Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
ABR_chr17_998519_1184981	1064003	T T	TTATGCAT others(247): Show TTATGCATGTTCCTCTAGACACTGTTGTTACGTGAAGTGAGGGCTATACA TGTTCCTCTAGACACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCT CTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACA CTGTTATGTGAACTGAGGCTATGCATGTTCCTCTAGACACTGTTGTTACG TGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTATTATGTGAACTG AGGGC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0115 a0001c0001t0074g0115	1	337	0.0030	254	c.118 others(273): Show c.1182+3073_1182+3074insGCCCTCAGTTCACATAATAGCAGTGT CTAGAGGAACATGTATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGG AACATGCATAGCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAG CCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAG TTCACATAACAGCAGTGTCTAGAGGAACATGTATAGCCCTCACTTCACGT AACAACAGTGTCTAGAGGAACATGCATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(247): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACC CCCCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0040 a0001c0003t0024g0040	1	337	0.0030	254	c.61+ others(269): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTG AGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAG GTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(247): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACC CCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0038 a0001c0001t0027g0038	1	337	0.0030	254	c.61+ others(269): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCCCATGT others(247): Show CCCCATGTCTCCGCTCCATCCCATGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0022 a0001c0005t0002g0022	1	295	0.0034	254	c.51 others(265): Show c.5106_*5107insACGGAGCAGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAG CAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACATG GGATGGAGCGGAGACATGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3933		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(247): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	295	0.0034	254	c.43 others(265): Show c.4300_*4301insACGGAGCAGGGACACGGGACGGAGCAGGGACACG GGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CTCGGGGGACGGAGCAGGGACACGGGGGACGGGGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACA CGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCGTGTCT others(247): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	254	c.38 others(265): Show c.3836_*3837insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GACACGGGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGACACG GGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289872	T T	TCCCGTGT others(247): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	295	0.0034	254	c.36 others(265): Show c.3691_*3692insGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGG GGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2518		chr1	TogoVar
ADAM12_chr10_126007391_126393477	126113565	C C	CGGGCGGA others(247): Show CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCG TGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp1 HG02257.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0008 a0002c0001t0045 a0001c0002t0008 a0002c0001t0045	a0001c0002t0008g0017 a0002c0001t0045g0051 a0001c0002t0008g0017 a0002c0001t0045g0051	2	252	0.0079	254	c.604 others(271): Show c.604-3726_604-3725insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCC	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179134872	T T	TCCAGCCC others(247): Show TCCAGCCCCCAGCTCCGAGCCTCTAGCCCCCAGCTCCCGGCTCCAGTCCC CAGCTCCCGGCTCCAGCTCCAGCCCCCAGCTCCCGGCTCCAGCCCCCAGC TCCGAGCCTCTAGCCCCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTC CAGCTCCCAGCTCCCGGCTCCAGCCCCCAGCTCCCGGCTCCAGCTCCAGC TCCCGGCTCCAGCTCCAGCTCCCGGCTCCAGCCCCCAGCTCCGAGCCTCT AGCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp2 HG01167.hp2 HG03195.hp2	a0001 a0015 a0001 a0015	a0001c0048 a0015c0086 a0001c0048 a0015c0086	a0001c0048t0004 a0015c0086t0004 a0001c0048t0004 a0015c0086t0004	a0001c0048t0004g0195 a0015c0086t0004g0201 a0001c0048t0004g0195 a0015c0086t0004g0201	2	276	0.0073	254	c.208 others(273): Show c.2085+1036_2085+1037insGGGCTAGAGGCTCGGAGCTGGGGGCT GGAGCCGGGAGCTGGAGCTGGAGCCGGGAGCTGGAGCTGGAGCCGGGAGC TGGGGGCTGGAGCCGGGAGCTGGGAGCTGGAGCCGGGAGCTGGGGGCTGG AGCCGGGAGCTGGGGGCTAGAGGCTCGGAGCTGGGGGCTGGAGCCGGGAG CTGGGGGCTGGAGCTGGAGCCGGGAGCTGGGGACTGGAGCCGGGAGCTGG GGGCTAGAGGCTCGGAGCTGGGGGCTGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21			chr5	TogoVar
