Joint Open Genome and Omics Platform (JoGo)

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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
RAB11FIP3_chr16_420649_528011	467524	G G	GCGTCAGG others(631): Show GCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC AGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTG GGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGA GGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGT GCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02145.hp2 HG00323.hp2 HG02145.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0010 a0001c0002 a0005c0010	a0001c0002t0009 a0005c0010t0005 a0001c0002t0009 a0005c0010t0005	a0001c0002t0009g0084 a0005c0010t0005g0083 a0001c0002t0009g0084 a0005c0010t0005g0083	2	292	0.0068	638	c.809 others(655): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(631): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGG GAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGG AGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	30	0.0333	638	c.36 others(649): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGG AGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(631): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	81	0.0123	638	c.132 others(655): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATAAAT others(631): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	255	0.0039	638	c.632 others(655): Show c.632+8246_632+8247insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG CTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20129.hp1 HG03486.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0276 a0003c0003t0001g0408 a0003c0003t0001g0276 a0003c0003t0001g0408	2	184	0.0109	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT AATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 NA18945.hp1 others(7): Show HG01884.hp2 HG02965.hp1 NA18945.hp1 NA18947.hp1 NA18963.hp2 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA19001.hp1 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0004c0012 a0006c0005	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0004c0012t0003 a0006c0005t0003	a0001c0001t0001g0239 a0001c0001t0001g0311 a0001c0001t0001g0337 others(7): Show a0001c0001t0001g0239 a0001c0001t0001g0311 a0001c0001t0001g0337 a0001c0001t0001g0401 a0001c0006t0001g0106 a0002c0002t0001g0330 a0002c0002t0002g0033 a0002c0002t0010g0095 a0004c0012t0003g0338 a0006c0005t0003g0143	10	192	0.0521	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGC TAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGC TGGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTT AATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0240 a0003c0003t0001g0240	1	183	0.0055	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGC TAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGC TGGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTT AATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG CTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02895.hp1 others(7): Show HG02280.hp2 HG02630.hp2 HG02895.hp1 HG02970.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0011 a0003c0003 others(1): Show a0001c0001 a0002c0011 a0003c0003 a0004c0009	a0001c0001t0001 a0001c0001t0005 a0002c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0011t0001 a0003c0003t0001 a0004c0009t0008	a0001c0001t0001g0025 a0001c0001t0001g0341 a0001c0001t0001g0354 others(5): Show a0001c0001t0001g0025 a0001c0001t0001g0341 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0005g0012 a0002c0011t0001g0122 a0003c0003t0001g0234 a0004c0009t0008g0321	10	192	0.0521	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT AATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0331 a0004c0009t0003g0331	1	183	0.0055	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT AATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	183	0.0055	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGC TAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGC TGGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTT AATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(631): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAT TATATATAATATATATTATATATATTATATATAATATATATAATATAAAT ATATTATATATAATATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp2 HG02257.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0011 a0001c0001t0007g0012	2	133	0.0150	638	c.-70 others(655): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATATTATATATAATATATATAATATA TATTATATATAATATATATAATATATATATTATATATATTATATATAATA TATTTATATTATATATTATATATAATATATTTATATTATATATTATATAT AATATATTTATATTTATATAATATATAATATATTTATATTTATATATAAT ATATATAATATATTTATATTTATGTATAATATATATAATATATTTATATT TATGTATAATATATATAATATATTTATATTTATGTATAATATATATAATA TATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(631): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGAGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGG GAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGA GGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGG GGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	638	c.12 others(649): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCTCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(631): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGG GAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGA GGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGG GGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01106.hp1 others(1): Show HG00099.hp2 HG00639.hp1 HG01106.