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
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(303): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATGAAA AAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0012 a0004c0015t0012	a0004c0015t0012g0173 a0004c0015t0012g0173	1	256	0.0039	310	c.165 others(327): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATGAAAAAAGAAAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401321	G G	GCCCCGCT others(303): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	242	0.0041	310	c.45 others(321): Show c.4574_*4575insGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGG GCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4394		chr11	TogoVar
SIGIRR_chr11_400716_419999	401535	C C	CGCCCCGC others(303): Show CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCC CCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCC GCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	242	0.0041	310	c.43 others(321): Show c.4360_*4361insCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCG GGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGT GTGAGCGGGGCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4180		chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(303): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01123.hp1 others(12): Show HG00099.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01952.hp2 HG01975.hp2 HG02273.hp1 HG03704.hp2 HG04199.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0014	a0002c0008 a0002c0023 a0005c0009 others(5): Show a0002c0008 a0002c0023 a0005c0009 a0005c0047 a0005c0058 a0005c0070 a0009c0046 a0014c0048	a0002c0008t0003 a0002c0023t0002 a0005c0009t0001 others(8): Show a0002c0008t0003 a0002c0023t0002 a0005c0009t0001 a0005c0009t0002 a0005c0009t0004 a0005c0009t0005 a0005c0047t0003 a0005c0058t0002 a0005c0070t0003 a0009c0046t0001 a0014c0048t0008	a0002c0008t0003g0278 a0002c0023t0002g0020 a0005c0009t0001g0160 others(12): Show a0002c0008t0003g0278 a0002c0023t0002g0020 a0005c0009t0001g0160 a0005c0009t0001g0161 a0005c0009t0002g0029 a0005c0009t0002g0040 a0005c0009t0004g0207 a0005c0009t0005g0017 a0005c0009t0005g0042 a0005c0009t0005g0066 a0005c0047t0003g0249 a0005c0058t0002g0039 a0005c0070t0003g0243 a0009c0046t0001g0151 a0014c0048t0008g0257	15	292	0.0514	310	c.309 others(329): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCTGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(303): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01884.hp2 HG02257.hp2 others(5): Show HG01168.hp2 HG01884.hp2 HG02257.hp2 HG02486.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0005 a0002c0007 a0002c0008 others(3): Show a0001c0005 a0002c0007 a0002c0008 a0002c0023 a0002c0038 a0005c0009	a0001c0005t0022 a0002c0007t0001 a0002c0007t0003 others(5): Show a0001c0005t0022 a0002c0007t0001 a0002c0007t0003 a0002c0008t0006 a0002c0008t0026 a0002c0023t0008 a0002c0038t0001 a0005c0009t0008	a0001c0005t0022g0288 a0002c0007t0001g0192 a0002c0007t0003g0270 others(5): Show a0001c0005t0022g0288 a0002c0007t0001g0192 a0002c0007t0003g0270 a0002c0008t0006g0009 a0002c0008t0026g0292 a0002c0023t0008g0289 a0002c0038t0001g0098 a0005c0009t0008g0283	8	292	0.0274	310	c.309 others(329): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SKAP1_chr17_48128442_48435214	48427627	T T	TAAAAGCA others(303): Show TAAAAGCACACACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02895.hp1 others(1): Show HG01243.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 others(1): Show a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247	4	292	0.0137	310	c.46+ others(325): Show c.46+2447_46+2448insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTGTGTGTGCTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC22A16_chr6_110419687_110481613	110473739	A A	ATGGTCTC others(303): Show ATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCTTTTTTTTTTTTGTT TTTTTGTTTTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCCCCTAGGTTCAAG CGATTCTCCTGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCCCGCC ACTGTGCATGGCTAATTTTTGTATTTATAGTAGAGACGGGGTTTCACCAT CTTGGCCAGGC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	416	0.0024	310	c.53+ others(325): Show c.53+2782_53+2783insGCCTGGCCAAGATGGTGAAACCCCGTCTCT ACTATAAATACAAAAATTAGCCATGCACAGTGGCGGGCGCCTGTAATCCC AGCTACTAGGGAGGCTGAAGCAGGAGAATCGCTTGAACCTAGGGGGTGGA GGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTTCATCTCAAAAAAAAAACAAAAAAACAAAAAAAAAAAAGCTG GGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GCAGATCACGAGGTCAGGAGATCGAGACCA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	1/7			chr6	TogoVar
SLC2A13_chr12_39750025_40111081	39816593	G G	GAAAGAAA others(303): Show GAAAGAAAAATCAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG02622.hp1 others(4): Show HG00738.hp2 HG01106.hp1 HG02622.hp1 HG02976.hp1 HG03834.hp2 HG04199.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0012 a0001c0002t0004g0017 a0001c0002t0004g0018 others(4): Show a0001c0002t0004g0012 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0007g0014	7	214	0.0327	310	c.144 others(331): Show c.1445+13509_1445+13510insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCTGATTTTTCTTT	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9			chr12	TogoVar
