AiPD: Autoinhibited Protein Database

P02730

Gene name	SLC4A1 (AE1, DI, EPB3)
Protein name	Band 3 anion transport protein
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6521
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-87 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-87 (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

47 structures for P02730

Entry ID	Method	Resolution	Chain	Position	Source
1BH7	NMR	-	A	803-835	PDB
1BNX	NMR	-	A	389-430	PDB
1BTQ	NMR	-	A	405-424	PDB
1BTR	NMR	-	A	405-424	PDB
1BTS	NMR	-	A	436-456	PDB
1BTT	NMR	-	A	436-456	PDB
1BZK	NMR	-	A	389-430	PDB
1HYN	X-ray	260 A	P/Q/R/S	1-379	PDB
2BTA	NMR	-	A	1-15	PDB
2BTB	NMR	-	A	1-15	PDB
3BTB	NMR	-	A	1-15	PDB
4KY9	X-ray	223 A	A/P	51-356	PDB
4YZF	X-ray	350 A	A/B/C/D	1-911	PDB
7TVZ	EM	360 A	A/B	1-911	PDB
7TW0	EM	460 A	A/B	1-911	PDB
7TW1	EM	460 A	A/B	1-911	PDB
7TW2	EM	480 A	A/B	1-911	PDB
7TW3	EM	440 A	A/B	1-911	PDB
7TW5	EM	570 A	A/B	1-911	PDB
7TW6	EM	560 A	A/B/J/K	1-911	PDB
7TY4	EM	299 A	A/B	1-911	PDB
7TY6	EM	298 A	A/B	1-911	PDB
7TY7	EM	337 A	A/B	1-911	PDB
7TY8	EM	318 A	A/B	1-911	PDB
7TYA	EM	307 A	A/B	1-911	PDB
7UZ3	EM	235 A	C/E	1-911	PDB
7UZU	EM	230 A	W	1-911	PDB
7UZV	EM	250 A	C/E	1-911	PDB
7V07	EM	280 A	C/E	1-911	PDB
7V0K	EM	240 A	O/P/W	1-911	PDB
7V0M	EM	270 A	W	1-911	PDB
7V0T	EM	270 A	C/E	1-911	PDB
7V0U	EM	300 A	D/F	1-911	PDB
7V0Y	EM	300 A	C/E	1-911	PDB
7V19	EM	330 A	C/E	1-911	PDB
8CRQ	EM	320 A	C/E	1-911	PDB
8CRR	EM	300 A	C/E	1-911	PDB
8CRT	EM	300 A	C/E	1-911	PDB
8CS9	EM	274 A	V/Y/Z/e/f/g	1-911	PDB
8CSL	EM	2500 A	V/W/Y/Z/e/f/g	1-911	PDB
8CSV	EM	270 A	W	1-911	PDB
8CSY	EM	270 A	C/E	1-911	PDB
8CT3	EM	330 A	C/E	1-911	PDB
8CTE	EM	290 A	P/T/W	1-911	PDB
8T6U	EM	313 A	A/B	369-891	PDB
8T6V	EM	295 A	A/B	369-891	PDB
AF-P02730-F1	Predicted				AlphaFoldDB