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	138	0.0290	638	c.12 others(649): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(631): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAG GGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGG GGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGA GAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00642.hp2 others(17): Show HG00323.hp2 HG00423.hp1 HG00642.hp2 HG01074.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG02040.hp2 HG02056.hp2 HG02155.hp1 HG02698.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG04115.hp2 NA18941.hp1 NA18980.hp2 NA19007.hp2 NA19011.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	20	22	0.9091	638	c.12 others(649): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTC ACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACC CTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(631): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	80	0.0125	638	c.64 others(649): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(631): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GCCCAGCGGGGGTTGGAGTTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGG AGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	80	0.0125	638	c.64 others(649): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGG CAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAAACTCCAACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(631): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	80	0.0125	638	c.64 others(649): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCC CGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACC CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(631): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGTGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	80	0.0125	638	c.64 others(649): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCACCCCCCAGGCAACTCCACCCCCGCTGG GCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACC CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(631): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0228 a0001c0019t0001g0228	1	4	0.2500	638	c.157 others(657): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCC ACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCAC CCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCC CGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCG CTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCAC CCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCC CCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACC CCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACC CCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCT CCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCC CGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(631): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGATGGT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGATGGTGGTGA TGATGGTGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATG GTAATGGTGGTGGTGATGGTGATGGTGATAATGTGGCGATGGTGATGGTA ATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGAT GATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGATAGTGATGATGA TGGTGATGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTG ATGACGGTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGC GATGGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGA TGATGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATG ATAATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGT GTTGATGGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGG CGATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG02965.hp1 HG02109.hp1 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013	a0001c0001t0002g0161 a0001c0001t0007g0031 a0001c0001t0013g0049 a0001c0001t0002g0161 a0001c0001t0007g0031 a0001c0001t0013g0049	3	59	0.0508	638	c.113 others(657): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATG ATGGTGGTGGTGATGGTGATGGTAATGGTGGTGGTGATGGTGATGGTGAT AATGTGGCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGAT GGTGATCATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAA TGATGGTGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATG GTAATGATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGAT GGTGGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGG TGACGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTG GTGATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGGTGTTGATGGTGATCGTGGTGGTAATGGTGA TGATGATGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTG ATGGTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(631): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGT GATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGGTGGTGA TGATGGTGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATG GTAATGGTGGTGGTGATGGTGATGGTGATAATGTGGCGATGGTGATGGTA ATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGAT GATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGATAGTGATGATGA TGGTGATGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTG ATGACGGTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGC GATGGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGA TGATGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATG ATAATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGT GTTGATGGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGG CGATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp2 HG03195.hp2 others(2): Show HG01884.