Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ENTPD8_chr9_137429364_137446357	137436339	G G	GGCCGGAT others(201): Show GGCCGGATGACCCACGCCAGCCCCGCGCCCATACCCTGTGCGCCCTCCCC GGTGCCGGATGACCCACGCCAGCCCCGCGCCCATACCCTGTGCCCCCTCC CCGGTGCCGGATGACCCACGCCAGCCCCGCGCCCATACCCTGTGCCCCCT CCCCGGTGCCGGATGACCCACGCCAGCCCCGCGCCCATACCCTGTGCCCC CTCCCCGGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	392	0.0026	208	c.787 others(221): Show c.787-64_787-63insACCGGGGAGGGGGCACAGGGTATGGGCGCGGG GCTGGCGTGGGTCATCCGGCACCGGGGAGGGGGCACAGGGTATGGGCGCG GGGCTGGCGTGGGTCATCCGGCACCGGGGAGGGGGCACAGGGTATGGGCG CGGGGCTGGCGTGGGTCATCCGGCACCGGGGAGGGCGCACAGGGTATGGG CGCGGGGCTGGCGTGGGTCATCCGGC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	6/9			chr9	TogoVar
ERICH1_chr8_659200_736224	700479	G G	GGCGCACA others(201): Show GGCGCACAGACCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCG CACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGG CCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCA CAGGCCCGCACACGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGG CCCGCACAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0329 a0001c0002t0002g0329	1	378	0.0027	208	c.170 others(225): Show c.170-7868_170-7867insGTGTGCGGGCCTGTGCGGGCCTGTGCGC GTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGT GCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGC CTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCGCCTGTGC GGGCCTGTGCGCGTGTGCGGGTCTGTGCGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700479	G G	GGCGCACA others(201): Show GGCGCACAGACCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCG CACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGG CCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCA CAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGG CCCGCACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG04204.hp1 HG01070.hp2 HG01071.hp1 HG04204.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0250 a0004c0006t0002g0251 a0004c0006t0002g0325 a0004c0006t0002g0250 a0004c0006t0002g0251 a0004c0006t0002g0325	3	378	0.0079	208	c.170 others(225): Show c.170-7868_170-7867insGTGTGCGGGCCTGTGCGGGCCTGTGCGC GTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGT GCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGC CTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCGCCTGTGC GGGCCTGTGCGCGTGTGCGGGTCTGTGCGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700479	G G	GGCGCACA others(201): Show GGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCG CACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGG CCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCA CAGGCCCGCACACGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGG CCCGCACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0324 a0001c0002t0002g0324	1	378	0.0027	208	c.170 others(225): Show c.170-7868_170-7867insGTGTGCGGGCCTGTGCGGGCCTGTGCGC GTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGT GCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGC CTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCGCCTGTGC GGGCCTGTGCGCGTGTGCGGGCCTGTGCGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700480	G G	GCGCACAG others(201): Show GCGCACAGACCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCGC ACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGC CCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACACGCGCAC AGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACACGC GCACAGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00639.hp2 others(6): Show HG00140.hp1 HG00280.hp1 HG00639.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG02602.hp2 HG03710.hp1 HG03710.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0012c0017 a0001c0002 a0012c0017	a0001c0002t0001 a0001c0002t0002 a0012c0017t0002 a0001c0002t0001 a0001c0002t0002 a0012c0017t0002	a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 others(6): Show a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0002g0298 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0346 a0012c0017t0002g0366	9	378	0.0238	208	c.170 others(225): Show c.170-7869_170-7868insGGCCTGTGCGCGTGTGCGGGCCTGTGCG CGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGCCTG TGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGG CCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGTCTGTGCGCCTGTG CGGGCCTGTGCGCGTGTGCGGGTCTGTGCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ESF1_chr20_13709325_13789919	13733099	C C	CATTTTTT others(201): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	390	0.0026	208	c.195 others(225): Show c.1950+621_1950+622insACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	10/13			chr20	TogoVar