766 variants for P02730

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001122076 RCV001122077 CA8600736 rs55773290 RCV001122075 RCV000903910	31	M>T	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_014612 RCV000370005 RCV000273549 CA8600706 RCV000242676 RCV001509619 RCV000330909 rs5035	38	D>A	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000247655 RCV000494697 CA127375 RCV000298897 RCV000512811 VAR_000798 rs45562031 RCV001127848 RCV000019333	40	E>K	Cryohydrocytosis Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 found in patients with hemolytic anemia; unknown pathological significance; Montefiore [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA210832 rs5036 RCV000260217 RCV000251469 RCV000019328 RCV000989926 RCV001515404 RCV000357412 VAR_000799	56	K>E	Hemolytic anemia Band 3 memphis Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Di(a)/Memphis-II antigen [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000339556 rs368863744 RCV000392701 CA8600679 RCV000305664	58	Y>C	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8600670 RCV001850728 RCV000401440 VAR_039290 RCV000345874 rs13306787 RCV000288475	68	E>K	Hemolytic anemia Variant assessed as Somatic; 0.0 impact. Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8600667 RCV002502252 RCV000949001 rs13306788 RCV000346820 RCV000294205 VAR_058036 RCV000385219	72	E>D	Hemolytic anemia Southeast Asian ovalocytosis Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001125746 rs761763084 RCV001124760 CA8600655 RCV001125745	87	N>K	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinVar dbSNP ClinGen ExAC gnomAD
VAR_013784 rs28929480 RCV000019353 RCV003137536 CA127402	90	E>K	Variant assessed as Somatic; 0.0 impact. Hereditary spherocytosis type 4 SPH4; Cape Town [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000334118 CA8600651 RCV001355054 RCV000386246 RCV000275834 rs538778224	96	R>C	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2047435499 RCV001124758 RCV001124759 RCV001124757	107	L>F	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001124756 RCV001121982 rs2047435077 RCV001121983	115	T>I	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinVar dbSNP
CA127394 RCV001121978 VAR_013785 RCV000019346 rs121912749	130	G>R	Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 SPH4; Fukoka [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_013786	147	P>S	SPH4; Mondego [UniProt]	Yes	UniProt
CA127385 rs56361140 RCV002514115 RCV000019339	150	R>*	Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001213064 CA8600598 RCV002504253 rs55840505	152	E>K	Southeast Asian ovalocytosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000372661 RCV001812856 RCV000315657 rs145041032 CA8600597 RCV000262760	153	L>M	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8600562 rs147390654 RCV001127763 RCV000756654 RCV001127764 RCV000253978 RCV001127762 RCV000709888	180	R>H	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001124654 RCV001123585 RCV001124653 CA8600493 rs779054292	233	R>C	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000304240 RCV000391038 RCV000361153 CA10649393 rs779054292	233	R>G	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8600487 RCV001123584 RCV001123583 rs141605301 RCV001123582 RCV001221611	236	F>V	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001123581 RCV001123580 rs764833865 RCV001123579 CA8600484	240	P>L	Hemolytic anemia Variant assessed as Somatic; 0.0 impact. Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001059827 RCV001123578 RCV001127676 CA8600480 RCV001127677 rs148170067	245	V>M	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001127670 RCV001241221 rs746406399 RCV001127671 CA8600454 RCV001127672	276	I>V	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_013787	285	A>D	SPH4; Boston [UniProt]	Yes	UniProt
RCV000350082 RCV000292781 RCV001050523 CA8600428 rs140424071 RCV000401141	295	R>H	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA127374 VAR_000800 RCV001811190 rs28931583 RCV000019332	327	P>R	Hereditary spherocytosis type 4 SPH4; Tuscaloosa [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000019338 CA127383 rs121912742	330	Q>*	Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs750930293 RCV002477748 RCV000760412 CA399788576 COSM979930	344	R>*	large_intestine Southeast Asian ovalocytosis Variant assessed as Somatic; impact. endometrium [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001124571 CA8600364 rs13306776 RCV001124569 RCV001124570 RCV002558229	384	R>H	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2047407019 RCV002227254 RCV001197162	385	D>H	Cryohydrocytosis [ClinVar]	Yes	ClinVar dbSNP
RCV001349281 COSM3402933 RCV002476608 CA8600361 rs201280873	387	R>Q	Variant assessed as Somatic; 0.0 impact. Southeast Asian ovalocytosis central_nervous_system [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8600353 RCV001306392 RCV002493607 rs768426818	394	L>P	Southeast Asian ovalocytosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs150913170 CA8600351 RCV002545140 RCV001324031	398	T>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001377074 RCV001807735 RCV000019329 RCV001849272 RCV000019330 RCV001536118 rs769664228	400	A>missing	Distal renal tubular acidosis Southeast Asian ovalocytosis Renal tubular acidosis, distal, 4, with hemolytic anemia Malaria, cerebral, resistance to [ClinVar]	Yes	ClinVar dbSNP
VAR_000801	400	A>del	SAO and DRTA4; increased rigidity of the erythrocyte membrane leading to increased resistance to shear stress and increased resistance to P.falciparum [UniProt]	Yes	UniProt
RCV001123486 RCV001124565 RCV001123487 CA8600349 rs141751197	401	F>C	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000376413 rs201821517 RCV000318444 CA8600344 RCV000284250	409	V>I	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001127590 RCV001362841 rs142905862 RCV001127591 CA8600338 RCV001127589	420	A>T	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1555596165 CA399787649 RCV000655904	441	L>R	Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_087559 rs754973425 CA8600298 RCV003138131 RCV002463585	444	T>N	Renal tubular acidosis, distal, 4, with hemolytic anemia DRTA4; decreased expression; decreased stability; no effect on dimerization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_013789	455	G>E	SPH4; Benesov [UniProt]	Yes	UniProt
VAR_058038	455	G>R	SPH4; Yamagata [UniProt]	Yes	UniProt
rs1555596072 CA399786001 RCV000655902	486	Y>*	Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000019350 CA127399 RCV001851941 RCV002496417 COSM187667 rs28931584 RCV001254881 VAR_013791	488	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine Southeast Asian ovalocytosis Renal tubular acidosis, distal, 4, with hemolytic anemia Hereditary spherocytosis type 4 SPH4; Coimbra; also in AR-dRTA [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
rs1398477044 CA399785930 VAR_013792	490	R>C	Variant assessed as Somatic; impact. SPH4; Bicetre I [NCI-TCGA, UniProt]	Yes	ClinGen UniProt NCI-TCGA TOPMed dbSNP gnomAD
COSM3387932 CA399785928 RCV001001226 RCV002550748 rs1598299485 VAR_058039	490	R>H	pancreas SPH4; Pinhal [Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs757478694 RCV002505702 CA8600256 RCV001125480 RCV001124482 RCV001124481	491	V>M	Hemolytic anemia Variant assessed as Somatic; 0.0 impact. Southeast Asian ovalocytosis Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000658783 COSM252824 CA8600255 RCV002499135 rs751771382	494	G>S	ovary Variant assessed as Somatic; 0.0 impact. Southeast Asian ovalocytosis [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002507278 CA399785495 rs745839527 RCV000722947 COSM1383635	514	R>H	large_intestine Southeast Asian ovalocytosis Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001029999 VAR_000802 CA290930673 rs868742796	518	R>C	Variant assessed as Somatic; impact. Autosomal dominant distal renal tubular acidosis SPH4; Dresden [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP
RCV002524424 CA399785265 RCV000505669 rs1555596013	525	S>F	Autosomal dominant distal renal tubular acidosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2047398183 RCV002291023	538	S>missing	Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000323184 rs886052998 RCV000283388 RCV000380114 CA10639800	546	D>G	Hemolytic anemia Spherocytosis, Dominant Distal Renal Tubular Acidosis, Dominant [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002504487 CA399784102 rs201228206 RCV001316344 CA8600205 RCV002543690	587	M>L	Southeast Asian ovalocytosis Inborn genetic diseases [ClinVar]	Yes	ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP
VAR_015104 rs121912745 RCV000681873 CA127388 RCV000019341 RCV000763403 RCV001328227	589	R>C	Southeast Asian ovalocytosis Autosomal dominant distal renal tubular acidosis Renal tubular acidosis DRTA1; reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N-glycan chain [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001849273 RCV001387018 RCV000019340 CA127387 RCV002513120 rs121912744 VAR_015105	589	R>H	Distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis Inborn genetic diseases DRTA1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000019343 RCV001851940 VAR_015106 rs121912745 CA127390	589	R>S	Autosomal dominant distal renal tubular acidosis DRTA1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121912754 CA290929106 VAR_039292	602	R>H	DRTA4 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
rs121912754 CA127405 RCV000019357	602	R>P	Renal tubular acidosis, distal, 4, with hemolytic anemia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001328264 CA10581267 rs878853002 RCV000224119 VAR_058041	609	G>R	Renal tubular acidosis DRTA1; detected subapically and at the apical membrane as well as at the basolateral membrane in contrast to the normal basolateral appearance of wild-type protein [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_015107 rs121912746 CA127389 RCV000019342	613	S>F	Autosomal dominant distal renal tubular acidosis DRTA1; markedly increased red cell sulfate transport but almost normal red cell iodide transport [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA8600164 rs763988041 RCV001127478 RCV001123373 RCV001123372	643	S>F	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001127476 RCV001507896 rs121912757 CA127408 RCV001001070 RCV000019360 VAR_013800 RCV001127477 RCV001127475	646	R>Q	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 SW(a+) antigen [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs75731670 COSM1265956 RCV001125390 RCV001201773 RCV000019336 RCV001125389 CA127380 RCV001125391 VAR_000806	658	E>K	Hemolytic anemia oesophagus Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 Blood group--wright antigen (wr) WR(a) antigen [ClinVar, Cosmic, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_058042	663	M>K	SPH4; Tambau [UniProt]	Yes	UniProt
VAR_000807	663	M>del	SPH4; Osnabruck II [UniProt]	Yes	UniProt
CA8600145 RCV000622973 rs776831481	679	F>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs863225463 VAR_039293 CA215057 RCV000202408	687	L>P	Cryohydrocytosis CHC; Blackburn; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002496416 RCV001381365 VAR_015171 CA127391 rs121912748 RCV000019344	701	G>D	Southeast Asian ovalocytosis Renal tubular acidosis, distal, 4, with hemolytic anemia DRTA4 and dRTA-NRC; impairs expression at the cell membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_039294	705	D>Y	SPH4; Horam; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport [UniProt]	Yes	UniProt
VAR_013804	707	L>P	SPH4; Most [UniProt]	Yes	UniProt
VAR_013805	714	G>R	SPH4; Okinawa [UniProt]	Yes	UniProt
