Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FLT4_chr5_180596506_180654600	180615704	T T	TTCCTTTC others(480): Show TTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTT TCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAG CACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGG GCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGC CGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTC ACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCC CCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCG GTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACC TCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTT CTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	292	0.0034	487	c.321 others(504): Show c.3219+662_3219+663insGGTGACCGGCAGGCCCAGTGCTCCGAAA GGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGG TGACCGGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGA GAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGG GAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTG ACCGGCAGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGC AGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCAGGCCC AGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCT CCGAAAGGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180616090	G G	GGCCTGCC others(480): Show GGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGG AGCACTGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACT TCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGA AATCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCC ACTTCCTTTCGGAACACTGTGGCCCCGCTGGTCAACTCCCATCTCCACTT CCGAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTT CTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCA CTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCC GAAATCCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCT CCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0057 a0002c0002t0004g0057	1	89	0.0112	487	c.321 others(504): Show c.3219+276_3219+277insGCCCCAGTGCTCCGAAAGACAGTGGATT TCGGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGA AGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTC CGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCGAAA GGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAG TGGATTTCGGAAGTGGAGATGGGAGTTGACCAGCGGGGCCACAGTGTTCC GAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAG GAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGC TCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGG CCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGGTGA CCGGCAGGC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGAGGGG others(480): Show CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCA GTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	242	0.0041	487	c.157 others(502): Show c.1576+54_1576+55insGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTAGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586258	G G	GGGGGAAA others(480): Show GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAG GAGGAGAATGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGA GGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0023 a0009c0019t0023	a0009c0019t0023g0019 a0009c0019t0023g0019	1	285	0.0035	487	c.157 others(502): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAAGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCGGGGGGGAAAGGAGGAGAATGGAGACCACAGGGAGGTCAAAGGTAG GCGGAGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGC CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC AGTGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586401	C C	CAGTGGGG others(480): Show CAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0039 a0001c0001t0001g0049	2	228	0.0088	487	c.157 others(504): Show c.1576+201_1576+202insAGTGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGA GGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAA AGGTGGGCA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586451	G G	GGGGGGAA others(480): Show GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGA GGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0126 a0001c0001t0003g0129	2	265	0.0075	487	c.157 others(504): Show c.1576+256_1576+257insAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTAGGCGGAGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(480): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATATAGTATATATACACTATA TATATAGTATATATACACTATATATATAGTATATATACACTATATATATA GTATATATACACTATATATATAGTATATATACACTATATATACACTATAT ATGTATATATATACATATATAGTGTATATATAGTGTATATATACACTGTA TATGTATATATAGTGTATATATACACTATATATACACTGTATATGTATAT ATAGTGTATATATACACTATACATACACTGTATATGTATATATAGTGTAT ATATACACTATACACTGTATATGTATATATAGTGTATATATACACTATAC ACTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTAT ATATAGTGTATATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	150	0.0067	487	c.114 others(506): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATGTATAGTGTA TATATACACTATATATACATATACAGTGTATATATAGTGTATATATACAC TATATATACATATACAGTGTATATATACACTATATATACACTATATATGT ATATATATACATATATAGTGTATATATAGTGTATATATACTATATATATA GTGTATATATACTATATATATAGTGTATATATACTATATATATAGTGTAT ATATACTATATATATAGTGTATATATACTATATATATAGTGTATATATAC TATATATAGTGTATATATACTATACATATATAGTGTATATATAGTGTATA TATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241805361	A A	ACCCTCCC others(480): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTGCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAAC CCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	288	0.0035	487	c.11 others(498): Show c.1195_*1196insCCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTGCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCC TCCCTCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1075		chr2	TogoVar