SLC2A13_chr12_39750025_40111081	39816593	G G	GAAAGAAA others(303): Show GAAAGAAAAATCAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0013	1	214	0.0047	310	c.144 others(331): Show c.1445+13509_1445+13510insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCTGATTTTTCTTT	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9			chr12	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(303): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG03516.hp1 HG02809.hp1 HG02809.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0005 a0001c0001t0005 a0002c0002t0005	a0001c0001t0005g0044 a0001c0001t0005g0159 a0002c0002t0005g0114 a0001c0001t0005g0044 a0001c0001t0005g0159 a0002c0002t0005g0114	3	182	0.0165	310	c.100 others(329): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(303): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	156	0.0064	310	c.176 others(327): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAA TATATACTATATATATTATATACAATATATAATATATACTATATATATTA TATACAATATATAATATATACTATATATATTATATATACAATATAAAATA TATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244802	T T	TTATATAT others(303): Show TTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTAATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0230 a0002c0002t0003g0230	1	420	0.0024	310	c.183 others(329): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTAATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC9A3_chr5_465456_529449	486841	G G	GCCCACCG others(303): Show GCCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACT GACACCCACCACACTGACACCCACCACACTGACACCCACCACACTGACAC CGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCACACTGA CACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCACAC TGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCG CACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCA CCGCACTGACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp2 HG02922.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0011 a0002c0005t0016 a0001c0001t0011 a0002c0005t0016	a0001c0001t0011g0154 a0002c0005t0016g0002 a0001c0001t0011g0154 a0002c0005t0016g0002	2	218	0.0092	310	c.675 others(327): Show c.675+1474_675+1475insTGTCAGTGCGGTGGGTGTCAGTGTGGTG GGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGCG GTCTGGATCACGGTGTCAGTGTGGTGGGTGTCAGTGTGGTGGGTGTCAGT GTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTGGGTGTC AGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTGGGT GTCAGTGTGGTGGGTGTCAGTGTGGTGGGTGTCAGTGTGGTGGGTGTCAG TGCGGTCTGGATCACGGTGTCAGTGCGGTGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	91957116	A A	AATATATA others(303): Show AATATATAGTATATAATATATATAATATATATACTATATATTATATATAA TATATAGTATATAATATATATAATATATATACTATATATTATATATAATA TATAGTATATAATATATATAATATATATACTATATATTATATATATAATA TATAGTATATAATATATATAATATATATACTATATATTATATATAATATA TAGTATATAATATATATATAATATATATACTATATATTATATATATAATA TATAGTATATAATATATAATATATACTATATATTATATATATAATATATA GTATATATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0183 a0001c0001t0007g0183	1	190	0.0053	310	c.646 others(329): Show c.646+40665_646+40666insGTATATAATATATATAATATATATAC TATATATTATATATAATATATAGTATATAATATATATAATATATATACTA TATATTATATATAATATATAGTATATAATATATATAATATATATACTATA TATTATATATATAATATATAGTATATAATATATATAATATATATACTATA TATTATATATAATATATAGTATATAATATATATATAATATATATACTATA TATTATATATATAATATATAGTATATAATATATAATATATACTATATATT ATATATATAATATATAGTATATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92029813	T T	TCATACAT others(303): Show TCATACATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp2 HG01496.hp1 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0040 a0001c0004t0045 a0001c0002t0040 a0001c0004t0045	a0001c0002t0040g0036 a0001c0004t0045g0034 a0001c0002t0040g0036 a0001c0004t0045g0034	2	190	0.0105	310	c.647 others(329): Show c.647-65057_647-65056insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCATACATTTTT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92029813	T T	TCATACAT others(303): Show TCATACATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGTCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0069 a0001c0010t0012g0069	1	190	0.0053	310	c.647 others(329): Show c.647-65057_647-65056insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGTCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCATACATTTTT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143399	A A	ATAATATA others(303): Show ATAATATATGTAATATTATATATAATATATATAATATATATTATATATAA TATATATAATATATATATTATATAATATATATAAAAAATATATATTATAT ATAAAAAATATATATTATATAATATATATAAAATATATATATTATATAAT ATATATATAATATATATAAAATATATATATTATATAATATATATATAATA TATATAAAATATATATATTATATATATATATATAATATATATAAAATATA TATATTATATAATATATATATAATATATATATATAATATATATAATATAT ATAAAATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0004 a0003c0012t0004	a0003c0012t0004g0153 a0003c0012t0004g0153	1	190	0.0053	310	c.151 others(329): Show c.1513-3585_1513-3584insTAATATATGTAATATTATATATAATA TATATAATATATATTATATATAATATATATAATATATATATTATATAATA TATATAAAAAATATATATTATATATAAAAAATATATATTATATAATATAT ATAAAATATATATATTATATAATATATATATAATATATATAAAATATATA TATTATATAATATATATATAATATATATAAAATATATATATTATATATAT ATATATAATATATATAAAATATATATATTATATAATATATATATAATATA TATATATAATATATATAATATATATAAAATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(303): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01975.hp1 HG02300.hp1 others(2): Show HG01496.hp1 HG01975.hp1 HG02300.hp1 HG03491.