CA8600106 RCV000658782 RCV002536332 rs750490778	717	A>T	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs863225461 CA215058 VAR_039295 RCV000202410	731	S>P	Cryohydrocytosis CHC; Hemel; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA215059 rs863225462 VAR_039296 RCV000202413	734	H>R	Cryohydrocytosis CHC; Hurstpierpont; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000304165 RCV000342542 RCV000393610 CA10639799 rs886052997	737	A>V	Hemolytic anemia Spherocytosis, Dominant Distal Renal Tubular Acidosis, Dominant [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs886052996 RCV002487421 CA10650263 RCV000343888 RCV000291301 RCV000393731	748	G>E	Hemolytic anemia Southeast Asian ovalocytosis Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121912755 RCV000019358 VAR_013806 RCV002227042 CA210834	760	R>Q	Variant assessed as Somatic; impact. Hereditary spherocytosis type 4 SPH4; Prague II; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP
CA8600090 VAR_013807 RCV002227236 rs373916826 RCV000989925	760	R>W	Hereditary spherocytosis type 4 SPH4; Hradec Kralove [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD
RCV000019337 VAR_013808 rs121912741 CA127382	771	G>D	Hereditary spherocytosis type 4 SPH4; Chur [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000019356 VAR_039297 CA127404 rs121912753	773	S>P	Renal tubular acidosis, distal, with normal red cell morphology dRTA-NRC [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_013809	783	I>N	SPH4; Napoli II [UniProt]	Yes	UniProt
RCV001328266 rs2047339489	795	M>I	Renal tubular acidosis [ClinVar]	Yes	ClinVar dbSNP
RCV002499498 RCV001507891 CA8600043 rs766885976	796	G>A	Southeast Asian ovalocytosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs775095594 RCV003142050 RCV001123289 CA8600038 RCV001123287 RCV001123288 TCGA novel	801	S>R	Variant assessed as Somatic; impact. Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [NCI-TCGA, ClinVar]	Yes	NCI-TCGA ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_013810 rs1167814744 CA399780645	808	R>C	Variant assessed as Somatic; 0.0 impact. SPH4; Jablonec [NCI-TCGA, UniProt]	Yes	ClinGen UniProt NCI-TCGA dbSNP gnomAD
RCV003140049 CA290925289 RCV000655906 rs866727908 VAR_013811 COSM706172 RCV002290971	808	R>H	lung Variant assessed as Somatic; impact. Hereditary spherocytosis type 4 SPH4; Nara [Cosmic, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs387906566 RCV000019335	822	V>missing	Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinVar dbSNP
VAR_013812	834	H>P	SPH4; Birmingham [UniProt]	Yes	UniProt
rs121912750 RCV000019347 VAR_013813 CA127395	837	T>A	Hereditary spherocytosis type 4 SPH4; Tokyo [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_013814	837	T>M	SPH4; Philadelphia [UniProt]	Yes	UniProt
VAR_058043	837	T>R	SPH4; Nagoya [UniProt]	Yes	UniProt
rs121912752 VAR_015109 RCV000019349	850	V>missing	Renal tubular acidosis, distal, 4, with hemolytic anemia DRTA4 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
rs121912752 VAR_015109	850	V>del	DRTA4 [UniProt]	Yes	UniProt dbSNP
COSM1740375 VAR_000808 RCV000989924 RCV000388319 CA127392 rs2285644 RCV000019345 RCV001127356 RCV000248753 RCV000974422	854	P>L	Hemolytic anemia Autosomal dominant distal renal tubular acidosis haematopoietic_and_lymphoid_tissue Hereditary spherocytosis type 4 Di(a)/Memphis-II antigen [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001536017 rs121912751 RCV001849274 RCV000761459 CA127396 VAR_015108 RCV000019348 RCV002514116	858	A>D	Distal renal tubular acidosis Southeast Asian ovalocytosis Renal tubular acidosis, distal, 4, with hemolytic anemia Autosomal dominant distal renal tubular acidosis DRTA1; impairs expression at the cell membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs5026 CA8599996 RCV000333719 VAR_014619 RCV000259837 RCV000755389 RCV000253682 RCV000373059	862	V>I	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002247370 RCV002054448 RCV000991183 VAR_013815 CA127410 RCV001124275 RCV001126941 rs121912759 RCV001126942 RCV000019361	868	P>L	Acanthocytosis due to band 3 ht Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 acanthocytosis; slightly increases transporter activity; impairs expression at the cell membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000019354 CA127403 rs28931585 VAR_013816 RCV001093444	870	R>W	Variant assessed as Somatic; impact. Hereditary spherocytosis type 4 SPH4; Prague III [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV002476070 CA8599991 RCV000518857 rs781396793	871	R>H	Southeast Asian ovalocytosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8599989 RCV002480885 RCV001328265 rs747337202	872	V>I	Southeast Asian ovalocytosis Renal tubular acidosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8599985 rs765911147 RCV000263312 RCV000318381 RCV000358059	877	I>T	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs189300762 RCV001316920 RCV002476476	901	R>P	Southeast Asian ovalocytosis [ClinVar]	Yes	ClinVar dbSNP
rs201265160 RCV000054610 RCV000346002 RCV000306677 CA216108 RCV000391446	901	R>W	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002070082 rs199694087 RCV001127262 RCV002249736 RCV001127261 RCV001127260 CA8599948	906	E>Q	Hemolytic anemia Autosomal dominant distal renal tubular acidosis Hereditary spherocytosis type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001247448 rs2047328405 RCV002499429	909	M>T	Southeast Asian ovalocytosis [ClinVar]	Yes	ClinVar dbSNP
CA290937209 rs777378002	2	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8600775 rs777378002	2	E>Q		No	ClinGen ExAC gnomAD
rs781547181 CA8600749	9	E>G		No	ClinGen ExAC gnomAD
CA290936893 rs867756325	9	E>K		No	ClinGen Ensembl
rs1199756918 CA399798603	10	D>V		No	ClinGen gnomAD
CA8600746 rs764087255	11	M>I		No	ClinGen ExAC TOPMed gnomAD
CA8600747 rs751603156	11	M>L		No	ClinGen ExAC
RCV001211036 CA290936873 rs1053490380	11	M>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1279075319 CA399798540	12	M>I		No	ClinGen TOPMed gnomAD
CA399798541 rs1340195567	12	M>R		No	ClinGen TOPMed gnomAD
CA399798542 rs1340195567	12	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	13	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600745 rs763516149	14	E>K		No	ClinGen ExAC gnomAD
rs1334113918 CA399798457	17	E>K		No	ClinGen gnomAD
CA8600744 rs55926998	19	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA399798359 rs1220892947	21	Y>C		No	ClinGen TOPMed
rs1465425529 CA399798178	25	D>V		No	ClinGen gnomAD
CA8600741 rs772984725	26	I>V		No	ClinGen ExAC TOPMed gnomAD
VAR_058035	27	P>H		No	UniProt
CA8600739 rs55637644	28	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399798087 rs1210511088	29	S>A		No	ClinGen TOPMed gnomAD
CA290936862 rs879030630	29	S>F		No	ClinGen gnomAD
TCGA novel	30	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879106259 CA290936844	31	M>I		No	ClinGen TOPMed gnomAD
rs55773290 CA8600737	31	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290936861 rs990089479	31	M>L		No	ClinGen TOPMed gnomAD
CA8600738 rs55773290	31	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs56312419 CA8600735	34	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1271763556 CA399798014	35	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	36	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600710 rs755063758	38	D>L		No	ClinGen ExAC
CA8600708 rs149644876	38	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8600707 rs5035	38	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399796950 rs1490869125	39	T>I		No	ClinGen gnomAD
CA399796940 rs1355116360	41	A>S		No	ClinGen gnomAD
rs756472075 CA8600703	44	T>K		No	ClinGen ExAC gnomAD
rs34700496 CA290936189 VAR_036693	45	D>E		No	ClinGen UniProt Ensembl dbSNP
CA290936171 rs895769487	47	H>N		No	ClinGen TOPMed
CA8600702 rs751216460	52	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762611304 CA8600700	53	G>C		No	ClinGen ExAC gnomAD
CA399796807 rs1343209793	53	G>D		No	ClinGen TOPMed gnomAD
CA8600699 rs542327721	56	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA399796700 rs764706733	57	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8600681 rs764706733	57	V>L		No	ClinGen ExAC TOPMed gnomAD
rs766170301 CA8600678	59	V>E		No	ClinGen ExAC gnomAD
CA8600677 rs760664657	60	E>A		No	ClinGen ExAC gnomAD
CA8600676 rs369101481	60	E>D		No	ClinGen ESP ExAC gnomAD
CA8600671 rs768773486	67	D>E		No	ClinGen ExAC gnomAD
rs762102370 CA399796516	67	D>H		No	ClinGen ExAC gnomAD
rs762102370 CA8600673	67	D>Y		No	ClinGen ExAC gnomAD
CA399796500 rs13306787 RCV000756656	68	E>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs267604902 CA399796467	69	K>N		No	ClinGen TOPMed gnomAD
rs1410054223 CA399796479	69	K>R		No	ClinGen gnomAD
rs770137241 CA8600668	72	E>A		No	ClinGen ExAC gnomAD
CA8600669 rs780200225	72	E>K		No	ClinGen ExAC gnomAD
VAR_039291 rs781490287 CA8600666	73	L>M		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs757668165 CA399796357	75	W>G		No	ClinGen ExAC TOPMed gnomAD
rs757668165 CA8600665	75	W>R		No	ClinGen ExAC TOPMed gnomAD
CA8600663 rs778603628	76	M>I		No	ClinGen ExAC gnomAD
rs752316872 CA8600664	76	M>L		No	ClinGen ExAC gnomAD
CA399796322 RCV000722657 rs1567834917	77	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs186542577 COSM3190909 CA8600662	78	A>V	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs376688172 CA8600660	79	A>E		No	ClinGen ESP ExAC gnomAD
COSM1640711 rs376688172 CA8600659	79	A>V	stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA290935467 COSM175389 rs199535281	80	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM472881 CA8600657 rs372860708	80	R>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA290935460 rs372860708	80	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1598302037 RCV001002044 CA399796273	81	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1487738715 CA399796283	81	W>R		No	ClinGen TOPMed
CA399796264 rs1481733360	82	V>M		No	ClinGen gnomAD
rs1222201466 CA399796217	86	E>K		No	ClinGen TOPMed
rs1457516456 CA399796189	88	L>V		No	ClinGen gnomAD
CA8600654 rs145054469	93	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380205574 CA399796062	95	G>R		No	ClinGen gnomAD
rs1380205574 CA399796061	95	G>S		No	ClinGen gnomAD
CA8600650 rs141244582	96	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141244582 CA8600649	96	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs538778224 CA8600652	96	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290935403 rs879167300	97	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	98	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600648 rs771281363	98	H>Y		No	ClinGen ExAC gnomAD
CA399795964 rs1207640724	99	L>F		No	ClinGen gnomAD
CA8600645 rs778203864	106	S>N		No	ClinGen ExAC gnomAD
rs367688756 CA290935385	108	L>P		No	ClinGen ESP TOPMed
CA8600644 rs753548782	109	E>D		No	ClinGen ExAC gnomAD
rs1321415255 CA399795715	109	E>G		No	ClinGen gnomAD
rs1308401874 CA399795729	109	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs13306774 CA8600642	111	R>C		No	ClinGen ExAC TOPMed gnomAD
rs13306774 CA8600641	111	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767615788 CA8600640	111	R>H		No	ClinGen ExAC gnomAD
CA8600639 rs767615788	111	R>P		No	ClinGen ExAC gnomAD
CA290935376 VAR_014613 rs5037	112	R>S		No	ClinGen UniProt Ensembl dbSNP
rs1305089612 CA399795652	113	V>D		No	ClinGen gnomAD
rs142757938 CA8600637 RCV000883456	113	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	116	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399795585 rs1417908221	117	G>C		No	ClinGen gnomAD
rs367854785 CA290935264	117	G>D		No	ClinGen ESP gnomAD
CA399795483 rs1441074553	118	T>A		No	ClinGen gnomAD
CA399795431 rs1442706372	121	L>V		No	ClinGen TOPMed
CA399795345 rs1162787335	124	Q>K		No	ClinGen TOPMed
rs1265248505 CA399795275	127	S>A		No	ClinGen TOPMed gnomAD
rs1270796249 CA399795169	130	G>A		No	ClinGen gnomAD
CA8600614 rs766469709	131	V>L		No	ClinGen ExAC TOPMed gnomAD
CA399795114 rs1453908890	132	A>V		No	ClinGen gnomAD
rs772316375 CA399795072	134	Q>E		No	ClinGen ExAC gnomAD
