680019	1416	V>I		No	ClinGen ESP ExAC gnomAD
rs367680019 CA64817175	1416	V>L		No	ClinGen ESP ExAC gnomAD
CA2091507 rs78964730	1417	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2091508 rs146331985	1417	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1255159894 CA350462876	1420	M>I		No	ClinGen TOPMed
CA64817132 rs545664709	1420	M>T		No	ClinGen 1000Genomes gnomAD
CA350462884 rs1305447061	1420	M>V		No	ClinGen gnomAD
rs1347315776 CA350462822	1424	M>T		No	ClinGen gnomAD
CA2091503 rs761801135	1427	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350462725 rs1353030443	1430	F>L		No	ClinGen gnomAD
rs1445854238 CA350462715	1430	F>L		No	ClinGen TOPMed
rs1170045794 CA350462673	1433	L>F		No	ClinGen gnomAD
rs1470383878 CA350462623	1436	K>R		No	ClinGen gnomAD
TCGA novel	1438	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350462580 rs1394478292	1439	L>V		No	ClinGen gnomAD
rs1432006234 CA350462521	1443	G>C		No	ClinGen gnomAD
rs1432006234 CA350462525	1443	G>S		No	ClinGen gnomAD
CA2091501 rs143198868	1445	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA350462478 rs1254400144	1446	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA64817080 rs988669740	1449	H>R		No	ClinGen Ensembl
rs748990418 CA2091500	1449	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1450	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479446618 CA350462414	1452	K>E		No	ClinGen gnomAD
rs556678641 CA2091498	1456	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144653752 CA64817071	1456	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2091496 rs777825870	1457	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1461	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1160728655 CA350462347	1461	R>T		No	ClinGen TOPMed
CA350462290 rs1199440244	1462	T>A		No	ClinGen gnomAD
TCGA novel	1462	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350462289 rs1199440244	1462	T>S		No	ClinGen gnomAD
rs1006910418 CA64816225	1465	D>V		No	ClinGen TOPMed
CA350462249 rs1559129128 COSM177689	1465	D>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1574960783 CA350462233	1466	T>I		No	ClinGen Ensembl
rs868304691 CA64816215	1467	G>R		No	ClinGen Ensembl
rs772359738 CA2091477	1469	Y>C		No	ClinGen ExAC gnomAD
rs1197185516 CA350462208	1469	Y>H		No	ClinGen TOPMed
CA2091476 rs371135059	1471	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091475 rs144220620	1471	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091474 rs755379562	1472	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2091473 rs377470191	1472	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2091472 rs202243117	1473	H>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2091470 rs750082413	1476	V>I		No	ClinGen ExAC gnomAD
CA2091469 rs767031878	1478	T>S		No	ClinGen ExAC gnomAD
rs888992711 CA64816167	1480	S>L		No	ClinGen Ensembl
CA2091468 rs756967498	1480	S>T		No	ClinGen ExAC gnomAD
rs373218038 CA2091467	1482	G>A		No	ClinGen ESP ExAC gnomAD
CA64816166 rs1049360560	1483	M>I		No	ClinGen Ensembl
rs763676072 CA2091466	1483	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1485	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2091465 rs762865220	1486	K>N		No	ClinGen ExAC gnomAD
CA350462039 rs1409776677	1487	L>*		No	ClinGen TOPMed
rs1456776232 CA350461995	1494	I>V		No	ClinGen TOPMed
TCGA novel	1497	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350461965 rs1203345345	1497	S>P		No	ClinGen gnomAD
CA350461941 rs1559129034	1498	R>S		No	ClinGen Ensembl
CA2091462 rs759276146	1498	R>W		No	ClinGen ExAC TOPMed gnomAD
rs776518775 CA2091460	1499	V>I		No	ClinGen ExAC gnomAD
CA64816139 rs776518775	1499	V>L		No	ClinGen ExAC gnomAD
rs983344742 CA64816135	1500	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1361855220 CA350461834	1505	P>L		No	ClinGen gnomAD
TCGA novel	1506	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs959959195 CA64816131	1506	S>T		No	ClinGen TOPMed
rs1574960656 CA350461813	1507	T>A		No	ClinGen Ensembl
rs1411535961 CA350461780	1509	V>A		No	ClinGen TOPMed
rs1282647981 CA350461789	1509	V>I		No	ClinGen gnomAD
rs1286395568 CA350461767	1510	D>G		No	ClinGen TOPMed
rs1266760446 CA350461712	1514	R>C		No	ClinGen TOPMed
CA2091458 rs748413124	1515	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2091457 rs774279263 COSM173977	1515	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2091456 rs768843124	1516	S>R		No	ClinGen ExAC
rs1353780476 CA350461659	1517	I>M		No	ClinGen TOPMed
CA64816101 rs867945120	1518	W>*		No	ClinGen Ensembl
CA2091455 rs749786163	1518	W>C		No	ClinGen ExAC TOPMed gnomAD
CA350461638 rs1304120379	1519	D>G		No	ClinGen gnomAD
CA350461297 rs1429840331	1527	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350461284 rs1201529935	1529	T>A		No	ClinGen gnomAD
CA2091438 rs369029381	1530	I>M		No	ClinGen ESP ExAC TOPMed
CA2091439 rs761934025	1530	I>N		No	ClinGen ExAC gnomAD
CA2091440 rs766252516	1530	I>V		No	ClinGen ExAC gnomAD
CA2091437 rs143000101	1531	I>M		No	ClinGen ESP ExAC TOPMed
rs775746978 CA2091435	1532	L>P		No	ClinGen ExAC gnomAD
COSM3391453 CA2091434 rs200407397	1534	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA64814940 rs981141420	1536	H>R		No	ClinGen TOPMed
rs771394858 CA2091432	1540	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2091431 rs771394858	1540	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2091430 rs146365586	1540	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091427 rs13401480 VAR_027447	1546	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA350461074 COSM209940 rs1274612827	1546	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2091426 rs540572488	1547	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2091425 rs754893598	1548	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776471573 CA2091422	1549	F>*		No	ClinGen ExAC
rs766053255 TCGA novel CA2091423	1549	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs371578156 CA2091421	1551	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA350461020 rs1463500622	1551	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs369985597 CA2091420	1552	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA350460988 rs1396197395	1553	G>C		No	ClinGen TOPMed
CA350460983 rs1338284064	1553	G>D		No	ClinGen TOPMed
CA64814875 COSM209939 rs998689781	1555	L>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA350460955 rs1240201376	1556	R>K		No	ClinGen TOPMed gnomAD
CA350460944 rs1308556639	1557	C>R		No	ClinGen TOPMed
rs1230288881 CA350460941	1557	C>Y		No	ClinGen TOPMed
CA350460921 rs1177032190	1558	C>F		No	ClinGen gnomAD
CA350460893 rs1244615706	1560	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	1561	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770058573 CA2091416	1563	Y>C		No	ClinGen ExAC gnomAD
CA350460825 rs1353315831	1565	K>N		No	ClinGen gnomAD
rs1028455057 CA64814840	1566	E>G		No	ClinGen TOPMed
rs537765994 CA64814843	1566	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA350460801 rs1182721018	1567	A>G		No	ClinGen TOPMed
CA2091411 rs773569314 COSM1641826	1570	D>N	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1190937513 CA350460723	1573	H>R		No	ClinGen TOPMed
CA2091409 rs747853247	1574	L>F		No	ClinGen ExAC gnomAD
rs778387070 CA2091408	1575	T>M		No	ClinGen ExAC TOPMed gnomAD
rs749155039 CA2091406	1578	K>E		No	ClinGen ExAC gnomAD
rs1402186019 CA350460684	1578	K>R		No	ClinGen TOPMed gnomAD
rs1171287989 CA350460336	1587	N>I		No	ClinGen TOPMed
CA64813880 rs1038720763	1589	V>E		No	ClinGen Ensembl
CA350460306 rs1574957684	1592	T>P		No	ClinGen Ensembl
CA2091383 rs781131695	1594	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs141196178 CA2091381	1595	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs143094635 CA2091380	1597	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091379 rs755159086	1599	I>F		No	ClinGen ExAC gnomAD
rs766425551 CA2091378	1600	Q>H		No	ClinGen ExAC gnomAD
rs1559126764 CA350460247	1600	Q>R		No	ClinGen Ensembl
CA350460227 rs1215880603	1601	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs761236798 CA2091376	1602	H>Q		No	ClinGen ExAC gnomAD
CA350460220 rs1338244499	1602	H>Y		No	ClinGen TOPMed gnomAD
rs144914898 CA2091374	1605	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774733088 CA2091373	1607	Y>C		No	ClinGen ExAC gnomAD