GJA9_chr1_38869069_38886587	38870012	C C	CAAAAAAA others(480): Show CAAAAAAAATTAGCCGGGGGTCTCCGGTCCGTGCCTCCAAGATGACAAAG AAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCC TATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTA AGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATT TCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAA GCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATC GATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCT GCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTT CTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT GTACTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18979.hp1 NA19064.hp1 others(1): Show NA18952.hp2 NA18979.hp1 NA19064.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0003 a0001c0001t0002g0007	4	436	0.0092	487	c.45 others(498): Show c.4538_*4539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAA GTACAATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGTCTT TAAGAACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAGCAC CCGCAGGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCACGA GATCGATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGTAATG TAGCTTCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCGCTT CAGAAATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACGAAT TTCTTAATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCAGCG AATAGGCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCCTTC TTTTCTTTGTCATCTTGGAGGCACGGACCGGAGACCCCCGGCTAATTTTT TTT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		4056		chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTCC others(480): Show TCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCC TCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCC TTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCC TCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTC CCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTT CCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCC CCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCT TCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0108 a0001c0006t0017g0108	1	223	0.0045	487	c.972 others(502): Show c.972+262_972+263insCCTTCCCCCTCCCCTCCTTCCCCCTCCCCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTC CCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCT CCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCT CCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCC CCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCC CATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCT TCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCC ACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTT CCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCT TCCCCCT	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(480): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATATAGTTATATATTATATACATGTATATAACATA TAGTTATATATTATATACATGTATATAACATATAGTTATGTATATTATAT ACATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATA TAGTTATGTATATTATATACATGTATATAACATATAGTTATGTATATTAT ATACATGTATATAACATATAGTTATGTATATTATATACATGTATATAACA TATAGTTATGTATATTATATACATGTATATAACATATAGTTGTGTATATT ATATACATGTATATAACATATAGTTATGTATATTATATACATGTATATAA CATATAGTTATGTATATTATATACATGTATATAACATAGTTATATACATA TAACTATATGTATATAATATATAGTACATGTATATAAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03704.hp1 HG03017.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0013 a0002c0011t0013 a0001c0001t0013 a0002c0011t0013	a0001c0001t0013g0032 a0002c0011t0013g0031 a0001c0001t0013g0032 a0002c0011t0013g0031	2	153	0.0131	487	c.183 others(506): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTAT ATACATGTATATAATATACACAACTATATGTTATATACATGTATATAATA TACATAACTATATGTTATATACATGTATATAATATACATAACTATATGTT ATATACATGTATATAATATACATAACTATATGTTATATACATGTATATAA TATACATAACTATATGTTATATACATGTATATAATATACATAACTATATG TTATATACATGTATATAATATACATAACTATATGTTATATACATGTATAT AATATATAACTATATGTTATATACATGTATATAATATATAACTATATGTT ATATACATGTATATAATATATAACTATATGTTATATACATGTATATAATA TATAACTATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
IL1RAPL2_chrX_104561199_105772829	105118002	T T	TAGAAATA others(480): Show TAGAAATAAACTCTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTAT TATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTA GCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCAC CACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCAT TGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTT CTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCT ACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGT GTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGG GTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	141	0.0071	487	c.83- others(504): Show c.83-77459_83-77458insTTTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA TAAACTCTT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(480): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAA GGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	154	0.0065	487	c.290 others(506): Show c.2908-3810_2908-3809insCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCC TCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCC TCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GAGGGGCA others(480): Show GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAC GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	13	0.0769	487	c.978 others(504): Show c.978-2483_978-2482insAGGGGCAGGGAGGAGAGATGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAG AGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAG GGGCAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(480): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0060	1	2	0.5000	487	c.957 others(504): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
LHPP_chr10_124456823_124619141	124507406	A A	AGGGTAGG others(480): Show AGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAG GGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	172	0.0058	487	c.624 others(504): Show c.624+9302_624+9303insGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGA GGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN1B1_chr9_137081985_137114183	137102782	G G	GGTTACAT others(480): Show GGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACATTCACACT TGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCG TGCAGGTCGGTGGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTT ACACACATTCACAGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACTCAC ACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGC AGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGG TGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTC ACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACGCTGTTGCAGGCGT GCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGG TGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0128 a0002c0003t0002g0128	1	404	0.0025	487	c.125 others(506): Show c.1254+1112_1254+1113insTACATTCACACTGTTGCAGGCGTGCA GGTTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACAC ACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTTACATTCACACTGTT GCAGGCGTGCAGGTTGGTGTTACACACATTCACAGTTGCAGGCGTGCAGG TCAGTGGTGTTACACACTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGT TACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACTGT TGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTG CAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCT GTTACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGT TGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCG TGCAGGTCAGT	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MBD3L3_chr19_7051207_7063676	7061820	C C	CTATATAG others(480): Show CTATATAGAATATAATTATATAATATATAATTATATTATATATTATATAA TTATAATATAATTATATAATATAATTATATTATATATAATTATATTAAAC ATATTATATAATATATAATTATATTATATATTATATAATCTATAATTATA TTATATATTATATAATATATAATTATATTATATATTATATAATATATAAT TATGTTATATATTATAATACATTTAATATAATTATATTATAGATTATAAT CTATAATATAATTATATTAATAGTATTATAATATATAATATATTATATAT AATTATATTATAACTTATTATATATAATTATATTATAGATCATAATCTAT AATATAATTATATATAATATGTTATAATATATAATTATATTCTATATATA ATTATATATAATATAATTATATTCTATATATAATATAATTATATATAATT ATATTCTATATATAATATAATTATATATAATTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18946.hp1 HG01891.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	286	0.0070	487	c.-32 others(498): Show c.-3216_-3215insTAATATAATTATATATAATTATATTATATATAGA ATATAATTATATATAATTATATTATATATAGAATATAATTATATTATATA TAATTATATATAGAATATAATTATATATTATAACATATTATATATAATTA TATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAATAT AATTATATATAATATATTATATATTATAATACTATTAATATAATTATATT ATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATATAA CATAATTATATATTATATAATATATAATATAATTATATATTATATAATAT ATAATATAATTATAGATTATATAATATATAATATAATTATATATTATATA ATATGTTTAATATAATTATATATAATATAATTATATTATATAATTATATT ATAATTATATAATATATAATATAATTATATATTATATAATTATATTCTAT ATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3145		chr19	TogoVar
MYCBP_chr1_38857493_38878348	38870012	C C	CAAAAAAA others(480): Show CAAAAAAAATTAGCCGGGGGTCTCCGGTCCGTGCCTCCAAGATGACAAAG AAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCC TATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTA AGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATT TCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAA GCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATC AATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCT GCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTT CTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT GTACTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	417	0.0024	487	c.89- others(502): Show c.89-2403_89-2402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTAAGTACAATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAG TCTTTAAGAACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCA GCACCCGCAGGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTC ACGAGATTGATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGT AATGTAGCTTCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTC GCTTCAGAAATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGAC GAATTTCTTAATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGC AGCGAATAGGCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTC CTTCTTTTCTTTGTCATCTTGGAGGCACGGACCGGAGACCCCCGGCTAAT TTTTTTT	MYCBP	ENSG00000214114.9	transcript	ENST00000397572.5	protein_coding	2/4			chr1	TogoVar
MYCBP_chr1_38857493_38878348	38870012	C C	CAAAAAAA others(480): Show CAAAAAAAATTAGCCGGGGGTCTCCGGTCCGTGCCTCCAAGATGACAAAG AAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCC TATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTA AGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATT TCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAA GCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATC GATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCT GCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTT CTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT GTACTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18941.hp2 NA18952.hp2 others(3): Show HG00544.hp1 NA18941.hp2 NA18952.hp2 NA18979.hp1 NA19064.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0176 others(1): Show a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0176 a0001c0001t0003g0190	6	422	0.0142	487	c.89- others(502): Show c.89-2403_89-2402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTAAGTACAATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAG TCTTTAAGAACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCA GCACCCGCAGGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTC ACGAGATCGATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGT AATGTAGCTTCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTC GCTTCAGAAATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGAC GAATTTCTTAATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGC AGCGAATAGGCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTC CTTCTTTTCTTTGTCATCTTGGAGGCACGGACCGGAGACCCCCGGCTAAT TTTTTTT	MYCBP	ENSG00000214114.9	transcript	ENST00000397572.5	protein_coding	2/4			chr1	TogoVar
MYDGF_chr19_4652545_4675342	4663507	T T	TCCACCCA others(480): Show TCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCAC CCCATCCTCATTCTACAGCCTCCAACCTGTGCACTCTCCACCCACCCCAT CCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCT ACAGCCTCCAACCTGTGCACTCTCCACCCACCCCATCCTCATTCTACACA GCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTC CAATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATC TACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCC TCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCC ACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCA CCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	386	0.0026	487	c.287 others(504): Show c.287+1368_287+1369insGGAGGGTAGATTGGAGGCTGTGTAGAAT GAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGA TGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGG TGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGT GGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGA GGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTA GATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGTGCACAGGT TGGAGGCTGTAGAATGAGGATGGGGTGGGGAGGGTAGATTGGAGGCTGTG TAGAATGAGGATGGGGTGGGTGGAGAGTGCACAGGTTGGAGGCTGTAGAA TGAGGATGGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGG GGTGGGTGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663531	