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0284 a0001c0001t0002g0302 a0001c0001t0002g0303 others(2): Show a0001c0001t0002g0284 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0329 a0001c0001t0006g0304	5	340	0.0147	310	c.17 others(329): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAACATAATATATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168572257	C C	CGGGACCA others(303): Show CGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGC ATCCCTGGGTGCTGGGACCAGGGCTGTGTGCTCCCTGAACGCGATGTTCA TTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGA ACGCGATGTTCATTTCCTCCCCGCATCTCCGGGTGCTGGGACCAGGGCTG CGTGGTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCAT CCCCGGGTGCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	180	0.0056	310	c.637 others(329): Show c.637+23083_637+23084insGATGTTCATTTCCTCCCCGCATCCCT GGGTGCTGGGACCAGGGCTGTGTGCTCCCTGAACGCGATGTTCATTTCCT CCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCGA TGTTCATTTCCTCCCCGCATCTCCGGGTGCTGGGACCAGGGCTGCGTGGT CCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCA GGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGG GTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246389751	T T	TGGGGACC others(303): Show TGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTC ATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTG TAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTA GAGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTG AAGTCAGTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02257.hp1 HG02717.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0007 a0002c0008	a0002c0007t0001 a0002c0008t0002 a0002c0007t0001 a0002c0008t0002	a0002c0007t0001g0123 a0002c0008t0002g0125 a0002c0007t0001g0123 a0002c0008t0002g0125	2	150	0.0133	310	c.165 others(329): Show c.165-34658_165-34657insGAAACTGACTTCAACCTCGAGGTGAT TTTCAAGAATGAATGCTTTCTACAAGGAGGTCCTCTAGAAACTGACTTCA ACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAG AAACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAA GGAGGTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAA TGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAACCTCGAGGTGATT TTCAAGAATGAATGCTTTCTACAAGGAGGTCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SND1_chr7_127647194_128097593	128051395	C C	CAAAAATC others(303): Show CAAAAATCAGTTACACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02922.hp1 others(3): Show HG02257.hp2 HG02572.hp2 HG02922.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 others(3): Show a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167	6	262	0.0229	310	c.178 others(331): Show c.1780-23091_1780-23090insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAATCAGTTACACC	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(303): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	366	0.0027	310	c.265 others(327): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(303): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATAAAT ATATATATATAAATATATATATATAAATATATATATATTTATATATATAA ATATATATATATAAATATATATATATTTATATATATAAATATATATATAT AAATATATATATATTTATATATATAAATATATATATATTTATATATATAA ATATATATATATTTATATATATAAATATATATATATTTATATATATAAAT ATATATATATT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	382	0.0026	310	c.159 others(327): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATAAATATATATATATAAATATATATATATAAATATATATATATT TATATATATAAATATATATATATAAATATATATATATTTATATATATAAA TATATATATATAAATATATATATATTTATATATATAAATATATATATATT TATATATATAAATATATATATATTTATATATATAAATATATATATATTTA TATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(303): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGAC TGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02717.hp2 others(4): Show HG02451.hp2 HG02647.hp1 HG02717.hp2 HG02976.hp1 HG03139.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0012 a0001c0001t0001 a0001c0001t0007 a0001c0002t0012	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(4): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0007g0040 a0001c0002t0012g0156	7	380	0.0184	310	c.-13 others(327): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGC CTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAAR_chr9_35904490_35916686	35914018	G G	GAGTGTGT others(303): Show GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTATTTTTTTATGCTGTAGTGTGTGTAAGTTGTATGTGTGTA GTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGTAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGTTGTA TGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGATGTGTGTGTAAGT TGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	420	0.0048	310	c.33 others(321): Show c.3327_*3328insAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTATTTTTTTATGCTGTAGTGTGTGTA AGTTGTATGTGTGTAGTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTAGTG TGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGT GATGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2333		chr9	TogoVar
