Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VIPR2_chr7_159023175_159149867	159063806	C C	CGGGGGTC others(183): Show CGGGGGTCCTGGTGGGGTCTGGGGGGCCTGGTGGGGTCTGGGGGTCCTGG TGGGGTCCGGGGGTCCTGGTGGGGTCTGGGGGGCCTGGTGGGGTCTGGGG GTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCTGGGGGGCCTGGTGGGG TCCGGGGGTCCTGGTGGGGTCTGGGGGGCCTGGTGGGGTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0014 a0001c0004t0004g0014	1	267	0.0037	190	c.358 others(207): Show c.358-5229_358-5228insAGACCCCACCAGGCCCCCCAGACCCCAC CAGGACCCCCGGACCCCACCAGGCCCCCCAGACCCCACCAGGACCCCCGG ACCCCACCAGGACCCCCAGACCCCACCAGGCCCCCCAGACCCCACCAGGA CCCCCGGACCCCACCAGGACCCCCAGACCCCACCAGGCCCCCCAGACCCC ACCAGGACCCCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159063878	G G	GGTCTGGG others(183): Show GGTCTGGGGGTCCTGGTGGAGTCTGGGGGTCCTGGTGGGGTCTGGGGGTC CTGGTGGGGTCTGGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCT GGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGGGTCCGGGGGTCCTGGT GGGGTCTGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03834.hp2 HG02602.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0142 a0001c0003t0004g0144 a0001c0003t0004g0142 a0001c0003t0004g0144	2	161	0.0124	190	c.358 others(207): Show c.358-5301_358-5300insTCCACCAGGACCCCCAGACCCCACCAGG ACCCCCAGACCCCACCAGGACCCCCGGACCCCACCAGGACCCCCAGACCC CACCAGGACCCCCAGACCCCACCAGGACCCCCGGACCCCACCAGGACCCC CAGACCCCACCAGGACCCCCAGACCCCACCAGGACCCCCAGACTCCACCA GGACCCCCAGAC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(183): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCAGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02970.hp1 HG06807.hp1 HG01952.hp1 HG02970.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0008 a0001c0005t0008g0310 a0001c0005t0008g0311 a0001c0005t0008g0008 a0001c0005t0008g0310 a0001c0005t0008g0311	3	30	0.1000	190	c.357 others(209): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCTGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(183): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCAGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGTTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02451.hp2 others(8): Show HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02717.hp2 HG02895.hp1 HG02976.hp1 HG03139.hp2 HG03579.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0029 a0001c0004 a0001c0029	a0001c0004t0004 a0001c0004t0007 a0001c0004t0011 others(1): Show a0001c0004t0004 a0001c0004t0007 a0001c0004t0011 a0001c0029t0008	a0001c0004t0004g0014 a0001c0004t0004g0019 a0001c0004t0004g0021 others(8): Show a0001c0004t0004g0014 a0001c0004t0004g0019 a0001c0004t0004g0021 a0001c0004t0004g0023 a0001c0004t0004g0180 a0001c0004t0004g0181 a0001c0004t0004g0182 a0001c0004t0007g0179 a0001c0004t0011g0017 a0001c0004t0011g0314 a0001c0029t0008g0022	11	38	0.2895	190	c.357 others(209): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAACCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCTGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(183): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01496.hp1 HG03239.hp2 others(1): Show HG01168.hp1 HG01496.hp1 HG03239.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0035 a0001c0001t0015 a0001c0001t0035	a0001c0001t0015g0079 a0001c0001t0015g0080 a0001c0001t0015g0081 others(1): Show a0001c0001t0015g0079 a0001c0001t0015g0080 a0001c0001t0015g0081 a0001c0001t0035g0082	4	31	0.1290	190	c.357 others(209): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VPS16_chr20_2835745_2871732	2842890	A A	ATCGATAG others(183): Show ATCGATAGATACATCTATCTATCGATCGATAGATACATCTATCTATCGAT CGATAGATACATCTATCTATCGATCGATAGATACATCTATCTATCGATCG ATAGATACATCTATCTATCGATCGATAGATACATCTATCTATCGATCGAT AGATACATCTATCTATCGATCGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp2 HG02622.