AFF2_chrX_148495617_149005663	148581334	G G	GTATATAC others(247): Show GTATATACGTATACGTGTACACACATATATATACACGTATATATACGTAT ACGTGTACACACACACACGTATATATACGTATACGTGTACACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0012 a0001c0001t0042g0012	1	169	0.0059	254	c.48- others(271): Show c.48-70661_48-70660insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581356	A A	ATATATAT others(247): Show ATATATATACACGTATATATACGTATACGTGTACACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC ACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATAC GTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ACACG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03017.hp1 HG02074.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0043 a0001c0001t0009g0142 a0001c0001t0004g0043 a0001c0001t0009g0142	2	169	0.0118	254	c.48- others(271): Show c.48-70637_48-70636insTACACGTATATATACGTATACGTGTACA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACACGTATATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15530017	G G	GATATTCT others(247): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATATTCTATATACG TATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACGTATT TCCAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	236	0.0042	254	c.409 others(273): Show c.409+14754_409+14755insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530044	G G	GATATTCT others(247): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATATTCTATATACG TATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACGTATT TCCAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0119 a0001c0001t0009g0119	1	236	0.0042	254	c.409 others(273): Show c.409+14727_409+14728insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(247): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCA CCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	268	0.0037	254	c.-36 others(265): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AHRR_chr5_316714_443285	391308	T T	TGGGGCCA others(247): Show TGGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGTGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCG AGGCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0018 a0004c0003t0018	a0004c0003t0018g0098 a0004c0003t0018g0098	1	268	0.0037	254	c.351 others(273): Show c.351+14595_351+14596insGCCAGAGCGTGCACGGGCGCAGGGCG AGGCGGGTGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGA TGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAT GAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGATG AGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAG GGCGAGGCAGGCGCAGGGCGAGGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKAP17A_chrX_1586604_1607520	1596695	C C	CCCTCCTA others(247): Show CCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCC TAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAG TGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTG TGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGC CGTGT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	151	0.0066	254	c.911 others(271): Show c.911+1194_911+1195insCCTCCATCCCTCCCACCCTCCTAGTGAG GTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTG GATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGAT TCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGCCCTCCTA GTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGTGTCCTCC TAGTGAGGTGGATTCCTCCTCCTCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(247): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGAGAGAGGGGGAAGGGGGAGGGGAGGGG GGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGG GAGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	356	0.0028	254	c.667 others(269): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCT CTCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCC CTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCC TCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(247): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGG GAGAGGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGG GAGGGGAGAGGGGGGAGGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	356	0.0028	254	c.667 others(269): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTC TCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCC CTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCC TCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(247): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGG GAGAGGGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGG GGAGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0142 a0001c0001t0025g0142	1	356	0.0028	254	c.667 others(269): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCC CCCTTCCCCCTCTCCCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTC TCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCC CTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCC TCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(247): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGG GAGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGG GAGGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0227 a0001c0001t0026g0227	1	356	0.0028	254	c.667 others(269): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCCTTCCCCCTCTCCCCCCTCTCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCC CTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCC TCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(247): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGG GGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGG GAGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18981.hp2 HG02738.