EXD3_chr9_137301896_137428162	137382015	A A	ACGCGGGG others(201): Show ACGCGGGGAGGAGGTGAGGGCGCGCGGAGGAGGTGAGGGCGCGCGGAGGA GGTGAGGGCGCGGGGAGGAGGTGAGGGCGCGCGGAGGAGGTGAGGGCGCG CGGTGGAGGTCAGGGCGGCGGTGGAGGTGAGGGCGCGGGGAGGAGGTGAG GGCGCGGGGAGGAGGTGGGAGCATGCGGAGGAGGTGAGGGCGCGCGGAGG AGGTGAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03098.hp2 HG03017.hp1 HG03098.hp2	a0008 a0020 a0008 a0020	a0008c0013 a0020c0014 a0008c0013 a0020c0014	a0008c0013t0001 a0020c0014t0001 a0008c0013t0001 a0020c0014t0001	a0008c0013t0001g0039 a0020c0014t0001g0074 a0008c0013t0001g0039 a0020c0014t0001g0074	2	82	0.0244	208	c.120 others(225): Show c.120+1297_120+1298insCCCTCACCTCCTCCGCGCGCCCTCACCT CCTCCGCATGCTCCCACCTCCTCCCCGCGCCCTCACCTCCTCCCCGCGCC CTCACCTCCACCGCCGCCCTGACCTCCACCGCGCGCCCTCACCTCCTCCG CGCGCCCTCACCTCCTCCCCGCGCCCTCACCTCCTCCGCGCGCCCTCACC TCCTCCGCGCGCCCTCACCTCCTCCCCGCG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(201): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCC CCTCCCTGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCC CGCCCCCCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCT TCTGCCCCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCT CCCCCTCCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0012 a0001c0001t0021g0012	1	218	0.0046	208	c.-23 others(227): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCC GCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTTCCCCC TCTGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCGCTGCTCCC TCCCCCTCCATCCCTTCCCCCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FGD2_chr6_37000655_37034069	37012986	G G	GTGTATAC others(201): Show GTGTATACATATATATACGTATATATACACGTATATATACGTATATATAT ACGTGTATATATGTATATATACGTGTATATACACGTATATATACGTGTAT ATACACGTATATATACGTGTATATACACGTATATATACGTGTATATACAC GTATATATACGTGTATATACACGTATATATACGTGTATATACACGTATAT ATACGTGTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03486.hp2 HG00609.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0024 a0002c0004 a0002c0024	a0002c0004t0001 a0002c0024t0002 a0002c0004t0001 a0002c0024t0002	a0002c0004t0001g0137 a0002c0024t0002g0138 a0002c0004t0001g0137 a0002c0024t0002g0138	2	430	0.0047	208	c.528 others(223): Show c.528-622_528-621insGTATACATATATATACGTATATATACACGT ATATATACGTATATATATACGTGTATATATGTATATATACGTGTATATAC ACGTATATATACGTGTATATACACGTATATATACGTGTATATACACGTAT ATATACGTGTATATACACGTATATATACGTGTATATACACGTATATATAC GTGTATATACACGTATATATACGTGTAT	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
FGL1_chr8_17859389_17900524	17883105	A A	AATATAGA others(201): Show AATATAGAATATATATCATATATAATATATTAAATATAGAATATATATCA TATATAATATATTAAATATATAATATATATCATATATAATATATTAAATA AGATATAATATATATCATATATAATATATTAAATAATATATAATATATAT CATATATAATATATTAAATAATATATAATATATATCATATATAATATATT AAATAATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02976.hp1 NA19043.hp2 HG02896.hp2 HG02976.hp1 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0299 a0003c0003t0001g0306 a0003c0003t0001g0308 a0003c0003t0001g0299 a0003c0003t0001g0306 a0003c0003t0001g0308	3	366	0.0082	208	c.64- others(221): Show c.64-927_64-926insATATTATTTAATATATTATATATGATATATAT TATATATTATTTAATATATTATATATGATATATATTATATATTATTTAAT ATATTATATATGATATATATTATATCTTATTTAATATATTATATATGATA TATATTATATATTTAATATATTATATATGATATATATTCTATATTTAATA TATTATATATGATATATATTCTATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FGL1_chr8_17859389_17900524	17883105	A A	AATATAGA others(201): Show AATATAGAATATATATCATATATAATATATTAAATATAGAATATATATCA TATATAATATATTAAATATATAATATATATCATATATAATATATTAAATA ATATATAATATATATCATATATAATATATTAAATAATATATAATATATAT CATATATAATATATTAAATAATATATAATATATATCATATATAATATATT AAATAATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02895.hp2 others(4): Show HG02145.hp1 HG02615.hp2 HG02895.hp2 HG03579.hp1 NA18522.hp1 NA18982.hp2 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0275 a0003c0003t0001g0278 a0003c0003t0001g0287 others(4): Show a0003c0003t0001g0275 a0003c0003t0001g0278 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0313	7	366	0.0191	208	c.64- others(221): Show c.64-927_64-926insATATTATTTAATATATTATATATGATATATAT TATATATTATTTAATATATTATATATGATATATATTATATATTATTTAAT ATATTATATATGATATATATTATATATTATTTAATATATTATATATGATA