CA350460147 rs1291610036	1607	Y>N		No	ClinGen gnomAD
CA2091372 rs774733088	1607	Y>S		No	ClinGen ExAC gnomAD
CA350460133 rs1349575643	1608	L>F		No	ClinGen gnomAD
CA350460121 rs762529016	1609	K>E		No	ClinGen ExAC gnomAD
CA2091370 rs762529016	1609	K>Q		No	ClinGen ExAC gnomAD
CA350460115 rs1297128489	1609	K>R		No	ClinGen TOPMed
CA64813746 rs991229667	1611	D>G		No	ClinGen Ensembl
CA2091369 rs775054797	1611	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1193605029 CA350460064	1612	I>T		No	ClinGen TOPMed gnomAD
rs769256338 CA2091368	1612	I>V		No	ClinGen ExAC
rs745770941 CA2091367	1613	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350460011 rs1574957551	1616	L>I		No	ClinGen Ensembl
rs867644449 CA64813734	1617	V>L		No	ClinGen Ensembl
TCGA novel	1618	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771015402 CA2091365	1618	Y>H		No	ClinGen ExAC
rs1195792230 CA350459973	1619	V>I		No	ClinGen TOPMed gnomAD
CA350459969 rs1195792230	1619	V>L		No	ClinGen TOPMed gnomAD
rs1483223575 CA350459954	1620	L>F		No	ClinGen TOPMed
rs1487949860 CA350459916	1624	S>G		No	ClinGen gnomAD
CA64813692 rs566356723	1624	S>T		No	ClinGen 1000Genomes
CA2091364 rs553840038	1625	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA350459900 rs1224011868	1626	K>N		No	ClinGen TOPMed gnomAD
rs1315553295 CA350459905	1626	K>Q		No	ClinGen gnomAD
rs755213098 CA2091362	1626	K>R		No	ClinGen ExAC gnomAD
rs762624267 CA64813682	1627	V>D		No	ClinGen Ensembl
rs1476932207 CA350459892	1628	S>P		No	ClinGen TOPMed
CA2091361 rs754072368	1629	G>E		No	ClinGen ExAC gnomAD
CA350459866 rs780149203	1630	A>P		No	ClinGen ExAC gnomAD
CA2091360 rs780149203	1630	A>T		No	ClinGen ExAC gnomAD
rs926127626 CA64813655	1630	A>V		No	ClinGen Ensembl
rs756231455 CA2091359	1631	Y>C		No	ClinGen ExAC gnomAD
rs756231455 CA350459848	1631	Y>S		No	ClinGen ExAC gnomAD
rs377522776 CA64813643	1633	S>L		No	ClinGen ESP
CA2091357 rs181123698	1636	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2091354 rs764426968	1637	A>E		No	ClinGen ExAC TOPMed gnomAD
CA2091355 rs751866471	1637	A>T		No	ClinGen ExAC gnomAD
CA350459740 rs1358455923	1640	N>S		No	ClinGen TOPMed
CA2091352 rs146090036	1641	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1642	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759068959 CA2091351	1643	G>C		No	ClinGen ExAC gnomAD
rs759068959 CA2091350	1643	G>R		No	ClinGen ExAC gnomAD
rs776285022 CA2091349	1643	G>V		No	ClinGen ExAC gnomAD
CA64813589 rs202037826	1644	D>H		No	ClinGen TOPMed gnomAD
rs201850417 CA2091347	1645	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350459621 rs1203816981	1647	I>F		No	ClinGen gnomAD
rs996263108 CA64813546	1648	G>V		No	ClinGen gnomAD
rs749502032 CA2091344	1649	C>Y		No	ClinGen ExAC
CA2091343 rs199856299	1650	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA350459555 rs1221249387	1651	G>D		No	ClinGen TOPMed
CA2091341 rs781268223	1656	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2091339 rs201708455	1657	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1487347915 CA350459458	1658	E>K		No	ClinGen TOPMed
CA2091327 rs374790492	1665	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091326 rs142794443	1665	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs774203540 CA2091325	1666	K>E		No	ClinGen ExAC gnomAD
rs769950193 CA2091324	1667	E>K		No	ClinGen ExAC
rs1001567663 CA64813274	1670	K>R		No	ClinGen gnomAD
rs387906285	1671	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA64813207 rs201291268	1676	L>H		No	ClinGen gnomAD
CA350459157 rs201291268	1676	L>P		No	ClinGen gnomAD
rs747530265 CA2091317	1678	H>N		No	ClinGen ExAC gnomAD
CA2091315 rs372794722	1678	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs138875526 CA2091316	1678	H>R		No	ClinGen ESP ExAC gnomAD
rs1398517222 CA350459128	1681	Q>E		No	ClinGen gnomAD
CA350459126 rs1200595375	1681	Q>R		No	ClinGen TOPMed gnomAD
CA2091314 rs752945421	1682	K>R		No	ClinGen ExAC TOPMed
CA350459102 rs1324651600	1684	I>T		No	ClinGen gnomAD
CA350459105 rs1340339552	1684	I>V		No	ClinGen gnomAD
rs1406689344 CA350459099	1685	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs990843278 CA64813185	1687	S>P		No	ClinGen TOPMed
rs1388145414 CA350459076	1688	N>S		No	ClinGen gnomAD
rs766799047 CA64813168	1690	N>S		No	ClinGen Ensembl
rs1465746426 CA350459047	1692	I>M		No	ClinGen gnomAD
rs765754176 CA2091313	1693	S>L		No	ClinGen ExAC gnomAD
rs753583925 CA2091311	1695	P>H		No	ClinGen ExAC gnomAD
rs369801502 CA2091309 CA350459025	1696	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200752600 CA350459027	1696	D>G		No	ClinGen gnomAD
rs1265616723 CA350459022 COSM1691968	1697	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1265616723 CA350459023	1697	D>Y		No	ClinGen TOPMed gnomAD
COSM442281 rs767287642 CA2091307	1699	S>Y	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs184849830 CA64813154	1700	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	1700	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1422555023 CA350458988	1702	S>N		No	ClinGen TOPMed
rs774005738 CA2091305	1703	S>T		No	ClinGen ExAC TOPMed gnomAD
CA350458976 rs1303839472	1704	N>H		No	ClinGen TOPMed
rs1317860567 CA350458972	1704	N>S		No	ClinGen gnomAD
CA2091303 rs746062563	1707	D>G		No	ClinGen ExAC gnomAD
TCGA novel	1708	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs111356158 CA2091302	1709	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs556845354 CA2091291	1712	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2091289 rs767115394	1716	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1574955196 RCV001009281	1718	R>missing		No	ClinVar dbSNP
CA2091288 rs761656303	1720	D>G		No	ClinGen ExAC gnomAD
CA2091287 rs751542828	1721	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1445487352 CA350458770	1723	G>R	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs141343754 CA2091285	1726	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs775297820 CA2091284	1727	K>E		No	ClinGen ExAC gnomAD
rs1234910444 CA350458663	1728	K>T		No	ClinGen TOPMed
CA350458615 rs1354661204	1729	I>T		No	ClinGen gnomAD
CA2091281 rs773158992	1730	M>I		No	ClinGen ExAC
CA2091282 rs761014086	1730	M>T		No	ClinGen ExAC TOPMed gnomAD
rs371887153 CA2091279	1732	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs772233139 CA2091280	1732	I>R		No	ClinGen ExAC gnomAD
rs1232994666 CA350458491	1734	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1238530073 CA350458440	1735	K>N		No	ClinGen gnomAD
rs1212815346 CA350458430	1736	R>K		No	ClinGen TOPMed gnomAD
rs779509686 CA350458420	1736	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1737	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1574955114 CA350458418	1737	F>V		No	ClinGen Ensembl
CA2091277 rs769313978 CA350458360	1738	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1738	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64811855 rs960882854	1739	H>Y		No	ClinGen Ensembl
rs749595180 CA350458309	1740	T>I		No	ClinGen ExAC TOPMed gnomAD
rs749595180 CA2091276	1740	T>N		No	ClinGen ExAC TOPMed gnomAD
rs141036904 CA2091275	1741	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151239763 CA2091274	1741	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA350458209 RCV000627194 rs1553523093	1744	W>*		No	ClinGen ClinVar Ensembl dbSNP
CA2091273 rs750158906 CA350458183	1744	W>C		No	ClinGen ExAC TOPMed gnomAD
CA350458231 rs1238762651	1744	W>R		No	ClinGen gnomAD
CA350458115 rs780541179	1746	G>A		No	ClinGen ExAC gnomAD
rs780541179 CA2091272	1746	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2091271 rs756844578	1748	I>M		No	ClinGen ExAC TOPMed gnomAD
CA350458011 rs1358517048	1750	Q>H		No	ClinGen gnomAD
rs1421353204 CA350457920	1754	P>L		No	ClinGen TOPMed gnomAD
CA64811810 rs981032339	1755	I>T		No	ClinGen Ensembl
CA2091269 rs763979331	1755	I>V		No	ClinGen ExAC gnomAD
CA2091267 rs140745167	1756	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2091266 rs765144981	1758	V>A		No	ClinGen ExAC gnomAD
CA350457845 rs1183687701	1759	T>A		No	ClinGen gnomAD
CA2091264 rs183221504	1762	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2091265 rs183221504	1762	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1470778553 CA350457761	1763	G>S		No	ClinGen gnomAD