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0012 a0001c0001t0002 a0001c0001t0003 a0001c0003t0012	a0001c0001t0002g0096 a0001c0001t0002g0158 a0001c0001t0003g0006 others(2): Show a0001c0001t0002g0096 a0001c0001t0002g0158 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0003t0012g0144	5	61	0.0820	638	c.113 others(657): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGGTGGT GGTGATGGTGATGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATG ATGGTGGTGGTGATGGTGATGGTAATGGTGGTGGTGATGGTGATGGTGAT AATGTGGCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGAT GGTGATCATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAA TGATGGTGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATG GTAATGATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGAT GGTGGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGG TGACGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTG GTGATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGGTGTTGATGGTGATCGTGGTGGTAATGGTGA TGATGATGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTG ATGGTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(631): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCA CCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCC CTCCGCCCCACCCATCCCCCCTCCCCTCCCCTCACCCATCCCTCCCTCGC CCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCA TCCCTCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATCC TCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCAT CCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCC CTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACC CCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	61	0.0164	638	c.142 others(659): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCTCCCCTCACC CATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCC TCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCCCC TCACCCATCCCTCCCTCGCCCCACCCATCCCTCCCTCCGCCCCACCCATC CCTCCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATCCCTCCATCCT CCCTCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGC CCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCC ACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCAC CCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCEA3_chr1_23375909_23429748	23404685	G G	GCGGTGGC others(631): Show GCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGTGGTTGAGGCAGGAG GATTTCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACAAAGTGAGAC TCTGTCTCTACAAAAAAAAAATTTTTTTTAAGTTAGCTGGGTGTGGTGGT GTGCACCTGTGGTCCTAGCTACACGGGAGGCTGGAGCAGGAGGATTGCTT GAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTGTTTATACCACTGCACTC CAGCCTGGGTGAGATCCTGTCTCAGAAAAGGTGGTGTCGGGGAGTTCCAT ATGAAAATCTAGGTGTCTGGCTTTTCTTTAAAAAATTGGAAGACATGGCA CCCTGGACCTGCATTTCCCCAAAGCAACAATCAGCTGCAGTGGGGTAGTG GCTGCCCCCTTCAGACAGGCACATACTTTCTAGTTTGCCATGATCTCCAC TAGTCACCCCGTGTATGCATGTGCTCTTGATCCCCAGAGAATGTTGAATT TGCAAGGAAGTGCTCAATAGATGTGCTTGCCAAATCAATGAATGGATGAA AGAACGGAAGAGAAAAATGAAATAGAGAAGTAAATCATGCAGGAAACAGT CTGGGTAGGAGACAAATTAATGAGATTTGCTGCCTGGCA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	376	0.0027	638	c.443 others(655): Show c.443+3341_443+3978dupTGCCAGGCAGCAAATCTCATTAATTTGT CTCCTACCCAGACTGTTTCCTGCATGATTTACTTCTCTATTTCATTTTTC TCTTCCGTTCTTTCATCCATTCATTGATTTGGCAAGCACATCTATTGAGC ACTTCCTTGCAAATTCAACATTCTCTGGGGATCAAGAGCACATGCATACA CGGGGTGACTAGTGGAGATCATGGCAAACTAGAAAGTATGTGCCTGTCTG AAGGGGGCAGCCACTACCCCACTGCAGCTGATTGTTGCTTTGGGGAAATG CAGGTCCAGGGTGCCATGTCTTCCAATTTTTTAAAGAAAAGCCAGACACC TAGATTTTCATATGGAACTCCCCGACACCACCTTTTCTGAGACAGGATCT CACCCAGGCTGGAGTGCAGTGGTATAAACAGGGCTCACTGCAGCCTCAAC CTCCTGGGCTCAAGCAATCCTCCTGCTCCAGCCTCCCGTGTAGCTAGGAC CACAGGTGCACACCACCACACCCAGCTAACTTAAAAAAAATTTTTTTTTT GTAGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGTCTCGAACTCCTGGG CTCAAGAAATCCTCCTGCCTCAACCACCCAAAGTGCTGGGATTACAGGTG TGAGCCACCG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	5/10			chr1	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(631): Show ATCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGC CCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCTGT CTGAGAGGTGAGGAGCGCCTCTGCCTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01243.hp1 others(9): Show HG00735.hp2 HG00741.hp2 HG01243.hp1 HG01361.hp2 HG02280.hp1 HG02723.hp2 HG02976.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp1 HG04204.hp1 NA18522.hp1	a0001 a0007 a0012 a0001 a0007 a0012	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0028 a0001c0038 a0001c0039 a0007c0047 a0012c0033	a0001c0001t0008 a0001c0001t0010 a0001c0002t0062 others(8): Show a0001c0001t0008 a0001c0001t0010 a0001c0002t0062 a0001c0003t0006 a0001c0003t0035 a0001c0005t0002 a0001c0028t0060 a0001c0038t0004 a0001c0039t0046 a0007c0047t0041 a0012c0033t0037	a0001c0001t0008g0013 a0001c0001t0010g0020 a0001c0002t0062g0090 others(9): Show a0001c0001t0008g0013 a0001c0001t0010g0020 a0001c0002t0062g0090 a0001c0003t0006g0056 a0001c0003t0006g0065 a0001c0003t0035g0038 a0001c0005t0002g0032 a0001c0028t0060g0087 a0001c0038t0004g0003 a0001c0039t0046g0057 a0007c0047t0041g0047 a0012c0033t0037g0039	12	27	0.4444	638	c.108 others(659): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACAGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCC AGGCAGAGGCGCTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGTGCT CCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(631): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGC CCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGT CTGAGAGGTGAGGAGCGCCTCTGCCTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0036 a0001c0011t0047 a0001c0011t0036 a0001c0011t0047	a0001c0011t0036g0045 a0001c0011t0047g0066 a0001c0011t0036g0045 a0001c0011t0047g0066	2	17	0.1176	638	c.108 others(659): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGT CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCTGCC GGGCAGAGGCGCTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCT CCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(631): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGC CCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCTGT CTGAGAGGTGAGGAGCGCCTCTGCCTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0034 a0001c0035t0034	