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0304 a0001c0004t0001g0032 a0001c0004t0001g0304	2	394	0.0051	190	c.53+ others(205): Show c.53+2064_53+2065insCGATAGATACATCTATCTATCGATCGATAG ATACATCTATCTATCGATCGATAGATACATCTATCTATCGATCGATAGAT ACATCTATCTATCGATCGATAGATACATCTATCTATCGATCGATAGATAC ATCTATCTATCGATCGATAGATACATCTATCTATCGATCGATAGATAGAT GTATCTATCT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VRK2_chr2_58041806_58164871	58137198	A A	ATCATATA others(183): Show ATCATATATATGATACATGTATCATATATATGATACATGTATCATATATG ATACATATGTATCATATATATGATACATATGTATCATATATATGATACAT ATGTATCATATATATGATACATATGTATCATATATATGATACATATGTAT CATATATATGATACATATGTATCATATATATGATACATATG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	326	0.0031	190	c.856 others(207): Show c.856+2000_856+2001insCATATATATGATACATGTATCATATATA TGATACATGTATCATATATGATACATATGTATCATATATATGATACATAT GTATCATATATATGATACATATGTATCATATATATGATACATATGTATCA TATATATGATACATATGTATCATATATATGATACATATGTATCATATATA TGATACATATGT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZBTB42_chr14_104796101_104809712	104808072	C C	CAGCACCC others(183): Show CAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0000 a0001c0001t0008g0000	1	53	0.0189	190	c.56 others(201): Show c.5606_*5607insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAG	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3361		chr14	TogoVar
ZBTB42_chr14_104796101_104809712	104808072	C C	CAGCACCC others(183): Show CAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01169.hp2 HG04184.hp2 others(3): Show HG01099.hp2 HG01169.hp2 HG04184.hp2 NA18995.hp1 NA19065.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	6	58	0.1034	190	c.56 others(201): Show c.5606_*5607insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAG	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3361		chr14	TogoVar
ZBTB46_chr20_63738670_63836264	63836080	G G	GGGGAGAG others(183): Show GGGGAGAGGGCAGGGGCAGGGAGAGCGCGGGCAGGGCAGGGGCAGGGGAG AAGGCAGGGGCAGGGAGAGCGCAGGCAGGGCAGGGGAGAGGGCAGGGGCA GGGAGAGCGCGGGCAGGGCAGGGGAGAGGGCAGGGGCAGGGAGAGCGTGG GCAGGGCAGGGGCAGGGGAGAGCGCGGGCAGGGCAGGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0140 a0001c0007t0001g0140	1	314	0.0032	190	c.-50 others(201): Show c.-5018_-5017insTGCCCCTGCCCTGCCCGCGCTCTCCCCTGCCCCT GCCCTGCCCACGCTCTCCCTGCCCCTGCCCTCTCCCCTGCCCTGCCCGCG CTCTCCCTGCCCCTGCCCTCTCCCCTGCCCTGCCTGCGCTCTCCCTGCCC CTGCCTTCTCCCCTGCCCCTGCCCTGCCCGCGCTCTCCCTGCCCCTGCCC TCTCCC	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding		4817		chr20	TogoVar
ZFP42_chr4_187990771_188010046	187992000	G G	GGGGAGAG others(183): Show GGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	417	0.0024	190	c.-41 others(201): Show c.-4179_-4178insGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAG AGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTG GGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3770		chr4	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(183): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGACCGTGGGTGAGAGGGAGAGGGAGACCGTG GGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	125	0.0080	190	c.-41 others(201): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTG GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGTGAGAGG GAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGA GGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(183): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATAT CTATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCAT ATATACATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18963.hp1 NA18947.hp2 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0001 a0002c0002t0001g0004 a0001c0001t0004g0001 a0002c0002t0001g0004	2	167	0.0120	190	c.-46 others(201): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATATCTATCTCATATATATGTCCCATATATACATATCTC ATATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACA TATCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF470_chr19_56562468_56587894	56572377	T T	TATACACA others(183): Show TATACACATATATATATATGTATATATATATATACACATATATATATATG TATATATATATATACACATATATATATATGTATATATATATATACACATA TATATATATGTATATATATATATACACATATATATATATATATATATATA TATACACATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0137 a0004c0005t0002g0137	1	325	0.0031	190	c.60+ others(205): Show c.60+2009_60+2010insCACATATATATATATGTATATATATATATA CACATATATATATATGTATATATATATATACACATATATATATATGTATA TATATATATACACATATATATATATGTATATATATATATACACATATATA TATATATATATATATATATACACATATATATATATATATATATATATATA TATACACATA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF470_chr19_56562468_56587894	56572377	T T	TATATATA others(183): Show TATATATACACATATATATATATGTATATATATATATACACATATATATA TATGTATATATATATATACACATATATATATATGTATATATATATATACA CATATATATATATGTATATATATATATACACATATATATATATGTATATA TATATATACACATATATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0094 a0004c0005t0002g0094	1	325	0.0031	190	c.61- others(205): Show c.61-2010_61-2009insCACATATATATATATGTATATATATATATA