CA8600611 rs772316375	134	Q>K		No	ClinGen ExAC gnomAD
rs748601363 CA8600610	135	L>V		No	ClinGen ExAC gnomAD
CA8600609 rs774589011	137	D>G		No	ClinGen ExAC gnomAD
rs953305379 CA290935174	138	R>G		No	ClinGen TOPMed
CA399794889 rs1168035577	141	F>L		No	ClinGen gnomAD
CA8600607 rs745550262	143	D>A		No	ClinGen ExAC TOPMed gnomAD
rs769500332 CA8600608	143	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1270521728 CA399794783	144	Q>H		No	ClinGen TOPMed
rs780804585 CA399794785	144	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs780804585 CA8600606	144	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8600605 rs756879780	145	I>T		No	ClinGen ExAC gnomAD
rs777835021 CA8600603	146	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746893322 CA8600604	146	R>W		No	ClinGen ExAC gnomAD
rs1273936626 CA399794714	148	Q>R		No	ClinGen TOPMed gnomAD
CA8600601 rs56361140	150	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761306530 CA8600600	150	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM3402934 rs761306530 CA8600599	150	R>Q	Variant assessed as Somatic; 9.282e-05 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs145041032 CA290935130	153	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8600594 rs750879183	155	R>Q		No	ClinGen ExAC gnomAD
rs536419419 CA8600595	155	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353631860 CA399794431	161	H>N		No	ClinGen gnomAD
rs1353631860 CA399794429	161	H>Y		No	ClinGen gnomAD
CA399794388 rs1329108175	162	S>N		No	ClinGen gnomAD
CA8600571 rs543366685	164	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	167	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282236934 CA399793954	171	G>A		No	ClinGen gnomAD
rs576351762 CA8600568	171	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8600569 rs576351762	171	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399793950 rs771529404	172	G>C		No	ClinGen ExAC gnomAD
CA8600567 rs771529404	172	G>S		No	ClinGen ExAC gnomAD
rs1222836115 COSM706167 CA399793937	172	G>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	173	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290934705 rs894383628	173	V>M		No	ClinGen TOPMed
TCGA novel	174	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201611359 CA399793875	175	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8600565 rs201611359	175	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399793857 rs1296269523	176	A>T		No	ClinGen gnomAD
CA399793849 rs1429887036	176	A>V		No	ClinGen gnomAD
TCGA novel	177	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	178	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600563 rs749020872	180	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs147390654 CA399793757	180	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8600564 rs749020872	180	R>S		No	ClinGen ExAC TOPMed gnomAD
CA399793715 rs1177351006	181	S>F		No	ClinGen gnomAD
CA399793693 rs1261071952	183	D>N		No	ClinGen gnomAD
rs267604901 CA290934678	184	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8600561 rs756316460	186	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	187	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000413863 rs1057518222	190	P>missing		No	ClinVar dbSNP
rs1324418745 CA399793519	191	Q>E		No	ClinGen TOPMed
CA8600557 rs144291541	192	H>N		No	ClinGen ESP ExAC gnomAD
rs919382250 CA290934641	192	H>Q		No	ClinGen Ensembl
CA399793484 rs1262134837	192	H>R		No	ClinGen gnomAD
CA399793440 rs1567834170	193	S>F		No	ClinGen Ensembl
rs1347029746 CA399793467	193	S>P		No	ClinGen gnomAD
rs764757003 CA8600555	196	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1292757264 CA399793280	199	L>V		No	ClinGen gnomAD
rs1567834132 CA399793233	200	F>L		No	ClinGen Ensembl
rs879205711 CA290934628	202	E>K		No	ClinGen TOPMed gnomAD
rs1036172070 CA290933268	205	D>N		No	ClinGen Ensembl
CA290933256 rs867903049	210	G>E		No	ClinGen Ensembl
rs1444507124 CA399791234	211	H>P		No	ClinGen gnomAD
CA8600522 rs769631746	211	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1040189915 CA290933220	213	P>S		No	ClinGen TOPMed
CA399791137 rs1247999816	216	I>V		No	ClinGen gnomAD
TCGA novel	218	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150515870 CA399791027	220	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA399791023 rs150515870	220	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150515870 CA8600519	220	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM395636 rs1194814450 CA399791038	220	I>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8600518 rs770991877	221	P>L		No	ClinGen ExAC gnomAD
CA290933206 rs374043643	221	P>S		No	ClinGen Ensembl
CA8600517 rs747267972	222	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748658155 COSM3190895 CA8600514	227	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1306566163 CA399790840	228	L>M		No	ClinGen TOPMed gnomAD
rs1184180897 CA399790801	229	V>A		No	ClinGen TOPMed
CA290933169 rs878921797	229	V>M		No	ClinGen TOPMed gnomAD
rs1375641608 CA399790755	231	V>L		No	ClinGen gnomAD
rs748181631	232	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs755520925 CA8600512	232	G>S		No	ClinGen ExAC gnomAD
rs369164512 CA8600492	233	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369164512 CA399790608	233	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001290761 rs2047420220	234	A>missing		No	ClinVar dbSNP
CA8600490 rs780256979	234	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1201529952 CA399790588	234	A>V		No	ClinGen gnomAD
CA8600488 rs751211768	235	D>N		No	ClinGen ExAC TOPMed gnomAD
CA399790581 rs751211768	235	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs758064244 CA8600486	237	L>Q		No	ClinGen ExAC gnomAD
rs1598300978 CA399790486	238	E>D		No	ClinGen Ensembl
rs571740084 CA8600485	238	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399790470 rs1223096303	239	Q>*		No	ClinGen gnomAD
rs879026462 CA290932959	239	Q>L		No	ClinGen Ensembl
CA399790449 rs764833865	240	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	241	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753864472 CA8600482	242	L>P		No	ClinGen ExAC gnomAD
rs1319543511 CA399790349	244	F>V		No	ClinGen gnomAD
CA399790331 rs148170067	245	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1598300938 CA399790274	247	L>R		No	ClinGen Ensembl
CA8600476 rs774242801	250	A>T		No	ClinGen ExAC gnomAD
TCGA novel	251	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399790157 rs1480134522	251	A>V		No	ClinGen TOPMed
CA399790094 rs1410790512	253	L>P		No	ClinGen TOPMed
rs773761086 CA8600474	255	A>V		No	ClinGen ExAC TOPMed gnomAD
CA399789988 rs1598300908	256	V>G		No	ClinGen Ensembl
CA399790006 rs1405212447 COSM1521436	256	V>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8600470 rs142195740	257	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8600469 rs758007015	258	L>M		No	ClinGen ExAC gnomAD
CA8600468 rs138948233	258	L>P		No	ClinGen ESP ExAC gnomAD
rs778266623 CA8600467	259	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1598300874 CA399789891	260	V>G		No	ClinGen Ensembl
CA290932771 rs878929109	261	P>H		No	ClinGen TOPMed
rs879205282 CA290932772	261	P>T		No	ClinGen TOPMed
CA399789851 rs1219783061	262	I>V		No	ClinGen gnomAD
rs145071135 CA8600464 RCV001813039	263	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201400208 CA8600463 COSM3712333	263	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs767437892 CA8600461	266	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1406443344 CA399789623	271	P>S		No	ClinGen gnomAD
TCGA novel	272	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879088971 CA290932758	273	A>D		No	ClinGen TOPMed
CA8600458 rs764079011	273	A>S		No	ClinGen ExAC gnomAD
CA8600455 rs142866653	275	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142866653 CA8600456	275	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399789513 rs1451312246	275	H>R		No	ClinGen gnomAD
TCGA novel	275	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290932713 rs142866653	275	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399789448 rs1239447378	277	D>E		No	ClinGen TOPMed gnomAD
rs138288425 CA8600452	277	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437347148 CA399789337	282	G>V		No	ClinGen gnomAD
CA399789319 rs1207355825	283	R>L		No	ClinGen TOPMed gnomAD
CA399789307 rs1207355825	283	R>Q		No	ClinGen TOPMed gnomAD
rs1273740834 CA399789329	283	R>W		No	ClinGen gnomAD
CA8600450 rs778684107	285	A>S		No	ClinGen ExAC gnomAD
CA8600449 rs754599702	286	A>T		No	ClinGen ExAC gnomAD
rs1247242334 CA399789227	286	A>V		No	ClinGen gnomAD
rs1285629503 CA399789211	287	T>N		No	ClinGen gnomAD
rs1439510759 CA399789203	288	L>V		No	ClinGen gnomAD
rs1328998568 CA399789167	289	M>I		No	ClinGen gnomAD
rs150403270 CA8600448	289	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs769465410 CA8600429	295	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769465410 CA399788992	295	R>G		No	ClinGen ExAC TOPMed gnomAD
rs140424071 CA399788988	295	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs769465410 CA290932140	295	R>S		No	ClinGen ExAC TOPMed gnomAD
rs781169594 CA290932128	296	I>V		No	ClinGen TOPMed gnomAD
rs2047412306 RCV001813098	297	D>G		No	ClinVar dbSNP
TCGA novel	299	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399788905 rs781245575	300	M>L		No	ClinGen ExAC gnomAD
CA399788899 rs1369716888	300	M>T		No	ClinGen gnomAD
CA8600427 rs781245575	300	M>V		No	ClinGen ExAC gnomAD
CA8600426 rs757158425	304	R>*		No	ClinGen ExAC gnomAD
CA8600425 rs777464599	304	R>P		No	ClinGen ExAC gnomAD
RCV001222717 rs777464599 CA8600424	304	R>Q		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA399788807 rs1196660376	306	E>D		No	ClinGen TOPMed gnomAD
rs1322840729 CA399788804	307	L>M		No	ClinGen gnomAD
CA399788786 rs1405585474	309	H>R		No	ClinGen TOPMed gnomAD
rs753925555 CA8600419	312	E>A		No	ClinGen ExAC gnomAD
rs1037040116 CA290932082	313	G>A		No	ClinGen TOPMed
rs1206004419 CA399788733	317	C>F		No	ClinGen TOPMed
CA8600418 rs766841307	317	C>G		No	ClinGen ExAC gnomAD
CA399788735 rs1206004419	317	C>Y		No	ClinGen TOPMed
rs761116611 CA8600417	318	S>C		No	ClinGen ExAC gnomAD
CA399788727 rs1202141330	318	S>N		No	ClinGen gnomAD
CA8600416 rs773576791	320	V>L		No	ClinGen ExAC
CA8600415 rs772367319	322	P>S		No	ClinGen ExAC gnomAD
CA8600412 rs769412359	325	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8600411 rs745317710	326	A>T		No	ClinGen ExAC gnomAD
rs554068015 CA8600410	327	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399788677 rs28931583	327	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs28931583 CA399788676	327	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399788678 rs554068015	327	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8600408 rs141370158 COSM3378213	329	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8600406 rs752913557	331	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1467655276 CA399788650	332	L>M		No	ClinGen gnomAD
rs753913623 CA8600403	337	P>L		No	ClinGen ExAC TOPMed gnomAD
CA290931975 rs939529220	337	P>T		No	ClinGen Ensembl
rs761222442 CA399788589	341	E>D		No	ClinGen ExAC gnomAD
CA8600402 rs766390834	341	E>Q		No	ClinGen ExAC gnomAD
CA399788583 rs1470604604	343	L>I		No	ClinGen TOPMed
rs767916903 CA8600399	344	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371106409 COSM1383638 CA290931957	346	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA8600398 rs199721620	346	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs371106409 CA399788566	346	R>S		No	ClinGen ESP TOPMed gnomAD
rs1249061185 CA399788537	350	S>N		No	ClinGen gnomAD
CA399788530 rs1203172738	351	P>S		No	ClinGen gnomAD
CA8600397 rs774867548	355	D>G		No	ClinGen ExAC gnomAD
TCGA novel	356	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399788487 rs1243523699	357	S>R		No	ClinGen TOPMed gnomAD
rs1381691623 CA399788474	359	Y>S		No	ClinGen TOPMed gnomAD
