AiPD: Autoinhibited Protein Database

P40337

Gene name	VHL
Protein name	von Hippel-Lindau disease tumor suppressor
Names	Protein G7, pVHL
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7428
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-97 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-97 (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

99 structures for P40337

Entry ID	Method	Resolution	Chain	Position	Source
1LM8	X-ray	185 A	V	54-213	PDB
1LQB	X-ray	200 A	C	54-213	PDB
1VCB	X-ray	270 A	C/F/I/L	54-213	PDB
3ZRC	X-ray	290 A	C/F/I/L	54-213	PDB
3ZRF	X-ray	280 A	C/F/I/L	54-213	PDB
3ZTC	X-ray	265 A	C/F/I/L	54-213	PDB
3ZTD	X-ray	279 A	C/F/I/L	54-213	PDB
3ZUN	X-ray	250 A	C/F/I/L	54-213	PDB
4AJY	X-ray	173 A	V	54-213	PDB
4AWJ	X-ray	250 A	C/F/I/L	54-213	PDB
4B95	X-ray	280 A	C/F/I/L	54-213	PDB
4B9K	X-ray	200 A	C/F/I/L	54-213	PDB
4BKS	X-ray	220 A	C/F/I/L	54-213	PDB
4BKT	X-ray	235 A	C/F/I/L	54-213	PDB
4W9C	X-ray	220 A	C/F/I/L	54-213	PDB
4W9D	X-ray	220 A	C/F/I/L	54-213	PDB
4W9E	X-ray	260 A	C/F/I/L	54-213	PDB
4W9F	X-ray	210 A	C/F/I/L	54-213	PDB
4W9G	X-ray	270 A	C/F/I/L	54-213	PDB
4W9H	X-ray	210 A	C/F/I/L	54-213	PDB
4W9I	X-ray	240 A	C/F/I/L	54-213	PDB
4W9J	X-ray	220 A	C/F/I/L	54-213	PDB
4W9K	X-ray	210 A	C/F/I/L	54-213	PDB
4W9L	X-ray	220 A	C/F/I/L	54-213	PDB
4WQO	X-ray	320 A	A	1-213	PDB
5LLI	X-ray	240 A	C/F/I/L	54-213	PDB
5N4W	X-ray	390 A	V	54-213	PDB
5NVV	X-ray	210 A	C/F/I/L	54-213	PDB
5NVW	X-ray	220 A	C/F/I/L	54-213	PDB
5NVX	X-ray	220 A	C/F/I/L	54-213	PDB
5NVY	X-ray	290 A	C/F/I/L	54-213	PDB
5NVZ	X-ray	270 A	C/F/I/L	54-213	PDB
5NW0	X-ray	230 A	C/F/I/L	54-213	PDB
5NW1	X-ray	210 A	C/F/I/L	54-213	PDB
5NW2	X-ray	220 A	C/F/I/L	54-213	PDB
5T35	X-ray	270 A	D/H	54-213	PDB
6BVB	X-ray	200 A	V	54-213	PDB
6FMI	X-ray	280 A	C/F	54-204	PDB
6FMJ	X-ray	245 A	C/F/I/L	54-204	PDB
6FMK	X-ray	275 A	C/F/I/L	54-204	PDB
6GFX	X-ray	183 A	C	54-213	PDB
6GFY	X-ray	270 A	C/F/I/L	54-213	PDB
6GFZ	X-ray	230 A	C/F/I/L	54-213	PDB
6GMN	X-ray	194 A	C/F/I/L	54-213	PDB
6GMQ	X-ray	275 A	C/F/I/L	54-213	PDB
6GMR	X-ray	175 A	V	54-213	PDB
6GMX	X-ray	253 A	C/F/I/L	54-213	PDB
6HAX	X-ray	235 A	B/F	54-213	PDB
6HAY	X-ray	224 A	B/F	54-213	PDB
6HR2	X-ray	176 A	B/F	61-209	PDB
6I7Q	X-ray	180 A	V	54-213	PDB
6I7R	X-ray	195 A	V	54-213	PDB
6R6H	EM	840 A	V	60-207	PDB
6R7F	EM	820 A	V	54-213	PDB
6SIS	X-ray	350 A	D/H	54-213	PDB
6ZHC	X-ray	192 A	AAA	59-213	PDB
7CJB	X-ray	280 A	A/E/I/M	55-213	PDB
7JTO	X-ray	170 A	L	54-213	PDB
7JTP	X-ray	212 A	L	54-213	PDB
7KHH	X-ray	228 A	C	55-213	PDB
7PI4	X-ray	224 A	AAA	59-213	PDB
7Q2J	X-ray	250 A	C	54-213	PDB
7S4E	X-ray	225 A	B/F	54-213	PDB
7Z6L	X-ray	224 A	B	54-213	PDB
7Z76	X-ray	132 A	C	54-213	PDB
7Z77	X-ray	197 A	C	54-213	PDB
7ZNT	X-ray	300 A	C/F	54-213	PDB
8BB2	X-ray	205 A	L	54-213	PDB
8BB3	X-ray	180 A	L	54-213	PDB
8BB4	X-ray	280 A	P	54-213	PDB
8BB5	X-ray	220 A	C	54-213	PDB
8BDI	X-ray	211 A	C/F/I/L	54-213	PDB
8BDJ	X-ray	202 A	C/F/I/L	54-213	PDB
8BDL	X-ray	229 A	C/F/I/L	54-213	PDB
8BDM	X-ray	202 A	C/F/I/L	54-213	PDB
8BDN	X-ray	276 A	C/F/I/L	54-213	PDB
8BDO	X-ray	280 A	C/F	54-213	PDB
8BDS	X-ray	172 A	C	54-213	PDB
8BDT	X-ray	270 A	D/H	54-213	PDB
8BDX	X-ray	293 A	D/H	54-213	PDB
8BEB	X-ray	318 A	C	54-213	PDB
8C13	X-ray	230 A	L	54-213	PDB
8CQE	X-ray	285 A	C/F/I/L	54-213	PDB
8CQK	X-ray	262 A	C/F/I/L	54-213	PDB
8CQL	X-ray	238 A	C/F/I/L	54-213	PDB
8EI3	X-ray	349 A	C/F	54-213	PDB
8EWV	X-ray	340 A	C/G/K/O/S/W	54-213	PDB
8G1P	X-ray	270 A	C/F	56-213	PDB
8G1Q	X-ray	373 A	C	56-213	PDB
8P0F	X-ray	198 A	A/D	54-213	PDB
8PC2	X-ray	280 A	A/B	54-213	PDB
8QJR	X-ray	317 A	C/F	54-213	PDB
8QJS	X-ray	319 A	C/F/I/L	54-213	PDB
8QU8	EM	350 A	A	2-213	PDB
8QVU	X-ray	224 A	B/F	1-213	PDB
8QW6	X-ray	220 A	B/F	54-213	PDB
8QW7	X-ray	236 A	B/F	54-213	PDB
8R5H	EM	344 A	H	54-213	PDB
AF-P40337-F1	Predicted				AlphaFoldDB

754 variants for P40337

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs886041253 RCV001820802 RCV000270054 RCV002347985	1	M>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000707210 RCV000236708 RCV000409700 RCV000228663 RCV000122260 RCV000492595 RCV002307459 RCV000411808 RCV000657025 RCV000467198 RCV002483231 rs578091032 RCV002487052 RCV002369974 RCV000562501	1	M>I	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1060503557 RCV000458939 RCV000663055 RCV000579235 RCV002418424	1	M>L	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1060503557 RCV000662755 RCV001230391 RCV002422448 RCV001784228	1	M>V	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA351747015 RCV002551875 rs1034974221 RCV001023393	2	P>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000168429 RCV000781920 CA020518 RCV000161089 RCV000294881 RCV000492422 rs111246617	2	P>L	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16611054 RCV002256271 RCV000460146 rs111246617	2	P>R	Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000997984 rs1034974221 RCV000696229 CA70042126 RCV002334321	2	P>S	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001027041 rs1575920798	3	R>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001338748 rs878854130 RCV002418995	3	R>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA351747019 RCV003223669 RCV002257940 RCV000698072 rs1178481595	3	R>P	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs878854130 RCV000226904 CA10582110 RCV002418000	3	R>W	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001018627 rs1559425474	4	R>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA915941833 rs1575920840 RCV001860608 RCV001009648	4	R>L	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000375604 RCV001350502 CA10616745 RCV003168519 rs886057703	4	R>M	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10614386 rs886057702 RCV000316395	4	R>W	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000161097 RCV002485005 rs730882038 RCV001812139	5	A>missing	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA351747027 rs1559425498 RCV000685222	5	A>P	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs755333116 RCV000409910 RCV000195431 RCV001582695 RCV000492641 CA039495	5	A>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001071455 rs1696114029	6	E>A	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
CA16611153 RCV000459599 rs1004620245 RCV002411515	6	E>D	Chuvash polycythemia Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
RCV001046537 rs1575920892	7	N>I	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001053669 RCV000574549 CA16611156 RCV000462197 RCV001356021 rs1060503561	7	N>K	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP ClinGen TOPMed gnomAD
RCV001298878 rs1575920892 RCV002418901	7	N>S	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1575920892 CA351747046 RCV000812261 COSM18079	7	N>T	Chuvash polycythemia soft_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000458561 CA16611056 COSM18368 rs1060503551	8	W>*	kidney Chuvash polycythemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001338153 rs1696114336	8	W>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1060503551 RCV001205122	8	W>L	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000559388 CA351747057 rs1352171735	8	W>R	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA16611161 rs1060503560 RCV002436462 RCV000471735	9	D>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001050407 RCV000456617 CA16611250 rs1017141110 COSM4136449 RCV002436463	9	D>E	ovary Hereditary cancer-predisposing syndrome Chuvash polycythemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
rs587780730 CA351747072 RCV000807206	9	D>H	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA020190 RCV000123104 RCV001657771 RCV002426672 rs587780730 RCV000524493	9	D>N	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA351747089 rs1057519261 RCV000662559 RCV001372824	10	E>*	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs963501454 RCV000466641 CA70042189 RCV001018646 CA16611059 RCV000821203 RCV000574155	10	E>D	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001302369 rs786204065	10	E>G	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV002488864 RCV000415643 RCV001584111 CA16043991 RCV001016912 RCV000476548 rs1057519261	10	E>K	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002438799 RCV001345999 rs1057519261	10	E>Q	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs786204065 RCV000167948 CA020251	10	E>V	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000764457 RCV001019152 rs1236604706 CA351747101 RCV000554589	11	A>P	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000538470 RCV000483032 CA16617780 RCV002350059 RCV002481508 rs973493604	12	E>D	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1696115662 RCV001206074 RCV001586049	12	E>L	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001020464 RCV000485486 CA16617779 RCV000808373 rs1064794788	12	E>Q	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1553619289 RCV001210678 RCV002356899	13	V>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1553619289 RCV002358759 RCV000631277 CA351747163	13	V>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA70042199 RCV000532105 rs919338576	13	V>I	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA351747177 RCV000798642 rs1575921044 RCV002332613	14	G>D	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1060503559 CA16611166 RCV000467814 RCV002475889 RCV003168862	14	G>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001569177 RCV001316987 rs1060503559	14	G>S	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000457623 RCV002329080 CA16611060 rs1060503568	15	A>T	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351747213 RCV000559942 RCV001022924 rs1060503556	16	E>*	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs864622379 RCV000204236 RCV000662539 RCV001023073 CA348482	16	E>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000631257 rs1057522140 CA351747226	16	E>D	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA16611058 RCV000460356 rs1060503556 RCV002329079	16	E>Q	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001023076 CA351747220 rs864622379	16	E>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000657735 CA70042221 rs1028898216 RCV001061392 RCV001023391	17	E>*	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001070434 rs1696117244	18	A>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000563088 CA351747273 rs1332272921	18	A>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002350176 rs1553619302 CA351747282 RCV000527264	18	A>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000631282 rs1553619308	20	V>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs929332564 RCV002355024 CA70042225 RCV001047363	20	V>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001025102 rs1060503548 CA16611259 RCV000476242	21	E>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351747354 rs1060503548 RCV000818167	21	E>V	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1696118115 RCV001344937	22	E>K	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1553619313 RCV002360687 RCV000663119 CA351747398 RCV002530602	23	Y>*	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001026041 RCV002493219 CA351747408 rs1438223626 RCV000699569	24	G>C	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001026150 rs878854129 CA10582111 RCV000412262 RCV000231328	24	G>D	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000803089 RCV003153844 rs1438223626 CA351747411	24	G>S	Chuvash polycythemia Ovarian cancer [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000465780 RCV002383832 rs745338799 CA042053	25	P>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_034562 RCV000126300 RCV001082579 COSM36211 RCV000224298 CA020538 rs35460768 RCV001770076 RCV002467563 RCV000079211 RCV000119213	25	P>L	kidney Nonpapillary renal cell carcinoma Chuvash polycythemia Maffucci syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome pheochromocytoma; likely benign variant [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351747440 COSM14369 RCV001026731 rs1575921209	26	E>K	kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV002268205 CA351747487 RCV000818951 RCV000561967 rs1553619319	28	D>N	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000411210 RCV000691373 rs1057517592	28	D>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA351747542 RCV000543672 rs1553619321	29	G>A	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351747532 rs1277221408 RCV000803484	29	G>R	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10584228 RCV001018081 RCV000533627 RCV000235782 rs879254115	29	G>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1064793290 RCV000822170 RCV002372350 CA351747570	30	G>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001712442 RCV001018619 rs1064793290 RCV001294070 CA16617781 RCV000696976	30	G>E	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002486456 RCV000685906 RCV002298738 RCV001351817 CA351747563 CA70042258 RCV002377495 rs913104799 RCV001018482	30	G>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs913104799 RCV001216618 RCV002375187	30	G>W	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000576425 RCV000532705 CA351747598 rs1214275235	31	E>*	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA351747611 rs1438911242 RCV001243676	31	E>D	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000166262 CA020549 RCV002485030 rs786203104 RCV001558212 RCV000230870	32	E>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