CA350457741 rs1234737377	1764	L>F		No	ClinGen gnomAD
CA350457048 rs1553523069	1766	T>I		No	ClinGen Ensembl
CA350457060 rs1194830303	1766	T>P		No	ClinGen gnomAD
CA350457020 rs1559124644	1768	R>S		No	ClinGen Ensembl
rs761940772 CA2091262	1771	S>R		No	ClinGen ExAC gnomAD
CA350456921 rs1196810789	1773	S>R		No	ClinGen gnomAD
CA2091261 rs774575248	1774	Y>*		No	ClinGen ExAC gnomAD
rs769224366 CA2091260	1775	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2091259 rs749871908	1775	P>L		No	ClinGen ExAC gnomAD
CA350456890 rs1226118396	1776	E>K		No	ClinGen gnomAD
TCGA novel	1778	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64811708 rs983549214	1778	Q>H		No	ClinGen TOPMed
rs1439471550 CA350456827	1781	P>S		No	ClinGen TOPMed
CA2091255 rs140464323	1782	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs140464323 CA2091254	1782	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091256 rs745488469	1782	S>P		No	ClinGen ExAC gnomAD
rs1313694734 CA350456810	1783	L>V		No	ClinGen gnomAD
rs1022249101 CA64811683	1784	Y>C		No	ClinGen Ensembl
rs112434185 CA64811670	1785	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs112434185 CA2091253	1785	G>V		No	ClinGen ExAC gnomAD
rs1430209894 CA350456772	1786	T>I		No	ClinGen gnomAD
CA2091251 rs758326051	1788	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs867634106 CA64811656	1789	Q>K		No	ClinGen Ensembl
CA2091249 rs752670106	1789	Q>L		No	ClinGen ExAC gnomAD
rs1259824998 CA350456717	1791	A>V		No	ClinGen TOPMed
rs892555844 CA350456692	1793	Y>C		No	ClinGen gnomAD
rs892555844 CA64811633	1793	Y>S		No	ClinGen gnomAD
TCGA novel	1797	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746723389 CA2091231	1798	P>A		No	ClinGen ExAC TOPMed gnomAD
rs746723389 CA350456544	1798	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2091229 COSM272281 rs541331115	1800	T>M	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1801	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM177207 CA350456500 rs1559123915	1802	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1298962385 CA350456470	1804	V>G		No	ClinGen gnomAD
CA64811137 rs961961731	1804	V>L		No	ClinGen Ensembl
RCV000521989 rs1553522866 CA350456460	1805	S>*		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1805	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260992156 CA350456438	1807	M>T		No	ClinGen TOPMed
rs1401852800 CA350456409	1809	D>H		No	ClinGen gnomAD
CA350456395 rs1370546207	1810	F>L		No	ClinGen gnomAD
CA64811125 rs374012400	1811	P>L		No	ClinGen ESP TOPMed
rs754873523 CA2091226	1811	P>S		No	ClinGen ExAC TOPMed gnomAD
rs112147786 CA2091225	1815	N>D		No	ClinGen ExAC gnomAD
rs757551848 CA2091223	1816	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350456309 rs1194866194	1816	M>T		No	ClinGen TOPMed
rs766141534 CA2091224	1816	M>V		No	ClinGen ExAC gnomAD
CA64811110 rs1023412357	1818	L>V		No	ClinGen Ensembl
rs1269551074 CA350456257	1819	N>K		No	ClinGen TOPMed
rs1488521068 CA350455992	1825	C>G		No	ClinGen gnomAD
COSM1016103 CA2091203 rs750268839	1826	L>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1054445578 CA64810755	1832	E>G		No	ClinGen TOPMed
rs1348831753 CA350455659	1835	N>I		No	ClinGen gnomAD
rs778106152 CA2091201 COSM1016101	1836	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs758698253 CA350455624	1836	T>I		No	ClinGen ExAC TOPMed gnomAD
rs758698253 CA2091200	1836	T>S		No	ClinGen ExAC TOPMed gnomAD
CA350455541 rs1415196032	1840	P>H		No	ClinGen TOPMed
CA350455544 rs1324019128	1840	P>S		No	ClinGen gnomAD
rs141427138 CA2091198	1841	I>V		No	ClinGen ESP ExAC TOPMed
rs760085882 CA2091197	1842	T>A		No	ClinGen ExAC TOPMed gnomAD
rs867510574 CA64810729	1845	G>C		No	ClinGen Ensembl
rs1341477145 CA350455345	1848	S>F		No	ClinGen TOPMed gnomAD
rs754348711 CA2091196	1848	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1341477145 CA350455350	1848	S>Y		No	ClinGen TOPMed gnomAD
CA350455330 rs151083083	1850	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091193 rs371568600	1853	V>I		No	ClinGen ESP ExAC gnomAD
rs1459045233	1854	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752516308 CA2091169	1855	E>Q		No	ClinGen ExAC gnomAD
rs1213146856 CA350453908	1857	P>S		No	ClinGen gnomAD
CA2091167 rs538567282	1859	F>C		No	ClinGen ExAC gnomAD
rs538567282 CA2091168	1859	F>S		No	ClinGen ExAC gnomAD
CA2091166 rs745858876	1862	S>C		No	ClinGen ExAC gnomAD
rs191670598 CA2091165	1864	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1631819 rs191670598 CA64808943	1864	P>Q	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA64808951 rs1017624297	1864	P>S		No	ClinGen TOPMed
rs746841334 CA2091163	1865	H>Y		No	ClinGen ExAC gnomAD
CA2091162 rs765417438	1866	R>G		No	ClinGen ExAC gnomAD
rs1385987870 CA350453775	1868	T>S		No	ClinGen TOPMed gnomAD
CA2091159 rs749307994	1870	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2091158 rs377028845	1871	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA64808871 rs183271581	1875	Y>S		No	ClinGen 1000Genomes
CA2091154 rs757517407	1876	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2091152 rs372494095	1878	T>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	1879	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265030338 CA350453649	1879	G>R		No	ClinGen gnomAD
COSM1243867 CA350453637 rs1180230600	1880	Q>K	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs775127288 COSM3938901 CA2091150 COSM3938902	1881	R>*	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2091149 rs764908376	1881	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs759517593 CA2091148	1882	V>A		No	ClinGen ExAC gnomAD
CA350453603 COSM226040 rs1384514228	1883	E>K	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1240208336 CA350453583	1884	N>T		No	ClinGen gnomAD
rs1279229101 CA350453589	1884	N>Y		No	ClinGen gnomAD
rs770930932 CA2091146	1885	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA350453555 rs1277289582	1886	L>P		No	ClinGen gnomAD
rs560838579 CA64808831	1887	I>V		No	ClinGen 1000Genomes gnomAD
rs1432691208 CA350453519	1889	T>S		No	ClinGen TOPMed gnomAD
rs1260587580 CA350453418	1896	K>N		No	ClinGen TOPMed
CA350453051 rs1366719136	1902	S>R		No	ClinGen TOPMed gnomAD
CA64808249 rs1051805154	1903	F>L		No	ClinGen TOPMed gnomAD
rs776284997 CA2091124	1906	P>L		No	ClinGen ExAC gnomAD
CA350452708 rs1574950182	1910	D>A		No	ClinGen Ensembl
rs766170236 CA2091123	1910	D>E		No	ClinGen ExAC gnomAD
CA350452724 rs1474526074	1910	D>H		No	ClinGen gnomAD
CA2091122 rs144770649	1912	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs771938625 CA2091121	1912	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2091120 rs771938625	1912	R>L		No	ClinGen ExAC TOPMed gnomAD
CA64808230 rs139632435	1914	D>H		No	ClinGen ESP
CA2091117 rs373276045	1916	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350452516 rs373276045	1916	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2091116 rs745885549	1918	V>A		No	ClinGen ExAC gnomAD
CA350452465 rs1559120631	1919	P>S		No	ClinGen Ensembl
CA64808217 rs545629635	1920	A>D		No	ClinGen ExAC gnomAD
rs545629635 CA2091115	1920	A>V		No	ClinGen ExAC gnomAD
CA350452438 rs1278525433	1921	N>D		No	ClinGen gnomAD
CA2091114 rs188297861	1922	R>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1922	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747619901 CA2091113	1923	T>S		No	ClinGen ExAC gnomAD
rs1359157674 CA350452350	1925	A>V		No	ClinGen TOPMed
CA2091100 rs767463595	1928	W>R		No	ClinGen ExAC gnomAD
RCV000276997 CA2091099 rs761557390	1929	Y>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	1932	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769946342 CA2091097	1934	Y>C		No	ClinGen ExAC gnomAD
CA350451969 rs1334486494	1935	H>Q		No	ClinGen TOPMed
CA350451951 rs1264330395	1938	P>L		No	ClinGen gnomAD
CA2091096 rs759811823	1938	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1234450248 CA350451947	1939	A>G		No	ClinGen TOPMed
rs1479583540 CA350451926	1942	N>S		No	ClinGen TOPMed
CA350451921 rs1204831994	1943	S>G		No	ClinGen gnomAD
rs776573406 CA2091095	1943	S>N		No	ClinGen ExAC gnomAD
rs1170201696 CA350451915	1943	S>R		No	ClinGen gnomAD
CA350451910 rs1414613198	1944	L>M		No	ClinGen gnomAD
RCV000436693 CA16604112 rs1057522312	1944	L>R		No	ClinGen ClinVar Ensembl dbSNP