CA290931899 rs762128423	361	G>A		No	ClinGen gnomAD
rs762128423 CA399788458	361	G>D		No	ClinGen gnomAD
CA8600395 rs759297000	362	L>I		No	ClinGen ExAC gnomAD
rs1330502780 CA399788429	364	L>F		No	ClinGen gnomAD
CA8600376 rs765912543	364	L>S		No	ClinGen ExAC gnomAD
rs144927348 CA8600377	364	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA399788416 rs1555596278	366	G>E		No	ClinGen Ensembl
rs1404826934 CA399788413	367	G>S		No	ClinGen gnomAD
rs1280044057 CA399788404	368	P>L		No	ClinGen TOPMed
CA8600372 rs748103050	369	D>E		No	ClinGen ExAC TOPMed gnomAD
rs771954160 CA8600373	369	D>G		No	ClinGen ExAC TOPMed gnomAD
CA399788385 rs1361719688	371	P>S		No	ClinGen gnomAD
rs1472653057 RCV001813166	373	Q>*		No	ClinVar dbSNP
rs1472653057 CA399788375	373	Q>K		No	ClinGen gnomAD
rs768475898 CA8600370	373	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs895437981 CA290931642	374	Q>E		No	ClinGen TOPMed
rs1211811938 CA399788366	374	Q>R		No	ClinGen TOPMed
CA399788357 rs1490176926	375	T>I		No	ClinGen gnomAD
rs768031591 CA8600369	376	G>D		No	ClinGen ExAC TOPMed gnomAD
CA399788343 rs1211473668	378	L>F		No	ClinGen gnomAD
CA290931621 rs939561010 COSM1383637	380	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	382	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600367 rs563083166	382	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs745866076 CA8600366	383	V>L		No	ClinGen ExAC gnomAD
CA8600365 rs781454553	384	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781454553 CA399788309	384	R>S		No	ClinGen ExAC TOPMed gnomAD
rs531459694 CA8600362 COSM979929	387	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8600359 RCV001002331 rs765891978	388	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8600358 rs760404726	388	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8600360 rs765891978	388	R>S		No	ClinGen ExAC TOPMed gnomAD
rs749883402 COSM1383636 CA8600357	389	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8600356 rs767059191	389	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8600355 rs761704181	391	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774339293 CA8600354	393	Y>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1248859174 CA399788240	396	D>N		No	ClinGen TOPMed gnomAD
rs1261484009 CA399788206	401	F>L		No	ClinGen gnomAD
rs781401079 CA8600348	402	S>G		No	ClinGen ExAC TOPMed gnomAD
CA290931509 rs966331349	403	P>S		No	ClinGen gnomAD
rs1326337460 CA399788147	405	V>A		No	ClinGen gnomAD
rs1567832529 CA399788140	406	L>P		No	ClinGen Ensembl
CA399788120 rs1413411499	410	I>V		No	ClinGen TOPMed gnomAD
rs1402242061 CA399788105	412	I>V		No	ClinGen gnomAD
CA290931491 rs559888630	413	Y>C		No	ClinGen 1000Genomes TOPMed
rs779355603 CA8600342	416	A>V		No	ClinGen ExAC gnomAD
RCV001812495 rs2047405727	417	L>P		No	ClinVar dbSNP
rs1451037792 CA399788060	419	P>S		No	ClinGen gnomAD
TCGA novel	420	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290931458 rs142905862	420	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399788053 rs1443101287	420	A>V		No	ClinGen gnomAD
rs374741150 CA8600336	424	G>S		No	ClinGen ESP ExAC gnomAD
rs1275956651 CA399788023	425	G>S		No	ClinGen gnomAD
CA8600333 rs769681011	428	G>*		No	ClinGen ExAC
rs1048804130 CA290931240 VAR_058037	429	E>D	NFLD+ antigen [UniProt]	No	ClinGen UniProt TOPMed dbSNP gnomAD
CA399787858 rs373768879	432	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200576400 CA8600307	432	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8600306 rs200576400	432	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_013788 CA8600308 rs373768879	432	R>W	Variant assessed as Somatic; 0.0 impact. ELO antigen [NCI-TCGA, UniProt]	No	ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1328024172 CA399787797	434	Q>H		No	ClinGen gnomAD
CA399787803 rs1598299792	434	Q>R		No	ClinGen Ensembl
CA8600305 rs780426059	435	M>V		No	ClinGen ExAC gnomAD
CA399787732 rs1598299778	437	V>A		No	ClinGen Ensembl
rs746715222 CA8600303	438	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	439	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600301 rs370924118	440	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_014614 rs5018 CA290931162	442	I>F		No	ClinGen UniProt Ensembl dbSNP
CA399787592 rs754973425	444	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1389616126 CA399787573	445	A>V		No	ClinGen gnomAD
rs149362848 CA8600297	446	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290931121 rs977989614	447	Q>H		No	ClinGen Ensembl
CA399787502 rs1425090317	451	F>L		No	ClinGen gnomAD
CA8600294 rs773546206	452	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1160745315 CA399787476	452	A>V		No	ClinGen TOPMed
CA399787469 rs1240770803	453	L>P		No	ClinGen gnomAD
CA399787445 rs1464215226	455	G>A		No	ClinGen TOPMed gnomAD
CA8600292 rs774299761	456	A>S		No	ClinGen ExAC gnomAD
CA8600291 rs774299761	456	A>T		No	ClinGen ExAC gnomAD
rs769110150 CA8600290	458	P>T		No	ClinGen ExAC gnomAD
CA399787379 rs1219684112	462	V>F		No	ClinGen gnomAD
CA399787364 rs1295178036 COSM3772932	463	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1567832203 CA399787330	465	S>L		No	ClinGen Ensembl
CA290931017 rs865978722	466	G>E		No	ClinGen Ensembl
RCV001316152 rs2047401850	467	P>L		No	ClinVar dbSNP
CA399787312 rs1245399873	467	P>S		No	ClinGen gnomAD
CA399787283 rs1385634590	470	V>L		No	ClinGen TOPMed
rs770185997 CA8600287	474	A>G		No	ClinGen ExAC gnomAD
rs746637879 CA8600286	476	F>S		No	ClinGen ExAC gnomAD
CA8600285 rs777540700	477	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	478	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA127406 RCV000019359 rs121912756 VAR_013790	480	E>K	Variant assessed as Somatic; 4.657e-05 impact. FR(a+) antigen [NCI-TCGA, UniProt]	No	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
rs199607239 CA8600265	481	T>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM380424 rs747781974 CA8600264	482	N>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs544557335 CA8600262	483	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1483329396 CA399786024	485	E>D		No	ClinGen gnomAD
CA8600260 rs780078743	487	I>L		No	ClinGen ExAC gnomAD
CA399785980 rs1242338114	487	I>N		No	ClinGen TOPMed gnomAD
rs1359458155 CA399785892	492	W>*		No	ClinGen gnomAD
TCGA novel	495	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399785785 RCV001000922 rs1598299453	497	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA290930799 rs752788858	498	I>F		No	ClinGen ExAC TOPMed gnomAD
CA8600252 rs752788858	498	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1425061857 CA399785768	498	I>T		No	ClinGen gnomAD
CA290930779 rs200420337	499	L>P		No	ClinGen 1000Genomes
rs146305310 CA8600251	501	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA399785702 rs759996988	503	L>V		No	ClinGen ExAC TOPMed gnomAD
rs771251554 CA8600248	504	V>A		No	ClinGen ExAC gnomAD
rs1487999665 CA399785639	505	V>E		No	ClinGen gnomAD
CA8600247 rs761518956	505	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1161833327 CA399785622	506	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	508	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs45568837 CA8600244 COSM1521437 VAR_025090 RCV000883455	508	E>K	lung [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA399785567 rs1243220420	509	G>S		No	ClinGen gnomAD
TCGA novel	510	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567831936 CA399785538	510	S>R		No	ClinGen Ensembl
CA8600243 rs775170265	511	F>L		No	ClinGen ExAC TOPMed gnomAD
CA290930694 rs926697680	512	L>P		No	ClinGen Ensembl
rs374488470 CA290930700	512	L>V		No	ClinGen ESP TOPMed
rs769722806 CA8600242	514	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745839527 CA8600241	514	R>P		No	ClinGen ExAC gnomAD
rs1386568242 CA399785466	516	I>T		No	ClinGen gnomAD
CA399785446 rs1391855595	517	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8600240 rs781007961	518	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747221430 CA8600238	521	Q>R		No	ClinGen ExAC gnomAD
rs1157852154 CA399785299	523	I>T		No	ClinGen gnomAD
TCGA novel	526	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399785169 rs1432411524	532	F>C		No	ClinGen gnomAD
CA399785149 rs1567831874	533	I>M		No	ClinGen Ensembl
CA290930643 rs868857711	540	L>R		No	ClinGen Ensembl
CA399785028 rs1267849574	541	I>F		No	ClinGen gnomAD
rs886052998 CA399784843	546	D>A		No	ClinGen Ensembl
CA290929561 VAR_000803 rs879202054	548	P>L	RB(A) antigen [UniProt]	No	ClinGen UniProt TOPMed dbSNP gnomAD
rs1337883145 CA399784798	548	P>S		No	ClinGen TOPMed
CA399784756 rs1254217958	550	Q>*		No	ClinGen gnomAD
VAR_013793	551	K>N	TR(A) antigen [UniProt]	No	UniProt
rs1598298532 CA399784738	551	K>Q		No	ClinGen Ensembl
VAR_000804	552	T>I	WARR antigen [UniProt]	No	UniProt
CA290929533 rs925053539	554	N>S		No	ClinGen Ensembl
CA399784668 rs1235151548	555	Y>C		No	ClinGen TOPMed
VAR_013794	555	Y>H	VG(a) antigen [UniProt]	No	UniProt
CA399784613 rs121912743	557	V>L	Blood group--waldner type (wd) [Ensembl]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA127377 rs121912743 RCV000019334 VAR_000805	557	V>M	Blood group--waldner type (wd) WD(a) antigen [Ensembl, UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_058040	561	P>A	NFLD+ antigen [UniProt]	No	UniProt
VAR_013795	561	P>S	BOW antigen [UniProt]	No	UniProt
rs551784583 CA8600219 VAR_013796	565	G>A	WU antigen [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_013797	566	P>A	KREP antigen [UniProt]	No	UniProt
rs1393742050 VAR_013798 CA399784425	566	P>S	PN(a) antigen [UniProt]	No	ClinGen UniProt Ensembl dbSNP
CA399784386 rs1331702687	568	P>H		No	ClinGen gnomAD
VAR_013799	569	N>K	BP(a) antigen [UniProt]	No	UniProt
rs753963152 CA8600216	569	N>S		No	ClinGen ExAC gnomAD
CA8600215 rs766724609	570	T>A		No	ClinGen ExAC gnomAD
rs1427615024 CA399784335	571	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1427615024 CA399784337	571	A>T		No	ClinGen gnomAD
CA399784280 rs1389266610	574	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8600212 rs768043242	576	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1406322619 CA399784259	576	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	577	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775348499 CA8600210	578	M>T		No	ClinGen ExAC gnomAD
COSM187666 CA290929441 rs867278946	579	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs369015220 CA290929427	580	G>C		No	ClinGen ExAC TOPMed gnomAD
rs369015220 CA8600208	580	G>S		No	ClinGen ExAC TOPMed gnomAD
rs776210034 CA8600207	580	G>V		No	ClinGen ExAC gnomAD
rs142161945 CA8600206	581	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs5019 CA290929412 VAR_014615	586	M>L		No	ClinGen UniProt Ensembl dbSNP
rs1405169026 CA399784108	586	M>T		No	ClinGen gnomAD
rs879096190 CA290929410	587	M>T		No	ClinGen TOPMed gnomAD
rs201228206 CA399784103	587	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	590	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771896883 CA8600203	594	S>N		No	ClinGen ExAC gnomAD
COSM1521438 rs748352642 CA8600202	594	S>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1200242920 CA399784045	595	S>F		No	ClinGen TOPMed gnomAD
rs778941244 CA8600201	597	F>I		No	ClinGen ExAC gnomAD
rs1219368051 CA399784027	598	P>S		No	ClinGen TOPMed
TCGA novel	598	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399783986 rs1029692108	603	R>P		No	ClinGen gnomAD
rs1029692108 CA290929096	603	R>Q		No	ClinGen gnomAD
CA399783987 rs1468689028	603	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399783979 rs1179344795	604	V>A		No	ClinGen TOPMed
CA399783982 rs1317226571	604	V>F		No	ClinGen TOPMed gnomAD
rs1179344795 CA399783981	604	V>G		No	ClinGen TOPMed
CA290929081 rs575655181	606	G>R		No	ClinGen TOPMed gnomAD
rs1598298123 CA399783940	610	V>G		No	ClinGen Ensembl
rs759266589 CA8600190	611	P>L		No	ClinGen ExAC gnomAD
rs993990444 CA290929019	611	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs765965557 CA8600188	613	S>A		No	ClinGen ExAC gnomAD