a0001c0035t0034g0026 a0001c0035t0034g0026	1	16	0.0625	638	c.108 others(659): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACAGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCC AGGCAGAGGCGCTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCT CCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879335	G G	ACCTCTGC others(631): Show ACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCTGGC AGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCT GGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAG CGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGG CCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGG GAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCG CCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCC GCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGA TGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCC TCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGC CGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGG AGGTGGGGAGCGCCTCTGCCCGGCCGCCCTGTCTGAGAGGTGAGGAGCAC CTCTGCCTGGCAGCCGCCCTGTCTGGGATGTGAGGAGCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0007 a0001c0042t0007	a0001c0042t0007g0068 a0001c0042t0007g0068	1	84	0.0119	638	c.108 others(659): Show c.1084+10450_1084+10451insGCTCCTCACATCCCAGACAGGGCG GCTGCCAGGCAGAGGTGCTCCTCACCTCTCAGACAGGGCGGCCGGGCAGA GGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACC TCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGC GGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCGGCCGGGCAG AGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGCGCTCCCCAC CTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGG CGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAG GCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCT CCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTCAGACGGGGC GGCCGGGCAGAGGT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879335	G G	ACCTCTGC others(631): Show ACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCTGGC AGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCT GGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAG CGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGG CCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGG GAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCG CCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCC GCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGA TGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCC TCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGC CGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGG AGGTGGGGAGCGCCTCTGCCCGGCCGCCCTGTCTGAGAGGTGAGGAGCGC CTCTGCCTGGCAGCCGCCCTGTCTGGGATGTGAGGAGCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0025 a0002c0019t0025	a0002c0019t0025g0008 a0002c0019t0025g0008	1	84	0.0119	638	c.108 others(659): Show c.1084+10450_1084+10451insGCTCCTCACATCCCAGACAGGGCG GCTGCCAGGCAGAGGCGCTCCTCACCTCTCAGACAGGGCGGCCGGGCAGA GGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACC TCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGC GGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCGGCCGGGCAG AGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGCGCTCCCCAC CTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGG CGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAG GCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCT CCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTCAGACGGGGC GGCCGGGCAGAGGT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(631): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCT GTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCT GTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	111	0.0090	638	c.924 others(655): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415737	C C	CCTGTCTC others(631): Show CCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTC TGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTC TCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTC TCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTC TCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTC TCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTC TCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0253 a0003c0006t0010g0253	1	254	0.0039	638	c.924 others(655): Show c.924-2422_924-2421insCAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGACAGA GAGAGAGAGAGACAGAGAGAGAGGAGAAAGAGACAGAGAGAGAGAGACAG AGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAG AGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAG AGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAG AGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAC AGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAG AGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAG AGAGAGACAG	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(631): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT GTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTGTCTCTCTCT GTCTCTTTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	158	0.0063	638	c.924 others(655): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGA GAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747767	C C	CGGGAGTC others(631): Show CGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGGCTAGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG ACACTGAAGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0101 a0001c0001t0015g0101	1	254	0.0039	638	c.189 others(653): Show c.189-554_189-553insTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTAGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGACACTGAAGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747937	G G	GCACTGGG