rs771086366 CA2091094	1945	N>S		No	ClinGen ExAC gnomAD
rs1191187529 CA350451881	1948	L>F		No	ClinGen gnomAD
rs375437551 CA2091093 COSM3364566	1950	R>*	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2091091 rs144450123	1951	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1479627572 CA350451861	1952	N>S		No	ClinGen TOPMed gnomAD
rs748461968 CA2091090	1953	M>T		No	ClinGen ExAC gnomAD
rs991980283 CA64806923	1957	D>N		No	ClinGen TOPMed gnomAD
COSM1016096 rs769753487 CA64806915	1960	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA350451804 rs1232138603	1960	R>L		No	ClinGen TOPMed gnomAD
CA350451806 rs1232138603	1960	R>Q		No	ClinGen TOPMed gnomAD
rs1346703716 CA350451799	1961	H>R		No	ClinGen gnomAD
rs1415974617 CA350450388	1962	G>V		No	ClinGen gnomAD
CA350450343 rs774824960	1964	I>M		No	ClinGen ExAC gnomAD
CA350450313 rs1559115027	1965	M>I		No	ClinGen Ensembl
rs75561158 CA2091069	1965	M>T		No	ClinGen ExAC gnomAD
CA2091067 rs141723099	1968	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2091068 rs772061707	1968	H>R		No	ClinGen ExAC gnomAD
TCGA novel	1970	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755729044 CA2091066	1970	Y>H		No	ClinGen ExAC gnomAD
rs1381970337 CA350450167	1973	V>L		No	ClinGen TOPMed
rs1381970337 CA350450168	1973	V>M		No	ClinGen TOPMed
rs558563793 CA2091063	1976	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1312565027 CA350450050	1977	E>D		No	ClinGen TOPMed
rs1360924681	1979	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751542837 CA2091062	1979	A>V		No	ClinGen ExAC gnomAD
CA2091061 rs763858530 COSM1181206	1980	T>I	liver large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA350449906 rs1485261938	1982	S>I		No	ClinGen TOPMed
rs777650116 CA2091040	1986	D>G		No	ClinGen ExAC gnomAD
rs746547558 COSM158771 CA2091041	1986	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1340449280 CA350449721	1990	A>G		No	ClinGen TOPMed gnomAD
RCV000897710 CA2091037 rs73088469	1993	I>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350449675 rs1169177635	1993	I>V		No	ClinGen TOPMed
TCGA novel	1994	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350449593 rs1325490172	1996	G>C		No	ClinGen gnomAD
rs1195860591 CA350449565 RCV000523678	1998	S>P		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1041808684 CA64801468	1999	V>I		No	ClinGen TOPMed gnomAD
rs76603207 CA64801461	2000	T>P		No	ClinGen Ensembl
CA350449510 rs1325182883	2001	T>I		No	ClinGen gnomAD
CA350449502 rs767873608	2002	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2091034 rs767873608	2002	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1258101019 CA350449449	2005	V>D		No	ClinGen gnomAD
rs749361807 CA64801434	2008	V>A		No	ClinGen Ensembl
rs575899601 CA64801438	2008	V>I		No	ClinGen 1000Genomes
rs751692199 CA2091032	2009	V>I		No	ClinGen ExAC gnomAD
CA64801402 rs962735890	2010	R>S		No	ClinGen Ensembl
rs764606171 CA2091031	2012	H>D		No	ClinGen ExAC TOPMed gnomAD
CA350449342 rs764606171	2012	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs763429418 CA2091030	2013	Q>P		No	ClinGen ExAC gnomAD
rs145341584 CA2091028	2015	K>E		No	ClinGen ESP ExAC
rs200576245 CA2091026	2017	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2091024 rs746451664	2021	H>N		No	ClinGen ExAC gnomAD
rs772038859 CA2091022	2025	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2091020 rs148936264	2026	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs754679815 CA2091019	2026	G>V		No	ClinGen ExAC gnomAD
CA64801274 rs781497255	2027	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2091017 rs781497255	2027	V>M		No	ClinGen ExAC TOPMed gnomAD
rs112834608 CA64801254	2029	C>R		No	ClinGen TOPMed
rs112834608 CA350449035	2029	C>S		No	ClinGen TOPMed
rs764148814 CA2091014	2030	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765799390 CA2091011	2032	V>A		No	ClinGen ExAC gnomAD
rs753196846 CA2091012	2032	V>I		No	ClinGen ExAC gnomAD
CA350448836 rs1436843983	2035	F>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs910207809 CA64801224	2037	Y>D		No	ClinGen TOPMed
TCGA novel	2039	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350448440 rs1190601872	2042	Y>H		No	ClinGen gnomAD
rs752857743 CA2090989	2043	L>F		No	ClinGen ExAC gnomAD
CA350448414 rs1236587352	2044	V>L		No	ClinGen gnomAD
rs765599062 CA64800128	2045	P>A		No	ClinGen ExAC TOPMed gnomAD
rs765599062 CA2090988	2045	P>S		No	ClinGen ExAC TOPMed gnomAD
CA350448376 rs755491703	2047	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2090987 rs755491703	2047	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2090984 rs533349856	2050	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2090985 rs766766988	2050	I>V		No	ClinGen ExAC TOPMed gnomAD
CA350448331 rs1178721123	2051	G>D		No	ClinGen gnomAD
rs368283339 CA350448324	2052	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368283339 CA2090983	2052	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761161488 CA2090981	2053	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1353768389 CA350448311	2053	I>V		No	ClinGen TOPMed gnomAD
COSM1016093 CA2090979 rs370787997	2054	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	2057	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2090977 rs376465039	2058	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA64800035 rs974596913	2061	F>I		No	ClinGen TOPMed gnomAD
CA2090976 rs769761118	2062	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748908083 CA2090975	2063	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1213011 VAR_027448 CA64799988 COSM1016092	2064	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP
rs1388577327 CA350448154	2065	N>S		No	ClinGen TOPMed
rs758653727 CA2090973	2069	A>S		No	ClinGen ExAC gnomAD
TCGA novel	2069	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145980660 CA350448096	2070	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1412674867 CA350448067	2073	L>V		No	ClinGen TOPMed
rs1333435168 CA350448055	2074	L>I		No	ClinGen TOPMed
rs577439400 CA64799924	2078	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2090967 rs577439400	2078	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350447591 rs1309461910	2080	A>G		No	ClinGen gnomAD
CA64798882 rs914815449	2081	T>I		No	ClinGen gnomAD
CA350447554 rs1574939082	2082	F>C		No	ClinGen Ensembl
TCGA novel	2082	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756829602 CA2090946	2082	F>V		No	ClinGen ExAC gnomAD
TCGA novel	2084	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2084	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350447501 rs1439262060	2085	M>I		No	ClinGen TOPMed gnomAD
CA350447503 rs769546875	2085	M>R		No	ClinGen TOPMed gnomAD
rs769546875 CA64798877	2085	M>T		No	ClinGen TOPMed gnomAD
rs751276000 CA2090945	2088	L>P		No	ClinGen ExAC gnomAD
CA350447433 rs1352367164	2089	A>G		No	ClinGen gnomAD
rs762513280 CA2090943	2089	A>T		No	ClinGen ExAC gnomAD
rs373470929 CA2090942	2090	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2090941 rs143487154	2092	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs865866509 COSM1684839 CA64798840	2094	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2090940 rs759579427	2094	E>V		No	ClinGen ExAC
CA64798834 rs147994168	2095	T>I		No	ClinGen ESP
rs1171204162 CA350447316	2096	G>V		No	ClinGen TOPMed gnomAD
CA350447308 rs1210731249	2097	M>T		No	ClinGen TOPMed
rs1291672671 CA350447292	2098	A>D		No	ClinGen TOPMed
CA2090938 rs770806176	2102	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs946867157 CA64798802	2103	V>I		No	ClinGen TOPMed
TCGA novel	2106	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350447126 rs774512656	2107	L>F		No	ClinGen ExAC gnomAD
rs1179356922 CA350447114	2108	F>Y		No	ClinGen TOPMed
rs1250834865 CA350447100	2109	F>V		No	ClinGen gnomAD
rs1204636023	2110	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs768869218 CA350447017	2114	I>N		No	ClinGen ExAC TOPMed gnomAD
CA2090935 rs768869218	2114	I>T		No	ClinGen ExAC TOPMed gnomAD
CA350447023 rs1362768081	2114	I>V		No	ClinGen TOPMed
CA2090934 rs749308008	2116	S>F		No	ClinGen ExAC gnomAD
CA350446991 rs1282562701	2116	S>P		No	ClinGen gnomAD
CA350446957 RCV000598766 rs1553520447	2118	S>*		No	ClinGen ClinVar Ensembl dbSNP
