JoGo: Joint Open Genome and Omics Platform

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
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGG others(295): Show GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGG AGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAG GGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp2 NA20752.hp1 HG00735.hp1 HG01361.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0027 a0001c0001t0014 a0001c0001t0027	a0001c0001t0014g0069 a0001c0001t0027g0131 a0001c0001t0027g0159 a0001c0001t0014g0069 a0001c0001t0027g0131 a0001c0001t0027g0159	3	188	0.0160	302	c.229 others(321): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(295): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATATGTACACATATA TATACACATATATATGTACACATATATATACATATATATGTACACATATA TATACACATATATATGTACACACATATATACACATATATATGTACACACA TATATACACATATATATGTACACACATATATACACATATATATGTACACA CAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0176 a0002c0002t0002g0176	1	418	0.0024	302	c.167 others(319): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATATGTACACATATATATACACATATATATGTACACATATATATACAT ATATATGTACACATATATATACACATATATATGTACACACATATATACAC ATATATATGTACACACATATATACACATATATATGTACACACATATATAC ACATATATATGTACACACATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(295): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACACATATATATGTACACATATATATACACATATATGTACACATA TATATACACATATATATGTACACATATATATATACATATATATGTACACA TAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0181	1	418	0.0024	302	c.167 others(319): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATATATACAC ATATATGTGTACACATATATATACACATATATATGTACACATATATATAC ACATATATGTACACATATATATACACATATATATGTACACATATATATAT ACATATATATGTACACATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(295): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACACATATATGTACACATATATATACACATATATATGTACACATA TATATACACATATATATGTACACATATATATACACATATATATGTACACA TAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0166 a0002c0002t0002g0166	1	418	0.0024	302	c.167 others(319): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATATATACAC ATATATGTGTACACATATATATACACATATATGTACACATATATATACAC ATATATATGTACACATATATATACACATATATATGTACACATATATATAC ACATATATATGTACACATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(295): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACACATATATGTGTACACATATATATACACATATATGTGTACACA TATATATACATATATATGTACACATATATATATACATATATATGTACACA TAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	418	0.0024	302	c.167 others(319): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATATATACAC ATATATGTGTACACATATATATACACATATATGTGTACACATATATATAC ACATATATGTGTACACATATATATACATATATATGTACACATATATATAT ACATATATATGTACACATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM7_chr3_6856115_7746533	7497058	T T	TAAGATTT others(295): Show TAAGATTTACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0054 a0001c0004t0003g0054	1	80	0.0125	302	c.151 others(323): Show c.1515+35346_1515+35347insCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGATTTACC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(295): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCCCCCCTCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	290	0.0035	302	c.427 others(319): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCCTCCTCCCCCCCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCCTC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169680	T T	TGTATATT others(295): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATAATATACAATATATTATATAATATATAATATAC AATATATTATATAATATATAATATACAATATATTATATAATATATAATAT ACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	384	0.0026	302	c.-34 others(317): Show c.-34-790_-34-789insGTATATTATATAATATATTGTATATTATAT AATATATTGTATATTGTATATTATATATAATATATTGTATATTATATATA ATATATTGTATATTATATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATATTATATAATATATTGTATATTATATAATATATTG TATATTATATATTATATAATATATTGTATATTATATAATATACAATATAT TATATAATATATAATATACAATATATTATATAATATATAATATACAATAT ATTATATAATATATAATATACA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTPBP6_chrX_299759_323796	322498	A A	AAAAAAAA others(295): Show AAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0080 a0003c0004t0002g0080	1	155	0.0065	302	c.-37 others(313): Show c.-3712_-3711insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCCGGCTAATTTTTTTCTTT TTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTT TTTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3703		chrX	TogoVar