others(631): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0155 a0001c0001t0063g0155	1	252	0.0040	638	c.189 others(653): Show c.189-388_189-387insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS13_chr11_117895641_117934402	117926048	G G	GCACACCT others(631): Show GCACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGG TGAGGGATGCACACCTGCAGAGGCATAGGGCAGGTGCCAGGGTCCTTGGA GGACGAGGTGAGGGCTACACACCTGCAGGGGCATAGGGCAGGTGCCAGGG TCCTTGGAGGACGAGGTGAGGGATGCACACCTGCAGGGGCATAGGGCAGG TGCCAGGGTCCTTGGAGGACGAGGTGAGGGATGCACACCTGCAGAGGCAT AGGGCAGGTGCCAGGGTCCTTGGAGGACGAGGTGAGGGCTACACACCTGC AGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGGTGAGGGATGC ACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACAAGGTG AGGGATGCACACCTGCAGAGGCATAGGGCAGGTGCCAGGGTCCTTGGAGG ACGAGGTGAGGGCTACACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTC CTTGGAGGACGAGGTGAGGGATGCACACCTGCAGGGGCATAGGGCAGGTG CCAGGGTCCTTGGAGGACGAGGTGAGGGATGCACACCTGCAGAGGCATAG GGCAGGTGCCAGGGTCCTTGGAGGACGAGGTGAGGGCTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	344	0.0029	638	c.21+ others(653): Show c.21+3238_21+3239insTAGCCCTCACCTCGTCCTCCAAGGACCCTG GCACCTGCCCTATGCCTCTGCAGGTGTGCATCCCTCACCTCGTCCTCCAA GGACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGCATCCCTCACCTCG TCCTCCAAGGACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGTAGCCC TCACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCTCTGCAGGTG TGCATCCCTCACCTTGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCCC TGCAGGTGTGCATCCCTCACCTCGTCCTCCAAGGACCCTGGCACCTGCCC TATGCCCCTGCAGGTGTGTAGCCCTCACCTCGTCCTCCAAGGACCCTGGC ACCTGCCCTATGCCTCTGCAGGTGTGCATCCCTCACCTCGTCCTCCAAGG ACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGCATCCCTCACCTCGTC CTCCAAGGACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGTAGCCCTC ACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCTCTGCAGGTGTG CATCCCTCACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCCCTG CAGGTGTG	TMPRSS13	ENSG00000137747.16	transcript	ENST00000524993.6	protein_coding	1/12			chr11	TogoVar
TMPRSS13_chr11_117895641_117934402	117926048	G G	GCACACCT others(631): Show GCACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGG TGAGGGATGCACACCTGCAGAGGCATAGGGCAGGTGCCAGGGTCCTTGGA GGACGAGGTGAGGGCTACACACCTGCAGGGGCATAGGGCAGGTGCCAGGG TCCTTGGAGGACGAGGTGAGGGATGCACACCTGCAGGGGCATAGGGCAGG TGCCAGGGTCCTTGGAGGACGAGGTGAGGGATGCACACCTGCAGAGGCAT AGGGCAGGTGCCAGGGTCCTTGGAGGACGAGGTGAGGGCTACACACCTGC AGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGGTGAGGGATGC ACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGGTG AGGGATGCACACCTGCAGAGGCATAGGGCAGGTGCCAGGGTCCTTGGAGG ACGAGGTGAGGGCTACACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTC CTTGGAGGACGAGGTGAGGGATGCACACCTGCAGGGGCATAGGGCAGGTG CCAGGGTCCTTGGAGGACGAGGTGAGGGATGCACACCTGCAGAGGCATAG GGCAGGTGCCAGGGTCCTTGGAGGACGAGGTGAGGGCTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0054	a0001c0004t0054g0113 a0001c0004t0054g0113	1	344	0.0029	638	c.21+ others(653): Show c.21+3238_21+3239insTAGCCCTCACCTCGTCCTCCAAGGACCCTG GCACCTGCCCTATGCCTCTGCAGGTGTGCATCCCTCACCTCGTCCTCCAA GGACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGCATCCCTCACCTCG TCCTCCAAGGACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGTAGCCC TCACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCTCTGCAGGTG TGCATCCCTCACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCCC TGCAGGTGTGCATCCCTCACCTCGTCCTCCAAGGACCCTGGCACCTGCCC TATGCCCCTGCAGGTGTGTAGCCCTCACCTCGTCCTCCAAGGACCCTGGC ACCTGCCCTATGCCTCTGCAGGTGTGCATCCCTCACCTCGTCCTCCAAGG ACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGCATCCCTCACCTCGTC CTCCAAGGACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGTAGCCCTC ACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCTCTGCAGGTGTG CATCCCTCACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCCCTG CAGGTGTG	TMPRSS13	ENSG00000137747.16	transcript	ENST00000524993.6	protein_coding	1/12			chr11	TogoVar
TMPRSS2_chr21_41459305_41513158	41474494	A A	AGTGAGGA others(631): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGTGGGTGAGGAGGT GAGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAG GGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTG AGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGG TGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTG AGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAG TGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTG AGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAG TGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGGTGAGGGAGTGAGT GAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGA GTGAGGGGGTGAGGGGTGAGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0032 a0002c0005t0001g0032	1	347	0.0029	638	c.728 others(653): Show c.728-999_728-998insCCACCCCCTCACTCACTCCCTCACCCCTCA CCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACC CACCCCCTCACTCACTCCCTCACCCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCTCACCTCCTCACCCACCCCTCACTCACTCCCTCACCCCCTCAC CCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTC ACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCAC CTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(631): Show CTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTGTC CTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTC TCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCC TTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCT CCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCC TCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCT CCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTC TCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0005 a0001c0004t0002g0005	1	46	0.0217	638	c.