CA290928973 rs766417093	614	I>F		No	ClinGen Ensembl
CA290928966 rs867959285	615	L>M		No	ClinGen Ensembl
rs865972695 CA290928964	617	M>I		No	ClinGen Ensembl
rs760578317 CA8600187	617	M>T		No	ClinGen ExAC gnomAD
rs1161348602 CA399783896	618	V>A		No	ClinGen gnomAD
CA399783893 rs1598298075	619	L>V		No	ClinGen Ensembl
TCGA novel	620	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	620	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399783876 rs1355368755	621	D>E		No	ClinGen TOPMed
CA399783883 rs1425064865	621	D>Y		No	ClinGen gnomAD
rs772007058 CA8600185	622	F>L		No	ClinGen ExAC gnomAD
TCGA novel	623	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399783831 rs1455807379	625	Q>*		No	ClinGen gnomAD
rs1254531126 CA399783814	626	D>N		No	ClinGen gnomAD
CA399783787 rs1464142736	627	T>I		No	ClinGen gnomAD
CA399783762 rs1292546389	629	T>I		No	ClinGen TOPMed gnomAD
CA399783766 rs1292546389	629	T>N		No	ClinGen TOPMed gnomAD
rs2047378030 RCV001813165	630	Q>H		No	ClinVar dbSNP
rs760240566 CA8600169	633	S>L		No	ClinGen ExAC TOPMed gnomAD
CA290928632 rs879114777	633	S>P		No	ClinGen gnomAD
rs760240566 CA399783579	633	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1470668954 CA399783568	634	V>L		No	ClinGen gnomAD
rs769977105 CA290928598	637	G>D		No	ClinGen Ensembl
rs761829570 CA8600166	640	V>M		No	ClinGen ExAC TOPMed gnomAD
VAR_013801 RCV002513121 CA127400 RCV000019352 rs121912758	646	R>W	SW(a+) antigen [UniProt]	No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA8600162 rs745877067	647	G>D		No	ClinGen ExAC gnomAD
CA399783241 rs1421570074	648	W>C		No	ClinGen gnomAD
rs372514760 VAR_013802 CA8600158	656	R>C	HG(a) antigen [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA8600157 rs758868427 VAR_013803	656	R>H	MO(a) antigen [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1273756688 CA399782973	657	S>A		No	ClinGen TOPMed
CA399782933 rs1253447708	658	E>G		No	ClinGen TOPMed
rs75731670 CA8600155	658	E>Q	Blood group--wright antigen (wr) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399782837 rs757109598	661	I>N		No	ClinGen ExAC gnomAD
CA8600152 rs757109598	661	I>T		No	ClinGen ExAC gnomAD
rs1243520646 CA399782749	665	F>L		No	ClinGen TOPMed
CA8600150 rs763783909	667	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8600148 rs368353943	668	A>T		No	ClinGen ESP ExAC gnomAD
CA399782702 rs1598297564	668	A>V		No	ClinGen Ensembl
rs199929662 CA290928466	670	P>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs1456105061 CA399782675	671	A>V		No	ClinGen gnomAD
CA8600147 rs765515997	674	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8600146 rs759861754	677	L>F		No	ClinGen ExAC TOPMed gnomAD
CA399782628 rs1320485974	678	I>T		No	ClinGen TOPMed
rs1567830080 CA399782614	679	F>C		No	ClinGen Ensembl
rs748887436 CA8600144	685	T>A		No	ClinGen ExAC gnomAD
rs143131877 CA8600142	686	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs143131877 CA8600141	686	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs5022 CA290927446 VAR_014616	688	I>V		No	ClinGen UniProt ESP TOPMed dbSNP gnomAD
VAR_014617 CA290927445 rs5023	690	S>G		No	ClinGen UniProt Ensembl dbSNP
CA399781873 rs1567829407	691	K>R		No	ClinGen Ensembl
rs769075267 CA8600120	692	P>S		No	ClinGen ExAC gnomAD
rs1382237805 CA399781856	694	R>C		No	ClinGen gnomAD
CA8600119 rs745505408	694	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA290927418 rs1043322954	696	M>I		No	ClinGen gnomAD
rs1459280961 CA399781823	698	K>N		No	ClinGen TOPMed
TCGA novel	699	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399781808 rs373796823	701	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373796823 CA8600116	701	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001812500 rs2047359576	704	L>P		No	ClinVar dbSNP
CA399781783 rs1598296762	705	D>N		No	ClinGen Ensembl
CA8600115 rs758335896	706	L>M		No	ClinGen ExAC TOPMed gnomAD
rs754880533 CA8600113	707	L>V		No	ClinGen ExAC gnomAD
CA8600111 rs753703632	709	V>G		No	ClinGen ExAC gnomAD
rs1200436383 CA399781763	709	V>I		No	ClinGen gnomAD
CA399781756 rs1282994460	710	V>I		No	ClinGen gnomAD
TCGA novel	711	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766559569 CA8600108	711	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1598296710 CA399781721	715	V>G		No	ClinGen Ensembl
rs1265303247 CA399781724	715	V>L		No	ClinGen TOPMed
rs762301702 CA8600104	721	M>I		No	ClinGen ExAC TOPMed gnomAD
CA290927319 rs552712872	721	M>L		No	ClinGen 1000Genomes
RCV001813132 rs2047358814	723	W>*		No	ClinVar dbSNP
rs887633016 CA290927304	723	W>L		No	ClinGen TOPMed
TCGA novel	724	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399781658 rs1314556956	725	S>N		No	ClinGen gnomAD
COSM436694 rs775748758 CA8600100	729	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8600099 rs770569237	730	R>C		No	ClinGen ExAC gnomAD
rs746691107 CA8600098	730	R>H		No	ClinGen ExAC gnomAD
CA399781629 rs746691107	730	R>L		No	ClinGen ExAC gnomAD
rs188698576 CA8600096	732	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748087778 CA8600095 COSM3518016	735	A>V	Variant assessed as Somatic; 4.656e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	737	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196071238 CA399781586	738	L>I		No	ClinGen gnomAD
rs754975303 CA8600092	741	M>I		No	ClinGen ExAC gnomAD
rs1040413479 CA290927257	744	A>P		No	ClinGen TOPMed
rs935383555 CA290927236	751	A>V		No	ClinGen TOPMed gnomAD
rs753634892 CA8600091	752	Q>H		No	ClinGen ExAC gnomAD
RCV001290766 rs2047357659	762	S>N		No	ClinVar dbSNP
rs756326359 CA399781409	765	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1567829187 CA399781407 RCV000722799	765	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA8600089 rs756326359	765	L>V		No	ClinGen ExAC TOPMed gnomAD
rs767620009 CA8600087	767	A>P		No	ClinGen ExAC gnomAD
rs767620009 COSM3402930 CA8600088	767	A>T	Variant assessed as Somatic; 0.0004477 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA399781393 rs1329261701	768	V>M		No	ClinGen gnomAD
CA8600086 rs757269124	770	V>L		No	ClinGen ExAC gnomAD
CA8600059 rs761601838	775	L>F		No	ClinGen ExAC TOPMed gnomAD
rs768345613 CA8600057	776	M>T		No	ClinGen ExAC gnomAD
rs773964173 CA8600058	776	M>V		No	ClinGen ExAC gnomAD
TCGA novel	777	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600056 rs749233224	778	P>L		No	ClinGen ExAC gnomAD
CA8600051 rs148317876	782	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8600052 rs148317876	782	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777827818 CA8600049	782	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8600050 rs777827818 COSM706171	782	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA290926439 rs888633992	784	P>S		No	ClinGen TOPMed
TCGA novel	785	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290926435 rs966055404	787	V>A		No	ClinGen Ensembl
rs1396448966 CA399781161	787	V>I		No	ClinGen gnomAD
rs1385615262 CA399781146	788	L>P		No	ClinGen TOPMed
rs755543358 CA8600045	793	L>F		No	ClinGen ExAC gnomAD
CA399781063 rs1279430800	795	M>V		No	ClinGen gnomAD
CA8600042 rs761550289	797	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	797	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8600041 rs753927017 COSM472879	798	T>M	lung kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753927017 CA399781028	798	T>R		No	ClinGen ExAC TOPMed gnomAD
CA8600040 rs763849606	799	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1486545465 CA399780988	802	G>S		No	ClinGen TOPMed gnomAD
rs868414493 CA290926411	805	L>F		No	ClinGen Ensembl
CA8600035 rs776380562	806	F>L		No	ClinGen ExAC TOPMed gnomAD
rs879062267 CA290925286	814	K>E		No	ClinGen TOPMed
CA399780558 rs770780637	814	K>N		No	ClinGen ExAC gnomAD
rs201389834 CA8600033	816	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8600032 rs777916348	817	K>R		No	ClinGen ExAC gnomAD
rs143794240 CA8600030	820	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8600029 rs143794240	820	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA290925253 rs1043937637	822	V>M		No	ClinGen Ensembl
CA8600028 rs371349671	824	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA399780413 rs780297314	825	V>F		No	ClinGen ExAC TOPMed gnomAD
rs780297314 CA8600027 COSM3787347	825	V>I	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM979922 CA8600025 rs756487315	827	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780549162 CA8600026	827	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA8600010 rs768851118	831	W>C		No	ClinGen ExAC TOPMed gnomAD
rs373517146 CA290925141	831	W>G		No	ClinGen ExAC TOPMed gnomAD
rs373517146 CA8600011	831	W>R		No	ClinGen ExAC TOPMed gnomAD
rs571376371 CA8600009	832	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_014618 rs5025 CA8600008	832	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs5025 CA399780248	832	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571376371 RCV001223955	832	R>S		No	ClinVar dbSNP
CA8600007 rs756712442	834	H>N		No	ClinGen ExAC gnomAD
rs866415828 CA290925118	838	G>S		No	ClinGen Ensembl
CA8600003 rs752451300	846	V>A		No	ClinGen ExAC gnomAD
rs1567828052 CA399779982	846	V>L		No	ClinGen Ensembl
CA8600001 rs754416860	848	W>R		No	ClinGen ExAC gnomAD
CA8599999 rs567528042	850	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399779916 rs567528042	850	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1287164909 CA399779883	852	S>F		No	ClinGen TOPMed
rs1420833243 CA399779869	853	T>M		No	ClinGen TOPMed gnomAD
rs2285644 CA8599998	854	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399779824 rs1419411396	856	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399779776 rs530808737	860	P>A		No	ClinGen TOPMed
rs530808737 CA290925072	860	P>S		No	ClinGen TOPMed
rs530808737 CA290925081	860	P>T		No	ClinGen TOPMed
rs1468176880 COSM349337 CA399779759	861	F>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8599995 rs768776105	863	L>P		No	ClinGen ExAC gnomAD
rs1231677586 CA399779610	869	L>Q		No	ClinGen gnomAD
rs746426065 CA290925045	870	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746426065 CA8599992	870	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs879191534 CA290925040	871	R>C		No	ClinGen Ensembl
rs747337202 CA399779582	872	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1011118078 CA290925029	873	L>V		No	ClinGen Ensembl
TCGA novel	874	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	875	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754644528 CA8599987	875	P>Q		No	ClinGen ExAC gnomAD
CA399779520 rs1567827843	876	L>V		No	ClinGen Ensembl
CA8599983 rs750445146	879	R>W		No	ClinGen ExAC gnomAD
CA399779432 rs1426774802	880	N>K		No	ClinGen TOPMed gnomAD
CA399779423 rs767364927	881	V>L		No	ClinGen ExAC TOPMed gnomAD
rs767364927 CA8599982	881	V>M		No	ClinGen ExAC TOPMed gnomAD
CA399779412 rs1436104092	882	E>K		No	ClinGen TOPMed
rs761614805 CA8599981 CA290925014	884	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs150340150 CA8599957	886	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456357591 CA399779181	887	D>E		No	ClinGen TOPMed
CA290924561 rs267604899	887	D>N		No	ClinGen Ensembl
rs542233229 CA8599956	891	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	893	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290924535 rs749873875	896	D>N		No	ClinGen Ensembl
CA399779055 rs1177966248	896	D>V		No	ClinGen TOPMed
CA399779000 rs1458681694	900	G>A		No	ClinGen gnomAD
rs189300762 CA8599951	901	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs189300762 COSM979920 CA8599952	901	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs776130740 CA8599949	905	D>H		No	ClinGen ExAC TOPMed gnomAD
CA290924528 rs776130740	905	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV001066611 COSM1710362 rs199694087 CA399778920	906	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA399778802 rs1394359103	911	V>M		No	ClinGen TOPMed