TATATTATATATTTAATATATTATATATGATATATATTCTATATTTAATA TATTATATATGATATATATTCTATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FGL1_chr8_17859389_17900524	17883105	A A	AATATAGA others(201): Show AATATAGAATATATATCATATATAATATATTAAATATATAATATATATCA TATATAATATATTAAATATATAATATATATCATATATAATATATTAAATA ATATATAATATATATCATATATAATATATTAAATAATATATAATATATAT CATATATAATATATTAAATAATATATAATATATATCATATATAATATATT AAATAATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0281 a0003c0003t0001g0281	1	366	0.0027	208	c.64- others(221): Show c.64-927_64-926insATATTATTTAATATATTATATATGATATATAT TATATATTATTTAATATATTATATATGATATATATTATATATTATTTAAT ATATTATATATGATATATATTATATATTATTTAATATATTATATATGATA TATATTATATATTTAATATATTATATATGATATATATTATATATTTAATA TATTATATATGATATATATTCTATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FGL1_chr8_17859389_17900524	17883105	A A	AATATATA others(201): Show AATATATAATATATATCATATGTAATATATTAAATATATAATATATATCA TATGTAATATATTAAATATATAATATATATCATATATAATATATTAAATA ATATATAATATATATCGTATATAATATATTAAATAATATATAATATATAT CGTATATAATATATTAAATAATATATAATATATATCATATATAATATATT AAATAATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp1 HG03239.hp1 HG00733.hp1 HG01361.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0243 a0001c0001t0001g0026 a0001c0001t0001g0243	3	366	0.0082	208	c.64- others(221): Show c.64-927_64-926insATATTATTTAATATATTATATATGATATATAT TATATATTATTTAATATATTATATACGATATATATTATATATTATTTAAT ATATTATATACGATATATATTATATATTATTTAATATATTATATATGATA TATATTATATATTTAATATATTACATATGATATATATTATATATTTAATA TATTACATATGATATATATTATATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FLT3_chr13_27998274_28105576	27998923	T T	TTATATGC others(201): Show TTATATGCATATAAATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATAAATATATATGTATATACATATATATATGTATATACATAT ATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	292	0.0034	208	c.51 others(219): Show c.5128_*5129insCATATATATATATGTATATACATATATATATGTA TATACATATATATTTATATGTATATACATATATATATGTATATACATATA TATTTATATGTATATACATATATATTTATATGTATATACATATATTTATA TGTATATACATATATATTTATATGTATATAAATATATATTTATATGCATA TAAATATATATTTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4350		chr13	TogoVar
FLT4_chr5_180596506_180654600	180615442	G G	GGCCTGCC others(201): Show GGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGG AGCACTGGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACT TCCTTTAGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTT TTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGA GCACTGGGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	388	0.0026	208	c.321 others(225): Show c.3219+924_3219+925insGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAG GTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAGTGGA GAAGGGAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTC GGAAGTGGAGAAGGGAGGTGACCGGCAGGC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXP1_chr3_70949708_71588728	71396962	A A	ATACACAC others(201): Show ATACACACACATATATATGTGTATATATATATACACACATATATATATGT GTATATATATATACACATATATATATGTGTGTATATATATATATACACAT ATATGTGTGTGTATATATATATACACATATATATGTGTATATATATATAC ATATATATGTGTATATATACATACACATATATATGTGTATATATATACAC ATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0008 a0001c0001t0077g0008	1	96	0.0104	208	c.-16 others(229): Show c.-167-37719_-167-37718insCATATATATGTGTATATATATACA CATATATATGTGTATGTATATATACACATATATATGTATATATATATACA CATATATATGTGTATATATATATACACACACATATATGTGTATATATATA TATACACACATATATATATGTGTATATATATATACACATATATATATGTG TGTATATATATATACACATATATATGTGTGTGTA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAD2_chr10_26211774_26309558	26303448	G G	GAGGGAGG others(201): Show GAGGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAATGA AGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAGGAAGGAAGGAAA TGAAGGGAGGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAAGGAAGGAAGG AAATGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAGGAAGGA AGGAAATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG01168.hp1 others(14): Show HG00544.hp2 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG02004.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp2 HG03831.hp1 NA18960.hp2 NA18965.hp1 NA18988.hp1 NA19074.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0030 a0001c0002t0004 a0001c0002t0030	a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0031 others(12): Show a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0031 a0001c0002t0004g0115 a0001c0002t0004g0116 a0001c0002t0004g0118 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0239 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0030g0114	17	294	0.0578	208	c.24 others(219): Show c.2498_*2499insAAGGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAA ATGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAGGAAGGAAG GAAATGAAGGGAGGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAAGGAAGG AAGGAAATGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAGGA AGGAAGGAAATGAAGGGAGGGAGG	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	16/16	2499	INFO_REALIGN_3_PRIME	chr10	TogoVar