-25 others(657): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCCTCCCC TCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTACCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCC CCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTC CCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCC CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCT CCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(631): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCT CCCTCCTCCTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTT CCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTC CTCTCCTCCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCT CCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp2 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0057 a0001c0001t0013g0056 a0001c0001t0001g0057 a0001c0001t0013g0056	2	9	0.2222	638	c.424 others(655): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCT CCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCC TCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCC TCCTCCCCTCCTCTCCTCCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTC CTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTT CCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(631): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCT CCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTT CCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	8	0.1250	638	c.424 others(655): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCC TCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTT CCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(631): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGTTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCT CCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTT CCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0274 a0001c0001t0005g0274	1	8	0.1250	638	c.424 others(655): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGTTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCC TCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTT CCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGGTTA others(631): Show AGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGC TGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	114	0.0088	638	c.48 others(649): Show c.4818_*4819insCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAA CCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCT GGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCC CTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCCAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTAGGCCTCCCTAA CCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	140157085	T T	TTTCCATT others(631): Show TTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATT CAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCT CCCTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGC CTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTT CCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAAA AGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCT TTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTC AAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTC CCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCA TTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAG CCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTT TCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0062 a0007c0017t0001g0062	1	94	0.0106	638	c.255 others(659): Show c.2556+64373_2556+64374insGGGAGGCTTCTGAATGGAAAAGGG AGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTT GAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAA AGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCT TTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGG AAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGA GGCTTTTGAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAA TGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAAGG GAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTT GAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAA AGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCT TTTGAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGG AAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAG GCTTTTGAATGGAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIML1_chr4_188134441_188152743	188152534	A A	AGGGAGGA others(631): Show AGGGAGGAGTGAGAGAGAGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAG AAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGAG GGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGAGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGG GAGTGAGAGAGAGGGTGAGAAGGGAGTGAGAGTGGGGTGAGAAGGGGAGT GAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	221	0.0045	638	c.51 others(649): Show c.5162_*5163insGGGAGGAGTGAGAGAGAGGGGTGAGAAGGGGAGT GAGAGAGGGGTTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGTGGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGA AGGGGAGTGAGAGAGGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTGAGAAGGGAAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGT GGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGAGTGAGAGTGG GGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGG TGAG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4792		chr4	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(631): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATAAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATAAATAATAT ATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00642.hp1 others(15): Show HG00438.hp2 HG00544.hp2 HG00642.hp1 HG00738.hp1 HG01168.hp1 HG01261.hp1 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 NA18974.hp2 NA18982.hp1 NA18994.hp2 NA18998.hp2 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0028 a0001c0001t0045 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0070 a0001c0001t0076 a0001c0001t0090	a0001c0001t0001g0177 a0001c0001t0007g0011 a0001c0001t0007g0192 others(15): Show a0001c0001t0001g0177 a0001c0001t0007g0011 a0001c0001t0007g0192 a0001c0001t0007g0223 a0001c0001t0011g0227 a0001c0001t0011g0291 a0001c0001t0020g0219 a0001c0001t0020g0224 a0001c0001t0028g0176 a0001c0001t0028g0218 a0001c0001t0045g0208 a0001c0001t0050g0217 a0001c0001t0051g0237 a0001c0001t0052g0175 a0001c0001t0053g0200 a0001c0001t0070g0190 a0001c0001t0076g0172 a0001c0001t0090g0173	18	61	0.2951	638	c.