COSM1684700 RCV001019872 RCV000792429 rs1476994915 CA351747649	33	S>*	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV001325651 rs1476994915 RCV002255181 CA351747655	33	S>L	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001296098 rs868726923	33	S>T	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001062374 RCV001575478 RCV002379585 rs1236159514	35	A>missing	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000663333 rs587780536 RCV000119148 RCV001017126 RCV001588931 CA020039	35	A>D	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000631275 CA70042288 rs587780536	35	A>V	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1553619337 RCV000527842	35	A>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1696119887 RCV001318425	35	A>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000997985 rs1405360663 RCV002391063 CA351747691 RCV001858870	35	A>T	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1696121268 RCV001234818	36	E>*	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1696121268 RCV001316060	36	E>K	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1338996432 RCV001092964 RCV002554860	37	E>*	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV002442405 RCV000679017 CA351747751 rs1338996432 COSM17997	37	E>K	kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs1575921303 RCV000813757 RCV002440776	38	S>missing	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001220410 rs1575921303	38	S>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
CA351747838 COSM17688 rs867958699 RCV002453779 RCV000803648	38	S>F	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_005670	38	S>P	VHLD; type II [UniProt]	Yes	UniProt
COSM14345 CA351747884 RCV000531510 rs368473853	39	G>D	kidney Chuvash polycythemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD
RCV001550254 RCV000463141 RCV002356707 rs768650092 CA039367	39	G>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001010023 CA351747863 rs768650092 RCV001309438 COSM14370	39	G>S	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV001303659 RCV002341603 rs776399733	40	P>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM3364915 RCV003153403 RCV001588971 RCV000565432 RCV000199012 rs200343185 CA020046 RCV000122259 RCV000662921	40	P>L	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Ovarian cancer [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200343185 RCV001858871 RCV000997986 CA351747895	40	P>R	Von hippel-lindau syndrome (vhl) Chuvash polycythemia [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001010405 CA351747902 rs1475252559	41	E>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001305794 rs1696122750	41	E>V	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
CA16617782 RCV000485480 RCV001851244 RCV002431413 rs1064796244 RCV002489170	42	E>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001347390 rs1064796244	42	E>G	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV002404821 rs1696122809 RCV001347947	42	E>K	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001343882 rs1696122809	42	E>Q	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1696123001 RCV001338248	43	S>P	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001300923 rs1056226386 COSM18369 RCV002258187 CA70042374	44	G>D	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
rs1575921446 RCV002484277 RCV001233308	44	G>R	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1575921446 RCV000800391 CA351748044	44	G>S	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000823930 rs1575921452 CA351748071 RCV002381882	45	P>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs199583685 RCV000803524 RCV002381760 CA70042375 COSM3364887 RCV001772076	45	P>L	kidney Nonpapillary renal cell carcinoma Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000236098 RCV001081208 RCV001011022 rs199583685 CA039433	45	P>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1209079089 RCV001225655	46	E>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001011182 rs1575921470 CA351748088	46	E>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1457039250 RCV001239129	47	E>*	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV002390655 rs1457039250 RCV000815458 CA351748134	47	E>K	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs199959170 CA039460 RCV000631272	48	L>R	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001346919 rs1696124265	49	G>R	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001318363 rs1252338161	49	G>V	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs766576246 RCV001204260	50	A>G	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000481405 COSM1169459 rs766576246 RCV001071961 RCV002395163 CA039477	50	A>V	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000818739 rs1480825246 CA351748278 RCV002390679	51	E>K	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1480825246 RCV001042972	51	E>Q	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001012120 RCV002505196 RCV000685691 CA020061 rs373068386 RCV000161090 RCV000656989 RCV000576421	52	E>*	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001704076 RCV000148923 VAR_005671 RCV000227809 RCV000575111 RCV002465537 RCV001843484 COSM1417286 CA020056 RCV002467589 rs373068386	52	E>K	Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Enchondromatosis Hepatoblastoma VHLD; type I [Ensembl, ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1696125033 RCV001046725	54	M>L	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1575921544 RCV001012459 CA351748468	54	M>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000208829 RCV000492789 rs869025615 RCV001036535	55	E>missing	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA351748514 rs1328776664 RCV000696740	55	E>G	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000409162 CA039566 RCV001012691 RCV002481266 rs752980085 RCV000530730 RCV000782251	56	A>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000168239 CA020064 rs752980085 RCV000219530 RCV002485045	56	A>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel RCV000631261 CA351748619 rs764755691	57	G>A	Chuvash polycythemia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD NCI-TCGA
RCV000478059 RCV000631256 CA16617783 RCV001012690 rs1064795194	57	G>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351748610 RCV000798890 RCV001012789 rs1064795194	57	G>W	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553619400 RCV000567236 CA351748642 RCV001308464	58	R>Q	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA039640 RCV003151759 COSM1731984 RCV000663291 RCV000230639 RCV001012878 RCV002500764 rs757781272	58	R>W	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1696126408 RCV001342899	59	P>Q	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs876659041 RCV000631267 RCV000213269 CA10578179	59	P>S	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs886041345 RCV000267121 RCV000767231 RCV001859534	60	R>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000803035 rs1064796408 RCV000479186	60	R>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1035077469 RCV000460540 RCV000573017 CA16611061	60	R>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001235452 rs1696126647	60	R>P	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1035077469 RCV001244606	60	R>W	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs113612866 RCV002487051 RCV000562742 CA10582113 TCGA novel RCV000233504	61	P>A	Variant assessed as Somatic; impact. Chuvash polycythemia Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	NCI-TCGA ClinGen ClinVar dbSNP gnomAD
CA039669 rs746582207 RCV000573623 RCV000560166	61	P>L	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs746582207 RCV000705281 CA351748722	61	P>R	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000663198 rs113612866 CA16611261 RCV001013302 RCV000471372	61	P>S	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000161096 rs730882037	62	V>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001218645 rs1696127941	62	V>E	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV002411940 RCV001295524 rs747861291	62	V>L	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA039721 RCV001013381 RCV001202371 rs747861291	62	V>M	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA020079 RCV000704785 rs104893827 VAR_034987 RCV000002315 RCV000585971	63	L>P	Pheochromocytoma Chuvash polycythemia pheochromocytoma [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV001037923 RCV000767232 CA351748753 rs104893827	63	L>Q	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1553619402 RCV000588397	64	R>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs869025647 RCV000208833	64	R>*	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001588972 RCV000123103 rs104893826 CA020083	64	R>H	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000679019 RCV000208872 rs104893826 VAR_034988 RCV000002314 CA020089 RCV000132356 RCV000475973	64	R>P	Pheochromocytoma Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome pheochromocytoma [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1487408934 RCV001322991	64	R>S	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs730882031 RCV000161076 RCV000586821	65	S>missing	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM18015 CA357085 RCV000208831 rs5030826 RCV002509303 RCV001213116	65	S>*	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000208812 COSM144970 rs869025616 VAR_034989 CA357048	65	S>A	adrenal_gland Von Hippel-Lindau syndrome pheochromocytoma [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_005672 RCV001389259 RCV000199197 COSM14400 RCV000626711 rs5030826 CA020104	65	S>L	kidney Von hippel-lindau syndrome (vhl) Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia Cerebellar hemangioblastoma Von Hippel-Lindau syndrome VHLD; type I [Cosmic, Ensembl, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV000660351 rs869025616 CA351748798 COSM18074	65	S>P	kidney Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA020099 RCV001219547 rs5030826 VAR_005673 RCV000497340 RCV002415465 COSM34005 RCV000036539	65	S>W	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV001013892 rs1575921766 CA351748808	66	V>M	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_005674	66	V>del	VHLD; type I [UniProt]	Yes	UniProt
RCV000485402 rs1064794129 CA16617785 RCV001851172	67	N>H	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs769658318 RCV000767233 CA351748855 CA039757	67	N>K	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
RCV000208815 rs869025617 CA357051 RCV001389820 COSM14372	68	S>*	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs869025617 CA351748894 RCV001046095 RCV002422648 COSM17870 RCV000767234	68	S>L	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_005675	68	S>W	pheochromocytoma and VHLD; type II [UniProt]	Yes	UniProt