SPATA17_chr1_217626344_217876696	217740158	A A	AGGCCTTT others(303): Show AGGCCTTTCTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTGTTTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	252	0.0040	310	c.396 others(327): Show c.396-1804_396-1803insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTGTTTTT TAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGGCCTTTCTTCTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46169859	C C	CTCTGCTC others(303): Show CTCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGT GAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTG TGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAG GAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTAT TCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCAT CCTCGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATG GGGAGGAGCCT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	251	0.0040	310	c.194 others(327): Show c.194-1202_194-1201insAGGCTCCTCCCCATCCACAGAGGATGTT CACAGAGCAGGGGGCTCCTCCCCATCCACGAGGATGCTCACAGAGCAGGA GGCTCCTCCCCATCCACAGAGGATGTTCACAGAATAGGGGGCTCCTCCCC ATCCACAGAGGATGTTCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGG ATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGA GCAGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCC TCCCCATCCACAGAGGATGCTCACAGAGCAGA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46170142	G G	GCATCCTC others(303): Show GCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGT GGTCCAGGAGGAGCCTCCTTCTCTGTGAACATCCTCTGTGGATGTGGAGG AGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCT CTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATC CTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATG GGGAGGAGCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCC TACTCTGTGAA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0071 a0009c0015t0001g0071	1	251	0.0040	310	c.194 others(327): Show c.194-1485_194-1484insTTCACAGAGTAGGGGCTCCTCCCCATCC ACAGAGGATGTTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGTT CACAGAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGG AGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCC CATCCACAGAGGATGTTCACAGAGCAGGGGGCTCCTCCACATCCACAGAG GATGTTCACAGAGAAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAG AGCAGGAGGCTCCTCCCCATCCACAGAGGATG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SRP68_chr17_76033785_76077517	76050728	G G	GGGGAGTT others(303): Show GGGGAGTTCTATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTT GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	365	0.0027	310	c.979 others(325): Show c.979-203_979-202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAAATAGAACTCCC	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	8/15			chr17	TogoVar
SRXN1_chr20_641615_658200	642330	G G	GCCCAGCG others(303): Show GCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGGGC CCAGCGGGGGTGGAGTTGCCGGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	422	0.0024	310	c.63 others(321): Show c.6383_*6384insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCGGCAACTCCACCCCCGCTGGGCCCCCCCGCAGGCAACTCCACC CCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCAGGCAACCCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4284		chr20	TogoVar
STIM2_chr4_26855841_27030381	26941684	T T	TAATTATT others(303): Show TAATTATTGGCTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02965.hp2 others(1): Show HG02109.hp1 HG02451.hp1 HG02965.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0330 a0001c0001t0015g0331 a0001c0001t0015g0332 others(1): Show a0001c0001t0015g0330 a0001c0001t0015g0331 a0001c0001t0015g0332 a0001c0001t0015g0333	4	336	0.0119	310	c.283 others(329): Show c.283-15912_283-15911insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAATTATTGGCTTTCTT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5064488	G G	GTTATATA others(303): Show GTTATATACATATATAATATATAAATATATACTTATATACATATATAATA TATAAATATATACTTATATACATATATAATATATAAATATATACTTATAT ACATATATAATATATAAATATATACTTATATACATATATAATATATAAAT ATATACTTATATACATATATAATATATAAATATATACTTATATACATATA TAATATATAAATATATACTTATATACATATATAATATATAAATATATACT TATATACATATATAATATATAAATATATACTTATATACATATATAATATA TAAATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG02451.hp2 HG02630.