-1- others(655): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATAATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATTATAAATAATATATTATATATAATA TGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(631): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATAATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATAAATAATAT ATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	44	0.0227	638	c.-1- others(655): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATAATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATTATAAATAATATATTATATATAATA TGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(631): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATAAATAATAT ATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01175.hp2 others(28): Show HG00280.hp1 HG00609.hp1 HG01175.hp2 HG01192.hp2 HG01934.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02165.hp1 HG02258.hp1 HG02523.hp1 HG03017.hp1 HG03098.hp2 HG03491.hp1 HG03710.hp2 HG03831.hp1 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18970.hp2 NA18972.hp1 NA18983.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0001t0035 a0001c0001t0086 a0001c0001t0093 a0001c0001t0099 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0110 a0001c0001t0113	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(28): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0231 a0001c0001t0002g0239 a0001c0001t0004g0213 a0001c0001t0005g0197 a0001c0001t0014g0214 a0001c0001t0023g0165 a0001c0001t0026g0230 a0001c0001t0031g0198 a0001c0001t0035g0292 a0001c0001t0086g0241 a0001c0001t0093g0216 a0001c0001t0099g0225 a0001c0001t0104g0163 a0001c0001t0105g0171 a0001c0001t0106g0203 a0001c0001t0110g0195 a0001c0001t0113g0199	31	74	0.4189	638	c.-1- others(655): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATTATAAATAATATATTATATATAATA TGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(631): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAGATAATATATAAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATAAATAATAT ATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0222 a0001c0001t0007g0222	1	44	0.0227	638	c.-1- others(655): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAGATAATATATAATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATAAATAATATATTATATATTATAAATAATATATTATATATAATA TGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(631): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGG GAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGA GGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGG GGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGG AGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGA AAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGA GGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02818.hp1 others(1): Show HG02280.hp1 HG02622.hp2 HG02818.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0007 others(1): Show a0001c0004 a0001c0005 a0002c0007 a0002c0009	a0001c0004t0002 a0001c0005t0002 a0002c0007t0002 others(1): Show a0001c0004t0002 a0001c0005t0002 a0002c0007t0002 a0002c0009t0002	a0001c0004t0002g0113 a0001c0005t0002g0242 a0002c0007t0002g0122 others(1): Show a0001c0004t0002g0113 a0001c0005t0002g0242 a0002c0007t0002g0122 a0002c0009t0002g0126	4	75	0.0533	638	c.205 others(657): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCTCCCCTCCCTGCCTTCCC TCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTC CCTCCCCTCCCTCCCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCTCCCCT CCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCA CTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTC CCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCT CCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCC CTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTC CTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCT CCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(631): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATA ACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATAT TGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTGTATATAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02965.hp2 others(4): Show HG01256.hp2 HG01258.hp2 HG02965.hp2 HG03041.hp2 NA18957.hp2 NA18995.hp2 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0005 a0003c0003t0002 a0005c0005t0002 a0001c0001t0005 a0003c0003t0002 a0005c0005t0002	a0001c0001t0005g0179 a0003c0003t0002g0002 a0003c0003t0002g0016 others(4): Show a0001c0001t0005g0179 a0003c0003t0002g0002 a0003c0003t0002g0016 a0003c0003t0002g0071 a0003c0003t0002g0078 a0005c0005t0002g0002 a0005c0005t0002g0006	7	308	0.0227	638	c.-42 others(649): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(632): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	30	0.0333	639	c.505 others(658): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATGCAGTATATATACTATA CATAAAATATATATAGTACATGCAGTATATATACTATACATAAAATATAT ATAGTACATACTATACATAAAATATATATATAGTATATACAATGTACATA CTATACATAAAATATATATAGTACATACTATACATAAAATATATATATAG TATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar

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