6 associated diseases with P02730

[MIM: 166900]: Ovalocytosis, Southeast Asian (SAO)

A hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic. {ECO:0000269|PubMed:1538405, ECO:0000269|PubMed:1722314}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 612653]: Spherocytosis 4 (SPH4)

Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. {ECO:0000269|PubMed:10580570, ECO:0000269|PubMed:10745622, ECO:0000269|PubMed:10942416, ECO:0000269|PubMed:11380459, ECO:0000269|PubMed:1378323, ECO:0000269|PubMed:15813913, ECO:0000269|PubMed:16227998, ECO:0000269|PubMed:7530501, ECO:0000269|PubMed:8547122, ECO:0000269|PubMed:8640229, ECO:0000269|PubMed:8943874, ECO:0000269|PubMed:9012689, ECO:0000269|PubMed:9207478, ECO:0000269|PubMed:9233560, ECO:0000269|PubMed:9973643}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 179800]: Renal tubular acidosis, distal, 1 (DRTA1)

An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269|PubMed:10926824, ECO:0000269|PubMed:14734552, ECO:0000269|PubMed:20151848, ECO:0000269|PubMed:9312167, ECO:0000269|PubMed:9600966}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 611590]: Renal tubular acidosis, distal, 4, with hemolytic anemia (DRTA4)

An autosomal recessive disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. {ECO:0000269|PubMed:10926824, ECO:0000269|PubMed:15211439, ECO:0000269|PubMed:20151848, ECO:0000269|PubMed:9854053}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 611590]: Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC)