GALNT13_chr2_153866922_154458979	154298773	T T	TATACAAT others(201): Show TATACAATGTATATATAAATTATATATACATTGTATATATAATTTATATA TACATTGTATATATAATTTATATATAAATTGTATATACAATGTATATATA AATTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAA TTGTATATACAATGTATATATAAATTGTATATATAATTTATATATACATT GTATATACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0071 a0001c0001t0074g0071	1	214	0.0047	208	c.976 others(225): Show c.976-2634_976-2633insACAATGTATATATAAATTATATATACAT TGTATATATAATTTATATATACATTGTATATATAATTTATATATAAATTG TATATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTA TATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTATA TATAATTTATATATACATTGTATATACAAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132303523	A A	ACCCAGAC others(201): Show ACCCAGACACACCCTCACCTGGGCACACCCTCACCCGGGCACAGCCTCGC CCGGGCACACGCTCACCCAGACACACCCTCGCCTGGGCACACCCTCGCCC GGGCACACCCTCACCCGGGCACACCCTCACCCGGGCACAGCCTCGCCCAG GCACAGCCTCGCCCGGGCACACCCTCGCCCGGACACACCCTCACCCGGGC ACACCCTCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0180 a0001c0012t0002g0180	1	183	0.0055	208	c.239 others(227): Show c.239-17094_239-17093insCGAGGGTGTGCCCGGGTGAGGGTGTG TCCGGGCGAGGGTGTGCCCGGGCGAGGCTGTGCCTGGGCGAGGCTGTGCC CGGGTGAGGGTGTGCCCGGGTGAGGGTGTGCCCGGGCGAGGGTGTGCCCA GGCGAGGGTGTGTCTGGGTGAGCGTGTGCCCGGGCGAGGCTGTGCCCGGG TGAGGGTGTGCCCAGGTGAGGGTGTGTCTGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GATA5_chr20_62458497_62480995	62476946	T T	TTTCTTTC others(201): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTTCTTTCTTTCTTTTCTTTCTTCTTTCTTTCTTTCTTT CTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0291 a0001c0007t0001g0291	1	382	0.0026	208	c.-10 others(219): Show c.-1039_-1038insGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAA AAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		952		chr20	TogoVar
GCNT2_chr6_10516351_10634368	10606603	C C	CTTCCATT others(201): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAA TGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTT AATGGAAAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0064 a0001c0001t0021g0064	1	324	0.0031	208	c.926 others(227): Show c.926-14676_926-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATT TAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAA TTTAATGGAAATTTCCATTAAAGAAATTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10606603	C C	CTTCCATT others(201): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAA TGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTT AATGGAAAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0270 a0002c0003t0010g0270	1	344	0.0029	208	c.920 others(227): Show c.920-14676_920-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATT TAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAA TTTAATGGAAATTTCCATTAAAGAAATTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFPT2_chr5_180295698_180358336	180300121	T T	TGGTGGAT others(201): Show TGGTGGATAACTGGAAATGTAGCTCCCAGGTTTCCAGCCCGTGATACAGG TGAGGGCATAGGACAGGATGGTGGATAACTGGAAATGTAGCTCCCAGGTT TCCAGCCCCTGTGATACAGGTGAGGGCATAGGACAGGATGGTGGATAACT GGAAATGTAGCTCCCAGGTTTCCAGCCCCTGTGATACAGGTGAGGGCATA GGACAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18966.hp1 NA18985.hp1 others(5): Show NA18940.hp1 NA18966.hp1 NA18985.