CACATATATATATATGTATATATATATATACACATATATATATATGTATA TATATATATACACATATATATATATGTATATATATATATACACATATATA TATATGTATATATATATATACACATATATATATATGTATATATATATATA CACATATATA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF470_chr19_56562468_56587894	56572389	T T	TATATATA others(183): Show TATATATATGTGTATATATATATATATATATGTATATATATATATACACA TATATATATATGTATATATATATACATATATATATATGTATATATATATA TACACACATATATATATGTGTATATATATATATACACACACATATATATA TATATATATATATATATATATATATACACATATATATATAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0113 a0002c0003t0010g0113	1	249	0.0040	190	c.61- others(205): Show c.61-2004_61-2003insTATATATGTGTATATATATATATATATATG TATATATATATATACACATATATATATATGTATATATATATACATATATA TATATGTATATATATATATACACACATATATATATGTGTATATATATATA TACACACACATATATATATATATATATATATATATATATATATACACATA TATATATAAA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF516_chr18_76352682_76500242	76357468	G G	GAGAGTGG others(183): Show GAGAGTGGCGTACCCAGCGCAGAGTGGCGCACTCAGCGGAGAGTGGCGTA CCCAGCGCAGAGTGGCGCACCCAGCGCAGAGTGGCGTACCCAGCGGAGAG TGGCGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAG CGGAGAGTGGTGTACCCAGCGGAGAGTGGCGTACCCAGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0056 a0001c0001t0144g0056	1	129	0.0078	190	c.50 others(201): Show c.5029_*5030insGCGCTGGGTACGCCACTCTCCGCTGGGTACACCA CTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACGCCACTCTCCGCTGGG TACGCCACTCTCCGCTGGGTACGCCACTCTGCGCTGGGTGCGCCACTCTG CGCTGGGTACGCCACTCTCCGCTGAGTGCGCCACTCTGCGCTGGGTACGC CACTCT	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding		213		chr18	TogoVar
ZNF516_chr18_76352682_76500242	76357481	C C	CCAGCGCA others(183): Show CCAGCGCAGAGTGGCGCACTCAGCGGAGAGTGGCGTACCCAGCGCAGAGT GGCGCACCCAGCGCAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGC GGAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGTGT ACCCAGCGGAGAGTGGCGTACCCAGCGCAGAGTGGCGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA19011.hp1 NA19090.hp1 NA18990.hp1 NA19011.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0047 a0001c0001t0020 a0001c0001t0047	a0001c0001t0020g0153 a0001c0001t0020g0214 a0001c0001t0047g0085 a0001c0001t0020g0153 a0001c0001t0020g0214 a0001c0001t0047g0085	3	164	0.0183	190	c.50 others(201): Show c.5016_*5017insAGTGCGCCACTCTGCGCTGGGTACGCCACTCTCC GCTGGGTACACCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACGCC ACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACGCCACTCTGCGCTGG GTGCGCCACTCTGCGCTGGGTACGCCACTCTCCGCTGAGTGCGCCACTCT GCGCTG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding		200		chr18	TogoVar
ZNF543_chr19_57315472_57335770	57319369	C C	CATACATA others(183): Show CATACATATACATACATATACATACATATATATACATATACATACATATA TATACATATATACATATACATACATATATATACATATATATACATATATA CATATACATACATATATATACATATATATACACATACATACATATATACA TATATATACACATACATACATATATATACATATACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0004 a0004c0004t0003g0004	1	416	0.0024	190	c.-14 others(201): Show c.-1485_-1484insATACATATACATACATATACATACATATATATAC ATATACATACATATATATACATATATACATATACATACATATATATACAT ATATATACATATATACATATACATACATATATATACATATATATACACAT ACATACATATATACATATATATACACATACATACATATATATACATATAC ACATAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1102		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(183): Show CATATATACATATATATACATATACATACATATATATACATATATATACA TATACATACATATATATACATATATATACATATACATACATATATATACA TATATATACATATACATACATATATATACATATATATACATATACATACA TATATATACATATATATACATATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0024 a0001c0001t0036g0024	1	184	0.0054	190	c.-13 others(201): Show c.-1395_-1394insATATATACATATATATACATATACATACATATAT ATACATATATATACATATACATACATATATATACATATATATACATATAC ATACATATATATACATATATATACATATACATACATATATATACATATAT ATACATATACATACATATATATACATATATATACATATACATACATATAT ATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF618_chr9_113871309_114061593	113951421	A A	ATGTGTGT others(183): Show ATGTGTGTATATATATACACACACACATATATGTGTGTGTGTGTGTATAT ATATACACACATATATGTGTGTATATATATACACACACACATATATGTGT GTGTGTGTATATATATACACACATATATGTGTGTATATATATACACACAC ACATATATGTGTGTGTGTGTATATATATACACACATATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0089 a0001c0002t0075g0089	1	254	0.0039	190	c.34- others(207): Show c.34-17689_34-17688insATATATATACACACACACATATATGTGT GTGTGTGTGTATATATATACACACATATATGTGTGTATATATATACACAC ACACATATATGTGTGTGTGTGTATATATATACACACATATATGTGTGTAT ATATATACACACACACATATATGTGTGTGTGTGTATATATATACACACAT ATATGTGTGTGT	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF639_chr3_179318031_179343583	179341870	C C	CTTTTTTT others(183): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCGCT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02809.hp2 HG03471.hp2 others(1): Show HG01167.hp2 HG02809.hp2 HG03471.