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0057 a0001c0001t0004 a0001c0001t0057	a0001c0001t0004g0196 a0001c0001t0057g0355 a0001c0001t0004g0196 a0001c0001t0057g0355	2	356	0.0056	254	c.667 others(269): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCC CTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCC TCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(247): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGG GGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGG GAGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGG GGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	356	0.0028	254	c.667 others(269): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCC TCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANK2_chr4_113044653_113388736	113369057	T T	TAAGAATT others(247): Show TAAGAATTTCCTTGTATTTAGGAAATTCTTATTGTACCTCTGAAAAACTG TTTTATTTAATAATAGAGGCATCTGGGTCCTCTGCCTAGGAAAACCAGAG ACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCAT GACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAA AAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0077 a0002c0030t0001g0077	1	178	0.0056	254	c.113 others(273): Show c.11319-438_11319-437insGGAAATTCTTATTGTACCTCTGAAAA ACTGTTTTATTTAATAATAGAGGCATCTGGGTCCTCTGCCTAGGAAAACC AGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTC CCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAA TAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAATTTCCTTGTATTTA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	42/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD55_chr5_56094680_56238330	56152167	T T	TAAAAACT others(247): Show TAAAAACTTTTGTTTGTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATC AATAAAAAAATAAATTAAAAAAAAAAAAAACAACAAAAACAAAAACAAAA ACAAAAAAATAAATGAATAAAATAAAACAAGTACAAATTTAAACTAGAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02896.hp1 others(8): Show HG02647.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03704.hp1 HG04115.hp2 NA19058.hp1 NA19058.hp2 NA19083.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0002 a0001c0001 a0001c0018 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0018t0001 a0002c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0143 a0001c0001t0001g0199 others(8): Show a0001c0001t0001g0046 a0001c0001t0001g0143 a0001c0001t0001g0199 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0255 a0001c0001t0012g0253 a0001c0018t0001g0042 a0002c0002t0001g0027 a0002c0002t0001g0045 a0002c0002t0001g0202	11	308	0.0357	254	c.483 others(271): Show c.483+7665_483+7666insTTTTTTTTCTAGTTTAAATTTGTACTTG TTTTATTTTATTCATTTATTTTTTTGTTTTTGTTTTTGTTTTTGTTGTTT TTTTTTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCAC AGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCA GATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGC GGCCTTCCGCACAAACAAAAGTTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	6/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56152167	T T	TAAAAACT others(247): Show TAAAAACTTTTGTTTGTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATC AATAAAAAAATAAATTAAAAAAAAAAAAACAACAAAAACAAAAACAAAAA CAAAAAAATAAATGAATAAAATAAAACAAGTACAAATTTAAACTAGAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01169.hp2 others(6): Show HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG03239.hp2 NA18953.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 a0001c0001t0001 a0002c0002t0001 a0004c0007t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0228 a0001c0001t0001g0260 a0002c0002t0001g0052 a0004c0007t0001g0195 a0004c0007t0001g0196	9	308	0.0292	254	c.483 others(271): Show c.483+7665_483+7666insTTTTTTTTTCTAGTTTAAATTTGTACTT GTTTTATTTTATTCATTTATTTTTTTGTTTTTGTTTTTGTTTTTGTTGTT TTTTTTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCAC AGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCA GATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGC GGCCTTCCGCACAAACAAAAGTTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	6/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56152167	T T	TAAAAACT others(247): Show TAAAAACTTTTGTTTGTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATC AATAAAAAAATAAATTAAAAAAGAAAAAACAACAAAAACAAAAACAACAA AAAAAAAATAAATGAATAAAATAAAACAAGTACAAATTTAAACTAGAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	308	0.0033	254	c.483 others(271): Show c.483+7665_483+7666insTTTTTTTTTCTAGTTTAAATTTGTACTT GTTTTATTTTATTCATTTATTTTTTTTTTGTTGTTTTTGTTTTTGTTGTT TTTTCTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCAC AGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCA GATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGC GGCCTTCCGCACAAACAAAAGTTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	6/11			chr5	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATGTA others(247): Show CGTATGTATACATATATGTATAAATACATACATATTTATACGTATATGTA TACATACATATTAATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATTTATACATATATATGTATAAATACA TACATATTTATACATATATATGTATAAATACATATACATATTTATACATA TATGTATAAATACATATACATATTTATACATATATGTATAAATACATATA CATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0073 a0001c0001t0116g0073	1	256	0.0039	254	c.39 others(263): Show c.393_*394insGTATGTATACATATATGTATAAATACATACATATTT ATACGTATATGTATACATACATATTAATACATATATATGTATAAATACAT ACATATTTATACATATATATGTATAAATACATACATATTTATACATATAT ATGTATAAATACATACATATTTATACATATATATGTATAAATACATATAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049897	A A	AGGGGGAA others(247): Show AGGGGGAACACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAA CACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGGAACA CATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGG CAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	308	0.0033	254	c.48 others(265): Show c.4833_*4834insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCCCC CTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTG TTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCTCCATGTGTTCTCCTC TGCCCCCCATGTGTTCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2206		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79327659	T T	TTTAGCGT others(247): Show TTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTC TCCATGGTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGT GCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTCCGTGGTTA ACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCCCTG GTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTC CGTGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0008 a0013 a0008 a0013	a0008c0030 a0013c0023 a0008c0030 a0013c0023	a0008c0030t0001 a0013c0023t0001 a0008c0030t0001 a0013c0023t0001	a0008c0030t0001g0254 a0013c0023t0001g0042 a0008c0030t0001g0254 a0013c0023t0001g0042	2	298	0.0067	254	c.177 others(273): Show c.1774-1421_1774-1420insATGCTCTCCGTGTTTAGCGTGCTCTC CGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGC TCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGT GTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTT TAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCG TGGTTAGTGTGCTCTCTCCATGGTTAGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BCL2_chr18_63118346_63324769	63198864	A A	AAGACACA others(247): Show AAGACACACAGTGACACACAGACACAGAGACACACACACAGACATACACA GACACACACAGACACAGAGACACACACAGACACACACAGACACAGTGACA CACAGACACAGAGACACACACACAGACACACAGTGACACACAGACACAGA GACACACACACAGACATACACAGACACACACAGACACAGAGACACACACA GACAGACACAGACACACACAGACACAGTGACACACAGACACAGAGACACA CACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02698.hp1 HG02809.hp1 others(2): Show HG01978.hp2 HG02698.hp1 HG02809.hp1 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0001t0011 a0001c0001t0056 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0056 a0001c0002t0034 a0001c0004t0006	a0001c0001t0005g0115 a0001c0001t0011g0033 a0001c0001t0056g0254 others(2): Show a0001c0001t0005g0115 a0001c0001t0011g0033 a0001c0001t0056g0254 a0001c0002t0034g0072 a0001c0004t0006g0038	5	264	0.0189	254	c.586 others(273): Show c.586-70106_586-70105insGTGTGTGTGTCTCTGTGTCTGTGTGT CACTGTGTCTGTGTGTGTCTGTGTCTGTCTGTGTGTGTCTCTGTGTCTGT GTGTGTCTGTGTATGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGT GTGTCTGTGTGTGTGTCTCTGTGTCTGTGTGTCACTGTGTCTGTGTGTGT CTGTGTGTGTCTCTGTGTCTGTGTGTGTCTGTGTATGTCTGTGTGTGTGT CTCTGTGTCTGTGTGTCACTGTGTGTCT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BICD1_chr12_32101847_32388633	32252138	T T	TATATTAT others(247): Show TATATTATATATTTATAATAAATATTATATATTATATATTTATTATAAAT ATTATATATTATATATTTATAATAAATATTATATATTATATATTTATTAT AAATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATAATAT ATTATATATTATATTTATTATAAATATTATATATTATATATTATATTTAT AATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0163 a0001c0001t0006g0163	1	290	0.0035	254	c.426 others(273): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATTATAAATATTATATATTATATATTTATAATAAATATTATATATTAT ATATTTATTATAAATATTATATATTATATTTATAATAAATATTATATATT ATATATTATATTTATAATAAATATTATATATTATATATTATATTTATAAT AAATATAATATATTATATATTATATTTATTATAAATATTATATATTATAT ATTATATTTATAATAAATATTATATATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(247): Show ATACATATATTATATATGTATATATAATATATACATATATTATATATGTA TATATATAATATATACATATATTATATATGTATATATTATATATACATAT ATTATATATGTATATATTATATATAAAATATATATAATATATATTAAAAA TATATATTATATATATTAAAAATATATATTATATATATTAAAAATATATA TTATATATATTAAAATATATATATAATATATATTAAAAATATATATTATA TATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0017 a0003c0003t0004g0017	1	186	0.0054	254	c.225 others(273): Show c.225-18719_225-18718insCATATATTATATATGTATATATAATA TATACATATATTATATATGTATATATATAATATATACATATATTATATAT GTATATATTATATATACATATATTATATATGTATATATTATATATAAAAT ATATATAATATATATTAAAAATATATATTATATATATTAAAAATATATAT TATATATATTAAAAATATATATTATATATATTAAAATATATATATAATAT ATATTAAAAATATATATTATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(247): Show ATACATATATTATATATGTATATATTATATATACATATATTATATATGTA TATATATAATATATACATATATTATATATGTATATATTATATATACATAT ATTATATATGTATATATTATATATAAAATATATATAATATATATTAAAAA