A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269|PubMed:15211439}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 185020]: Cryohydrocytosis (CHC)

An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes. {ECO:0000269|PubMed:16227998}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Without disease ID

A hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic. {ECO:0000269|PubMed:1538405, ECO:0000269|PubMed:1722314}. Note=The disease is caused by variants affecting the gene represented in this entry.
Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. {ECO:0000269|PubMed:10580570, ECO:0000269|PubMed:10745622, ECO:0000269|PubMed:10942416, ECO:0000269|PubMed:11380459, ECO:0000269|PubMed:1378323, ECO:0000269|PubMed:15813913, ECO:0000269|PubMed:16227998, ECO:0000269|PubMed:7530501, ECO:0000269|PubMed:8547122, ECO:0000269|PubMed:8640229, ECO:0000269|PubMed:8943874, ECO:0000269|PubMed:9012689, ECO:0000269|PubMed:9207478, ECO:0000269|PubMed:9233560, ECO:0000269|PubMed:9973643}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269|PubMed:10926824, ECO:0000269|PubMed:14734552, ECO:0000269|PubMed:20151848, ECO:0000269|PubMed:9312167, ECO:0000269|PubMed:9600966}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal recessive disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. {ECO:0000269|PubMed:10926824, ECO:0000269|PubMed:15211439, ECO:0000269|PubMed:20151848, ECO:0000269|PubMed:9854053}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269|PubMed:15211439}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes. {ECO:0000269|PubMed:16227998}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

5 regional properties for P02730

Type	Name	Position	InterPro Accession
domain	Bicarbonate transporter-like, transmembrane domain	378 - 554	IPR011531-1
domain	Bicarbonate transporter-like, transmembrane domain	566 - 839	IPR011531-2
domain	Band 3 cytoplasmic domain	87 - 329	IPR013769
conserved_site	Anion exchange, conserved site	379 - 390	IPR018241-1
conserved_site	Anion exchange, conserved site	526 - 540	IPR018241-2

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein	Detected in the erythrocyte cell membrane and on the basolateral membrane of alpha-intercalated cells in the collecting duct in the kidney
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
blood microparticle	A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids.
cortical cytoskeleton	The portion of the cytoskeleton that lies just beneath the plasma membrane.
cytoplasmic side of plasma membrane	The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
integral component of plasma membrane	The component of the plasma 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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

9 GO annotations of molecular function

Name	Definition
anion transmembrane transporter activity	Enables the transfer of a negatively charged ion from one side of a membrane to the other.
ankyrin binding	Binding to ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins.
bicarbonate transmembrane transporter activity	Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-.
chloride transmembrane transporter activity	Enables the transfer of chloride ions from one side of a membrane to the other.
hemoglobin binding	Binding to hemoglobin, an oxygen carrying, conjugated protein containing four heme groups and globin.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein-membrane adaptor activity	The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle.
solute:inorganic anion antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion(out) + solute(in) = inorganic anion (in) + solute(out).
transmembrane transporter activity	Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

16 GO annotations of biological process

Name	Definition
anion transport	The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
bicarbonate transport	The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
blood coagulation	The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers.
cellular ion homeostasis	Any process involved in the maintenance of an internal steady state of ions at the level of a cell.
chloride transmembrane transport	The process in which chloride is transported across a membrane.
chloride transport	The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
erythrocyte development	The process whose specific outcome is the progression of an erythrocyte over time, from its formation to the mature structure.
ion homeostasis	Any process involved in the maintenance of an internal steady state of ions within an organism or cell.
negative regulation of glycolytic process through fructose-6-phosphate	Any process that stops, prevents or reduces the frequency, rate or extent of glycolytic process through fructose-6-phosphate.
negative regulation of oxidoreductase activity	Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.
negative regulation of urine volume	Any process that decreases the amount of urine excreted from the body over a unit of time.
pH elevation	Any process that increases the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion.
plasma membrane phospholipid scrambling	The movement of a population of phospholipid molecules from one leaflet of the plasma membrane bilayer to the opposite leaflet, resulting in loss of lipid asymmetry and surface exposure of phosphatidylserine (PS) and phosphatidylethanolamine (PE).
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulation of intracellular pH	Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.

24 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9GL77	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Bos taurus (Bovine)	PR
Q32LP4	SLC4A10	Sodium-driven chloride bicarbonate exchanger	Bos taurus (Bovine)	PR
Q8NBS3	SLC4A11	Solute carrier family 4 member 11	Homo sapiens (Human)	PR
Q9Y6R1	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Homo sapiens (Human)	PR
Q9Y6M7	SLC4A7	Sodium bicarbonate cotransporter 3	Homo sapiens (Human)	PR
Q6U841	SLC4A10	Sodium-driven chloride bicarbonate exchanger	Homo sapiens (Human)	PR
Q2Y0W8	SLC4A8	Electroneutral sodium bicarbonate exchanger 1	Homo sapiens (Human)	PR
P04920	SLC4A2	Anion exchange protein 2	Homo sapiens (Human)	PR
Q8JZR6	Slc4a8	Electroneutral sodium bicarbonate exchanger 1	Mus musculus (Mouse)	PR
Q8BTY2	Slc4a7	Sodium bicarbonate cotransporter 3	Mus musculus (Mouse)	PR
P13808	Slc4a2	Anion exchange protein 2	Mus musculus (Mouse)	PR
A2AJN7	Slc4a11	Solute carrier family 4 member 11	Mus musculus (Mouse)	PR
Q5DTL9	Slc4a10	Sodium-driven chloride bicarbonate exchanger	Mus musculus (Mouse)	PR
P16283	Slc4a3	Anion exchange protein 3	Mus musculus (Mouse)	PR
O88343	Slc4a4	Electrogenic sodium bicarbonate cotransporter 1	Mus musculus (Mouse)	PR
P04919	Slc4a1	Band 3 anion transport protein	Mus musculus (Mouse)	PR
Q4U116	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Sus scrofa (Pig)	PR
Q9JI66	Slc4a4	Electrogenic sodium bicarbonate cotransporter 1	Rattus norvegicus (Rat)	PR
Q9R1N3	Slc4a7	Sodium bicarbonate cotransporter 3	Rattus norvegicus (Rat)	PR
Q80ZA5	Slc4a10	Sodium-driven chloride bicarbonate exchanger	Rattus norvegicus (Rat)	PR
Q3E954	BOR6	Probable boron transporter 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M1P7	BOR2	Probable boron transporter 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SUU1	BOR7	Probable boron transporter 7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VYR7	BOR1	Boron transporter 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEELQDDYED	MMEENLEQEE	YEDPDIPESQ	MEEPAAHDTE	ATATDYHTTS	HPGTHKVYVE
70	80	90	100	110	120
LQELVMDEKN	QELRWMEAAR	WVQLEENLGE	NGAWGRPHLS	HLTFWSLLEL	RRVFTKGTVL
130	140	150	160	170	180
LDLQETSLAG	VANQLLDRFI	FEDQIRPQDR	EELLRALLLK	HSHAGELEAL	GGVKPAVLTR
190	200	210	220	230	240
SGDPSQPLLP	QHSSLETQLF	CEQGDGGTEG	HSPSGILEKI	PPDSEATLVL	VGRADFLEQP
250	260	270	280	290	300
VLGFVRLQEA	AELEAVELPV	PIRFLFVLLG	PEAPHIDYTQ	LGRAAATLMS	ERVFRIDAYM
310	320	330	340	350	360
AQSRGELLHS	LEGFLDCSLV	LPPTDAPSEQ	ALLSLVPVQR	ELLRRRYQSS	PAKPDSSFYK
370	380	390	400	410	420
GLDLNGGPDD	PLQQTGQLFG	GLVRDIRRRY	PYYLSDITDA	FSPQVLAAVI	FIYFAALSPA
430	440	450	460	470	480
ITFGGLLGEK	TRNQMGVSEL	LISTAVQGIL	FALLGAQPLL	VVGFSGPLLV	FEEAFFSFCE
490	500	510	520	530	540
TNGLEYIVGR	VWIGFWLILL	VVLVVAFEGS	FLVRFISRYT	QEIFSFLISL	IFIYETFSKL
550	560	570	580	590	600
IKIFQDHPLQ	KTYNYNVLMV	PKPQGPLPNT	ALLSLVLMAG	TFFFAMMLRK	FKNSSYFPGK
610	620	630	640	650	660
LRRVIGDFGV	PISILIMVLV	DFFIQDTYTQ	KLSVPDGFKV	SNSSARGWVI	HPLGLRSEFP
670	680	690	700	710	720
IWMMFASALP	ALLVFILIFL	ESQITTLIVS	KPERKMVKGS	GFHLDLLLVV	GMGGVAALFG
730	740	750	760	770	780
MPWLSATTVR	SVTHANALTV	MGKASTPGAA	AQIQEVKEQR	ISGLLVAVLV	GLSILMEPIL
790	800	810	820	830	840
SRIPLAVLFG	IFLYMGVTSL	SGIQLFDRIL	LLFKPPKYHP	DVPYVKRVKT	WRMHLFTGIQ
850	860	870	880	890	900
IICLAVLWVV	KSTPASLALP	FVLILTVPLR	RVLLPLIFRN	VELQCLDADD	AKATFDEEEG
910
RDEYDEVAMP	V