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0010 a0001c0003t0002 a0001c0003t0010	a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0267 others(3): Show a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0267 a0001c0003t0002g0316 a0001c0003t0002g0329 a0001c0003t0010g0028	8	412	0.0194	208	c.14 others(219): Show c.1442_*1443insTTCCTGTCCTATGCCCTCACCTGTATCACAGGGG CTGGAAACCTGGGAGCTACATTTCCAGTTATCCACCATCCTGTCCTATGC CCTCACCTGTATCACAGGGGCTGGAAACCTGGGAGCTACATTTCCAGTTA TCCACCATCCTGTCCTATGCCCTCACCTGTATCACGGGCTGGAAACCTGG GAGCTACATTTCCAGTTATCCACC	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		576		chr5	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATAATATA others(201): Show ATAATATATATATGTATATATATATATACATATATATGTATATATATATA TAATATATATATGTATATATATATATAATATATATATGTATATATATATA ATATATATATGTATATATATATATAATATATATATGTATATATATATAAT ATATATATGTATATATATATATATAATATATATATGTATATATATATATA TATTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	342	0.0029	208	c.335 others(225): Show c.335-9639_335-9638insAAAAAAATATATATATATATATACATAT ATATATTATATATATATATATACATATATATATTATATATATATACATAT ATATATTATATATATATATACATATATATATTATATATATATACATATAT ATATTATATATATATATACATATATATATTATATATATATATACATATAT ATGTATATATATATATACATATATATATTA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GPER1_chr7_1083113_1098810	1089920	T T	TAAAAATA others(201): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	446	0.0022	208	c.-32 others(227): Show c.-322-1480_-322-1479insCAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA	GPER1	ENSG00000164850.16	transcript	ENST00000397088.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TGTTCATA others(201): Show TGTTCATATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTATG TTCATATATATATGTACATATATATGTTCATATATGTATGTTCATATATA TATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	234	0.0043	208	c.143 others(225): Show c.143+2184_143+2185insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTC	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TGTTCATA others(201): Show TGTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACA TATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTT CATATATGTATGTTCATATATATATGAACATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATA TATATGTTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	234	0.0043	208	c.143 others(225): Show c.143+2184_143+2185insGTTCATATATATATGTTCATATATATGT ATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATAT ATATATGTACATATATATGTTCATATATGTATGTTCATATATATATGAAC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATATGTTCATATATATATGTTC	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPR137B_chr1_236137539_236213907	236186228	A A	ATATAATA others(201): Show ATATAATAATATAAATAATATATAAATATATATTATATATAATAATATAA ATAATATATAATATATATTATATATAATAATATAAATAATATATAATATA ATTATATATAATAATATAAAATAATATATAATATATATTATATATAATAA TATAAATAATATATAATATATATTATATATAATAATATAAATAATATATA ATATATATT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	386	0.0026	208	c.966 others(225): Show c.966+2322_966+2323insTATAATAATATAAATAATATATAAATAT ATATTATATATAATAATATAAATAATATATAATATATATTATATATAATA ATATAAATAATATATAATATAATTATATATAATAATATAAAATAATATAT AATATATATTATATATAATAATATAAATAATATATAATATATATTATATA TAATAATATAAATAATATATAATATATATT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074265	C C	CATATATA others(201): Show CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATGTACATGTATATTTATTCATATATAAATATATATAAATGTA CATGTATATTTATTCATATATAAATATATATAAATGTACATGTATATTTA TTCATATATAAATATACATTTACATATAAATATATATAAATATACATTTA CATATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 NA19043.hp1 HG01884.hp2 HG02809.hp2 NA19043.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0018 a0001c0001 a0012c0018	a0001c0001t0013 a0012c0018t0013 a0001c0001t0013 a0012c0018t0013	a0001c0001t0013g0062 a0001c0001t0013g0065 a0012c0018t0013g0061 a0001c0001t0013g0062 a0001c0001t0013g0065 a0012c0018t0013g0061	3	208	0.0144	208	c.-97 others(225): Show c.-97-2247_-97-2246insTATAAATATACATGTATATTTATTCATA TATAAATATATATAAATGTACATGTATATTTATTCATATATAAATATATA TAAATGTACATGTATATTTATTCATATATAAATATATATAAATGTACATG TATATTTATTCATATATAAATATACATTTACATATAAATATATATAAATA TACATTTACATATAAATATATATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR180_chr13_94596857_94639661	94597249	C C	CGCTGATG others(201): Show CGCTGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGC GTCCACCAATGGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGC TAGGAATACAGTCCTAGCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0151 a0004c0006t0003g0151	1	344	0.0029	208	c.-46 others(219): Show c.-4679_-4678insGCTGATGTCTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATC ACGGCTCACTGCAGCGTCCACCAATGGGGCTCAAGCAATCCTCCCACCTC AGCCTCCTGAGTAGCTAGGAATACAGTCCTAGCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTA	GPR180	ENSG00000152749.8	transcript	ENST00000376958.5	protein_coding		4607		chr13	TogoVar