rs985294198 CA64798763	2121	Y>H		No	ClinGen TOPMed gnomAD
COSM1016091 CA2090930 rs746428433	2123	L>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2090929 rs781390605	2125	K>E		No	ClinGen ExAC gnomAD
TCGA novel	2126	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2090928 rs181876463	2127	K>T		No	ClinGen 1000Genomes ExAC
rs1376967207 CA350446820	2129	N>S		No	ClinGen TOPMed gnomAD
CA2090927 rs752004491	2130	D>V		No	ClinGen ExAC gnomAD
rs200758693	2131	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2090925 rs758142404	2131	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2090926 rs777504430	2131	P>S		No	ClinGen ExAC
CA64798729 rs777504430	2131	P>T		No	ClinGen ExAC
CA350446652 rs1245884944	2133	L>S		No	ClinGen TOPMed
CA64797822 rs957173090	2135	L>F		No	ClinGen Ensembl
rs771347461 CA2090907	2137	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1574937792 CA350446579	2138	E>A		No	ClinGen Ensembl
rs747323347 CA2090906	2139	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2090905 rs778343728	2141	K>R		No	ClinGen ExAC gnomAD
rs758122196 CA2090904	2142	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2090903 rs568026669 COSM1243865	2142	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350446518 rs758122196	2142	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1185624232 CA350446487	2144	F>V		No	ClinGen gnomAD
rs1242372167 CA350446415	2148	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2090901 rs147074166	2149	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2090899 rs766281177	2152	F>V		No	ClinGen ExAC TOPMed gnomAD
rs767339265 CA2090896	2156	L>F		No	ClinGen ExAC gnomAD
rs954859293 CA64797702	2157	I>N		No	ClinGen TOPMed
rs1297046422 CA350446311	2163	Q>*		No	ClinGen gnomAD
rs765410981 CA2090893	2164	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350446285 rs1364327681	2167	D>G		No	ClinGen gnomAD
TCGA novel	2169	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2169	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371804152 CA2090888	2172	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs747590822 COSM209932 CA2090889	2172	Y>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs747590822 CA350446252	2172	Y>N		No	ClinGen ExAC gnomAD
rs778557858 CA2090885	2174	V>A		No	ClinGen ExAC gnomAD
rs748549796 CA2090886	2174	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2176	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350446217 rs1470226824	2177	P>Q		No	ClinGen gnomAD
CA350446219 rs1194746165	2177	P>S		No	ClinGen gnomAD
rs748816074 CA350446207	2178	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1209683641 CA350446193	2180	T>I		No	ClinGen TOPMed gnomAD
rs1209683641 CA350446194	2180	T>S		No	ClinGen TOPMed gnomAD
CA2090881 rs145969422	2182	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350446168 rs1225758940	2184	N>H		No	ClinGen gnomAD
rs767465812 CA2090879	2189	M>I		No	ClinGen ExAC TOPMed
rs201456527 CA64797576	2189	M>T		No	ClinGen Ensembl
CA350446127 rs1260904863	2190	F>L		No	ClinGen TOPMed
TCGA novel	2192	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183348504 CA350446104	2193	L>F		No	ClinGen TOPMed
CA64797574 rs929739806	2193	L>S		No	ClinGen TOPMed
rs757005876 CA2090878	2194	V>F		No	ClinGen ExAC TOPMed gnomAD
CA350446080 rs1191676246	2197	G>D		No	ClinGen TOPMed
rs1430740512 CA350446083	2197	G>S		No	ClinGen TOPMed
CA64797529 rs765442920	2198	T>I		No	ClinGen ExAC TOPMed gnomAD
rs765442920 CA2090876	2198	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1178726110 CA350446057	2200	F>L		No	ClinGen TOPMed
CA2090875 rs759737171	2201	F>I		No	ClinGen ExAC TOPMed gnomAD
rs1391806197 CA350446051	2201	F>L		No	ClinGen gnomAD
CA350446048 rs776770580	2202	S>A		No	ClinGen ExAC gnomAD
TCGA novel	2202	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2090874 rs776770580	2202	S>P		No	ClinGen ExAC gnomAD
rs138995566 CA350446035	2204	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771874946 CA64797488	2206	L>I		No	ClinGen TOPMed gnomAD
rs773811031 CA2090871	2208	N>I		No	ClinGen ExAC gnomAD
CA2090868 rs267599198	2209	E>K		No	ClinGen ExAC TOPMed gnomAD
rs267599198 CA2090869	2209	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2090867 rs768348367	2209	E>V		No	ClinGen ExAC gnomAD
CA2090866 rs748933349	2216	R>G		No	ClinGen ExAC gnomAD
rs763396488 CA2090849	2220	R>K		No	ClinGen ExAC gnomAD
TCGA novel	2222	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745326257 CA2090846	2224	S>Y		No	ClinGen ExAC gnomAD
rs780740390 CA350795061	2226	H>L		No	ClinGen ExAC gnomAD
rs780740390 CA2090845	2226	H>R		No	ClinGen ExAC gnomAD
CA2090844 rs770854223	2229	E>Q		No	ClinGen ExAC gnomAD
rs1157368323 CA350795032	2230	T>I		No	ClinGen gnomAD
CA65503290 rs959036612	2231	I>T		No	ClinGen gnomAD
rs758083838 CA2090841	2232	D>E		No	ClinGen ExAC gnomAD
rs1193354479 CA350794998	2235	E>D		No	ClinGen gnomAD
CA2090839 rs756459081	2238	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2090837 rs559960979	2238	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs756459081 CA2090838	2238	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350794978 rs1369515008	2239	A>S		No	ClinGen TOPMed
TCGA novel	2240	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335178592 CA350794945	2244	V>I		No	ClinGen gnomAD
rs1274823036 CA350794935	2245	E>G		No	ClinGen gnomAD
COSM442278 CA2090835 rs762358538	2247	G>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764693313 CA2090832	2249	A>T		No	ClinGen ExAC gnomAD
CA2090831 rs201073472	2251	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350794890 rs1198178692	2252	D>Y		No	ClinGen gnomAD
rs1367934605 CA350794883	2253	L>V		No	ClinGen gnomAD
rs769424870 CA2090829	2254	V>L		No	ClinGen ExAC gnomAD
CA350794857 rs1395590195	2257	Y>H		No	ClinGen gnomAD
CA2090827 rs776090909	2258	C>*		No	ClinGen ExAC gnomAD
CA65503289 rs1021189736	2259	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	2261	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770400959 CA2090826 COSM209931	2262	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs988248895 CA65503288	2263	Y>N		No	ClinGen TOPMed
CA2090824 rs772952514	2265	L>F		No	ClinGen ExAC gnomAD
rs1458387068 CA350794795	2266	I>T		No	ClinGen TOPMed gnomAD
CA350794778 rs1260193713	2268	K>N		No	ClinGen gnomAD
CA350794769 COSM442277 rs1245685640	2269	K>N	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	2270	I>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556172328 CA2090823	2271	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1248234026 CA350794715	2277	S>T		No	ClinGen gnomAD
rs778915773 CA2090821	2278	I>F		No	ClinGen ExAC gnomAD
CA2090820 rs775106251	2279	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2090818 rs781587312	2282	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2090819 rs746139447	2282	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2090817 rs757244082	2284	E>D		No	ClinGen ExAC TOPMed gnomAD
CA65503287 rs961918587	2284	E>Q		No	ClinGen TOPMed
CA350794660 rs1218007350	2285	C>R		No	ClinGen gnomAD
TCGA novel	2289	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350794620 rs1462472088	2291	V>M		No	ClinGen TOPMed
TCGA novel	2296	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350794584 rs1411270033	2296	K>R		No	ClinGen gnomAD
CA2090801 rs553964971	2299	I>V		No	ClinGen ExAC TOPMed gnomAD
rs781205887 CA2090800	2300	F>S		No	ClinGen ExAC gnomAD
CA65503060 rs1026646121	2303	L>V		No	ClinGen Ensembl
CA350794526 rs1360420474	2305	G>E		No	ClinGen gnomAD
CA65503059 rs993866609	2305	G>R		No	ClinGen Ensembl
CA2090799 rs150196545	2307	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350794491 rs1408437547	2311	S>G		No	ClinGen gnomAD
CA2090797 rs777977300	2312	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2090796 rs758803248	2313	N>S		No	ClinGen ExAC gnomAD
rs1287546579 CA350794461	2315	L>P		No	ClinGen TOPMed
CA2090792 rs754210649	2317	R>G		No	ClinGen ExAC gnomAD
CA350794443 rs1312184973	2318	N>S		No	ClinGen gnomAD
rs1021345094	2320	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs906035696 CA350794427	2320	T>N		No	ClinGen TOPMed gnomAD
rs906035696 CA65503058	2320	T>S		No	ClinGen TOPMed gnomAD