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0002g0106 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0002g0106 a0001c0001t0020g0123	4	170	0.0235	310	c.52+ others(327): Show c.52+12578_52+12887dupATACATATATAATATATAAATATATACT TATATACATATATAATATATAAATATATACTTATATACATATATAATATA TAAATATATACTTATATACATATATAATATATAAATATATACTTATATAC ATATATAATATATAAATATATACTTATATACATATATAATATATAAATAT ATACTTATATACATATATAATATATAAATATATACTTATATACATATATA ATATATAAATATATACTTATATACATATATAATATATAAATATATACTTA TATACATATATAATATATAAATATATACTTAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(303): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0241 a0001c0001t0018g0241	1	268	0.0037	310	c.75 others(321): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SVEP1_chr9_110360248_110584741	110373614	T T	TAGCAAGC others(303): Show TAGCAAGCCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCAC TGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0053 a0053	a0053c0161 a0053c0161	a0053c0161t0011 a0053c0161t0011	a0053c0161t0011g0002 a0053c0161t0011g0002	1	362	0.0028	310	c.106 others(331): Show c.10600+1753_10600+1754insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATC GCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAACATAGGGCTTGCT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	46/47			chr9	TogoVar
SYN2_chr3_11999388_12197032	12095548	A A	AAAAAAAA others(303): Show AAAAAAAAAAAAAAAAAAAACATTGGCCGGGCACGGTGGCTTACGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGA TCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAATATTA AAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGAGCTT GCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCAGCAA GACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG02056.hp2 others(1): Show HG01255.hp2 HG01358.hp1 HG02056.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0097 others(1): Show a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0097 a0002c0002t0001g0098	4	264	0.0152	310	c.378 others(329): Show c.378-45084_378-45083insCATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(303): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	246	0.0041	310	c.84+ others(327): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATCCATATATATATCCATATATATAT ATCCATATATATATCCATATATATATATATCCATATATATATATATCCAT ATATATATATATCCATATATATATATCCATATATATATATATCCATATAT ATATATCCATATATATATATATCCATATATATATATATCCATATATATAT ATCCATATATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAS2R19_chr12_11016619_11027620	11026424	T T	TGAAAGTA others(303): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00621.hp1 others(59): Show HG00140.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02056.hp1 HG02109.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02622.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19078.hp2 NA19087.hp2 NA19090.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	62	417	0.1487	310	c.-38 others(321): Show c.-3854_-3853insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCG GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCTTCAATTATACTTTC	TAS2R19	ENSG00000212124.2	transcript	ENST00000390673.2	protein_coding		3805		chr12	TogoVar
TAS2R19_chr12_11016619_11027620	11026424	T T	TGAAAGTA others(303): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	417	0.0048	310	c.-38 others(321): Show c.-3854_-3853insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCTTCAATTATACTTTC	TAS2R19	ENSG00000212124.2	transcript	ENST00000390673.2	protein_coding		3805		chr12	TogoVar
TAS2R1_chr5_9622347_9635351	9627368	T T	TATGAATT others(303): Show TATGAATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG03130.hp2 HG03225.hp1 HG01109.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0027 a0001c0001t0021 a0001c0001t0027	a0001c0001t0021g0000 a0001c0001t0027g0000 a0001c0001t0021g0000 a0001c0001t0027g0000	3	458	0.0066	310	c.17 others(321): Show c.1764_*1765insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAGAATTCAT	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding	1/1	1764		chr5	TogoVar
TAS2R31_chr12_11025387_11036407	11026424	T T	TGAAAGTA others(303): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00558.hp2 others(62): Show HG00140.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02056.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18969.hp1 NA18971.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19068.hp1 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0003 a0011 a0003 a0011	a0003c0002 a0011c0012 a0003c0002 a0011c0012	a0003c0002t0001 a0011c0012t0001 a0003c0002t0001 a0011c0012t0001	a0003c0002t0001g0000 a0011c0012t0001g0000 a0003c0002t0001g0000 a0011c0012t0001g0000	65	443	0.1467	310	c.39 others(321): Show c.3981_*3982insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCG GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCTTCAATTATACTTTC	TAS2R31	ENSG00000256436.1	transcript	ENST00000390675.2	protein_coding		3962		chr12	TogoVar