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0016 a0001c0001t0052 a0005c0007t0016 a0001c0001t0016 a0001c0001t0052 a0005c0007t0016	a0001c0001t0016g0040 a0001c0001t0016g0099 a0001c0001t0052g0098 others(1): Show a0001c0001t0016g0040 a0001c0001t0016g0099 a0001c0001t0052g0098 a0005c0007t0016g0100	4	410	0.0098	190	c.74 others(201): Show c.7448_*7449insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CAATCTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAAT	ZNF639	ENSG00000121864.10	transcript	ENST00000496856.6	protein_coding		3288		chr3	TogoVar
ZNF681_chr19_23734195_23763891	23761922	T T	TCCTTCCT others(183): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02886.hp1 HG02895.hp2 others(1): Show HG01069.hp1 HG02886.hp1 HG02895.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0123 a0001c0001t0001g0133 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0003g0178	4	268	0.0149	190	c.-31 others(201): Show c.-3174_-3173insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3032		chr19	TogoVar
ABCA8_chr17_68862289_68960392	68958518	A A	AATTATAT others(184): Show AATTATATATAATATATAATATATAATATAATTATATATAATATATAATA TAATTATATATAATATATAATATATAATATAATTATATATAATATATAAT ATAATTATATATAATATATAATATATAATATAATTATATATAATATATAA TATAATTATATATAATATATAATATAATTATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA18522.hp1 HG03041.hp1 NA18522.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0124 a0003c0008t0001g0125	2	267	0.0075	191	c.-34 others(202): Show c.-3467_-3466insATATATAATATATAATTATATTATATATTATATA TAATTATATTATATATTATATATAATTATATTATATATTATATATTATAT ATAATTATATTATATATTATATATAATTATATTATATATTATATATTATA TATAATTATATTATATATTATATATAATTATATTATATATTATATATTAT ATATAAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3127		chr17	TogoVar
ACER3_chr11_76855918_77031797	77005978	T T	TATAATAT others(184): Show TATAATATACATATATATATATTATATATATACATATATATATATTATAT ATATACATATATATATTATATATATACATATATATATTATATATATATAC ATATATATATTATATATATATACATATATATATTATATATATATACATAT ATATATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0138 a0001c0001t0052g0138	1	340	0.0029	191	c.497 others(208): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATACATATA TATATTATATATATATACATATATATATTATATATATATACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACATA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(184): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATATACATATATATATTATATATATATAC ATATATATATTATATATATATACATATATATATTATATATATATACATAT ATATATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01071.hp1 others(7): Show HG00639.hp1 HG01070.hp1 HG01071.hp1 NA18943.hp1 NA18963.hp2 NA18973.hp2 NA18983.hp2 NA19005.hp2 NA19065.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0050 others(3): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0050 a0001c0001t0051 a0001c0001t0061 a0001c0001t0063	a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0001t0002g0161 others(7): Show a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0028g0100 a0001c0001t0028g0186 a0001c0001t0050g0132 a0001c0001t0051g0145 a0001c0001t0061g0187 a0001c0001t0063g0166	10	286	0.0350	191	c.497 others(208): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATATACATA TATATATTATATATATATACATATATATATTATATATATATACATATATA TATTATATATATATACATATATATATTATATATATATACATATATATATT ATATATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(184): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATATACATATATATTATATATATATATAC ATATATATATTATATATATATACATATATATATTATATATATATACATAT ATATATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18946.hp2 NA18979.hp2 HG00323.hp2 NA18946.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0193 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0193	3	279	0.0108	191	c.497 others(208): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATATACATA TATATTATATATATATATACATATATATATTATATATATATACATATATA TATTATATATATATACATATATATATTATATATATATACATATATATATT ATATATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACOT1_chr14_73532143_73548796	73546924	T T	TAAAAATA others(184): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG00639.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	128	0.0156	191	c.32 others(202): Show c.3269_*3270insAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCC AGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ACOT1	ENSG00000184227.8	transcript	ENST00000311148.9	protein_coding		3129		chr14	TogoVar