rs772562742 CA2090789	2321	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2090790 rs760439616	2321	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750042258 CA2090769	2322	S>T		No	ClinGen ExAC gnomAD
rs1439334105 CA350794384	2326	V>A		No	ClinGen gnomAD
CA2090767 RCV001092424 rs761340026	2326	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA350794374 rs1559107895	2327	D>E		No	ClinGen Ensembl
rs751127829 CA2090766	2328	S>F		No	ClinGen ExAC gnomAD
TCGA novel	2332	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2090764 rs373772646	2335	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2090763 rs775118602	2336	C>R		No	ClinGen ExAC gnomAD
rs769682851 CA2090762	2337	P>L		No	ClinGen ExAC gnomAD
rs1489238710 CA350794284	2341	A>T		No	ClinGen gnomAD
rs773447895 CA2090760	2342	L>I		No	ClinGen ExAC gnomAD
CA2090759 rs369093382	2343	D>G		No	ClinGen ESP ExAC gnomAD
CA65503042 rs373723120	2344	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs748209226 CA2090758	2348	V>A		No	ClinGen ExAC TOPMed gnomAD
rs914307906 CA65503041	2349	E>K		No	ClinGen TOPMed
CA350794216 rs1226084292	2351	H>L		No	ClinGen gnomAD
rs772341619 CA2090757 CA65503040	2352	L>F		No	ClinGen ExAC gnomAD
CA350794212 rs1574931960	2352	L>V		No	ClinGen Ensembl
rs1416431235 TCGA novel CA350794199	2354	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs1182266107 CA350794179	2356	A>V		No	ClinGen gnomAD
CA2090755 rs749848420	2357	R>M		No	ClinGen ExAC gnomAD
CA65503039 rs540499088	2357	R>S		No	ClinGen 1000Genomes gnomAD
TCGA novel	2358	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2090754 rs780445454	2359	H>L		No	ClinGen ExAC TOPMed gnomAD
CA2090753 rs756459582	2362	P>S		No	ClinGen ExAC gnomAD
rs572494384 CA2090752 COSM442276	2364	K>N	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA2090751 rs757029106	2367	K>T		No	ClinGen ExAC gnomAD
CA2090728 rs752156383	2370	V>A		No	ClinGen ExAC TOPMed gnomAD
CA350794080 rs1335174505	2370	V>I		No	ClinGen gnomAD
rs754933913 CA2090726	2371	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2090725 rs753595337	2373	L>F		No	ClinGen ExAC gnomAD
CA65502955 rs990368624	2376	R>I		No	ClinGen Ensembl
TCGA novel	2376	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760482242 CA2090723	2378	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA350794029 rs1313074087	2378	H>Y		No	ClinGen TOPMed
rs1469315236 CA350794023	2379	L>V		No	ClinGen gnomAD
rs1559107105 CA350794019 CA350794017	2380	M>L		No	ClinGen Ensembl
rs1261800741 CA350794005	2381	P>H		No	ClinGen TOPMed
rs1189089258 CA350793995	2383	K>E		No	ClinGen gnomAD
rs1467487610 CA350793981	2384	D>E		No	ClinGen Ensembl
CA350793980 rs1440597292	2385	R>G		No	ClinGen gnomAD
rs1461299485 CA350793953	2389	M>K		No	ClinGen TOPMed
rs957495468 CA350793954	2389	M>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA65502954 rs957495468	2389	M>V		No	ClinGen gnomAD
rs1085308032 CA350793936 RCV000490250	2391	S>N		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	2393	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763031250 CA2090719	2394	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2394	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350793910 rs1553519649	2395	K>*		No	ClinGen Ensembl
CA350793901 rs1266010256	2396	R>T		No	ClinGen gnomAD
rs1226788521 CA350793878	2399	S>C		No	ClinGen gnomAD
rs775490909 CA2090718	2403	A>T		No	ClinGen ExAC gnomAD
CA2090715 rs771375124	2405	I>K		No	ClinGen ExAC gnomAD
rs771375124 CA2090714	2405	I>T		No	ClinGen ExAC gnomAD
rs977651634 CA65502952	2408	P>S		No	ClinGen gnomAD
TCGA novel	2408	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1391208528 CA350793818	2409	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	2411	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168739264 CA350793751 COSM1733875	2418	S>T	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA65502722 rs1055032345	2420	M>I		No	ClinGen Ensembl
CA2090697 rs752817021	2420	M>T		No	ClinGen ExAC gnomAD
CA350793722 rs765289715	2422	P>Q		No	ClinGen ExAC gnomAD
rs1248260000 CA350793715	2423	K>N		No	ClinGen TOPMed gnomAD
rs1478207792 CA350793717	2423	K>R		No	ClinGen gnomAD
CA65502721 rs925844991	2424	S>L		No	ClinGen gnomAD
CA350793705 rs1291116423	2425	K>R		No	ClinGen gnomAD
CA350793698 rs761068277	2426	R>L		No	ClinGen ExAC gnomAD
CA350793673 rs1214511688	2430	K>E		No	ClinGen gnomAD
CA65502720 COSM1405232 rs201795274	2430	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA350793665 rs1364448744	2431	I>F		No	ClinGen TOPMed
CA350793648 rs1398615696	2433	S>L		No	ClinGen TOPMed
rs1277038235 CA350793644	2434	E>G		No	ClinGen gnomAD
CA2090691 rs773757576	2434	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2090690 rs771756451	2436	V>I		No	ClinGen ExAC gnomAD
CA350793625 rs1574928731	2437	Q>*		No	ClinGen Ensembl
rs747816891 CA2090689	2438	N>D		No	ClinGen ExAC gnomAD
rs778643676 CA2090688	2439	K>Q		No	ClinGen ExAC TOPMed gnomAD
COSM209928 rs148434996 CA2090686	2442	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA65502719 rs373829958	2446	S>C		No	ClinGen ESP TOPMed
CA350793534 rs1483844691	2449	M>L		No	ClinGen gnomAD
CA350793530 rs1239679638	2449	M>T		No	ClinGen gnomAD
TCGA novel	2450	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2451	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350793506 rs1202355278	2452	C>Y		No	ClinGen gnomAD
rs745863207 CA2090665	2453	E>A		No	ClinGen ExAC TOPMed gnomAD
CA2090664 rs150618783	2456	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2090662 rs751398668	2458	R>K		No	ClinGen ExAC TOPMed gnomAD
CA2090663 rs751398668	2458	R>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2460	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314824929 CA350793451	2461	I>V		No	ClinGen gnomAD
rs373955277 CA2090661 RCV000520953 CA350793438	2462	M>I		No	ClinGen ExAC gnomAD ClinVar dbSNP
rs1305649104 CA350793441	2462	M>K		No	ClinGen gnomAD
rs1305649104 CA350793440	2462	M>T		No	ClinGen gnomAD
TCGA novel	2463	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2090659 rs753933252	2464	N>D		No	ClinGen ExAC gnomAD
CA2090658 rs545013516	2466	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2090657 rs756279108	2469	C>Y		No	ClinGen ExAC gnomAD
rs750832130 CA2090656	2470	I>T		No	ClinGen ExAC TOPMed gnomAD
rs768102971 CA2090655	2473	L>S		No	ClinGen ExAC
rs1466284562 CA350793353	2475	H>Y		No	ClinGen TOPMed
CA350793344 rs1458995184	2476	I>T		No	ClinGen gnomAD
rs1559103934 CA350793329	2478	S>N		No	ClinGen Ensembl
CA350793322 rs1574926259	2479	R>K		No	ClinGen Ensembl
rs764500803 CA2090633	2482	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1559100319 CA350793176	2484	F>L		No	ClinGen Ensembl
rs1288929217 CA350793111	2486	V>A		No	ClinGen gnomAD
rs764899391 CA2090630	2488	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1425930367 CA350793069	2490	L>S		No	ClinGen TOPMed
CA350793042 rs1387556882	2492	N>D		No	ClinGen gnomAD
CA350793011 rs1347677139	2494	K>R		No	ClinGen gnomAD
rs1364553960 CA350793001	2495	V>M		No	ClinGen TOPMed
rs770738451 CA2090627	2497	M>T		No	ClinGen ExAC TOPMed gnomAD
CA350792965 rs747030042	2499	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1267325645 CA350792963	2500	L>V		No	ClinGen Ensembl
CA350792955 rs1574920234	2501	T>K		No	ClinGen Ensembl
TCGA novel	2504	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375742393 CA2090623	2507	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA65501894 COSM1691963 rs900221778	2509	P>L	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
COSM1669732 rs879057752 CA65501893	2511	T>P	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2090622 rs780377235	2514	K>Q		No	ClinGen ExAC gnomAD
CA350792845 rs1461430030	2515	D>H		No	ClinGen gnomAD
rs1574917084 CA350792827	2517	H>P		No	ClinGen Ensembl
rs1262344134 CA350792793	2522	E>Q		No	ClinGen gnomAD
CA2090603 rs769905380	2524	H>N		No	ClinGen ExAC gnomAD
CA350792772 rs1281321207	2524	H>Q		No	ClinGen TOPMed gnomAD
CA65501549 rs915894052	2526	P>L		No	ClinGen Ensembl
rs543071346 CA65501550	2526	P>S		No	ClinGen Ensembl
CA350792758 rs1236917027	2527	V>A		No	ClinGen gnomAD
rs59069848 CA350792761	2527	V>I		No	ClinGen TOPMed
CA65501548 rs59069848	2527	V>L		No	ClinGen TOPMed
rs746158907 CA2090602	2529	A>G		No	ClinGen ExAC gnomAD
rs1455055310 CA350792736	2531	G>V		No	ClinGen gnomAD