RCV000764458 rs1428175816 RCV002422523 CA351748904 RCV000695109	69	R>G	Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1553619415 RCV000536755	70	E>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM17711 RCV000767235 CA16602179 RCV000679020 RCV000492695 rs5030802	70	E>*	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1553619417 RCV000568029 CA351748998	70	E>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000165891 rs786202857 RCV000227354 RCV001545934 CA020113	70	E>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA020108 VAR_005676 RCV000036540 RCV000492137 RCV001379599 rs5030802	70	E>K	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome VHLD; type I [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs5030802 RCV001051596	70	E>Q	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001319640 rs1696129801	71	P>S	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs962558566 RCV001071152 RCV002429744 CA70042512	72	S>F	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM97136 rs869025618 RCV000208787 CA357006 RCV000492124 RCV001382227	72	S>P	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000161098 rs730882039	73	Q>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001218191 rs869025619 RCV000208804 COSM17872 RCV000679022 CA357036	73	Q>*	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000686913 CA70042515 rs869025619 RCV002424590	73	Q>E	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351749148 RCV000806476 rs1575921862	73	Q>H	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001065319 rs1295818809	73	Q>L	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001059124 CA351749128 RCV000708763 RCV002469274 rs1295818809	73	Q>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000208849 rs869025620	74	V>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000484327 CA16617786 RCV002475938 COSM17697 RCV000698497 rs5030803	74	V>A	kidney Chuvash polycythemia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001855961 CA351749169 RCV000767236 COSM17715 rs5030803	74	V>D	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_005677 CA70042528 rs5030803 COSM3364888	74	V>G	kidney soft_tissue VHLD; type I-II [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
CA16611074 rs1060503554 RCV000466296 RCV000571595	75	I>L	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000002298 VAR_034990 rs794729660	75	I>missing	VHLD Von Hippel-Lindau syndrome [UniProt, ClinVar]	Yes	ClinVar UniProt dbSNP
rs768104793 RCV002442677 CA351749213 RCV000803557	75	I>M	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000767237 CA16617787 RCV001201718 RCV000479941 rs1064794271	75	I>S	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001014879 RCV000693934 rs1060503554 CA351749194	75	I>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs794729660 VAR_034990	75	I>del	VHLD [UniProt]	Yes	UniProt dbSNP
RCV002446840 RCV000462489 rs1060503552	76	F>missing	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000469401 rs5030648 RCV000208790 RCV000679023 RCV002444839	76	F>missing	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000590057 rs730882033 RCV001209996 CA351749240 RCV002448821	76	F>C	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351749231 RCV000767239 rs730882033 COSM14321	76	F>Y	kidney Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1559425911 VAR_005679 RCV001015002 CA351749221	76	F>I	Hereditary cancer-predisposing syndrome VHLD; type I [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1575921940 VAR_005680 RCV001323711	76	F>L	Chuvash polycythemia VHLD; type I [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
CA020125 RCV000767238 VAR_005681 rs730882033 COSM34007	76	F>S	kidney Von Hippel-Lindau syndrome VHLD; type I [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_005678	76	F>del	VHLD; type I; common mutation [UniProt]	Yes	UniProt
rs1696131797 RCV001308893	77	C>S	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000767242 rs1559425925	78	N>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM18275 RCV002260666 RCV001869052 RCV000767241 CA351749284 rs869025621	78	N>D	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_005682 COSM18086 rs869025621 RCV000767240 CA351749283	78	N>H	kidney Von Hippel-Lindau syndrome VHLD; type I [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000208821 RCV000803184 COSM14320 CA357063 rs5030804	78	N>I	kidney Von hippel-lindau syndrome (vhl) thyroid Chuvash polycythemia Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000492165 VAR_005683 CA020131 RCV000254892 rs5030804 COSM17855 RCV000079207 RCV001034687	78	N>S	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia pancreas Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I; common mutation [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA357095 RCV000208838 RCV000679024 VAR_005684 COSM14319 RCV000805326 rs5030804	78	N>T	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome VHLD; type I [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000208818 RCV000568344 rs869025621 CA357056 COSM34008	78	N>Y	kidney Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000231302 RCV000235492 RCV002444611 rs200885420 RCV000412420 RCV000148920 CA020136	79	R>C	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM727511 CA16611065 rs200885420 RCV000475786 RCV002475891	79	R>G	lung Von hippel-lindau syndrome (vhl) Chuvash polycythemia [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_005685	79	R>P	VHLD [UniProt]	Yes	UniProt
RCV000767243 rs1559425951	80	S>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs786202787 RCV001388793 RCV002307423 CA020142 RCV000165774 COSM1738372	80	S>G	Von hippel-lindau syndrome (vhl) Chuvash polycythemia adrenal_gland Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001056150 rs1696132295	80	S>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000767244 VAR_005686 COSM3364919 rs5030805 CA16621914 RCV001220559	80	S>I	kidney Chuvash polycythemia Von Hippel-Lindau syndrome VHLD; type I [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
COSM30216 CA70046108 rs5030805 VAR_005688	80	S>N	kidney pheochromocytoma and VHLD; type I [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
VAR_005687 rs786202787 CA16621913 COSM14290 RCV000590356 COSM53187 COSM34029	80	S>R	kidney Von hippel-lindau syndrome (vhl) pancreas Von Hippel-Lindau syndrome VHLD; type I [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV001547784 CA020154 RCV001034657 COSM1757300 RCV000030582 RCV000129974 RCV002251933 rs193922608	81	P>L	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV003137484 RCV000213077 RCV001770030 rs104893829 RCV002467489 COSM17721 RCV000656990 VAR_005689 RCV000115744 RCV000002321 CA020148 RCV000418681 RCV001080004 RCV001843451	81	P>S	Nonpapillary renal cell carcinoma Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Enchondromatosis Neoplasm kidney thyroid Chuvash polycythemia breast Hepatoblastoma VHLD; type I [ClinVar, Ensembl, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA351750541 COSM18358 RCV001201863 RCV002447048 rs1214305423	82	R>C	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV001219698 CA351750549 RCV001015609 rs794726890	82	R>H	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351750555 rs794726890 RCV001553666 RCV002448934 RCV000631271 COSM144972	82	R>L	Von hippel-lindau syndrome (vhl) Chuvash polycythemia adrenal_gland Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000724457 RCV000173161 COSM14382 rs794726890 VAR_005690 CA020159	82	R>P	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_005691	82	R>del	VHLD [UniProt]	Yes	UniProt
rs751042065 CA040005 RCV001237774	83	V>L	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA351750594 RCV001772071 RCV001015832 RCV000803042 rs1264207864 RCV002487706	84	V>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000588802 COSM236660 CA020170 RCV000002324 RCV001851579 RCV001382229 rs5030827 RCV002433440 VAR_005692 CA10578180 RCV000216720	84	V>L	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia adrenal_gland Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome VHLD; type II and type 2C [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
RCV000492467 RCV000767245 RCV000631269 rs5030827 CA351750580	84	V>M	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs5030828 RCV001037697 RCV000425416 COSM17859 CA16602675	85	L>P	Neoplasm kidney Chuvash polycythemia Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV001043701 rs1422271977 RCV002429599	85	L>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs398123481 COSM36324 CA020174 RCV001227827 RCV000723702 RCV000079208 VAR_005693	86	P>A	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome VHLD; type I [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_008097	86	P>H	VHLD [UniProt]	Yes	UniProt
COSM18028 CA020186 RCV001382230 VAR_005694 rs730882034 RCV000208836 RCV000492524	86	P>L	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
COSM30234 RCV000208868 rs730882034 VAR_005695 CA357142 RCV002426981 RCV000631258 RCV001770159	86	P>R	kidney Nonpapillary renal cell carcinoma Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome VHLD; type I [Cosmic, ClinVar, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000155449 RCV000492763 RCV000413630 VAR_005696 RCV001059327 CA020180 COSM18350 rs398123481	86	P>S	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome VHLD [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000767246 RCV000204033 rs864622545 RCV000767247	87	V>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM18070 RCV001382231 RCV000161086 COSM249280 CA020197 rs119103277 RCV000208798 RCV000492395	88	W>*	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV003163557 RCV001205532 rs869025622	88	W>*	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA351750678 COSM17807 RCV000492552 CA357078 RCV000537014 RCV000208827 RCV000704506 COSM97142 rs869025622	88	W>C	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM17953 RCV000589476 CA351750667 RCV000587190 RCV000679026 rs1553619431 VAR_005697 CA351750671 COSM17881 RCV002431533 RCV000631292 RCV000558602	88	W>R	Variant assessed as Somatic; impact. kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome VHLD; type I [NCI-TCGA, Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000492430 rs1131690960	88	W>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM18415 CA020202 rs119103277 RCV000002306 VAR_005698	88	W>S	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. soft_tissue VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000807105 rs1575922124 CA351750683 RCV003166260	89	L>F	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_005699 CA16602514 rs5030807 COSM14305 RCV000417911	89	L>H	kidney Von hippel-lindau syndrome (vhl) Papillary renal cell carcinoma type 1 Variant assessed as Somatic; impact. pleura Renal cell carcinoma, papillary, 1 (rccp1) lung cancer [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000161087 RCV000817709 rs5030807 VAR_005700 COSM14346 CA020207 RCV000208869	89	L>P	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia pancreas Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. Renal cell carcinoma, papillary, 1 (rccp1) VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1696134947 RCV001220866	90	N>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs869025623 RCV000208842	90	N>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000208809 RCV002426982 COSM14390 rs143985153 CA357043	90	N>I	kidney Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000693265 CA020212 rs143985153 RCV002426542 RCV000034799	90	N>S	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000551615 CA351750709 rs143985153	90	N>T	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351750722 RCV001016401 COSM18061 rs1559426039	91	F>L	kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM18061 rs1060503563 VAR_005701 RCV000464337 CA16611270 RCV001016453	91	F>L	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome cerebellar hemangioblastoma [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