GPR35_chr2_240620480_240638159	240626077	G G	GGGTGAGG others(201): Show GGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGG TCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTG TGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGG GTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTC TCAGAGCGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	400	0.0025	208	c.-5+ others(221): Show c.-5+527_-5+528insGTTCTCAGAGCGAGGTGAGGCTGTGACGGGGT CTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGT GATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGG TGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCT CAGAGCGAGGTGAGGCTGTGACGGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(201): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03669.hp1 HG04115.hp1 others(1): Show HG02698.hp1 HG03669.hp1 HG04115.hp1 NA18970.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0045	a0001c0001 a0003c0003 a0005c0002 others(1): Show a0001c0001 a0003c0003 a0005c0002 a0045c0090	a0001c0001t0030 a0003c0003t0001 a0005c0002t0013 others(1): Show a0001c0001t0030 a0003c0003t0001 a0005c0002t0013 a0045c0090t0013	a0001c0001t0030g0087 a0003c0003t0001g0267 a0005c0002t0013g0187 others(1): Show a0001c0001t0030g0087 a0003c0003t0001g0267 a0005c0002t0013g0187 a0045c0090t0013g0243	4	308	0.0130	208	c.341 others(223): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618200	G G	GACTCCTG others(201): Show GACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGCC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	308	0.0033	208	c.341 others(223): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGCCACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346042	G G	GGCCGAGA others(201): Show GGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGA GGACCTCTGTGCCTGACAGTGGACCCGGGAGGATCTCTGTGGCTGAGAGC AGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGT GGCTGAGCGGATCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGG ACCTCTGAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01361.hp1 others(1): Show HG01070.hp2 HG01071.hp1 HG01361.hp1 HG03834.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0059 a0001c0001t0001g0114 a0005c0007t0001g0124 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0114 a0005c0007t0001g0124 a0005c0007t0001g0125	4	288	0.0139	208	c.466 others(225): Show c.466-1084_466-1083insTTCAGAGGTCCTCCCGGGTCTGCTCTCT GCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAGAGGTCCTCCCAGGTC TGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTCTCAGCCACAGAGATC CTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGCTCTTGTC CACAGAGGTCCTCCTGGGTCTGTTCTCGGC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346052	A A	AGACCCAG others(201): Show AGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGT GCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGA GGATCTCTGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGCTGAGCGG ATCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGC CTGACAGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	288	0.0035	208	c.466 others(225): Show c.466-1094_466-1093insCACTGTCAGGCACAGAGGTCCTCCTGGG TCTGCTCTTTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAGAGGTG CTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTCTCAGC CACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTC TGCTCTTGTCCACAGAGGTCCTCCTGGGTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346057	C C	CAGGAGGA others(201): Show CAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGCTG ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATC TCTGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCG GGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG01993.hp2 others(5): Show HG00544.hp1 HG00733.hp2 HG01993.hp2 NA18983.hp2 NA19007.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0250	8	288	0.0278	208	c.466 others(225): Show c.466-1099_466-1098insAGGTCCGCTCTCAGCCACAGAGGTCCTC CCGGGTCTGCTCTCTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAG AGGTGCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTC TCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCC GGGTCTGCTCTTGTCCACAGAGGTCCTCCT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346057	C C	CAGGAGGA others(201): Show CAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGCTG ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATC TCTGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGCTGAGTGGATCCG GGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	288	0.0035	208	c.466 others(225): Show c.466-1099_466-1098insAGGTCCGCTCTCAGCCACAGAGGTCCTC