ACTRT2_chr1_3016467_3027903	3016487	G G	GGGCGGGG others(184): Show GGGCGGGGTGGAGGAAGGGGAGAGGAAGGGAAAGAGGGAGGGAGGGGAGA GGAAGGGAATGAGGAGGGAGAAAGGAGAGAGGAAGGGAAGGAGGGATGGA GGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGAGGAGGAGGAAGGGAA GGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0000 a0001c0014t0002g0000	1	313	0.0032	191	c.-52 others(202): Show c.-5200_-5199insGGCGGGGTGGAGGAAGGGGAGAGGAAGGGAAAGA GGGAGGGAGGGGAGAGGAAGGGAATGAGGAGGGAGAAAGGAGAGAGGAAG GGAAGGAGGGATGGAGGAGGGAGGAAGGGAAGGAGAGAGGGACGGAGGGA GGAGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGG AAGGGAA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4979		chr1	TogoVar
ANAPC10_chr4_144989576_145103196	145039118	C C	CAGAGAAA others(184): Show CAGAGAAAAATAGGTCACATGCAAAGCATCAGAAATCAAAAGTGGCATTG TATTTCTCAACATTTACAATAAAAACAATGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGGCTAACTAAGGCAAAACCTATAAGAAGCAGGCA ACAAATTCAACAGATACTTCTGATGACGAGACATCACTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	334	0.0030	191	c.327 others(210): Show c.327+25453_327+25454insAGAAAGTGATGTCTCGTCATCAGAAG TATCTGTTGAATTTGTTGCCTGCTTCTTATAGGTTTTGCCTTAGTTAGCC TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACATTGTTTTTATTG TAAATGTTGAGAAATACAATGCCACTTTTGATTTCTGATGCTTTGCATGT GACCTATTTTTCTCT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(184): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTTCCTT CTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTCCTTCCCTTCCCTTCTT CCTTTCTTCCTTCCTTCCTTTCTTCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0042 a0001c0007t0007g0042	1	4	0.2500	191	c.252 others(212): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGAAGAAA GGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGGAAAGGAA AGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAGGAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAG AGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(184): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTTCCTT CTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTCCTTCCCTTCCCTTCTT CCTTTCTTCCTTCCTTCCTTTCTTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	4	0.2500	191	c.252 others(212): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGAAGGAAGAAA GGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGGAAAGGAA AGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAGGAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAG AGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ARHGDIG_chr16_275591_288010	285909	C C	CCCAACCC others(184): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	420	0.0024	191	c.30 others(202): Show c.3095_*3096insCCAACCCCAACCCCAACCCCAACCCCAACCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGG TTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAAC CCCAACA	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2900		chr16	TogoVar
ARID1B_chr6_156772378_157215779	157039775	A A	ACCTTCCT others(184): Show ACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCCTTTCTTTCC TTCCTTTCTTTCTTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTACC TTCCTACCTACCTACCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	138	0.0072	191	c.224 others(212): Show c.2248-44866_2248-44865insCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCCTTTCT TTCCTTCCTTTCTTTCTTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCC TACCTTCCTACCTACCTACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(184): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCGCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	72	0.0139	191	c.102 others(208): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCC TCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(184): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCCCCCGCCC CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	72	0.0139	191	c.102 others(208): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCC CCGCCCCTCCCCCCCCCGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198311	G G	GGAGGGGG others(184): Show GGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGGAGGGGGGACGGGGAGG AAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGGGGAGGGGA GGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGGAGGGGGACGGGGAGGG GGAGGGGGAGGGGGAGGGGAGATGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	147	0.0068	191	c.311 others(208): Show c.311-1323_311-1322insACCCCTCCCCTCCCCTCCCATCTCCCCT CCCCCTCCCCCTCCCCCTCCCCGTCCCCCTCCCCCGTCCCCCTCCCATCC CCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCT CTTCCCTCCCCCTTCCTCCCCGTCCCCCCTCCCCGTCTGCCCTCCCCCAT CTCCTTCCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATP11A_chr13_112685038_112892168	112804147	G G	GCCCTCCT others(184): Show GCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCC CCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTT CCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCCTTCC CTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0070 a0001c0006t0001g0070	1	179	0.0056	191	c.163 others(206): Show c.163-799_163-798insCTCCTTTTCCTCCTTTCTTCCCTTCCTTCC CTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTG CCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCC CTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTC CCCTCCTTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(184): Show ATATATATATAGTTTATATATATATACTATATATATAGTTTATATATATA TACTATATATATAGTATATATATATATATATAGTATATATATATACTATA TATATAGTTTATATATATATACTATATATATAGTATATATATATATACTA TATATATAGTTTATATATATATACTATATATATAGTTTATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	164	0.0061	191	c.331 others(210): Show c.3314-1170_3314-1169insATATAAACTATATATATAGTATATAT ATATAAACTATATATATAGTATATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATATACTATATATATATATATA TACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA TAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP6V0E1_chr5_172978771_173040445	173036014	A A	ATTTTTGT others(184): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	290	0.0034	191	c.16 others(202): Show c.1652_*1653insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAAT	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding		570		chr5	TogoVar
AXIN1_chr16_282440_357723	285909	C C	CCCAACCC others(184): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	360	0.0028	191	c.22 others(202): Show c.2212_*2213insTGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGG TTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTG GGGTTGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1530		chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	82970644	C C	CCAGCGTG others(184): Show CCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCC AGCGTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGC GTGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGTGT GGCCGTGACCTCCGCACCCAGTGTGGCTGTGACCTCTGCACA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03942.hp1 HG03669.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0086 a0001c0002t0002g0075 a0001c0002t0002g0086	2	261	0.0077	191	c.460 others(208): Show c.460-4899_460-4898insTGTGCAGAGGTCACAGCCACACTGGGTG CGGAGGTCACGGCCACACTGGGTGCGGAGGTCACGGCCACGCTGGGTGGG GAGGTCGCGGCCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGA GGTCAGTCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGGGGAGGT CGCGGCCACGCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970645	C C	CAGCGTGG others(184): Show CAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCA GCGTGGACTGACCTCCGCACCCAGCGTGGCCGCGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGTGTG GCCGTGACCTCCGCACCCAGTGTGGCTGTGACCTCTGCACAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19070.hp2 HG00558.hp1 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0202 a0001c0003t0004g0219 a0001c0003t0004g0202 a0001c0003t0004g0219	2	207	0.0097	191	c.460 others(208): Show c.460-4900_460-4899insATGTGCAGAGGTCACAGCCACACTGGGT GCGGAGGTCACGGCCACACTGGGTGCGGAGGTCACGGCCACGCTGGGTGG GGAGGTCGCGGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGG AGGTCAGTCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGGGGAGG TCGCGGCCACGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970645	C C	CAGCGTGG others(184): Show CAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCA GCGTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGTGTG GCCGTGACCTCCGCACCCAGTGTGGCTGTGACCTCTGCACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(48): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01346.hp1 HG01361.hp2 HG01934.hp1 HG01981.