rs1559426039 CA16020703 RCV000767248	91	F>V	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351750775 RCV001209620 rs1442093467	92	D>E	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002485013 RCV000412307 RCV000163954 rs749091984 CA020224 RCV000525495 RCV000679028	92	D>V	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
COSM17726 RCV001016495 CA020217 rs587780731 RCV000123105	92	D>Y	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
VAR_005702	92	D>del	VHLD; type I [UniProt]	Yes	UniProt
RCV000767250 RCV000492462 rs1131690964	93	G>missing	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1559426059 RCV000696355	93	G>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs5030808 VAR_005703 CA357106 RCV000208845	93	G>C	Von Hippel-Lindau syndrome pheochromocytoma and VHLD; type II [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA351750781 RCV000586256 rs1553619440 VAR_005704 RCV001853983	93	G>D	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome VHLD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA357130 RCV002433917 rs5030808 RCV000208861 RCV001035237 COSM18080	93	G>R	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome soft_tissue [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
COSM14292 VAR_005705 CA020230 rs5030808 RCV000208813 RCV000698471 RCV000002325 RCV002433441	93	G>S	Pheochromocytoma Chuvash polycythemia adrenal_gland Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome pheochromocytoma and VHLD; type II [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
RCV000767249 rs1553619440 CA351750779 COSM3364920	93	G>V	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA891843322 RCV000707314 COSM3364920 rs1559426072 RCV001016587	93	G>V	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001222557 RCV000708631 CA70046202 rs5030829 RCV000767251 COSM30220	94	E>*	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs5030829 CA020237 RCV000123106 RCV000166872 COSM3734682	94	E>K	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000698452 rs964996401 CA70046204 RCV003106023	95	P>L	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000818489 CA351750807 rs1376530057	95	P>S	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM17658 CA351750811 rs1131690959 RCV000492143	96	Q>*	kidney Hereditary cancer-predisposing syndrome soft_tissue [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001327546 rs1553619446	96	Q>H	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1559426089 CA351750823 RCV002440591 RCV000767252 VAR_005706 COSM144717	96	Q>P	kidney Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome VHLD; type I [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA339035 rs863224688 RCV001345453 RCV000200000	97	P>S	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA351750843 rs863224688 RCV000536081	97	P>T	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1559426115 COSM14325 COSM17958 RCV000767254 CA16621910	98	Y>*	kidney Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000208788 COSM14325 COSM17958 rs869025624 CA357009	98	Y>*	kidney Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA279916 RCV001064921 RCV002433899 RCV000208847 rs864321643 RCV000203508	98	Y>S	Pheochromocytoma Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1575922296 RCV000812797	98	Y>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1559426095 RCV000767253	98	Y>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA020246 RCV000679029 RCV000492094 RCV000002309 VAR_005707 rs5030809 RCV000684783	98	Y>H	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome pheochromocytoma and VHLD; type II [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV001016937 rs1575922271	98	Y>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA357072 RCV000208825 RCV001218807 RCV001357107 COSM144973 rs864321643	98	Y>C	Chuvash polycythemia adrenal_gland Von Hippel-Lindau syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001340628 rs549807529 CA040169	99	P>A	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA351750938 RCV003162798 rs1553619452 RCV000631286	99	P>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001294550 RCV002437001 rs549807529	99	P>T	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs869025625 RCV000208817	100	T>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM17856 RCV000631270 CA040192 RCV000997987 RCV002255483 rs745901803 RCV002477380	100	T>A	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV002255525 CA351750989 RCV000797870 rs1346874866	100	T>M	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs869025626 RCV000208859	101	L>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_005708	101	L>G	VHLD; type I; requires 2 nucleotide substitutions [UniProt]	Yes	UniProt
CA351751000 COSM18255 rs1553619456 RCV001858152 RCV000574983	101	L>P	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_005709	101	L>R	VHLD; type I [UniProt]	Yes	UniProt
RCV000799472 CA351751047 rs1379270197	102	P>L	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA040238 rs532018719 RCV001063174	102	P>S	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1559426145 RCV000767255	103	P>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000204487 RCV001018501 rs864622267 RCV001370713 CA348715	103	P>A	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs869025627 RCV000208801	104	G>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs869025628 RCV000208819	104	G>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA16611067 RCV000467167 rs869025630 VAR_005710	104	G>A	Chuvash polycythemia cerebellar hemangioblastoma [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA357033 rs869025630 RCV000679030 RCV000208803	104	G>V	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM18064 RCV000589007 VAR_005711 rs1553619461 CA351751116	105	T>P	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome VHLD; type I [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000036542 CA020257 RCV000763091 COSM3364921 rs397516440 RCV002321506 VAR_034991	107	R>G	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome pheochromocytoma [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
RCV001379601 RCV000208864 rs193922609 CA357135 RCV000492448	107	R>H	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000486047 COSM422837 CA020262 rs193922609 VAR_005713 RCV000816283 RCV000492682 RCV000030583	107	R>P	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs869191373 RCV000817864	108	R>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV002269278 rs367594943 RCV002489087 RCV000458083 CA040275 RCV001019385	108	R>H	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs863224371 RCV002322272 RCV001338507	109	I>M	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002321574 RCV000767256 CA020268 COSM30221 rs398123482 RCV000079209	109	I>N	kidney Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1696140667 RCV001071787	110	H>Q	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1559426199 RCV000679031 RCV002531399	110	H>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000685144 VAR_005714 rs1559426203 CA351751322	111	S>C	Von hippel-lindau syndrome (vhl) Chuvash polycythemia VHLD; type II [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000780788 COSM18353 RCV001039507 CA351751321 rs1559426203	111	S>G	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000208794 COSM36341 rs869025631 CA357019	111	S>I	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs869025631 CA357091 RCV000208834 VAR_005715 RCV002517414 RCV000492721 COSM26151	111	S>N	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_005716 RCV001204150 rs765978945 CA040305 RCV000492675 COSM3734694 RCV000208866 COSM17894 COSM30226	111	S>R	kidney Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome VHLD; type I [Cosmic, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP
rs751232153 RCV001068352 CA351751359 RCV000780787 COSM30227	112	Y>*	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA357115 RCV000631262 rs869025633 RCV000208852 RCV000219736 RCV001289414	112	Y>C	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000002308 CA020277 RCV000698407 rs104893824 RCV002321468 VAR_005717	112	Y>H	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome VHLD; type IIA [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_034992 RCV000002316 CA020273 rs104893824	112	Y>N	Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD [Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000204250 CA348491 RCV000456132 RCV003165497 COSM30228 rs5030810	113	R>*	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV001295407 rs5030810	113	R>G	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs767062290 RCV002451138 CA040338 RCV000467414	113	R>P	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_005718	114	G>C	VHLD; type II [UniProt]	Yes	UniProt
COSM18065 RCV000208843 VAR_005719 COSM28431 CA357101 rs869025636	114	G>R	kidney Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I-II [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
COSM14384 RCV000707336 rs869025636 CA351751372 VAR_005720	114	G>S	kidney Chuvash polycythemia VHLD; type II [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA351753626 rs5030812 RCV002458188 RCV000679034 COSM17962	115	H>P	kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001044333 CA351753634 rs864622646 RCV000588324 RCV000590032 VAR_005723 COSM1651696 CA351753631	115	H>Q	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type II [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP UniProt NCI-TCGA
CA70049376 VAR_008098 rs5030812 RCV003169035 RCV000822511	115	H>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome VHLD; type II [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA16621930 VAR_005722 COSM14375 rs5030811	115	H>Y	kidney pancreas large_intestine Variant assessed as Somatic; impact. VHLD; type I [Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP
RCV000236337 RCV002450737 RCV000818505 rs879254230 CA10584229	116	L>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000767260 rs1559428051	116	L>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_005724	116	L>V	VHLD [UniProt]	Yes	UniProt
RCV000208786 rs869025640	117	W>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM17862 CA351753668 RCV000767261 COSM14399 rs1559428056	117	W>*	kidney large_intestine Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
COSM14328 RCV000154124 COSM479172 RCV001020510 CA020294 RCV000723964 VAR_005725 rs727504215	117	W>C	kidney upper_aerodigestive_tract Von hippel-lindau syndrome (vhl) Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome VHLD; type I [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
RCV001069048 rs1696261074	117	W>G	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000208858 rs869025641 RCV001221660 RCV001589101	118	L>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM14312 CA70049399 RCV000492175 rs5030830 VAR_005726 RCV000801496 RCV001702663	118	L>P	kidney Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_005727 RCV000492280 rs5030830 CA351753694	118	L>R	Hereditary cancer-predisposing syndrome VHLD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1559428077 RCV002458373 COSM1417294 COSM18022 CA351753726 RCV000821822 RCV000767262 COSM97146	119	F>L	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM1417294 COSM18022 CA351753707 RCV002456285 rs1553619948 RCV000588483 COSM97146 VAR_005728 RCV000631289	119	F>L	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome pheochromocytoma and VHLD; type II [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_005729	119	F>S	VHLD; type II [UniProt]	Yes	UniProt