CCGGGTCTGCTCTCTGCCACAGAGGTCCTCCCGGATCCACTCAGCCACAG AGGTGCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTC TCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCC GGGTCTGCTCTTGTCCACAGAGGTCCTCCT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346057	C C	CAGGAGGA others(201): Show CAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGCTG ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATC TCTGTGGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCCG GGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	288	0.0035	208	c.466 others(225): Show c.466-1099_466-1098insAGGTCCGCTCTCAGCCACAGAGGTCCTC CCGGGTCTGCTCTCTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAG AGGTCCTCCCGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTC TCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCC GGGTCTGCTCTTGTCCACAGAGGTCCTCCT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346499	C C	CCTGGGAG others(201): Show CCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC CGAGAGCGGACCTGGGAGGACCTCTGTGGCAGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGA CCCAGGAGGATCTCTGTGGCAGAGAGCAGACCCAGGAGCACCTCTGTGGC TGAGCGGAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03239.hp2 NA18954.hp2 HG01975.hp1 HG03239.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0217	3	288	0.0104	208	c.466 others(225): Show c.466-1541_466-1540insATCCGCTCAGCCACAGAGGTGCTCCTGG GTCTGCTCTCTGCCACAGAGATCCTCCTGGGTCTGCTCTCAGCCACAGAG GTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCAGGTCCGCTCTC TGCCACAGAGGTCCTCCCAGGTCCGCTCTCGGCCACAGAGGTCCTCCCGG GTCTGCTCTCTGCCACAGAGGTCCTCCCAG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346759	A A	ACAGTGGA others(201): Show ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCAGGAGGACC TCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCCG AGAGCAGACCTGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGCACC TCTGTGGCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	288	0.0035	208	c.466 others(225): Show c.466-1801_466-1800insAGCCACAGAGGTGCTCCTGGGTCCGCTC TCGGCCACAGAGGTCCTCCCAGGTCTGCTCTCGGCCACAGAGGTCCTCCC GGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAG AGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCTGGGTCTGTTC TCAGCCACAGAGGTCCTCCCGGGTCCACTG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346865	G G	GACCTCTG others(201): Show GACCTCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGTGGCCGAGAGCA GACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTG GCTGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGA CCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGA CCCAGGAGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19074.hp1 NA18747.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0104 a0001c0001t0008g0286 a0001c0001t0001g0104 a0001c0001t0008g0286	2	288	0.0069	208	c.466 others(225): Show c.466-1907_466-1906insGCTCCTGGGTCTGCTCTCAGCCACAGAG GTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGGTCTGTTCTC AGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCCGGGT CCGCTCTCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGT CCTCCCGGATCTGTTCTCGGCCACAGAGGT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(201): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGCTGGGGGCGGGGAGGACTTG GGGACAGAGGAGGGGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACC CAGGGCGGGGGAGGGGGCGGGGCTGGGGGCGGGAGGACCTGGGGAGAGAG GAGGGGCGGGGGAGGGGGAGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGG GGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0004 a0004c0003t0002g0004	1	288	0.0035	208	c.-39 others(217): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCC CGCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCC CCTCCCCCGCTCCTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
HELZ2_chr20_63553086_63579239	63566596	A A	ACCCCCAC others(201): Show ACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCA CCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAACGCAGGA CGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAG CTCGGGGATGAGCGCAGGGCGCAGTGAGGACTGGGCCACCCCCGACAAGG AGACGGCAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0032 a0032	a0032c0038 a0032c0038	a0032c0038t0025 a0032c0038t0025	a0032c0038t0025g0062 a0032c0038t0025g0062	1	390	0.0026	208	c.251 others(225): Show c.2515-144_2515-143insGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HRAS_chr11_527242_540576	530578	G G	GAGAAGGG others(201): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCG AGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGT CCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01074.hp1 others(22): Show HG00280.hp1 HG00323.hp2 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01516.hp1 HG02015.hp2 HG03688.hp2 HG04204.hp2 NA18951.hp2 NA18964.hp1 NA18967.hp2 NA18978.hp1 NA18984.