C C	CACAGCCT others(480): Show CACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTACAGCCTCCA ACCTGTGCACTCTCCACCCACCCCATCCTCATTCTACACAGCCTCCAATC TACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCC TCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCC ACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCA CCCCACCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATC CTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCAT TCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTAC ACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGC CTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0066 a0002c0003t0001g0066	1	392	0.0026	487	c.287 others(504): Show c.287+1344_287+1345insAGAATGAGGGTGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGAT TGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAG GCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGT GTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAAT GAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGA TGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGG TGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGT GGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGA GTGCACAGGTTGGAGGCTGTAGAATGAGGATGGGGTGGGGAGGGTAGATT GGAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYH11_chr16_15698135_15862028	15821935	A A	AAAAAAAA others(480): Show AAAAAAAAAAAAAAAAAGAACCAGGAATGGTTCAAACAAATCATAAACAC TCCAATCCCCTCTGCCAGTGATTGCTGTAGGGGTTAGCATATGACCAAGT TTCTACCTGACTTAAAAAAAAAAGAGAGAGACACAGGGAAAGAACCTTAC CCTCCACTTCCTTCATGCTTTTGGATATTATCACATGAAAACGTGATATC TGGAACTATGGCTACCACTTTGTGACCATGAGGAAGAAGCTGAGAAAAAT CCCAAGGAAGTCAACCCTGAAATCAGCCACTAGACTTCCCGTTATGTGAG GCAATGAACTCCTACTGGTTAAGCCACTTTAGTTAGTTGTTATCTTACTT GCAACCAAAAGCACCCCAAATGATAGGAACACTGAGGTCTGTGATGCTCA GCTTCCCAAAGGTGTACACGAACCACTTTGTAAATACTCTTCCATCAAGG GACACCATAAAGAATGTGTGTGTTTGTGTGTTTAATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00621.hp1 others(34): Show HG00099.hp2 HG00423.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG01255.hp1 HG01496.hp2 HG01891.hp1 HG02135.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp2 HG03017.hp1 HG03130.hp1 HG03491.hp1 HG04199.hp1 HG04228.hp2 NA18944.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp2 NA18983.hp1 NA18993.hp1 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19055.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19084.hp1 NA20805.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0014 a0015 a0018	a0001c0002 a0001c0003 a0001c0004 others(13): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0014 a0001c0022 a0001c0038 a0001c0061 a0002c0001 a0004c0017 a0014c0045 a0015c0047 a0018c0041	a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 others(14): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0007 a0001c0009t0001 a0001c0014t0001 a0001c0022t0001 a0001c0038t0001 a0001c0061t0003 a0002c0001t0001 a0004c0017t0005 a0014c0045t0001 a0015c0047t0001 a0018c0041t0001	a0001c0002t0001g0029 a0001c0002t0001g0068 a0001c0002t0001g0071 others(34): Show a0001c0002t0001g0029 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0107 a0001c0002t0001g0150 a0001c0003t0001g0026 a0001c0003t0001g0096 a0001c0003t0001g0210 a0001c0003t0001g0292 a0001c0004t0002g0112 a0001c0004t0002g0291 a0001c0005t0001g0148 a0001c0007t0001g0025 a0001c0007t0001g0104 a0001c0007t0001g0121 a0001c0007t0001g0153 a0001c0007t0001g0256 a0001c0007t0001g0260 a0001c0008t0001g0250 a0001c0008t0001g0293 a0001c0008t0007g0088 a0001c0009t0001g0172 a0001c0009t0001g0290 a0001c0014t0001g0201 a0001c0014t0001g0247 a0001c0014t0001g0289 a0001c0022t0001g0185 a0001c0038t0001g0073 a0001c0061t0003g0212 a0002c0001t0001g0097 a0002c0001t0001g0135 a0002c0001t0001g0198 a0002c0001t0001g0211 a0004c0017t0005g0151 a0014c0045t0001g0224 a0015c0047t0001g0072 a0018c0041t0001g0037	37	289	0.1280	487	c.502 others(504): Show c.502+1319_502+1320insGTATTAAACACACAAACACACACATTCT TTATGGTGTCCCTTGATGGAAGAGTATTTACAAAGTGGTTCGTGTACACC TTTGGGAAGCTGAGCATCACAGACCTCAGTGTTCCTATCATTTGGGGTGC TTTTGGTTGCAAGTAAGATAACAACTAACTAAAGTGGCTTAACCAGTAGG AGTTCATTGCCTCACATAACGGGAAGTCTAGTGGCTGATTTCAGGGTTGA CTTCCTTGGGATTTTTCTCAGCTTCTTCCTCATGGTCACAAAGTGGTAGC CATAGTTCCAGATATCACGTTTTCATGTGATAATATCCAAAAGCATGAAG GAAGTGGAGGGTAAGGTTCTTTCCCTGTGTCTCTCTCTTTTTTTTTTAAG TCAGGTAGAAACTTGGTCATATGCTAACCCCTACAGCAATCACTGGCAGA GGGGATTGGAGTGTTTATGATTTGTTTGAACCATTCCTGGTTCTTTTTTT TTTTTTTTT	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	3/40			chr16	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(480): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	196	0.0051	487	c.-28 others(498): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATAT ATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATA TATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NXN_chr17_794310_984776	949160	C C	CCCCCCTG others(480): Show CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	238	0.0042	487	c.360 others(506): Show c.360+30158_360+30159insAGAGGAGGAGGCAGCGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR11H4_chr14_20234286_20249349	20237635	C C	CTATATAT others(480): Show CTATATATACTATACATACTATATAGTATATATAGTATATATACTATATA TACTATAGTATATATAGCATATATACTATATATACTATAGTATATATAGC ATATATGCTATATATACTATAGTATATATAGTATATATATATACTACTAT ATATATAATAGTATATATAGGATATATATATACTACTATATATAGTATAT ATAGTAGATATACTATATATACTATATAGTATATATAGTATATCTACTAT ATAGTACATATAGTATATATAGTATATCTACTATATAGTATATATACTAT ATATACTATATAGTATATATAGTATATATAGTATATATAGTATATATAGT ATATATAGTATATATACTGTATATAGTATATATACTGTATATACTGTATA TAGTATATATAGTATATATAGTATATATACTATATATAGTATATATACTA TATATAGTATATATACTATATATATGGTATATATAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	419	0.0024	487	c.-17 others(498): Show c.