TAS2R31_chr12_11025387_11036407	11026424	T T	TGAAAGTA others(303): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02723.hp1 HG02809.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0000 a0003c0002t0001g0000	2	443	0.0045	310	c.39 others(321): Show c.3981_*3982insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCTTCAATTATACTTTC	TAS2R31	ENSG00000256436.1	transcript	ENST00000390675.2	protein_coding		3962		chr12	TogoVar
TBC1D1_chr4_37886084_38144173	38102274	T T	TTCTCTTT others(303): Show TTCTCTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0026 a0001c0001t0032g0026	1	310	0.0032	310	c.268 others(327): Show c.2681-717_2681-716insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTCTTTC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBCE_chr1_235362427_235457443	235376967	T T	TAAAAAAA others(303): Show TAAAAAAAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	1	268	0.0037	310	c.-31 others(327): Show c.-31-3040_-31-3039insAATCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1628529	C C	CAGGGGGT others(303): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0007 a0001c0003t0009g0007	1	352	0.0028	310	c.299 others(327): Show c.299-1104_299-1103insTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTT CCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGTTCTGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629014	G G	GGCGGGAA others(303): Show GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACA GCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGGG TGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGG ACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGG GGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0064 a0002c0001t0064	a0002c0001t0064g0053 a0002c0001t0064g0053	1	352	0.0028	310	c.299 others(327): Show c.299-1589_299-1588insTCCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTC TGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCACC CTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCT GTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TGTATACA others(303): Show TGTATACATATATACACACACATATGTATACATATACACACACACACATA TGTATACATATATACACACACACATATGTATACATATATACACACATATG TATACATATATACACACACATGTATACATATATACACACACATATATGTA TACATATATACACACACATATATGTATACATATATACACACACATATGTA TACATATATACACACACATATATGTATACATATATACACACACATATGTA TACATATATACACACACATATGTATACATATACACACACATATGTATACA TATACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0012 a0003c0025t0012	a0003c0025t0012g0212 a0003c0025t0012g0212	1	466	0.0022	310	c.122 others(327): Show c.1222+838_1222+839insGTATACATATATACACACACATATGTAT ACATATACACACACACACATATGTATACATATATACACACACACATATGT ATACATATATACACACATATGTATACATATATACACACACATGTATACAT ATATACACACACATATATGTATACATATATACACACACATATATGTATAC ATATATACACACACATATGTATACATATATACACACACATATATGTATAC ATATATACACACACATATGTATACATATATACACACACATATGTATACAT ATACACACACATATGTATACATATACACACAC	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8			chr22	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TGTATACA others(303): Show TGTATACATATATACACACACATATGTATACATATACACACACACATATG TATACATATATACACACACACATATGTATACATATATACACACATATGTA TACATATATACACACACATATGTATACATATATACACACACATATATGTA TACATATATACACACACATATATGTATACATATATACACACACATATGTA TACATATATACACACACATATATGTATACATATATACACACACATATGTA TACATATATACACACACATATGTATACATATACACACACATATGTATACA TATACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0210 a0003c0003t0004g0210	1	466	0.0022	310	c.122 others(327): Show c.1222+838_1222+839insGTATACATATATACACACACATATGTAT ACATATACACACACACATATGTATACATATATACACACACACATATGTAT ACATATATACACACATATGTATACATATATACACACACATATGTATACAT ATATACACACACATATATGTATACATATATACACACACATATATGTATAC ATATATACACACACATATGTATACATATATACACACACATATATGTATAC ATATATACACACACATATGTATACATATATACACACACATATGTATACAT ATACACACACATATGTATACATATACACACAC	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8			chr22	TogoVar
TDRD1_chr10_114174353_114237666	114201607	T T	TAGAAGTT others(303): Show TAGAAGTTACTTTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	304	0.0033	310	c.635 others(325): Show c.635+109_635+110insTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAGAAGTTACTTTTTCTT	TDRD1	ENSG00000095627.10	transcript	ENST00000695399.1	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr10	TogoVar
TERT_chr5_1248167_1300068	1273084	A A	ACACATCA others(303): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCACCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACA GTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCA TCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	392	0.0026	310	c.228 others(327): Show c.2287-805_2287-804insGTGACTGTGGATGGCGGTTGTGGGGGTC TGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273120	A A	ACATCAGA others(303): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	392	0.0026	310	c.228 others(327): Show c.2287-841_2287-840insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar

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Search Results (Total: 10000 hits)