GULP1_chr2_188286874_188600926	188298290	T T	TCTCACGC others(295): Show TCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	162	0.0062	302	c.-17 others(321): Show c.-172+6124_-172+6125insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(295): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	410	0.0024	302	c.-43 others(313): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACD2_chr3_123486554_123590053	123490418	G G	GAAAAAGC others(295): Show GAAAAAGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00558.hp2 others(58): Show HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00673.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp1 HG01496.hp2 HG01516.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02738.hp2 HG03669.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18973.hp2 NA18974.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp1 NA19091.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0009 a0001c0002t0001 a0001c0002t0009 others(6): Show a0001c0001t0009 a0001c0002t0001 a0001c0002t0009 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0003t0009 a0002c0005t0001	a0001c0001t0009g0138 a0001c0002t0001g0001 a0001c0002t0001g0009 others(57): Show a0001c0001t0009g0138 a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0009g0086 a0001c0002t0020g0056 a0001c0002t0022g0018 a0001c0002t0023g0058 a0001c0003t0001g0314 a0001c0003t0001g0328 a0001c0003t0009g0267 a0002c0005t0001g0341	61	350	0.1743	302	c.44 others(313): Show c.4469_*4470insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTGGCTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding		1135		chr3	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TATTTTAT others(295): Show TATTTTATTTTATTTTATTTTTTTATTTTATTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0243 a0002c0002t0002g0243	1	394	0.0025	302	c.41- others(317): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAATA AAAAAATAAAATAAAATAAAAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(295): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCC TCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	330	0.0030	302	c.124 others(317): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG CCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322422	T T	TATGGAAT others(295): Show TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATATGTGGAATATATATATGGAATATATATATAT GTGGAATATATATATGGAATATATATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGA ATATGTGTATATGGAATATATACATGGAATATGTGTATATGGAATATATA CATGGAATATATATATGGAATATATACATGGAATATATATATGGAATATA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	302	c.-26 others(313): Show c.-2634_-2633insATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATATGTGGAATATATATAT GGAATATATATATATGTGGAATATATATATGGAATATATATATGGAATAT ATACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATG GAATATATACATGGAATATGTGTATATGGAATATATACATGGAATATGTG TATATGGAATATATACATGGAATATATATATGGAATATATACATGGAATA TATATATGGAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2547		chr21	TogoVar
IL19_chr1_206765773_206847981	206792763	G G	GTACCTCT others(295): Show GTACCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGGGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	366	0.0027	302	c.-14 others(321): Show c.-148-6088_-148-6087insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCT GCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCC CTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCT TCCTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAAT ATGCGGTGTTTGGTTTTACCTCTCTT	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(295): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCC CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02155.hp2 NA18947.hp2 others(1): Show HG00639.hp1 HG02155.hp2 NA18947.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	4	376	0.0106	302	c.-43 others(311): Show c.-430_-429insGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGAGGA CAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGG TCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(295): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCC CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	302	c.-43 others(311): Show c.-430_-429insGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGAGGA CAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGG TCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
IQSEC3_chr12_61767_183455	103599	T T	TGGGGCTC others(295): Show TGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGG GGAGGTGGGGGCTCAGGAGGGGAGGTGGGGCTCAGGAGGGAGAGGTGGAG TTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAG GCAGGGCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGA GGGAGAGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGA GTTCGGTGGGGAGGCAGGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGA GGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0103 a0001c0007t0001g0103	1	282	0.0036	302	c.623 others(319): Show c.623+4412_623+4413insGGTGGGGAGGCAGGGCTCAGGGGGAGGT GGGGGCTCAGGAGGGGAGGTGGGGCTCAGGAGGGAGAGGTGGAGTTCAGG GGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGG CTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGAGA GGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGG TGGGGAGGCAGGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGG GCTCAGGAGGGAGAGGTGGAGTTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KALRN_chr3_124028369_124731325	124110027	G G	GATATATA others(295): Show GATATATATATGACATATATGTCATACTTTGATATATATATGACATATAT GTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATATA TGACATATATGTCATACTTTGATATATATATGACATATATGTCATACTTT GATATATATATGACATATATGTCATACTTTGATATATATATGACATATAT GTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATATA TGACATATATGTCATACTTTGATATATATATGACATATATGTCATACTTT GAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0009 a0001c0065t0009	a0001c0065t0009g0093 a0001c0065t0009g0093	1	116	0.0086	302	c.73+ others(319): Show c.73+76222_73+76223insATGACATATATGTCATACTTTGATATAT ATATGACATATATGTCATACTTTGATATATATATGACATATATGTCATAC TTTGATATATATATGACATATATGTCATACTTTGATATATATATGACATA TATGTCATACTTTGATATATATATGACATATATGTCATACTTTGATATAT ATATGACATATATGTCATACTTTGATATATATATGACATATATGTCATAC TTTGATATATATATGACATATATGTCATACTTTGATATATATATGACATA TATGTCATACTTTGATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	21532949	T T	TAAAAGCT others(295): Show TAAAAGCTAATTAATTAAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02630.hp2 others(1): Show HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0002t0006	a0001c0001t0001g0022 a0001c0001t0007g0046 a0001c0001t0011g0003 others(1): Show a0001c0001t0001g0022 a0001c0001t0007g0046 a0001c0001t0011g0003 a0001c0002t0006g0053	4	80	0.0500	302	c.61+ others(321): Show c.61+415621_61+415622insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTTAATTAATTAGCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21532949	T T	TAAAAGCT others(295): Show TAAAAGCTAATTAATTAAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAAAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0007 a0001c0005t0003g0007	1	80	0.0125	302	c.61+ others(321): Show c.61+415621_61+415622insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCA GCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTTAATTAATTAGCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178757996	T T	TCCAAGAG others(295): Show TCCAAGAGGATATATATATATATCTCCAAGAGGATATATATATATACACA AGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAG AGGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	232	0.0043	302	c.-67 others(321): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATATATCC AAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATAT ATATATATATATATATATCCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758172	A A	ATATATAT others(295): Show ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	232	0.0043	302	c.-67 others(321): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATATCTATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758215	G G	GATATATA others(295): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATCTATATATATCCAAGAG GAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	232	0.0043	302	c.-67 others(321): Show c.-67-49110_-67-49109insATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATAT ATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATATATATATATATCCAAGAGGATATATATCTATATATATCC AAGAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(295): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCT GTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCC GCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18952.hp2 NA19004.hp2 HG03453.hp2 NA18952.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0009 a0001c0002t0005 a0001c0016t0044 a0001c0001t0009 a0001c0002t0005 a0001c0016t0044	a0001c0001t0009g0120 a0001c0002t0005g0040 a0001c0016t0044g0128 a0001c0001t0009g0120 a0001c0002t0005g0040 a0001c0016t0044g0128	3	160	0.0188	302	c.135 others(321): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTC ACTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL23_chr2_169728832_169756878	169749968	T T	TATATGTG others(295): Show TATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACG TATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATA TGTGTATATATACGTATGTATGTATACATATATGTGTATATATACGTATG TATACATATATGTGTATATATACGTATGTATACATATATGTGTATATATA CGTATGTATGTATACATATATGTGTATATATACGTATGTATACATATATG TGTATATATACGTATGTATGTATACATATATGTGTATATATACGTATGTA TAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG03486.hp1 HG02559.hp1 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0069 a0001c0001t0030g0070 a0001c0001t0030g0071 a0001c0001t0030g0069 a0001c0001t0030g0070 a0001c0001t0030g0071	3	400	0.0075	302	c.24 others(311): Show c.240_*241insGTGTATATATACGTATGTATGTATACATATATGTGT ATATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGT ATACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATAT ATACGTATGTATACATATATGTGTATATATACGTATGTATACATATATGT GTATATATACGTATGTATGTATACATATATGTGTATATATACGTATGTAT ACATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATAT ACGTATGTATACATAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	241	INFO_REALIGN_3_PRIME	chr2	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(295): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18974.hp1 NA19074.hp1 others(1): Show NA18939.hp2 NA18974.hp1 NA19074.