-1708_-1707insTATATATACTATACATACTATATAGTATATATAG TATATATACTATATATACTATAGTATATATAGCATATATACTATATATAC TATAGTATATATAGCATATATGCTATATATACTATAGTATATATAGTATA TATATATACTACTATATATATAATAGTATATATAGGATATATATATACTA CTATATATAGTATATATAGTAGATATACTATATATACTATATAGTATATA TAGTATATCTACTATATAGTACATATAGTATATATAGTATATCTACTATA TAGTATATATACTATATATACTATATAGTATATATAGTATATATAGTATA TATAGTATATATAGTATATATAGTATATATACTGTATATAGTATATATAC TGTATATACTGTATATAGTATATATAGTATATATAGTATATATACTATAT ATAGTATATATACTATATATAGTATATATACTATATATATGGTATATATA GTA	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1650		chr14	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GGACACAG others(480): Show GGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAG GGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCC GGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGC CTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAA ATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGG GGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTG AGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGG CCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACA GAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGG GACAGAGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0003 a0001c0105t0003	a0001c0105t0003g0005 a0001c0105t0003g0005	1	4	0.2500	487	c.527 others(506): Show c.5271+8664_5271+8665insGACACAGAGTGAGGGGGGACAGAGGC CTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAG AGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGG ACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGG GGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGT GAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACA GAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAA CACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGG GAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCCTCCGGA GGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTC TGGAGGGGGGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PIAS4_chr19_4002736_4044386	4011943	T T	TGGGGTGT others(480): Show TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0245 a0001c0004t0003g0245	1	325	0.0031	487	c.28- others(500): Show c.28-946_28-945insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4035959	A A	ACACCCGC others(480): Show ACACCCGCACACATCCATACAGTCCATACCATAACACACACACCCGCACA CATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATACAG TCCACACCATAACACACACACCCGCACACATCCATCCAGTCCACACCATA ACACACACACCCGCACACATCCATACAGTCCATACCATCACACACACCCA CACACATCCATACAGTCCACACCATAACACACACACCCGCACACATCCAT ACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCACAC CATAACACACACACCCGCACACATCCATACAGTCCACACCGTCTCACACA CACACCCGCACACATCCATACAGTCCACACCATAACACACACACCTGCAC ACATCCATACAGTCCACACCATCACACACACATCCATACAATCCACACCG TCACACACATCCATACAGTCCACACCATCACACACATC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	3	0.3333	487	c.114 others(506): Show c.1143-1413_1143-1412insCCCGCACACATCCATACAGTCCATAC CATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACACA CACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCACAC ATCCATCCAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCATACCATCACACACACCCACACACATCCATACAGTCCACACCATAACA CACACACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGC ACACATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATA CAGTCCACACCGTCTCACACACACACCCGCACACATCCATACAGTCCACA CCATAACACACACACCTGCACACATCCATACAGTCCACACCATCACACAC ACATCCATACAATCCACACCGTCACACACATCCATACAGTCCACACCATC ACACACATCCA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEKHG4B_chr5_87168_194966	92389	C C	CGGGTGGG others(480): Show CGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGT GGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTG GGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGG AGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGG TAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAG TAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGG ACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGC GCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02897.hp2 others(5): Show HG02258.hp2 HG02451.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp1	a0006 a0009 a0033 others(1): Show a0006 a0009 a0033 a0038	a0006c0021 a0006c0072 a0009c0014 others(3): Show a0006c0021 a0006c0072 a0009c0014 a0009c0069 a0033c0081 a0038c0074	a0006c0021t0018 a0006c0021t0044 a0006c0072t0036 others(5): Show a0006c0021t0018 a0006c0021t0044 a0006c0072t0036 a0009c0014t0019 a0009c0014t0043 a0009c0069t0019 a0033c0081t0058 a0038c0074t0035	a0006c0021t0018g0198 a0006c0021t0044g0199 a0006c0072t0036g0206 others(5): Show a0006c0021t0018g0198 a0006c0021t0044g0199 a0006c0072t0036g0206 a0009c0014t0019g0205 a0009c0014t0043g0201 a0009c0069t0019g0204 a0033c0081t0058g0200 a0038c0074t0035g0203	8	198	0.0404	487	c.45+ others(500): Show c.45+151_45+152insGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAG GGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGC CGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG GGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGG GGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTG GGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGG GGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCB_chr16_23830983_24225611	23981914	C C	CCCTTCCC others(480): Show CCCTTCCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTT CCCTTCCACTTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCC TTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTTCCCC TTCTCTTTCCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTTCCCT TTCCCTTCCTTTTCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCCCTCCCCCTTCCCTTCCCCTTCCCCTTCCCTTTACCTTCC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCT CCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTTCCCTTCC CTTCCCTTTCCCTTCCCCTCCCCTTCCCTTTCCCTTACCCTTCCCTTTCC CTTCCCCTTCTCTTTCCTTTCCCTTTCCCTTTCCATTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0131 a0001c0003t0044g0131	1	60	0.0167	487	c.206 others(504): Show c.206-6592_206-6591insTTCCCCTTCACTTTCCCTTCCCCTTCCC TTCCCTTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCC CTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCC CCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCTTTC CTTTTCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCCCTTCCCCTTC CCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCCTTCCCTTCCCCTT CCCCTTCCCTTTACCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCT TCCCCTTCCCTTCCCTTCTCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTT CCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCTTT CCCTTACCCTTCCCTTTCCCTTCCCCTTCTCTTTCCTTTCCCTTTCCCTT TCCATTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PTK6_chr20_63523001_63542376	63536002	T T	TCCTCTCC others(480): Show TCCTCTCCTGGCCTCCCGCCCCCTCCTCTCCTGGCCTCCCGTCCCCTCCT CTCCTGGTCTCCCGCCCCCCCCACCTGGCCTCCCGCCCCCCCTCACCTGG CCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCT CCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCC GCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCC CCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCC TCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCA CCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCACCCCGTCCTCACCT GGCCTCCCGCACCCCCCTCACCTGGCCTCCCGCCCCCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0210 a0001c0002t0012g0210	1	280	0.0036	487	c.231 others(502): Show c.231-944_231-943insGGGGGGCGGGAGGCCAGGTGAGGGGGGTGC GGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGGCGGG AGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGG CCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCA GGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTG AGGGGGGGGGGCGGGAGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGTGAG GAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGG GCGGGAGGCCAGGTGAGGGGGGGCGGGAGGCCAGGTGGGGGGGGCGGGAG ACCAGGAGAGGAGGGGACGGGAGGCCAGGAGAGGAGGGGGCGGGAGGCCA GGAGAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	468198	A A	AGGGGCGT others(480): Show AGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAG GAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCT GGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0058 a0001c0008t0058	a0001c0008t0058g0113 a0001c0008t0058g0113	1	290	0.0034	487	c.809 others(504): Show c.809-3094_809-3093insGCGTCAGGGAGGAGGAGGTCCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTC CTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGTCCTGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(480): Show TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCCCCGGGA GACCCGAGGCCGCCCAGAGCCCCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCCCCCCGGGAGACCCGAGGCCGCCC AGAGCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCC AGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGGGCCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0022 a0004c0007t0022	a0004c0007t0022g0067 a0004c0007t0022g0067	1	235	0.0043	487	c.126 others(506): Show c.1265+3387_1265+3388insGGCCCTTCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCCCCGGGAG ACCCGAGGCCGCCCAGAGCCCCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCCCCCCGGGAGACCCGAGGCCGCCCA GAGCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC GGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCA GGGCCCCCCCGGGAGACCCGAGGCCGTCCAGGGCCCCCCCGGGAGACCCG AGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(480): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCC GGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCG GCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGG GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCC GGCCGGGGGGCGGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCGGCCGGGGGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0018 a0001c0001t0009g0018	1	24	0.0417	487	c.72+ others(498): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCC CCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGG CGGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGC GGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCGGCCGG GGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGC CCGGCCGGGGGGCGGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCGGCCGGGGGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGG GGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPTOR_chr17_80539838_80971368	80634610	T T	TGTGCGTA others(480): Show TGTGCGTACTGTGTGTGTGCATATTGTGTGCGTGTGTGCATACTGTGTGT GTGTGCATACTGTGTGCGTGTGCGTACTGTGTGTGTGTGCATACTGTGTG TGTGCGCATACTGTGTGTGCATACTGTGTGTGCATACTGTGTGCGTGTGT GTACTGTGTGTGTGTGCATACTGTGTGCGTGCATACCGTGTGTGTGCATA CTGTGTGTGTGCGTACTGTGTGTGTGCGTACTGTGTGCGTGTGCGTACTG TGCGTGTGCGTACTGTGCGTGTGCATACTGTGCGTGTGCGTACTATGTGC GTGTGCGTACTGTGTGCATGTGCGTACTGTGTGTGCATACTGTGTGTGTG CATACTGTGTGCGTGTGCATACCGTGTGTGTGTGCATACCGTGTGTGTGC ATACTGTGTGCATACTTTGTGTGTGCATAGTGTGTGCGTGTGCATACTGT GTGTGCGTACTGTGTGTGTGCATACTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01516.hp1 HG02273.hp2 others(2): Show HG00438.hp2 HG01516.hp1 HG02273.hp2 HG03831.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0030 others(1): Show a0001c0003 a0001c0018 a0001c0030 a0001c0052	a0001c0003t0004 a0001c0018t0016 a0001c0030t0003 others(1): Show a0001c0003t0004 a0001c0018t0016 a0001c0030t0003 a0001c0052t0003	a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0030t0003g0116 others(2): Show a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0030t0003g0116 a0001c0030t0003g0117 a0001c0052t0003g0149	5	114	0.0439	487	c.265 others(504): Show c.265+8819_265+8820insGCGTACTGTGTGTGTGCATATTGTGTGC GTGTGTGCATACTGTGTGTGTGTGCATACTGTGTGCGTGTGCGTACTGTG TGTGTGTGCATACTGTGTGTGTGCGCATACTGTGTGTGCATACTGTGTGT GCATACTGTGTGCGTGTGTGTACTGTGTGTGTGTGCATACTGTGTGCGTG CATACCGTGTGTGTGCATACTGTGTGTGTGCGTACTGTGTGTGTGCGTAC TGTGTGCGTGTGCGTACTGTGCGTGTGCGTACTGTGCGTGTGCATACTGT GCGTGTGCGTACTATGTGCGTGTGCGTACTGTGTGCATGTGCGTACTGTG TGTGCATACTGTGTGTGTGCATACTGTGTGCGTGTGCATACCGTGTGTGT GTGCATACCGTGTGTGTGCATACTGTGTGCATACTTTGTGTGTGCATAGT GTGTGCGTGTGCATACTGTGTGTGCGTACTGTGTGTGTGCATACTGTGTG TGTGTGCGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748344	G G	GGGGGCTG others(480): Show GGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTTGGATG GAGGGACTGCGGTGTGTGTTTAGAGGCCATGGCGGGAGGACCTGTTGGGT GGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGACCTGT TGGATGGAGGGACTGTGGTGTGTGTTTAGAGGCCGTGGCGAGAGGACCTG TTGGGTGGATGGAGGGACTGCGGTGTGTGTTTAGAGGCTGTGGCGGGAGG ACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCG GGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTAGAGGCCG TGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTAGA GGCTGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGT TTGGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03834.hp2 NA19057.hp2 HG01516.hp1 HG03834.hp2 NA19057.hp2	a0001 a0001	a0001c0028 a0001c0030 a0001c0051 a0001c0028 a0001c0030 a0001c0051	a0001c0028t0019 a0001c0030t0003 a0001c0051t0060 a0001c0028t0019 a0001c0030t0003 a0001c0051t0060	a0001c0028t0019g0024 a0001c0030t0003g0117 a0001c0051t0060g0115 a0001c0028t0019g0024 a0001c0030t0003g0117 a0001c0051t0060g0115	3	188	0.0160	487	c.655 others(504): Show c.655-5620_655-5619insATGGAGGGACTGCGGTGTGTGTTTAGAG GCCATGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTT TGGAGGCCGTGGCGGGAGGACCTGTTGGATGGAGGGACTGTGGTGTGTGT TTAGAGGCCGTGGCGAGAGGACCTGTTGGGTGGATGGAGGGACTGCGGTG TGTGTTTAGAGGCTGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTG CGGTGTGTGTTTGGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGAGG GGCTGCGGTGTGTGTTTAGAGGCCGTGGCGGGAGGACCTGTTGGGTGGAT GGAGGGGCTGCGGTGTGTGTTTAGAGGCTGTGGCGGGAGGACCTGTTGGG TGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGACCTG TTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGG GCCTGTTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCART1_chr10_133448945_133474760	133472599	C C	CCTGAGAT others(480): Show CCTGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGT TGAGTGTGGCGTCTCCCTTCTGAGATCTGGTCAGTTGAAAGTGTGGCGTC TCCCTCCTGAGATCTGGTCATTGAGTGTGGCGTCTCCCTCCTGAGATCTG GTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGGTCAGTTGAGTGTGG CGTCTCCCTCCTGAGATCTGGTCATTGAGTGTGGCGTCTCCCTCCTGAGA TCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGGTCAGTTGAGT GTGGCGTCTCCCTCCTGAGGTCTGGTCAGTTGAGTGTGGCGTCTCCCTCC TGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTG AGTGTGGCGTCTCCCTTCTGAGATCTGGTCAGTTGAAAGTGTGGCGTCTC CCTCCTGAGATCTGGTCATTGAGTGTGGCGTCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0166 a0004c0005t0005g0166	1	425	0.0024	487	c.46 others(498): Show c.4631_*4632insCTGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTC CTGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTTCTGAGATCTGGTCAGT TGAAAGTGTGGCGTCTCCCTCCTGAGATCTGGTCATTGAGTGTGGCGTCT CCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTG GTCAGTTGAGTGTGGCGTCTCCCTCCTGAGATCTGGTCATTGAGTGTGGC GTCTCCCTCCTGAGATCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGG TCTGGTCAGTTGAGTGTGGCGTCTCCCTCCTGAGGTCTGGTCAGTTGAGT GTGGCGTCTCCCTCCTGAGATCTGGTCGTTGAGTGTGGCGTCTCCCTCCT GAGATCTGGTCGTTGAGTGTGGCGTCTCCCTTCTGAGATCTGGTCAGTTG AAAGTGTGGCGTCTCCCTCCTGAGATCTGGTCATTGAGTGTGGCGTCTCC CTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2840		chr10	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(480): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	283	0.0035	487	c.115 others(504): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC12A7_chr5_1045384_1117063	1098383	T T	TTCTAACC others(480): Show TTCTAACCCTCTGCATGCCCAGGCCCCCTTTAACCCTCTGCACACCCAGC CCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCTTCTAA CCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCA GCCCCCTTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0024 a0002c0012t0003 a0002c0012t0024	a0002c0012t0003g0075 a0002c0012t0024g0074 a0002c0012t0003g0075 a0002c0012t0024g0074	2	52	0.0385	487	c.125 others(504): Show c.125-4136_125-4135insGGGGGGCTGGGCATGCAGAGGGTTAGAG GGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAG GGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGC AGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGT GAGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGG GGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGG TTAGAGGGGGGCTGGGTGTGCAGAGGGTTAAAGGGGGCCTGGGCATGCAG AGGGTTAGA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(480): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTATCTTG AAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGG GACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAG CCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGG CAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCA GGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCT GCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAAC TCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGT CCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02895.hp2 others(3): Show HG01884.hp2 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0028 a0001c0001t0005g0052 others(1): Show a0001c0001t0005g0014 a0001c0001t0005g0028 a0001c0001t0005g0052 a0001c0001t0005g0119	6	243	0.0247	487	c.98 others(496): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTT CAGTTCTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAAC ACTAAGTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTT CCCAGACCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGT CACATAATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGT ACAGCATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAG ATATGCAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAG GACTTTGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTT CCAGAAGCAGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGC T	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC38A10_chr17_81239811_81300307	81249456	G G	GAGGAGGG others(480): Show GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGA GGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAGAAGGAGG GAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGA GGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAG AAAGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAAAA GGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGGAGGGAAGAGGGA GAAGAGAGGAGGGAGAAAGGGAGGCGAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0001 a0003c0029t0001	a0003c0029t0001g0023 a0003c0029t0001g0023	1	20	0.0500	487	c.206 others(506): Show c.2065+2036_2065+2037insTCTCCCTCCTCTCGCCTCCCTTTCTC CCTCCTCTCTTCTCCCTCTTCCCTCCTTCCTTCTCCCTCCCTCCTTCTCC CTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCC TCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTC TTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTT CCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCC TCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCTTTCTCCCTC CTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC6A18_chr5_1220381_1251189	1238468	G G	GTCAGGTT others(480): Show GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGG ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGG ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGC CTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0253 a0001c0029t0002g0253	1	389	0.0026	487	c.732 others(502): Show c.732+429_732+430insGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG GGCCTGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SORCS2_chr4_7187538_7747827	7449221	C C	CCCTCCCT others(480): Show CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCT CCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0121 a0001c0002t0008g0121	1	156	0.0064	487	c.548 others(506): Show c.548+52877_548+52878insTCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCC TTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTT CCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(480): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGG AGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAG GGGAGATGGGGAGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGA GGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	12	0.0833	487	c.34 others(496): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCTCCCCATCTC CCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCAC CTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCC T	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUFU_chr10_102498972_102638535	102637475	T T	TTATATAT others(480): Show TTATATATTATATAACTATATATTATATATATTATATATTATATTACTAT ATTATATATATATATATTATATAATATATATATATAATTATATATAATAT ATATATATATACTATTATATATATATAATATATATATTATATATATATAT ATTATATATTAATATAACTATATATTATATAATTATATAACTATTTATTA TATATATATATATACTTATATATTATATAAATATATATATTATATAATAT ATAACTATATTATTATATATATATATATATATTATATAATATATATTATA TATTATATATATTATATATTATATAATATATATTATATAACTATATAATT ATATATTATATATATAGTATATTATATATATATAACTATATATTATATAT AATATATATATTATATATAATATAACTATATATTATATATAATATATAAT TATATATTATATAACTATATATTATATATATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	266	0.0038	487	c.73 others(498): Show c.7320_*7321insTATATATTATATAACTATATATTATATATATTAT ATATTATATTACTATATTATATATATATATATTATATAATATATATATAT AATTATATATAATATATATATATATACTATTATATATATATAATATATAT ATTATATATATATATATTATATATTAATATAACTATATATTATATAATTA TATAACTATTTATTATATATATATATATACTTATATATTATATAAATATA TATATTATATAATATATAACTATATTATTATATATATATATATATATTAT ATAATATATATTATATATTATATATATTATATATTATATAATATATATTA TATAACTATATAATTATATATTATATATATAGTATATTATATATATATAA CTATATATTATATATAATATATATATTATATATAATATAACTATATATTA TATATAATATATAATTATATATTATATAACTATATATTATATATATATAT AAC	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3941		chr10	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(480): Show CCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCA TCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATC CCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCG CCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATC CCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCG CCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCC ATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTC CCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCA CCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCCACC CCACCCATCCCCCCTTCCCTCACCCATCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02896.hp2 others(3): Show HG02451.hp2 HG02723.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0037 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0037 a0001c0001t0002g0098 a0001c0001t0004g0024 a0001c0001t0009g0004	6	12	0.5000	487	c.142 others(508): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC CCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC ATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCT CCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACC CACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCT CCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCT CCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCC ACCCCACCCATCCTCCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCA TCCCTCCCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(480): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATACATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATATTATATATTATATATACATTATATATATT ATATATTATATATACATTATATATATTATATATTATATATACATTATATA TATTATATATTATATATACATTATATATATTATATATTATATATACATTA TATATATTATATATTATATATACATTATATATATTATATATTATATATAC ATTATATATATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0044 a0001c0001t0011g0044	1	149	0.0067	487	c.102 others(506): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TGTATATATATAATGTATATATAATGTATATATATATAATATATATAATG TATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
ULK1_chr12_131889622_131928150	131918730	G G	GGGGTGTG others(480): Show GGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTAG GGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTG TGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGT GTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAG GGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGG TGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGG GTGTGGGGTGTAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGT GGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTC AGGTGTGTGGGGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGT GTGGGGTGTAGGGTGTGTGGTGTAGGGTATGGGGTGTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	169	0.0059	487	c.251 others(502): Show c.2511+96_2511+97insAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTG TGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTGTGGG GTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAGGGTGTGTGGGGT GTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTG TGTGGGGTGTCAGGTGTGTGGGGTGTGGGGTGTAGGGTGTGTGGGGTATA GGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGT GTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTG TCAGGTGTGTGGGGTGTAGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGT ATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGT GGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(480): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATATATATTATATTTATGTAATATAT AATATATATTTATATATTATATTTATGTAATATATATTTATATATTATAT TTATGTAATATATATTTATATATTATATTTATGTAATATATATTTATATA TTATATTTATGTAATATATATTTATATATTATATTTATGTAATATATATT TATATATTATATTTATGTAATATATATTTATATATTATATTTATGTAATA TATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTA TATATTATATTTATGTAATATATAATATATATTTATATATTATATTTATG TAATATATAATATATATTTATATATTATATTTATGTAATATATAATATAT ATTTATATATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02155.hp2 HG00544.hp2 HG02155.hp2	a0001 a0001	a0001c0006 a0001c0034 a0001c0006 a0001c0034	a0001c0006t0001 a0001c0034t0030 a0001c0006t0001 a0001c0034t0030	a0001c0006t0001g0007 a0001c0034t0030g0092 a0001c0006t0001g0007 a0001c0034t0030g0092	2	60	0.0333	487	c.213 others(506): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATATAA ATATATATTATATATTACATAAATATAATATATAAATATATATTACATAA ATATAATATATAAATATATATTACATAAATATAATATATAAATATATATT ACATAAATATAATATATAAATATATATTACATAAATATAATATATAAATA TATATTACATAAATATAATATATAAATATATATTACATAAATATAATATA TAAATATATATTATATATTACATAAATATAATATATATATATATTATATA TTACATAAATATAATATATAAATATATATTATATATTACATAAATATAAT ATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar

Search by Variant

Search

Search Results