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02683.hp2 HG02886.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18944.hp2 NA18951.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18983.hp1 NA19002.hp2 NA19012.hp1 NA19062.hp2 NA19064.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005 a0002c0009 a0003c0023 a0005c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0002t0002 a0001c0002t0008 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0006t0002 a0001c0006t0008 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0003c0023t0011 a0005c0028t0002	a0001c0001t0001g0062 a0001c0001t0001g0178 a0001c0001t0002g0155 others(48): Show a0001c0001t0001g0062 a0001c0001t0001g0178 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0004g0229 a0001c0001t0004g0241 a0001c0001t0004g0247 a0001c0001t0022g0233 a0001c0001t0022g0243 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0102 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0131 a0001c0002t0008g0070 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0109 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0025g0095 a0001c0002t0028g0121 a0001c0002t0029g0074 a0001c0003t0004g0187 a0001c0003t0004g0197 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0008g0021 a0002c0005t0003g0054 a0002c0005t0007g0231 a0002c0009t0003g0079 a0002c0009t0013g0067 a0003c0023t0011g0020 a0005c0028t0002g0107	51	256	0.1992	191	c.460 others(208): Show c.460-4900_460-4899insATGTGCAGAGGTCACAGCCACACTGGGT GCGGAGGTCACGGCCACACTGGGTGCGGAGGTCACGGCCACGCTGGGTGG GGAGGTCGCGGCCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGG AGGTCAGTCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGGGGAGG TCGCGGCCACGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026624	G G	GAGGAAAG others(184): Show GAGGAAAGGGAGCCTGCAGACAAACCCACCACCGACCGATACACAGAGGA GGGCAGGGAGCCTGCATACAAACCCACCACCGACCGATACACAGAGGAGG GCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCGGGGC AGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0017 a0001c0006t0018g0017	1	258	0.0039	191	c.297 others(208): Show c.297+8410_297+8411insGCTCTGTGTGTCTGTCGAGGGTGGGTTT GTCTGCAGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTA TGCAGGCTCCCTGCCCTCCTCTGTGTATCGGTCGGTGGTGGGTTTGTATG CAGGCTCCCTGCCCTCCTCTGTGTATCGGTCGGTGGTGGGTTTGTCTGCA GGCTCCCTTTCCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374861	G G	GAGGGAGG others(184): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	118	0.0085	191	c.784 others(206): Show c.784-593_784-592insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(184): Show GAGGGAGGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0175 a0006c0007t0001g0175	1	144	0.0069	191	c.784 others(206): Show c.784-514_784-513insGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(184): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGTCCCTGTCTCCTTCCCT CCGCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCC TGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCC CCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0166 a0001c0001t0017g0166	1	207	0.0048	191	c.19 others(202): Show c.1976_*1977insAGAGATGGGGGGCGGAGGGAAGGAGACAGGGACC GAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGA AGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGG TGGGGCGGAGGGAAGGAGACAGGGACGAGGTGGGGGCGGAGGGAAGGAGA CAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(184): Show ATAGGGCCGGAGGCGGGGTGTGTACGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGCGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGTGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0135 a0002c0135	a0002c0135t0040 a0002c0135t0040	a0002c0135t0040g0282 a0002c0135t0040g0282	1	103	0.0097	191	c.300 others(208): Show c.300-9309_300-9308insCCGGAGGCGGGGTGTGTACGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGC GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(184): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0013 a0009c0016t0013	a0009c0016t0013g0245 a0009c0016t0013g0245	1	103	0.0097	191	c.300 others(208): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGAC GGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar

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