rs1336554481 CA350792729	2532	V>A		No	ClinGen gnomAD
TCGA novel	2534	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350792695 rs1469138794	2537	D>G		No	ClinGen TOPMed gnomAD
CA350792677 rs1185275379	2540	E>G		No	ClinGen gnomAD
CA350792652 rs1354728881	2543	K>N		No	ClinGen TOPMed
rs780245707 CA65501545	2548	I>V		No	ClinGen gnomAD
CA350792614 rs1559098062	2549	T>I		No	ClinGen Ensembl
CA2090596 rs143305915	2550	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA350792588 rs1209165727	2553	V>A		No	ClinGen TOPMed gnomAD
CA2090593 rs753467141	2556	T>S		No	ClinGen ExAC gnomAD
CA65501542 rs907580261	2560	E>D		No	ClinGen gnomAD
rs941078010 CA65501428	2561	V>I		No	ClinGen gnomAD
rs908293445 CA65501427	2566	A>S		No	ClinGen Ensembl
CA2090574 rs374201823	2567	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA350792469 rs1161174998	2569	Q>*		No	ClinGen TOPMed
rs755873537 CA2090572	2570	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2090571 rs749949881	2570	K>T		No	ClinGen ExAC gnomAD
CA2090570 rs767196449	2572	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	2573	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2090567 rs553023594	2574	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs753695377 CA65501426	2575	A>S		No	ClinGen Ensembl
TCGA novel	2581	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138260707 CA2090564	2581	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs138260707 CA2090563	2581	G>V		No	ClinGen ESP ExAC gnomAD
CA2090561 rs772078473	2582	S>F		No	ClinGen ExAC gnomAD
CA2090562 rs773258182	2582	S>P		No	ClinGen ExAC gnomAD
CA2090560 rs371138932	2584	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2090559 rs371138932	2584	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1574915517 CA350792359	2586	V>D		No	ClinGen Ensembl
rs769094874 CA2090556	2587	D>H		No	ClinGen ExAC gnomAD
TCGA novel	2588	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2588	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749635730 CA2090554	2593	M>R		No	ClinGen ExAC gnomAD
rs749635730 CA350792307	2593	M>T		No	ClinGen ExAC gnomAD
RCV000479920 rs1064793695	2594	E>missing		No	ClinVar dbSNP
CA350792301 rs1441177834	2594	E>K		No	ClinGen gnomAD
CA65501422 rs991727801	2596	S>K		No	ClinGen Ensembl

2 associated diseases with Q86UK0

[MIM: 601277]: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:12915478, ECO:0000269|PubMed:17508018, ECO:0000269|PubMed:18284401, ECO:0000269|PubMed:19262603, ECO:0000269|PubMed:22257947}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 242500]: Ichthyosis, congenital, autosomal recessive 4B (ARCI4B)

A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. {ECO:0000269|PubMed:16007253, ECO:0000269|PubMed:16675967, ECO:0000269|PubMed:16902423}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:12915478, ECO:0000269|PubMed:17508018, ECO:0000269|PubMed:18284401, ECO:0000269|PubMed:19262603, ECO:0000269|PubMed:22257947}. Note=The disease is caused by variants affecting the gene represented in this entry.
A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. {ECO:0000269|PubMed:16007253, ECO:0000269|PubMed:16675967, ECO:0000269|PubMed:16902423}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for Q86UK0

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	1346 - 1577	IPR003439-1
domain	ABC transporter-like, ATP-binding domain	2254 - 2489	IPR003439-2
domain	AAA+ ATPase domain	1370 - 1554	IPR003593-1
domain	AAA+ ATPase domain	2282 - 2467	IPR003593-2
domain	ABC-2 type transporter, transmembrane domain	938 - 1270	IPR013525-1
domain	ABC-2 type transporter, transmembrane domain	1744 - 2167	IPR013525-2
conserved_site	ABC transporter-like, conserved site	1479 - 1493	IPR017871

Functions

		Description
EC Number	7.6.2.1	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Cytoplasmic vesicle, secretory vesicle membrane ; Multi-pass membrane protein Golgi apparatus membrane	Localizes in the limiting membrane of the lamellar granules (LGs) (PubMed:17927575) Trafficks from the Golgi apparatus to the lamellar granules (LGs) at the cell periphery in the uppermost granular layer keratinocytes where ABCA12-positive LGs fuse with the keratinocyte-cell membrane to secrete their lipid content to the extracellular space of the stratum corneum (PubMed:16007253, PubMed:17927575) Co-localizes through the Golgi apparatus to the cell periphery with glucosylceramide (PubMed:17927575)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
epidermal lamellar body	A specialized secretory organelle found in keratinocytes and involved in the formation of an impermeable, lipid-containing membrane that serves as a water barrier and is required for correct skin barrier function.
epidermal lamellar body membrane	The lipid bilayer surrounding an epidermal lamellar body, a specialized secretory organelle found in keratinocytes and involved in the formation of an impermeable, lipid-containing membrane that serves as a water barrier and is required for correct skin barrier function.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
transport vesicle membrane	The lipid bilayer surrounding a transport vesicle.

8 GO annotations of molecular function

Name	Definition
ABC-type transporter activity	Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
apolipoprotein A-I receptor binding	Binding to an apolipoprotein A-I receptor.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled intramembrane lipid transporter activity	Catalysis of the movement of lipids from one membrane leaflet to the other, driven by ATP hydrolysis. This includes flippases and floppases.
ATPase-coupled lipid transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + lipid(in) = ADP + phosphate + lipid(out).
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
lipid transporter activity	Enables the directed movement of lipids into, out of or within a cell, or between cells.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

21 GO annotations of biological process

Name	Definition
cellular homeostasis	Any process involved in the maintenance of an internal steady state at the level of the cell.
ceramide metabolic process	The chemical reactions and pathways involving ceramides, any N-acylated sphingoid.
ceramide transport	The directed movement of ceramides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ceramides are a class of lipid composed of sphingosine linked to a fatty acid.
cholesterol efflux	The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.
corneocyte desquamation	The delamination process that results in the shedding of a corneocyte from the surface of the epidermis.
establishment of skin barrier	Establishment of the epithelial barrier, the functional barrier in the skin that limits its permeability.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
keratinization	The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns.
lipid homeostasis	Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.
lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
lung alveolus development	The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways.
phospholipid efflux	The directed movement of a phospholipid out of a cell or organelle.
positive regulation of cholesterol efflux	Any process that increases the frequency, rate or extent of cholesterol efflux. Cholesterol efflux is the directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.
positive regulation of intracellular lipid transport	Any process that activates or increases the frequency, rate or extent of the directed movement of lipids within cells.
positive regulation of protein localization to cell surface	Any process that activates or increases the frequency, rate or extent of protein localization to the cell surface.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulated exocytosis	A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand.
regulation of insulin secretion involved in cellular response to glucose stimulus	Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.
regulation of keratinocyte differentiation	Any process that modulates the frequency, rate or extent of keratinocyte differentiation.
secretion by cell	The controlled release of a substance by a cell.