RCV000492390 rs1131690956	120	R>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001701790 CA357028 RCV000208800 RCV001379374 COSM479173 rs869025642	120	R>G	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_005730 CA357083 rs5030832 RCV000801501 COSM18009 RCV000208830 RCV000679035	121	D>G	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Von Hippel-Lindau syndrome VHLD; type I [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV001221169 rs5030832	121	D>V	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001020780 RCV001216349 rs1575927767	122	A>missing	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1696261924 RCV001067824	122	A>G	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001036041 RCV000479431 rs1064793291 CA16617788	122	A>S	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1064793291 CA351753762 RCV001858145 RCV000564632	122	A>T	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1696261924 RCV002456464 RCV001327637	122	A>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001759423 CA351753796 rs1559428091 RCV000707189	124	T>A	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000030585 RCV000679036 rs193922610 CA020308	124	T>I	Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000687965 rs869025644 RCV000208802	125	H>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA357127 RCV000208860 rs869025643	125	H>P	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs375401722 RCV002489086 RCV000462284 RCV002272247 RCV000479517 RCV000708764 CA040676	125	H>Y	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001384431 RCV000528640 rs1553619952	126	D>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001248335 rs1696262643	126	D>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000553383 rs1354593943 COSM14392 CA351753841 RCV001021117 RCV001764530	126	D>G	kidney Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs104893831 RCV000631278 RCV001766342 CA351753833	126	D>H	Von hippel-lindau syndrome (vhl) Chuvash polycythemia [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000129380 rs104893831 CA020313 RCV000631273 COSM18060 RCV003155081 RCV000663314 RCV001007623 RCV000679037	126	D>N	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001216308 rs1696262591	126	D>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000701611 rs1559428103	126	D>A	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
CA351753847 rs764053615 RCV001021148	126	D>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs104893831 RCV001236092 RCV000002318 VAR_034994 CA020319	126	D>Y	Von hippel-lindau syndrome (vhl) Chuvash polycythemia ECYT2 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000767263 rs1559428107	128	L>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_005731 RCV001232610 CA351753886 RCV000586899 rs1553619956	128	L>F	Chuvash polycythemia VHLD; type II [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs869025645 CA357088 RCV000208832	128	L>F	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_005732	129	L>LE	VHLD [UniProt]	Yes	UniProt
rs1559428119 RCV001855962 RCV000767264 CA351753904 COSM1417300	129	L>P	kidney Chuvash polycythemia adrenal_gland large_intestine Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs369018004 CA040734 RCV000568082 RCV000707457	129	L>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs104893830 COSM97148 RCV000588434 CA351753913	130	V>F	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1553619957 RCV000564829	130	V>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs104893830 CA020325 COSM14407 RCV001071915 VAR_005733 RCV000030586 RCV000002317 RCV000492250	130	V>L	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. ECYT2 and VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
COSM1731999 rs1064794272 VAR_005734 RCV002525827 CA16617789 RCV000482784 COSM25720	131	N>K	kidney Chuvash polycythemia Variant assessed as Somatic; impact. VHLD; type I [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000590750 rs1553619963 CA351753941 RCV002225684 COSM1417302 RCV002530908	131	N>S	Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Von Hippel-Lindau syndrome [Ensembl, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_005735	131	N>T	VHLD; type I [UniProt]	Yes	UniProt
rs1559428128 RCV000767265	132	Q>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000767266 rs5030813 CA10606205 COSM14356 RCV001859684 RCV000404768	132	Q>*	kidney Chuvash polycythemia pancreas Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1347416980 RCV000589183 CA351753958 RCV002377215	132	Q>P	Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000767267 rs1559428134	133	T>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1060503565 CA16611091 RCV002475890 RCV000473892	133	T>I	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1131690961 RCV000492347 CA351753973 COSM479174	133	T>P	kidney Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000208816 rs869025646	134	E>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA020338 VAR_034995 COSM18416 RCV000002307 rs119103278 COSM3364922	135	L>F	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome soft_tissue hemangioblastoma [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000679039 rs397516442 RCV000036544	136	F>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM17971 VAR_005737 CA70049495 RCV000767268 RCV000589290 rs5030833	136	F>C	kidney Von hippel-lindau syndrome (vhl) Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome pheochromocytoma and VHLD; type II [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC dbSNP
RCV002500765 rs878854125 CA10582115 RCV000563379 RCV001562617 COSM17763 RCV000231504	136	F>L	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
COSM17996 RCV000587621 CA040847 VAR_005736 RCV000679038 rs5030833	136	F>S	kidney Von hippel-lindau syndrome (vhl) Variant assessed as Somatic; 0.0 impact. large_intestine Von Hippel-Lindau syndrome soft_tissue VHLD [Cosmic, Ensembl, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP
VAR_008099	136	F>Y	VHLD [UniProt]	Yes	UniProt
RCV000767269 rs1559428164	138	P>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA040861 RCV001759686 RCV001064218 rs780178275 RCV001007630 COSM1417309	138	P>L	Chuvash polycythemia large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000524494 RCV001021981 rs587780732 RCV000123107 CA020349 RCV000679040	139	S>C	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000196415 RCV001317982 rs587780732 CA336394	139	S>F	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001318529 rs1696264596	139	S>P	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1131690955 RCV000492267	140	L>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs869025649 RCV000208805 RCV000631281	140	L>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs768637170 RCV000631287 CA351754113	140	L>F	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000767270 rs1559428180	140	L>HNYLCHLSN	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000474557 rs1553619976 RCV000564069	141	N>missing	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001211244 rs1696265107	141	N>D	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001206608 rs1696265107	141	N>H	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
CA16617790 RCV001066733 COSM3734701 RCV002475949 rs1064796570 RCV000479780 RCV000570825	141	N>S	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000631266 rs1553619979 COSM1417313 CA351754163	142	V>A	Chuvash polycythemia large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_005738 COSM14284 rs773556807 CA351754191 RCV000767271	143	D>E	kidney adrenal_gland Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type II [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000226491 RCV000492555 CA040938 rs372757722	143	D>H	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs869025651 RCV000208791	144	G>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM25682 rs869025650 RCV000208850 RCV000692586 CA357109	144	G>*	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA70049557 rs869025650 COSM1035874 CA351754199 RCV002332473 RCV000698934 RCV000631288 RCV002477597	144	G>R	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Chuvash polycythemia large_intestine endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000706591 RCV000208807 rs869025652	145	Q>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000767272 rs1559428217	145	Q>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs749704215 CA351754219 RCV000767273 COSM97150	145	Q>*	kidney Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs771727849 COSM18071 RCV000197591 CA337322 VAR_008100 RCV002327050	145	Q>H	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome VHLD [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD
rs749704215 RCV001052394	145	Q>K	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
CA348226 rs864622313 RCV000203944 RCV001352159	145	Q>L	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000811185 rs1575928079 CA351754253	146	P>L	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000479163 CA16611171 RCV002329078 VAR_034996 RCV000474921 rs1060503555	147	I>T	Chuvash polycythemia Hereditary cancer-predisposing syndrome pheochromocytoma [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000764459 CA16042063 rs1057517560 RCV000657081 RCV000470728 RCV000455006 RCV000411268 RCV000562695	147	I>V	Von hippel-lindau syndrome (vhl) Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Ensembl, NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs869025653 RCV001387330 RCV000208793	148	F>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_005739	148	F>del	VHLD; type I [UniProt]	Yes	UniProt
rs869025653 RCV000208839	149	A>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000767274 rs1559428232	149	A>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs587780077 RCV000208855 RCV001853329 COSM17651 CA357120	149	A>P	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001854559 rs587780077 RCV000492260 CA020355 RCV000115746 COSM1417320 RCV000208783	149	A>S	Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Ensembl, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_005740 rs587780077 RCV002327073 COSM1417319 CA357066 RCV000208822	149	A>T	Von hippel-lindau syndrome (vhl) large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome soft_tissue VHLD; type II [Ensembl, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs1696266503 RCV001317824	149	A>V	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001061553 rs1696266605	150	N>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000767275 RCV000175633 rs794727253 RCV000796988	150	N>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000483327 RCV002328898 CA041030 RCV003114530 RCV000534480 rs760184234 RCV000410629	150	N>S	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000217917 rs876659313 CA10578182	151	I>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA357068 rs869025655 RCV000208823 COSM14389	151	I>S	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs869025655 RCV000590238 RCV000705307 RCV000492569 RCV002287415 CA351754359 COSM17934	151	I>T	Neoplasm kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [ClinVar, Cosmic, Ensembl, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV002290579 rs876659313 RCV003160518 CA351754350 RCV001063276	151	I>V	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM1738373 RCV000030587 CA020365 rs193922611 RCV001022748	153	L>Q	adrenal_gland Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000631264 rs1553619993 CA351754403	154	P>A	Von hippel-lindau syndrome (vhl) Chuvash polycythemia [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351754410 RCV000804483 RCV002336632 VAR_005741 COSM18266 rs1399097617	154	P>L	kidney Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome VHLD; type II [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
CA351754408 RCV000679041 RCV000698100 RCV002334238 rs1399097617	154	P>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001046833 COSM1417323 rs1553619993 CA351754405 RCV000566330 RCV001420952	154	P>S	Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Ensembl, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000767276 rs1559428267	155	V>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_005742	155	V>G	VHLD; type II [UniProt]	Yes	UniProt