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0319 a0001c0001t0003g0339 others(1): Show a0001c0001t0003g0296 a0001c0001t0003g0319 a0001c0001t0003g0339 a0001c0001t0003g0345	4	400	0.0100	302	c.997 others(319): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LEPR_chr1_65415668_65646559	65590243	T T	TAAAATTA others(295): Show TAAAATTATTCATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0197 a0003c0005t0007g0197	1	216	0.0046	302	c.495 others(319): Show c.495-2399_495-2398insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTC TCAAAAAAAAAAATTATTCATATT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LIN28B_chr6_104952107_105088332	105023528	T T	TTATATAT others(295): Show TTATATATATATTATATAATATATATAATTATATTATATATATATTATAT AATATATATAATTATATTATATATATATTATATAATATATATAATTATAT TATATATATATTATATAATATATATAATTATATTATATATATATTATATA ATATATATAATTATATTATATATATATTATATAATATATATAATATATAT AAAATATATATAATATATAACCTATATATATTATATATAATATATAATAT ATATTATATATTTTATATATTTTATATATATAATATATATTATATATTTT ATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	278	0.0036	302	c.199 others(319): Show c.199-2764_199-2763insTATATTATATAATATATATAATTATATT ATATATATATTATATAATATATATAATTATATTATATATATATTATATAA TATATATAATTATATTATATATATATTATATAATATATATAATTATATTA TATATATATTATATAATATATATAATTATATTATATATATATTATATAAT ATATATAATATATATAAAATATATATAATATATAACCTATATATATTATA TATAATATATAATATATATTATATATTTTATATATTTTATATATATAATA TATATTATATATTTTATATATATA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088932	G G	GGAGGCCA others(295): Show GGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAG GGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGGTCTGTGCAG AGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 others(28): Show HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01433.hp2 HG01496.hp1 HG02071.hp1 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG02559.hp2 HG02602.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18942.hp1 NA18981.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0002 a0001c0001t0001 a0001c0001t0002 a0003c0004t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0003c0004t0002g0007 a0001c0001t0001g0001 a0001c0001t0002g0002 a0003c0004t0002g0007	31	102	0.3039	302	c.-47 others(313): Show c.-4714_-4713insACTCTGCACAGACCCTGGCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTTCACAGATC CTGGCCACTCTGCACAGATCCTGGCCTCCTTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCTC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4535		chr20	TogoVar
LMF1_chr16_848634_975984	857984	C C	CGTGGTGT others(295): Show CGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGT GGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGG TGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTC TCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTG TGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0001 a0002c0052t0001	a0002c0052t0001g0018 a0002c0052t0001g0018	1	294	0.0034	302	c.153 others(321): Show c.1530-3279_1530-3278insTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGA GACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGAC ACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGTGACAC CACGCACACCCGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858006	G G	GCGTGGTG others(295): Show GCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGG TGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGATGGGTG TGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0275 a0001c0033t0001g0275	1	294	0.0034	302	c.153 others(321): Show c.1530-3301_1530-3300insGCACACCCATCCCGTGACACCACGCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTGCACACCCATCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859104	G G	GAGTGGTG others(295): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGCAGTGATGTCACGGGACGGGTGTGCAGTGA TGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGA CGGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp2 HG02280.hp1 HG02818.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0007 a0004c0025t0007	a0004c0025t0007g0259 a0004c0025t0007g0294 a0004c0025t0007g0259 a0004c0025t0007g0294	2	294	0.0068	302	c.153 others(321): Show c.1530-4399_1530-4398insACACCCGTCCCGTGACACCACTCACA CCCGTCCCGTGACATCACTCACACCCGTCCCGTGACACCACTGCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACATCACTGCACACCCGTCCCGTGAC ATCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513804	G G	GAGGGGTC others(295): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	414	0.0024	302	c.-43 others(313): Show c.-4349_-4348insAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4187		chr8	TogoVar