TATATATTATATATATTAAAAATATATATTATATATATTAAAAATATATA TTATATATATTAAAATATATATATAATATATATTAAAAATATATATTATA TATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02965.hp1 HG01074.hp2 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0018 a0003c0003t0004g0019 a0003c0003t0004g0018 a0003c0003t0004g0019	2	186	0.0108	254	c.225 others(273): Show c.225-18719_225-18718insCATATATTATATATGTATATATTATA TATACATATATTATATATGTATATATATAATATATACATATATTATATAT GTATATATTATATATACATATATTATATATGTATATATTATATATAAAAT ATATATAATATATATTAAAAATATATATTATATATATTAAAAATATATAT TATATATATTAAAAATATATATTATATATATTAAAATATATATATAATAT ATATTAAAAATATATATTATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(247): Show TGGGGGGGACAGGGTCCTGCCCTGAGGGGTGAGGGGGGGACGGGGTCCTG CCCTGAGGGGTGTGGGGGGGACGGGGTCCTGTCCTGAGGGGTCTGAGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACG GGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGG GTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0024 a0001c0002t0022g0024	1	322	0.0031	254	c.30 others(265): Show c.3065_*3066insCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCC ACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCAGGGCAGG ACCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCC CTCAGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCAGGACAGGACCCCG TCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACCCCTCAG GGCAGGACCCTGTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1204746	T T	TCCCAGAT others(247): Show TCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGGGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0011 a0014c0018t0011	a0014c0018t0011g0151 a0014c0018t0011g0151	1	338	0.0030	254	c.245 others(271): Show c.2451+320_2451+321insCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	CGGGTGGG others(247): Show CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGCG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	338	0.0030	254	c.245 others(267): Show c.2451+321delTinsCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTG CCGGGGAGGGGTGGGAGCCGCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(247): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGGTGGGGGCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGA GCCGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0234 a0004c0006t0002g0234	1	338	0.0030	254	c.245 others(271): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204821	C C	CGGGTGGG others(247): Show CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGGTGGGAGCCGCGGGTGGGGGCCCCGATCAGTGC CGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCACGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGA GCCGT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0004 a0024c0037t0004	a0024c0037t0004g0056 a0024c0037t0004g0056	1	338	0.0030	254	c.245 others(271): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGGTGGGAGCCGCG GGTGGGGGCCCCGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204821	C C	CGGGTGGG others(247): Show CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCACGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGA GCCGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0006 a0013c0030t0006	a0013c0030t0006g0010 a0013c0030t0006g0010	1	338	0.0030	254	c.245 others(271): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204821	C C	CGGGTGGG others(247): Show CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGGTGGGGGCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCACGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGA GCCGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0004 a0024c0037t0004	a0024c0037t0004g0280 a0024c0037t0004g0280	1	338	0.0030	254	c.245 others(271): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCCGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204956	G G	GCCCAGAT others(247): Show GCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGT GGGGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0035 a0035	a0035c0104 a0035c0104	a0035c0104t0002 a0035c0104t0002	a0035c0104t0002g0064 a0035c0104t0002g0064	1	338	0.0030	254	c.245 others(271): Show c.2452-155_2452-154insAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCC AGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54736011	A A	ATATACAT others(247): Show ATATACATATATATATACGTATATATATATGTATATATATGTATATATAT ATACGTATATATATGTATATATATACATATATATACGTATATATATATAC ATATATATATACATATATACGTGTATATATACGTATATATACGTGTATAT ATACGTATATATACGTATATATATACGTATATATACGTATATATATACGT ATATATACGTATATATACACGTATATATACGTATATATATATACATATAT ATACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0018 a0001c0023t0001g0018	1	118	0.0085	254	c.116 others(275): Show c.1168-16584_1168-16583insCATATATATATACGTATATATATA TGTATATATATGTATATATATATACGTATATATATGTATATATATACATA TATATACGTATATATATATACATATATATATACATATATACGTGTATATA TACGTATATATACGTGTATATATACGTATATATACGTATATATATACGTA TATATACGTATATATATACGTATATATACGTATATATACACGTATATATA CGTATATATATATACATATATATACGTATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(247): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GGGAGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAG GGAGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0076 a0001c0001t0004g0077	2	386	0.0052	254	c.803 others(268): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGGG AGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC187_chr9_136244973_136309094	136252379	A A	AGGGGAAG others(247): Show AGGGGAAGGTCCAGGCGACCGTCCCGCAGAGCCGGCGCCCACCCTGTCCA CCAGGGGAAGAGCCGGCCGCCCACCTGGCCCACCCTGGGAAGAGCCGGCC GCCCACCCAGTCCACCCCGGGAAGGTCCAGGCGAACGTCCTGCGGAGCCG GCCGCCCACCTGGCCCACCCTGGGAAGAGCCGGCCGCCCACCCCGTCCAC CAGGGGAAGGTCCAGGCAACCGTCCCGCACAGCCGGCCGCCCACCCTGTC CACCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0011 a0011	a0011c0060 a0011c0060	a0011c0060t0107 a0011c0060t0107	a0011c0060t0107g0377 a0011c0060t0107g0377	1	400	0.0025	254	c.12 others(265): Show c.1214_*1215insCGGTGGACAGGGTGGGCGGCCGGCTGTGCGGGAC GGTTGCCTGGACCTTCCCCTGGTGGACGGGGTGGGCGGCCGGCTCTTCCC AGGGTGGGCCAGGTGGGCGGCCGGCTCCGCAGGACGTTCGCCTGGACCTT CCCGGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGGCCAGGTG GGCGGCCGGCTCTTCCCCTGGTGGACAGGGTGGGCGCCGGCTCTGCGGGA CGGTCGCCTGGACCTTCCCC	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1214		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252379	A A	AGGGGAAG others(247): Show AGGGGAAGGTCCAGGCGACCGTCCCGCAGAGCCGGCGCCCACCCTGTCCA CCAGGGGAAGAGCCGGCCGCCCACCTGGCCCACCCTGGGAAGAGCCGGCC GCCCACCCAGTCCACCCCGGGAAGGTCCAGGCGACCGTCCTGCGGAGCCG GCCGCCCACCTGGCCCACCCTGGGAAGAGCCGGCCGCCCACCCCGTCCAC CAGGGGAAGGTCCAGGCAACCGTCCCGCACAGCCGGCCGCCCACCCTGTC CACCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18954.hp2 NA18982.hp2 NA18984.hp1 NA18954.hp2 NA18982.hp2 NA18984.hp1	a0011 a0053 a0011 a0053	a0011c0017 a0011c0060 a0053c0045 a0011c0017 a0011c0060 a0053c0045	a0011c0017t0097 a0011c0060t0042 a0053c0045t0042 a0011c0017t0097 a0011c0060t0042 a0053c0045t0042	a0011c0017t0097g0352 a0011c0060t0042g0376 a0053c0045t0042g0016 a0011c0017t0097g0352 a0011c0060t0042g0376 a0053c0045t0042g0016	3	400	0.0075	254	c.12 others(265): Show c.1214_*1215insCGGTGGACAGGGTGGGCGGCCGGCTGTGCGGGAC GGTTGCCTGGACCTTCCCCTGGTGGACGGGGTGGGCGGCCGGCTCTTCCC AGGGTGGGCCAGGTGGGCGGCCGGCTCCGCAGGACGGTCGCCTGGACCTT CCCGGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGGCCAGGTG GGCGGCCGGCTCTTCCCCTGGTGGACAGGGTGGGCGCCGGCTCTGCGGGA CGGTCGCCTGGACCTTCCCC	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1214		chr9	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(247): Show TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCC TGTCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0188 a0003c0003t0002g0188	1	284	0.0035	254	c.411 others(271): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(247): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTG CCACA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0212 a0001c0011t0001g0212	1	284	0.0035	254	c.411 others(271): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCAGGTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133213962	C C	CTATATAT others(247): Show CTATATATACACTATATATAGTAGTTATATATACTATATATACACTATAT ATAGTTATATACACTATATATAACTATATATAGTTATATATACTATATAT ACTATATATAGTTATATATACTATATATAACTATATATAGTATATATACT ATATATACACTATATATAGTAGTTATATATACTATATATACACTATATAT AGTATATATACACTATATATAGTAGTTATATATACTATATATACACTATA TATAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp2 HG01891.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0362 a0001c0001t0022g0283 a0001c0001t0005g0362 a0001c0001t0022g0283	2	396	0.0051	254	c.349 others(269): Show c.349+873_349+874insTATATACACTATATATAACTATATATAGTT ATATATACTATATATACTATATATAGTTATATATACTATATATAACTATA TATAGTATATATACTATATATACACTATATATAGTAGTTATATATACTAT ATATACACTATATATAGTATATATACACTATATATAGTAGTTATATATAC TATATATACACTATATATAGTATATATACACTATATATAGTAGTTATATA TACTATATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(247): Show AGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAG GGGAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATGG GGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGAC GGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAG GGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03516.hp1 HG02280.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0079 a0002c0002t0015 a0001c0001t0079 a0002c0002t0015	a0001c0001t0079g0030 a0002c0002t0015g0031 a0001c0001t0079g0030 a0002c0002t0015g0031	2	256	0.0078	254	c.727 others(271): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCC CCTCCCCTCCCTCCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(247): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTACGCATACACACACATA TGTGTGTGTATGCATACACACACATATATGTGTGTGTATACGCATACACA CATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0027 a0002c0002t0007g0027	1	442	0.0023	254	c.27 others(265): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAC GCATACACACACATATGTGTGTGTATGCATACACACACATATATGTGTGT GTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar

Search by Variant

Search

Search Results