COSM14289 RCV001577162 RCV001022829 COSM17928 rs869025659 RCV001323712 CA16621937	155	V>L	Chuvash polycythemia kidney Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinVar dbSNP ClinGen cosmic curated Ensembl
COSM18152 CA357026 RCV002515564 rs869025659 VAR_008101 RCV000208799	155	V>M	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. skin VHLD; with RCC [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_005743 RCV000631280 RCV000036543 CA020394 RCV000492752 RCV000487045 rs397516441	156	Y>C	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome pheochromocytoma and VHLD; type I [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_005744	156	Y>D	VHLD; type I [UniProt]	Yes	UniProt
rs869025660 CA357133 COSM18025 VAR_005746 RCV000208862 RCV001289415	157	T>I	kidney Von Hippel-Lindau syndrome VHLD; type II [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_005747	157	T>TF	VHLD; type I [UniProt]	Yes	UniProt
RCV000208814 rs869025661	158	L>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000161088 RCV000208846 VAR_005748 CA020399 COSM14387 RCV001072084 RCV000492547 rs121913346	158	L>P	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Renal cell carcinoma, papillary, 1 (rccp1) VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA16602515 rs121913346 RCV000428620 COSM14368	158	L>Q	kidney Von hippel-lindau syndrome (vhl) Papillary renal cell carcinoma type 1 Variant assessed as Somatic; impact. Renal cell carcinoma, papillary, 1 (rccp1) [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1559429613 RCV002334267 CA351756068 RCV001575396 VAR_005749 COSM17657 RCV000688156	158	L>V	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. soft_tissue VHLD; type I [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000589692 rs1553620305	159	K>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001023000 COSM144975 CA351756078 rs1575932011 VAR_005750	159	K>E	adrenal_gland Hereditary cancer-predisposing syndrome VHLD; type II [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000687350 RCV001001406 RCV000208863 RCV000767277 rs730882020 RCV000161061	160	E>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002484264 rs1696354965 RCV001231369	160	E>Q	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
CA279917 RCV000203510 rs864321641	160	E>V	Pheochromocytoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000791367 RCV001280922 rs5030818 COSM17612 RCV000002301 RCV001770028 RCV000492225 CA020408 RCV000161091 RCV000437445	161	R>*	Nonpapillary renal cell carcinoma Von hippel-lindau syndrome (vhl) Familial infantile myasthenia Papillary renal cell carcinoma type 1 Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome kidney Chuvash polycythemia pancreas Variant assessed as Somatic; impact. soft_tissue paratesticular_tissues Renal cell carcinoma, papillary, 1 (rccp1) [ClinVar, Ensembl, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA16621941 VAR_005753 COSM1684702 RCV000756901 RCV001855883 RCV002332535 rs5030818	161	R>G	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Renal cell carcinoma, papillary, 1 (rccp1) VHLD; type II [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_005752	161	R>P	pheochromocytoma and VHLD; type I [UniProt]	Yes	UniProt
COSM18097 RCV000563066 VAR_005751 RCV000208848 RCV000161092 rs730882035 CA020413 RCV000456958	161	R>Q	Von hippel-lindau syndrome (vhl) Chuvash polycythemia adrenal_gland autonomic_ganglia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. pheochromocytoma and VHLD; type II [Ensembl, ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1696355550 RCV001310082	162	C>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001373035 RCV000767278 RCV000564563 rs1553620312	162	C>missing	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001193296 RCV002339489 rs1696355438	162	C>missing	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA357112 rs5030622 RCV001061348 RCV003165513 RCV000208851 COSM18258	162	C>*	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV002513389 CA020418 RCV000036548 rs397516444 VAR_005754 COSM25676	162	C>F	kidney Von hippel-lindau syndrome (vhl) Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia Von Hippel-Lindau syndrome VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation [Cosmic, Ensembl, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP
RCV000587033 CA351756117 rs1553620313 COSM18073 RCV001060967 VAR_005755	162	C>R	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs5030622 CA357016 COSM18023 RCV000226031 RCV000208792 RCV000679043 VAR_005756 RCV000567560	162	C>W	kidney Chuvash polycythemia pancreas Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome VHLD; type I-II [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_005757 RCV000208789 rs397516444 COSM14408 CA357010	162	C>Y	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP
RCV000561095 RCV001224534 rs1553620318 CA351756135 RCV001553667	163	L>F	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000002319 CA020423 COSM14355 RCV001231697 rs28940297 VAR_034998	163	L>P	kidney Renal cell carcinoma with paraneoplastic erythrocytosis Chuvash polycythemia large_intestine Variant assessed as Somatic; impact. RCC; with paraneoplastic erythrocytosis; inhibits binding to HIF1AN [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000474133 rs28940297 COSM1715966 CA16611277	163	L>R	Chuvash polycythemia small_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000485182 rs5030819 RCV000792769 RCV000208820 COSM14397 RCV002336585 CA357060	164	Q>*	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs5030819 CA351756145 RCV000767279	164	Q>E	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000756902 RCV000538803 rs1352275281 COSM17662 RCV002508221 VAR_008102 RCV001382402 CA351756154 CA351756157 RCV001023281	164	Q>H	Hereditary cancer-predisposing syndrome kidney Chuvash polycythemia adrenal_gland VHLD [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD UniProt
CA020429 RCV001023261 COSM14283 rs267607170 RCV000002326 VAR_005758 RCV001052383	164	Q>R	Von hippel-lindau syndrome (vhl) Chuvash polycythemia adrenal_gland Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome VHLD; type II [Ensembl, ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA351756163 RCV000804147 rs1575932103	165	V>F	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351756169 rs1575932110 RCV000808116	165	V>G	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000208854 rs869025663	166	V>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM1417333 CA020442 RCV001023359 rs397516445 RCV001701727 RCV000036549	166	V>A	Von hippel-lindau syndrome (vhl) large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Ensembl, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_008103 rs397516445 COSM17913 CA351756176 RCV000767280	166	V>D	kidney Von hippel-lindau syndrome (vhl) pancreas Von Hippel-Lindau syndrome VHLD; with RCC [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
COSM17982 VAR_005759 rs104893825 RCV002288459 RCV001851578 CA020436 RCV000002310 RCV000220823	166	V>F	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia autonomic_ganglia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome VHLD; type IIA [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA351756175 RCV000767281 rs397516445 COSM17786	166	V>G	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs5030820 COSM25673 VAR_005760 RCV000002304 CA020446 RCV000466046 RCV002336073	167	R>G	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Renal cell carcinoma, papillary, 1 (rccp1) VHLD; type I-II [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
CA351756178 RCV000631284 rs5030821	167	R>L	Von hippel-lindau syndrome (vhl) Chuvash polycythemia [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA351756177 rs5030821 RCV000492510 RCV000767282	167	R>P	Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
COSM17983 RCV000325074 rs5030821 RCV000506694 VAR_005761 RCV000213850 RCV000627745 CA020454 RCV000002300	167	R>Q	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome pheochromocytoma and VHLD; type II; common mutation [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
RCV001770029 RCV000002303 rs5030820 VAR_005762 RCV000435817 RCV000627746 CA020450 RCV000002302 RCV000763092 RCV000132159 RCV000213079 COSM14311	167	R>W	Nonpapillary renal cell carcinoma Von hippel-lindau syndrome (vhl) Pheochromocytoma Papillary renal cell carcinoma type 1 adrenal_gland Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome endometrium kidney Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia large_intestine Renal cell carcinoma, papillary, 1 (rccp1) pheochromocytoma and VHLD; type II; common mutation [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000079210 RCV000723632 RCV001023415 RCV000818637 rs398123483	168	S>missing	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001224455 rs1696357569	169	L>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
COSM17837 CA351756191 rs1131690962 RCV000492632	169	L>P	kidney Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs864321642 CA279950 COSM253382 RCV000203560	170	V>A	kidney Pheochromocytoma large_intestine [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM18264 RCV002533922 RCV000767283 RCV001701154 rs864321642 VAR_005763 RCV002334429 CA351756195	170	V>D	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome VHLD; type II [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_005764	170	V>F	VHLD; type II [UniProt]	Yes	UniProt
VAR_005765	170	V>G	VHLD; type I [UniProt]	Yes	UniProt
rs1553620326 RCV001210329 RCV002483543 RCV000569840 CA351756194	170	V>I	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351756192 rs1553620326 RCV001028059	170	V>L	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1365445365 CA351756204 COSM14374 RCV000631263 RCV002343199	171	K>N	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV001299192 rs1696358528	171	K>R	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs1575932228 RCV001023675 CA351756213 COSM97152	173	E>*	kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA351756221 rs1575932235 RCV000794453	174	N>S	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000461022 rs1060503566 CA16611095	174	N>Y	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
COSM17789 COSM1169455 rs5030835 CA020466 RCV001388392 RCV000549585	175	Y>*	kidney Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome [Cosmic, Ensembl, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs193922613 RCV000492408 CA020462 RCV000533687 RCV000030589	175	Y>C	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_005766	175	Y>D	VHLD; type I [UniProt]	Yes	UniProt
RCV001359453 CA351756230 rs193922613 RCV001023797 RCV001536627	175	Y>F	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000767284 rs1559429711	176	R>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000799447 CA351756232 rs1575932259 RCV002345780	176	R>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs762748790 RCV001313310 CA041381	176	R>S	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_008104	176	R>W	VHLD [UniProt]	Yes	UniProt
RCV000855722 rs1575932266	177	R>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000660352 rs1553620331 RCV000657387	177	R>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1559429717 RCV000767285 COSM17866 CA351756239	177	R>*	kidney Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_005767	177	R>RLRVKPE	VHLD; type I [UniProt]	Yes	UniProt