MAD1L1_chr7_1810795_2237945	1930295	C C	CCCCACTG others(295): Show CCCCACTGCCACATCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTACT GCCACGTCCCCACTGCCCCGTCCCCTCGCCCCGTCCCCACTGCCACAACC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCAC GTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTG CCACGTCCCCTCGCCCCGTCCCCACTGCCACATCCCCTCGCCCCGTCCCC CACTGCCACGTCCCCTACTGCCACGTCCCCACTGCCCCGTCCCCTCGCCC CGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG04115.hp1 HG04199.hp2 HG01069.hp1 HG04115.hp1 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0099 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0099	3	264	0.0114	302	c.180 others(321): Show c.1807+6391_1807+6392insACGGGGCGAGGGGACGGGGCAGTGGG GACGTGGCAGTAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGATGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGTTGTGGCAGTGGGGACGGGGC GAGGGGACGGGGCAGTGGGGACGTGGCAGTAGGGGACGTGGCAGTGGGGG ACGGGGCGAGGGGATGTGGCAGTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996271	C C	CCCCCCGG others(295): Show CCCCCCGGGTCTATACACAGCTCCTGGGCGGGCAGGGTCCCCCGGGTTTA CACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACAGCTCCT GGGCATGCAGGGTCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGT CCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTC TACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTC CTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCATGCAG GGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	264	0.0038	302	c.141 others(321): Show c.1416+5793_1416+5794insACCCTGCATGCCCAGGAGCCGTGTGT AGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTG TGTAGACCCGGGGGACCCTGCATGCCCAGGAGCTGTGTGTAGACCCGGGG GGACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGC CCAGGAGCTGTGTATAGACCCGGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238498	A A	ATTATATA others(295): Show ATTATATATTATATATATTATACATTATATATAATGTATATTATATATTA TATATATTATACATTATATATAATGTATAATATATATTATATATAATATA CATTATATATAATGTATAATATATATTATATATTATACATTATATATAAT GTATAATATATATTATATATAATATACATTATATATAATGTATAATATAT ATTATATAATATACATAATGTATATTATATATAATATACATAATGTATAT TATATATAATATACATAATGTATATTATATATAATATACATAATGTATAT TAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03209.hp2 HG01081.hp2 HG03209.hp2	a0012 a0043 a0012 a0043	a0012c0041 a0043c0091 a0012c0041 a0043c0091	a0012c0041t0004 a0043c0091t0002 a0012c0041t0004 a0043c0091t0002	a0012c0041t0004g0063 a0043c0091t0002g0064 a0012c0041t0004g0063 a0043c0091t0002g0064	2	152	0.0132	302	c.299 others(323): Show c.2992-19186_2992-19185insTTATATATTATATATATTATACAT TATATATAATGTATATTATATATTATATATATTATACATTATATATAATG TATAATATATATTATATATAATATACATTATATATAATGTATAATATATA TTATATATTATACATTATATATAATGTATAATATATATTATATATAATAT ACATTATATATAATGTATAATATATATTATATAATATACATAATGTATAT TATATATAATATACATAATGTATATTATATATAATATACATAATGTATAT TATATATAATATACATAATGTATATTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39			chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396715	C C	CATATATA others(295): Show CATATATATATATTCATATATAGATTCATATATATATTCATATATAGATT CATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATT CAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	191	0.0052	302	c.343 others(319): Show c.343-4382_343-4381insATGAATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATCTATATATGAATATAT ATGAATCTATATATGAATATATATGAATCTATATATGAATATATATATGA ATCTATATATGAATATATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(295): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTATATATGTACATATATGTATATATG TATATATGTATATATGTACATATATGTATATATGTATATATGTACATATA TACATATATGTACATATATGTATATATGTACATATATACATATATGTACA TATATGTATATATGTACATATGTACATATATGTACATATGTACACATGTA CATATGTACATATGTACACATGTACACATGTACATATATGTACATATATG TAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0113 a0004c0019t0003g0113	1	160	0.0063	302	c.627 others(319): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATGT GTACATGTGTACATATGTACATATGTACATGTGTACATATGTACATATAT GTACATATGTACATATATACATATATGTACATATATGTATATATGTACAT ATATACATATATGTACATATATGTATATATGTACATATATACATATATAC ATATATGTACATATATACATATATACATATATACATATATGTACATATAT ACATATATACATATATACATATATGTACATATATACATATATACATATAT ACATATATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MED16_chr19_862963_898187	873127	G G	GGGGGAGG others(295): Show GGGGGAGGGCTCCGAGGGAGGGGAGGGCTCCGAGGGAGGGGAGGGCTCCG AGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGC TCCGAGGTGGGGGAGGGCTCCGAGGTGGGGCAGGGCTCCGAGGTGGGGGA GGGCTCCGAGGGAGGGGAGGGCTCCGTGGAGGGAGGGCTCCGAGGTGGGG GAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGT GGGGGAGGGACGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAG GGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	56	0.0179	302	c.190 others(319): Show c.1905+321_1905+322insTCCCTCGGAGCCCTCCCCCACCTCGGAG CCCTCCCCCACCTCGTCCCTCCCCCACCTCGGAGCCCTCCCCCACCTCGG AGCCCTCCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCTCCAC GGAGCCCTCCCCTCCCTCGGAGCCCTCCCCCACCTCGGAGCCCTGCCCCA CCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCC CCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCCTCCCTCGGAGCC CTCCCCTCCCTCGGAGCCCTCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