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19074.hp2 NA19086.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0003 a0001c0002t0001g0026 a0001c0002t0001g0027	25	397	0.0630	208	c.19 others(219): Show c.1949_*1950insGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAG GGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTGGC CCTTCTCTCCAGGGGACGCCACACTCGACGCCACACTCCCCCTTCTGTCC AGGGGACGCCACACTCGCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1663		chr11	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCT others(201): Show TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTC CTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCT TCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	350	0.0029	208	c.485 others(225): Show c.485+4053_485+4054insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCC TCCCTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(201): Show GCGCCGCCGCGCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCC TCCCCGCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	330	0.0030	208	c.124 others(223): Show c.1249-57_1249-56insGCCGCCGCGCCGCGCCGCCTCCCCGCGCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCC CGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322332	A A	AATATATA others(201): Show AATATATATATGCAATATATATATATGGAATATATATATGCAGTATATAT ATATGAATATATATATGGAATATATATGGAATATATATATGGAATATATA TGTGGAATATATATATGGAATATATATGTGGAATATATATATGGAATATA TATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATAT ATGGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	208	c.-27 others(219): Show c.-2724_-2723insATATATATATGCAATATATATATATGGAATATAT ATATGCAGTATATATATATGAATATATATATGGAATATATATGGAATATA TATATGGAATATATATGTGGAATATATATATGGAATATATATGTGGAATA TATATATGGAATATATATATATGTGGAATATATATATGGAATATATATAT ATGTGGAATATATATATGGAATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2637		chr21	TogoVar
ILRUN_chr6_34582288_34701767	34687712	T T	TATATATA others(201): Show TATATATATATATATATATTTATAAAATATATATATATATTTATAAAATA TATATATATATTTATAAAATATATATATATATTTATAAAATATATATATA TATTTATAAAATATATATATATTTATAAAATATATATATATTTATAAAAT ATATATATATTTATAAAATATATATATATATTTATAAAATATATATATAT ATTTATAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0313 a0001c0001t0013g0313	1	316	0.0032	208	c.158 others(225): Show c.158+8733_158+8734insTTTATAAATATATATATATATTTTATAA ATATATATATATATTTTATAAATATATATATATTTTATAAATATATATAT ATTTTATAAATATATATATATTTTATAAATATATATATATATTTTATAAA TATATATATATATTTTATAAATATATATATATATTTTATAAATATATATA TATATTTTATAAATATATATATATATATAT	ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4			chr6	TogoVar
INPP5D_chr2_233055342_233212903	233137886	A A	ATACACAT others(201): Show ATACACATATATATGTGTATATATATATATACATATATGTGTATATATAT ATATACACATATATGTGTATATATATACACATATATATGTATATATATAT ACACATATATGTGTATATATATACACATATATATGTATATATATATACAC ATATATGTGTATATATATACACATATATATGTATATATATATACACATAT ATATATGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0296 a0001c0006t0002g0296	1	310	0.0032	208	c.666 others(225): Show c.666-1954_666-1953insCACATATATATGTGTATATATATATATA CATATATGTGTATATATATATATACACATATATGTGTATATATATACACA TATATATGTATATATATATACACATATATGTGTATATATATACACATATA TATGTATATATATATACACATATATGTGTATATATATACACATATATATG TATATATATATACACATATATATATGTGTA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5E_chr9_136423619_136444845	136431599	C C	CCCCCCCA others(201): Show CCCCCCCAGGCCCTCACCTCTCCTCATCTCCCGCCACGCCCGCCCCCCCA GGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCA CCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCT CATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCT CCACGCCCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	382	0.0026	208	c.154 others(225): Show c.1549+224_1549+225insCGGGCGTGGAGGGAGATGAGGAGAGGTG AGGGCCTGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGG GGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGG GCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTGGGGGGGCGGGCGTGGCG GGAGATGAGGAGAGGTGAGGGCCTGGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar

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Search Results (Total: 10000 hits)