rs766088261 RCV001320544 CA041420	177	R>S	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000767286 RCV002343616 rs1559429736 RCV002536594	178	L>missing	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA351756245 VAR_005768 RCV000631291 RCV000767287 COSM1651695 rs5030822 RCV000492520	178	L>P	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. VHLD; type I-II; common mutation [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA70052370 rs5030822 VAR_005769 RCV000767288	178	L>Q	Von Hippel-Lindau syndrome VHLD; type II [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000767289 CA351756248 rs5030822 COSM18010	178	L>R	kidney Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs755146587 RCV000694261 CA041435	178	L>V	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs767780451 CA041455 COSM14313 RCV001704601 RCV002350061 RCV000705398	179	D>N	Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1559429750 RCV000767290 RCV001174736 CA351756282	180	I>S	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA020469 RCV000524495 RCV000480432 VAR_005770 RCV000569566 RCV002467588 RCV000148921 rs377715747	180	I>V	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Enchondromatosis VHLD; type I [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000208795 rs869025664 RCV000805034	181	V>missing	Chuvash polycythemia Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1553620340 RCV000631290 CA351756307	181	V>A	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002257540 RCV003153527 RCV002465580 rs878854127 RCV000229544 CA10582117 RCV000662874	181	V>I	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs869025665 RCV000208835	182	R>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000492761 rs1131690958	182	R>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000235376 CA041490 rs778205243 RCV000663322 RCV001024120 COSM1566373 RCV000204757	182	R>G	Chuvash polycythemia large_intestine Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA041507 RCV000214081 RCV000704890 rs749774529 RCV001543676 COSM14316 RCV001570193	182	R>K	Von hippel-lindau syndrome (vhl) Chuvash polycythemia large_intestine Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA351756315 RCV001205464 rs749774529	182	R>T	Von hippel-lindau syndrome (vhl) Chuvash polycythemia [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1559429778 RCV000767291	183	S>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000002299 CA020473 RCV003162205 rs5030823 RCV000703889 RCV000208867 COSM14380	183	S>*	kidney Papillary renal cell carcinoma type 1 Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Renal cell carcinoma, papillary, 1 (rccp1) [Cosmic, ClinVar, Ensembl]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV002349982 RCV001007624 RCV000476376 RCV001770359 rs5030823 CA041537	183	S>L	Nonpapillary renal cell carcinoma Chuvash polycythemia Hereditary cancer-predisposing syndrome Renal cell carcinoma, papillary, 1 (rccp1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs5030823 RCV000203537 RCV001853277 CA277912	183	S>W	Pheochromocytoma Chuvash polycythemia Renal cell carcinoma, papillary, 1 (rccp1) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001258069 CA16617792 COSM17854 VAR_005772 rs1064793878 RCV000484822	184	L>P	kidney large_intestine Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_005771	184	L>R	VHLD; type I [UniProt]	Yes	UniProt
RCV001345511 rs1696361913	184	L>V	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000208826 COSM422841 COSM18356 CA357075 rs864622109 RCV001377065 RCV000219064	185	Y>*	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
RCV002485365 RCV000565491 RCV000208797 CA041601 rs561874453 RCV000631260 RCV000236099	185	Y>C	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA351756363 rs768390987 RCV000631285	185	Y>H	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs587778744 CA020484 RCV003162559 RCV000122261 RCV001038969	186	E>D	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_005774 RCV000767292 rs1559429813	186	E>missing	VHLD Von Hippel-Lindau syndrome [UniProt, ClinVar]	Yes	ClinVar UniProt dbSNP
RCV000148924 VAR_005773 RCV000698671 RCV000589801 CA020480 RCV001024290 rs367545984 COSM168255	186	E>K	Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia large_intestine Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome VHLD; type I [NCI-TCGA, ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs367545984 RCV001316784	186	E>Q	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
VAR_005774 rs1559429813	186	E>del	VHLD [UniProt]	Yes	UniProt dbSNP
rs1559429824 RCV000767294 CA351756399 COSM25678 RCV002536595 VAR_005775	188	L>P	kidney Chuvash polycythemia Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. VHLD; type I-II [Cosmic, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1559429824 CA351756398 VAR_005776 RCV000767293 COSM17800	188	L>Q	kidney Von Hippel-Lindau syndrome VHLD; type I [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs1559429824 RCV001246640	188	L>R	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000210199 rs5030824 RCV000002311 RCV000480890 COSM18026 VAR_005777 RCV000002312 CA020488 RCV000002313 RCV000627743	188	L>V	kidney Von hippel-lindau syndrome (vhl) Pheochromocytoma Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome ECYT2, pheochromocytoma and VHLD; type IIA [Cosmic, Ensembl, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1559429829 RCV000767295	189	E>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1559429840 RCV000697499	190	D>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000002323 VAR_034999 RCV001219111 rs28940301 CA020495	191	H>D	Chuvash polycythemia ECYT2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs370050374 RCV000161093 RCV000200136 CA020500 RCV002345555	191	H>P	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA041703 RCV001292677 RCV002345864 RCV000815290 rs370050374	191	H>R	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000767296 rs902694906 CA351756444 RCV000679044 RCV000631274 RCV002343200 COSM14353	192	P>L	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
CA70052552 COSM1417341 rs902694906 RCV001024492 RCV001294333	192	P>R	Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
rs28940300 RCV000704063 RCV002490296 CA020501 RCV001024480 COSM18386 RCV000236065 VAR_035000 RCV000002322	192	P>S	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome ECYT2 [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD
RCV003168861 rs1060503558 RCV000464021 CA16611097	193	N>K	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001024530 rs879254225 CA10584231 RCV000537589 RCV000236061	193	N>S	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000492180 CA351756475 RCV000547627 rs1131690963	194	V>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs5030825 RCV000492237 RCV001030024 CA70052558 COSM14359	195	Q>*	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV002354644 rs878854128 RCV000227376 CA10582118	195	Q>H	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1553620362 RCV000660353	196	K>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM30293 RCV000177084 RCV000724622 rs281860296 CA020507	196	K>*	kidney Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [Cosmic, Ensembl, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000476155 RCV002356706 CA16611099 rs281860296	196	K>E	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs864321640 RCV000203546	197	D>missing	Pheochromocytoma [ClinVar]	Yes	ClinVar dbSNP
RCV000208841 rs869025666	197	D>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs752940316 RCV000806798 CA041749	197	D>A	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001024703 RCV000208871 CA357145 COSM17666 rs869025667	198	L>P	adrenal_gland large_intestine Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_005778	198	L>R	ECYT2 and VHLD; type II [UniProt]	Yes	UniProt
rs1187217673 RCV001323713	198	L>V	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs760690217 CA041760 RCV001544814 RCV001024729 RCV000631279	199	E>A	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760690217 RCV001052780	199	E>G	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001234397 rs1325187978	199	E>K	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs760690217 RCV001209128	199	E>V	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV001042529 rs754016774 CA041814 COSM1417346	200	R>L	Chuvash polycythemia large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001143974 RCV000823835 RCV001024771 rs754016774 RCV000479035 CA041791	200	R>Q	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000574264 RCV002247239 RCV000722031 RCV000627742 CA020510 RCV000122262 rs28940298 RCV000161094 COSM18024 RCV000002320 RCV000148922 VAR_005779	200	R>W	kidney Nonpapillary renal cell carcinoma Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Acute leukemia of ambiguous lineage ECYT2 and VHLD; type I [Cosmic, ClinVar, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000467837 RCV002356705 RCV003153642 CA041863 rs779514074	202	T>I	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001203962 rs1696365502	203	Q>missing	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000767297 rs1559429876	203	Q>missing	Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000564767 RCV001347561 CA351756617 rs1270568049	203	Q>R	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs758853661 CA041909 RCV002358758 RCV000631268	204	E>*	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs758853661 CA041897 RCV002268256 RCV000695732	204	E>Q	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000161075 rs730882030	205	R>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA041940 RCV000481600 rs199926195 RCV000471333 COSM1035875 RCV002356704	205	R>C	Variant assessed as Somatic; 0.0 impact. Chuvash polycythemia Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD
CA351756654 RCV000686910 RCV002352119 rs199926195	205	R>G	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs777130107 COSM1232270 RCV000764460 RCV000481472 RCV000631259 CA041951 RCV001024946	205	R>H	Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000526063 rs777130107 RCV002358439 CA351756661	205	R>L	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000461877 CA16611072 rs1060503567	206	I>K	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1696366320 RCV001345169	207	A>T	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
RCV000461637 COSM14336 RCV002365666 CA16611076 rs1060503549	207	A>V	kidney Chuvash polycythemia Hereditary cancer-predisposing syndrome central_nervous_system [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV001345898 rs1696366534	208	H>R	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
rs121913347 RCV001240444 CA041967 RCV002366062	208	H>Y	Chuvash polycythemia Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1559429968 CA351756688 RCV000686219	209	Q>E	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs770746627 RCV002550907 CA351756691 RCV001025058 COSM1417348	209	Q>R	Chuvash polycythemia large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000115743 CA020530 RCV000492305 RCV000119153 RCV002267856 RCV000627744 rs138780791	210	R>Q	Von hippel-lindau syndrome (vhl) Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000662950 RCV000568942 RCV001582712 rs774380450 COSM17685 RCV002467673 RCV000204248 CA041992	210	R>W	Chuvash polycythemia Maffucci syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000287076 RCV000161101 RCV001704152 CA020534 RCV001025130 RCV000541199 rs200019083	211	M>L	Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000792729 rs1366708242 COSM1417350 CA351756699	211	M>T	Chuvash polycythemia large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV000575054 RCV000556062 COSM3944612 RCV000508553 RCV002490859 rs1553620389 CA351756706	212	G>*	lung Chuvash polycythemia Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001071426 rs1553620389	212	G>R	Chuvash polycythemia [ClinVar]	Yes	ClinVar dbSNP
CA351756715 rs1553620394 RCV000631283	213	D>G	Chuvash polycythemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1559430011 CA351756724 RCV000767299	214	D>C	Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA357103 rs869025668 RCV000208844	214	D>L	Von Hippel-Lindau syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV002550599 CA351756718 RCV000987111 RCV001025239 rs1575932781	214	D>R	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA351756723 RCV000767298 rs1559430011	214	D>W	Von hippel-lindau syndrome (vhl) Von Hippel-Lindau syndrome [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA039578 rs545406510	6	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1311403806 COSM18361 CA351747044	7	N>D	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs587780730 CA040085	9	D>Y		No	ClinGen ExAC TOPMed gnomAD