METTL16_chr17_2411049_2516888	2448182	G G	GGCCGCCC others(295): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGATGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGC CCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0217 a0001c0001t0031g0217	1	298	0.0034	302	c.729 others(319): Show c.729-6624_729-6623insTGGGCAGAAGCGCCCCTCACCTCCCGGA TGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCATCCTCCCAGAC GGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCC CCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGC	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9			chr17	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(295): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTG AGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	302	c.26 others(312): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTG GGCGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(295): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTGTATATATGT ATATATATGTATATATATGTATATATATATGTGTATATATATGTATATAT ATGTATATATATGTGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATATGTATATATATATGTATATATATGTATATATATATGTATATATAT ACG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0183 a0003c0004t0002g0183	1	410	0.0024	302	c.484 others(317): Show c.484-660_484-659insCGTATATATATACATATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATACA TATATATACATATATATACATATATATACATATATATACATATATATACA TATATATACACATATATATACATATATATACATATATATACACATATATA TATACATATATATACATATATATACATATATACACATATATATACATATA TATACATATATATACATATATATACATATATATATACATATATATATACA TATATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(295): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTGTATATATGT ATATATATGTATATATATGTATATATATATGTGTATATATATGTATATAT ATGTATATATATGTGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATATGTATATATATATGTATATATATGTATATATATATGTATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02080.hp2 HG02040.hp1 HG02080.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0039 a0003c0004t0002g0039	2	410	0.0049	302	c.484 others(317): Show c.484-660_484-659insCATATATATATACATATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATACA TATATATACATATATATACATATATATACATATATATACATATATATACA TATATATACACATATATATACATATATATACATATATATACACATATATA TATACATATATATACATATATATACATATATACACATATATATACATATA TATACATATATATACATATATATACATATATATATACATATATATATACA TATATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSLN_chr16_755734_773862	767928	A A	AGCGTGGG others(295): Show AGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGG GGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCG TGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGG GGCGCATGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGG GGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGCATGGGG GGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0009 a0005c0005t0001g0009	2	388	0.0052	302	c.159 others(319): Show c.1597-451_1597-450insGCGTGGGGGGCGTGGAGGAGGGGCGCGT GGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGG GGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAG GGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGAGGGGCG CGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGG CGCGTGGGGGGGTGCATGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(295): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGCGGCGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGT GGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAG TGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTG TTC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0061 a0001c0001t0071g0061	1	384	0.0026	302	c.160 others(319): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACTAC TGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCACCATCACCA CCATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(295): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGT GGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAG TGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTG TTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0213 a0001c0001t0036g0213	1	384	0.0026	302	c.160 others(319): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCAC CACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(295): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGT GGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAG TGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTG TTC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	384	0.0026	302	c.160 others(319): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCACCACCAT CACCACCACCACCATCACCACCACCACCATCGCCGCCACCACCACCACCA CCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO1B_chr2_191240404_191430386	191398197	T T	TGATCCCC others(295): Show TGATCCCCCCACCTCCCTTCTGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	170	0.0059	302	c.229 others(321): Show c.2295+1712_2295+1713insTCCCTTCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCAGGCGGGGGGCCGATCCCCCCACC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)