surfactant homeostasis	Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P78363	ABCA4	Retinal-specific phospholipid-transporting ATPase ABCA4	Homo sapiens (Human)	PR
Q8IUA7	ABCA9	ATP-binding cassette sub-family A member 9	Homo sapiens (Human)	PR
Q8N139	ABCA6	ATP-binding cassette sub-family A member 6	Homo sapiens (Human)	PR
Q8WWZ4	ABCA10	ATP-binding cassette sub-family A member 10	Homo sapiens (Human)	PR
Q8WWZ7	ABCA5	Cholesterol transporter ABCA5	Homo sapiens (Human)	PR
Q8K449	Abca9	ATP-binding cassette sub-family A member 9	Mus musculus (Mouse)	PR
Q8K448	Abca5	Cholesterol transporter ABCA5	Mus musculus (Mouse)	PR
Q8K442	Abca8a	ABC-type organic anion transporter ABCA8A	Mus musculus (Mouse)	PR
P34358	ced-7	ABC transporter ced-7	Caenorhabditis elegans	PR
Q84K47	ABCA2	ABC transporter A family member 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FKF2	ABCA11	ABC transporter A family member 11	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLT5	ABCA9	ABC transporter A family member 9	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MASLFHQLQI	LVWKNWLGVK	RQPLWTLVLI	LWPVIIFIIL	AITRTKFPPT	AKPTCYLAPR
70	80	90	100	110	120
NLPSTGFFPF	LQTLLCDTDS	KCKDTPYGPQ	DLLRRKGIDD	ALFKDSEILR	KSSNLDKDSS
130	140	150	160	170	180
LSFQSTQVPE	RRHASLATVF	PSPSSDLEIP	GTYTFNGSQV	LARILGLEKL	LKQNSTSEDI
190	200	210	220	230	240
RRELCDSYSG	YIVDDAFSWT	FLGRNVFNKF	CLSNMTLLES	SLQELNKQFS	QLSSDPNNQK
250	260	270	280	290	300
IVFQEIVRML	SFFSQVQEQK	AVWQLLSSFP	NVFQNDTSLS	NLFDVLRKAN	SVLLVVQKVY
310	320	330	340	350	360
PRFATNEGFR	TLQKSVKHLL	YTLDSPAQGD	SDNITHVWNE	DDGQTLSPSS	LAAQLLILEN
370	380	390	400	410	420
FEDALLNISA	NSPYIPYLAC	VRNVTDSLAR	GSPENLRLLQ	STIRFKKSFL	RNGSYEDYFP
430	440	450	460	470	480
PVPEVLKSKL	SQLRNLTELL	CESETFSLIE	KSCQLSDMSF	GSLCEESEFD	LQLLEAAELG
490	500	510	520	530	540
TEIAASLLYH	DNVISKKVRD	LLTGDPSKIN	LNMDQFLEQA	LQMNYLENIT	QLIPIIEAML
550	560	570	580	590	600
HVNNSADASE	KPGQLLEMFK	NVEELKEDLR	RTTGMSNRTI	DKLLAIPIPD	NRAEIISQVF
610	620	630	640	650	660
WLHSCDTNIT	TPKLEDAMKE	FCNLSLSERS	RQSYLIGLTL	LHYLNIYNFT	YKVFFPRKDQ
670	680	690	700	710	720
KPVEKMMELF	IRLKEILNQM	ASGTHPLLDK	MRSLKQMHLP	RSVPLTQAMY	RSNRMNTPQG
730	740	750	760	770	780
SFSTISQALC	SQGITTEYLT	AMLPSSQRPK	GNHTKDFLTY	KLTKEQIASK	YGIPINSTPF
790	800	810	820	830	840
CFSLYKDIIN	MPAGPVIWAF	LKPMLLGRIL	YAPYNPVTKA	IMEKSNVTLR	QLAELREKSQ
850	860	870	880	890	900
EWMDKSPLFM	NSFHLLNQAI	PMLQNTLRNP	FVQVFVKFSV	GLDAVELLKQ	IDELDILRLK
910	920	930	940	950	960
LENNIDIIDQ	LNTLSSLTVN	ISSCVLYDRI	QAAKTIDEME	REAKRLYKSN	ELFGSVIFKL
970	980	990	1000	1010	1020
PSNRSWHRGY	DSGNVFLPPV	IKYTIRMSLK	TAQTTRSLRT	KIWAPGPHNS	PSHNQIYGRA
1030	1040	1050	1060	1070	1080
FIYLQDSIER	AIIELQTGRN	SQEIAVQVQA	IPYPCFMKDN	FLTSVSYSLP	IVLMVAWVVF
1090	1100	1110	1120	1130	1140
IAAFVKKLVY	EKDLRLHEYM	KMMGVNSCSH	FFAWLIESVG	FLLVTIVILI	IILKFGNILP
1150	1160	1170	1180	1190	1200
KTNGFILFLY	FSDYSFSVIA	MSYLISVFFN	NTNIAALIGS	LIYIIAFFPF	IVLVTVENEL
1210	1220	1230	1240	1250	1260
SYVLKVFMSL	LSPTAFSYAS	QYIARYEEQG	IGLQWENMYT	SPVQDDTTSF	GWLCCLILAD
1270	1280	1290	1300	1310	1320
SFIYFLIAWY	VRNVFPGTYG	MAAPWYFPIL	PSYWKERFGC	AEVKPEKSNG	LMFTNIMMQN
1330	1340	1350	1360	1370	1380
TNPSASPEYM	FSSNIEPEPK	DLTVGVALHG	VTKIYGSKVA	VDNLNLNFYE	GHITSLLGPN
1390	1400	1410	1420	1430	1440
GAGKTTTISM	LTGLFGASAG	TIFVYGKDIK	TDLHTVRKNM	GVCMQHDVLF	SYLTTKEHLL
1450	1460	1470	1480	1490	1500
LYGSIKVPHW	TKKQLHEEVK	RTLKDTGLYS	HRHKRVGTLS	GGMKRKLSIS	IALIGGSRVV
1510	1520	1530	1540	1550	1560
ILDEPSTGVD	PCSRRSIWDV	ISKNKTARTI	ILSTHHLDEA	EVLSDRIAFL	EQGGLRCCGS
1570	1580	1590	1600	1610	1620
PFYLKEAFGD	GYHLTLTKKK	SPNLNANAVC	DTMAVTAMIQ	SHLPEAYLKE	DIGGELVYVL
1630	1640	1650	1660	1670	1680
PPFSTKVSGA	YLSLLRALDN	GMGDLNIGCY	GISDTTVEEV	FLNLTKESQK	NSAMSLEHLT
1690	1700	1710	1720	1730	1740
QKKIGNSNAN	GISTPDDLSV	SSSNFTDRDD	KILTRGERLD	GFGLLLKKIM	AILIKRFHHT
1750	1760	1770	1780	1790	1800
RRNWKGLIAQ	VILPIVFVTT	AMGLGTLRNS	SNSYPEIQIS	PSLYGTSEQT	AFYANYHPST
1810	1820	1830	1840	1850	1860
EALVSAMWDF	PGIDNMCLNT	SDLQCLNKDS	LEKWNTSGEP	ITNFGVCSCS	ENVQECPKFN
1870	1880	1890	1900	1910	1920
YSPPHRRTYS	SQVIYNLTGQ	RVENYLISTA	NEFVQKRYGG	WSFGLPLTKD	LRFDITGVPA
1930	1940	1950	1960	1970	1980
NRTLAKVWYD	PEGYHSLPAY	LNSLNNFLLR	VNMSKYDAAR	HGIIMYSHPY	PGVQDQEQAT
1990	2000	2010	2020	2030	2040
ISSLIDILVA	LSILMGYSVT	TASFVTYVVR	EHQTKAKQLQ	HISGIGVTCY	WVTNFIYDMV
2050	2060	2070	2080	2090	2100
FYLVPVAFSI	GIIAIFKLPA	FYSENNLGAV	SLLLLLFGYA	TFSWMYLLAG	LFHETGMAFI
2110	2120	2130	2140	2150	2160
TYVCVNLFFG	INSIVSLSVV	YFLSKEKPND	PTLELISETL	KRIFLIFPQF	CFGYGLIELS
2170	2180	2190	2200	2210	2220
QQQSVLDFLK	AYGVEYPNET	FEMNKLGAMF	VALVSQGTMF	FSLRLLINES	LIKKLRLFFR
2230	2240	2250	2260	2270	2280
KFNSSHVRET	IDEDEDVRAE	RLRVESGAAE	FDLVQLYCLT	KTYQLIHKKI	IAVNNISIGI
2290	2300	2310	2320	2330	2340
PAGECFGLLG	VNGAGKTTIF	KMLTGDIIPS	SGNILIRNKT	GSLGHVDSHS	SLVGYCPQED
2350	2360	2370	2380	2390	2400
ALDDLVTVEE	HLYFYARVHG	IPEKDIKETV	HKLLRRLHLM	PFKDRATSMC	SYGTKRKLST
2410	2420	2430	2440	2450	2460
ALALIGKPSI	LLLDEPSSGM	DPKSKRHLWK	IISEEVQNKC	SVILTSHSME	ECEALCTRLA
2470	2480	2490	2500	2510	2520
IMVNGKFQCI	GSLQHIKSRF	GRGFTVKVHL	KNNKVTMETL	TKFMQLHFPK	TYLKDQHLSM
2530	2540	2550	2560	2570	2580
LEYHVPVTAG	GVANIFDLLE	TNKTALNITN	FLVSQTTLEE	VFINFAKDQK	SYETADTSSQ
2590
GSTISVDSQD	DQMES