RCV000479586 rs1553619276	12	E>missing		No	ClinVar dbSNP
CA351747132 rs1064794788	12	E>*		No	ClinGen TOPMed gnomAD
rs1380706798 CA351747133	12	E>V		No	ClinGen TOPMed gnomAD
rs1159027899 CA351747200	15	A>V		No	ClinGen gnomAD
CA351747210 rs1060503556	16	E>K		No	ClinGen gnomAD
CA351747266 rs1332272921	18	A>T		No	ClinGen gnomAD
CA351747287 rs1382387188	19	G>S		No	ClinGen gnomAD
TCGA novel	21	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768452685 CA70042233	22	E>D		No	ClinGen Ensembl
COSM18359 rs745338799 CA351747431	25	P>S	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA351747523 rs1198287627 COSM1417283	28	D>E	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA351747529 rs1277221408	29	G>S		No	ClinGen gnomAD
COSM18325 CA70042266 rs868726923	33	S>A	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1398333169 CA351747799	37	E>D		No	ClinGen gnomAD
CA70042292 rs867958699	38	S>Y		No	ClinGen Ensembl
rs779910104 CA039342	38	S>A		No	ClinGen ExAC TOPMed gnomAD
CA70042314 rs368473853	39	G>V		No	ClinGen ESP TOPMed gnomAD
COSM17690 rs776399733 CA351747893	40	P>S	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA039380 rs776399733	40	P>T		No	ClinGen ExAC TOPMed gnomAD
CA70042349 rs202164771	43	S>Y		No	ClinGen TOPMed
rs199959170 CA70042391	48	L>P		No	ClinGen ExAC gnomAD
rs1252338161 CA351748218 COSM18365	49	G>D	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs869025615	55	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328776664 CA351748518	55	E>V		No	ClinGen TOPMed
rs752980085 CA039553	56	A>D		No	ClinGen ExAC TOPMed gnomAD
CA351748538 rs1421828060	56	A>T		No	ClinGen gnomAD
COSM17665 rs764755691 CA351748614	57	G>E	adrenal_gland [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764755691 CA039599	57	G>V		No	ClinGen ExAC gnomAD
TCGA novel	58	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	58	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	59	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487408934 CA351748776	64	R>C		No	ClinGen gnomAD
rs1171336955 CA351748928	69	R>H		No	ClinGen gnomAD
rs5030648	76	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351749267 rs1269136170	77	C>R		No	ClinGen TOPMed
TCGA novel	79	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351750529 rs193922608	81	P>Q	Von hippel-lindau syndrome (vhl) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA040024 rs754517578	83	V>A		No	ClinGen ExAC
rs864622545	87	V>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs864622545	87	V>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	88	W>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	88	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000780789 CA351750702 COSM17640 rs1559426031	90	N>Y	kidney [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1559426047 RCV000679027	91	F>missing		No	ClinVar dbSNP
TCGA novel	91	F>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399167911 CA351750796	94	E>D		No	ClinGen TOPMed
rs1559426095	98	Y>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346874866 CA351750985	100	T>R		No	ClinGen gnomAD
TCGA novel	101	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA040253 COSM17737 rs761240835	105	T>M	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
VAR_005712 COSM18082 rs1446876735 CA351751181	106	G>D	lung lung cancer [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt dbSNP gnomAD
CA351751195 rs397516440	107	R>C	Von hippel-lindau syndrome (vhl) [Ensembl]	No	ClinGen gnomAD
rs367594943 CA040290	108	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	110	H>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17855706 VAR_055087 CA70046309 COSM3364891	110	H>Y	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP
rs767062290 CA351751369	113	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM17936 rs1559428039 CA351753606	114	G>D	kidney upper_aerodigestive_tract large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	116	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	116	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351753679 COSM17862 COSM14399 rs727504215	117	W>*	kidney Von hippel-lindau syndrome (vhl) Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, Ensembl, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA70049395 rs773684010	118	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1131691526 RCV000494175	119	F>missing		No	ClinVar dbSNP
TCGA novel	119	F>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	120	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_034993	122	A>I	pheochromocytoma; requires 2 nucleotide substitutions [UniProt]	No	UniProt
TCGA novel	127	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	130	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA70049472 rs200131013	130	V>A		No	ClinGen 1000Genomes
TCGA novel	130	V>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347416980 COSM1417303 CA351753961	132	Q>R	Von hippel-lindau syndrome (vhl) large_intestine [Ensembl, Cosmic]	No	ClinGen cosmic curated gnomAD
rs1559428134	133	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	135	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	135	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs397516442	136	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351754060 rs1362915830	137	V>L		No	ClinGen gnomAD
TCGA novel	138	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	139	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768637170 CA040884	140	L>V		No	ClinGen ExAC gnomAD
TCGA novel	141	N>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA040900 rs781618785	141	N>K		No	ClinGen ExAC gnomAD
TCGA novel	141	N>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs869025651	144	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	144	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749704215 CA040972	145	Q>E		No	ClinGen ExAC gnomAD
CA70049580 COSM33998 rs878937319	146	P>A	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	147	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	148	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA041009 rs775038762 COSM1417318	148	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs869025653	148	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs869025653	149	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs794727253	150	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001193295 rs1696267007	152	T>P		No	ClinVar dbSNP
TCGA novel	152	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_034997	156	Y>N	pheochromocytoma [UniProt]	No	UniProt
TCGA novel	157	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	160	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs730882020	160	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000480482 rs1064794037	161	R>missing		No	ClinVar dbSNP
TCGA novel	161	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	168	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	168	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437199117	170	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA351756210 rs1474961317	172	P>L		No	ClinGen TOPMed
TCGA novel	172	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473638511 CA351756205	172	P>T		No	ClinGen gnomAD
TCGA novel	173	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351756242 rs1470394966	177	R>T		No	ClinGen gnomAD
TCGA novel	179	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	182	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351756325 rs1224916824	182	R>S		No	ClinGen gnomAD
TCGA novel	185	Y>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	185	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA041587 rs768390987	185	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs561874453 CA351756368	185	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	186	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367545984 CA16604432 COSM25670 RCV000432980	186	E>*	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM17920 rs762790375 CA041671	189	E>K	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs121913345	190	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351756437 rs28940300	192	P>A		No	ClinGen ExAC gnomAD
TCGA novel	192	P>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427691780 CA351756469	194	V>M		No	ClinGen Ensembl
rs1064794951 CA16617793 RCV000487120	197	D>H		No	ClinGen ClinVar Ensembl dbSNP
VAR_035001	198	L>Q	pheochromocytoma [UniProt]	No	UniProt
CA351756553 rs1325187978	199	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	200	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750711842 CA041878	203	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	204	E>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199926195 CA351756652	205	R>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	206	I>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	208	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	208	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770746627 CA041981	209	Q>L		No	ClinGen ExAC gnomAD
rs775624944 CA351756717	213	D>E		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with P40337

No regional properties for P40337

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P40337

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cytoplasm Cell membrane ; Peripheral membrane protein Endoplasmic reticulum Nucleus	Found predominantly in the cytoplasm and with less amounts nuclear or membrane-associated (PubMed:9751722) Colocalizes with ADRB2 at the cell membrane (PubMed:19584355)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
intracellular non-membrane-bounded organelle	Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

7 GO annotations of molecular function

Name	Definition
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.
transcription elongation factor activity	A molecular function that stimulates the elongation properties of the RNA polymerase during the elongation phase of transcription. A subclass of transcription elongation factors enable the transition from transcription initiation to elongation, while another class rescue stalled RNA polymerases.
ubiquitin ligase-substrate adaptor activity	The binding activity of a molecule that brings together a ubiquitin ligase and its substrate. Usually mediated by F-box BTB/POZ domain proteins.
ubiquitin-protein transferase activity	Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.

16 GO annotations of biological process

Name	Definition
amyloid fibril formation	The generation of amyloid fibrils, insoluble fibrous protein aggregates exhibiting beta sheet structure, from proteins.
cell morphogenesis	The developmental process in which the size or shape of a cell is generated and organized.
cellular response to hypoxia	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of receptor signaling pathway via JAK-STAT	Any process that stops, prevents, or reduces the frequency, rate or extent of a receptor signaling pathway via JAK-STAT.
negative regulation of signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction.
negative regulation of transcription elongation by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II.
negative regulation of transcription from RNA polymerase II promoter in response to hypoxia	Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a hypoxia stimulus.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5Q9Z2	VHL	von Hippel-Lindau disease tumor suppressor	Canis lupus familiaris (Dog) (Canis familiaris)	PR
P40338	Vhl	von Hippel-Lindau disease tumor suppressor	Mus musculus (Mouse)	PR
Q64259	Vhl	von Hippel-Lindau disease tumor suppressor	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPRRAENWDE	AEVGAEEAGV	EEYGPEEDGG	EESGAEESGP	EESGPEELGA	EEEMEAGRPR
70	80	90	100	110	120
PVLRSVNSRE	PSQVIFCNRS	PRVVLPVWLN	FDGEPQPYPT	LPPGTGRRIH	SYRGHLWLFR
130	140	150	160	170	180
DAGTHDGLLV	NQTELFVPSL	NVDGQPIFAN	ITLPVYTLKE	RCLQVVRSLV	KPENYRRLDI
190	200	210
VRSLYEDLED	HPNVQKDLER	LTQERIAHQR	MGD