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
DCLK1_chr13_35763652_36136382	35958131	A A	ACTATAAC others(462): Show ACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCACCAT TATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTA CCACTACTGTAACCATCACCACCATCACCACTATAACCACCACTACCACC ACCACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCA CCACTACCACTACTACCACTACTACAACCATTACCACCATCACTGCTATA ACCACCACCACCACCACCATTATCACCATCACCATCACACACCACAACTA CCACCACCACCACCATCACCACTATAACCACTAGCACCACCACTACTATA ACCATCACCACCGCTATAACCACCATCACCACCACCACTACCACTACTAT AACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	230	0.0044	469	c.724 others(488): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGG TGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTG GTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251186	C C	CCACATCC others(462): Show CCACATCCCCCACATCCCCCACACCCCCCACACCCCCCACATCCCCCACA TCCCCCACACCCCCCACACCCCCACACCCCCACACACCCCCCACACCCCC CACACCCCCCACATCCCCCACACCCCCCACACCCCCACACCCCCACACAC CCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCC ACACCCCCCACACCCCCCACACCCCCCACATCCCCAACACCCCCCACATC CCCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCA CACCCCCCACACCCCCCACACCCCCACACACCCCCCACACCCCCCACACC CCCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCACATCCCCCA CATCCCCCACACCCCCCACACCCCCCACATCCCCCACATCCCCCACACCC CCCACACCACACACCCCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	116	0.0086	469	c.207 others(488): Show c.2073+1504_2073+1505insCATCCCCCACATCCCCCACACCCCCC ACACCCCCCACATCCCCCACATCCCCCACACCCCCCACACCCCCACACCC CCACACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCA CACCCCCACACCCCCACACACCCCCCACACCCCCCACACCCCCCACATCC CCCACACCCCCCACATCCCCCACACCCCCCACACCCCCCACACCCCCCAC ATCCCCAACACCCCCCACATCCCCCACACCCCCCACACCCCCCACACCCC CCACATCCCCCACACCCCCCACACCCCCCACACCCCCCACACCCCCACAC ACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCCACACCCC CCACACCCCCCACATCCCCCACATCCCCCACACCCCCCACACCCCCCACA TCCCCCACATCCCCCACACCCCCCACACCACACACCCCCCACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DEPTOR_chr8_119868722_120055918	120021058	C C	CAAATAAA others(462): Show CAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0019 a0007c0013t0019	a0007c0013t0019g0198 a0007c0013t0019g0198	1	198	0.0051	469	c.110 others(490): Show c.1101+11928_1101+11929insTAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHA8_chr1_22558489_22608595	22599827	G G	GAAGGGGA others(462): Show GAAGGGGAGGGAAGAGGAGAGGAGGGGAGGGAAGGGAGGAAGGGAAGGAA GGAAGGAGGGAAGGAGGGAGGGAAGGGAGAGAAGGAGGGAGGGAGTGGGG GAGGAAGGAAGGAAGGGAGGGAAGGAGAGAAGGAACGAGGGAGGGAGTGG GGGAGGGAGGGAGGGAGGGAGGAAGGACAAGAAGGAAGGAGAGAAGGAGG AAAGGAGGGACGGAGGGAAGGAAGGAGGGAAGGGAGAGAAGGAGGGAGGG AGTGGAGGAGGAAGGAAGGGGGGATGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGAGAAGGAAGGAGG AGGGAGGGAGGGAAGGAGGGAGGCAGGAAGGAAGGAAAGAAGGAGGGAAG GAAAGGGAGGGAGGAAGGTGGGAGGGAAAGAAGAAAGGAGGGAAGGAAGG AGAAAGAAGAAAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01934.hp1 HG01975.hp1 others(1): Show HG01346.hp2 HG01934.hp1 HG01975.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0184 a0001c0001t0003g0194 a0001c0001t0003g0196 others(1): Show a0001c0001t0003g0184 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0029g0195	4	342	0.0117	469	c.238 others(486): Show c.2388+781_2388+782insAGGGGAGGGAAGAGGAGAGGAGGGGAGG GAAGGGAGGAAGGGAAGGAAGGAAGGAGGGAAGGAGGGAGGGAAGGGAGA GAAGGAGGGAGGGAGTGGGGGAGGAAGGAAGGAAGGGAGGGAAGGAGAGA AGGAACGAGGGAGGGAGTGGGGGAGGGAGGGAGGGAGGGAGGAAGGACAA GAAGGAAGGAGAGAAGGAGGAAAGGAGGGACGGAGGGAAGGAAGGAGGGA AGGGAGAGAAGGAGGGAGGGAGTGGAGGAGGAAGGAAGGGGGGATGGAGG GAGGAAGGAAGGGAGGGAGGGAGGAAGGAGAGAAGGAGGAAGGAAGGAGG GAAGGAGAGAAGGAAGGAGGAGGGAGGGAGGGAAGGAGGGAGGCAGGAAG GAAGGAAAGAAGGAGGGAAGGAAAGGGAGGGAGGAAGGTGGGAGGGAAAG AAGAAAGGAGGGAAGGAAGGAGAAAGAAGAAAGGAAGGGAA	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241805294	C C	CCCTCAAC others(462): Show CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCGGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	314	0.0032	469	c.11 others(480): Show c.1128_*1129insCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCTCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1008		chr2	TogoVar
GALNS_chr16_88808734_88861947	88831295	C C	CGAGCACG others(462): Show CGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGGAGGAGAGCGGTGAGGCCGAGCACGGGG TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0042 a0001c0004t0001g0042	1	404	0.0025	469	c.100 others(486): Show c.1002+702_1002+703insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCCGCCTCACCGCTGTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCGGCCTCACCGCTCTCCTCCCCCACGCACCCCGTGCTCGGCCTCACCGC TCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGC ACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGC CTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGCTCCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCG TGCTCGGCCTCACCGCTCTCCTCCCCACGCTCCCCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(462): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGAGGAGAGCGGTGAGGCC GAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCG TGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCG GTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAGCAC GGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGA GGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGG CCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTG CGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAG CGGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGC ACGGGGTGCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0162 a0001c0004t0009g0163 a0001c0004t0009g0162 a0001c0004t0009g0163	2	404	0.0050	469	c.100 others(486): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACG CACCCCGTGCTCCGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCCG CCTCACCGCTGTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCC TCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCC GTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCCTCCCCCACGCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(462): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGG GGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGG GGGCGTGGTGATGGGGCTGGATGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGTGCGTGGTGATGGGGGCTGGACGGG GGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGG CGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	183	0.0055	469	c.107 others(488): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTC CAGCCCCCATCACCACGCACCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCATCCAGCCCCATCACCACGCCCCCCCGT CCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCGTCCAGCCCCCATCACCACGCCCCCATC CAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCA GCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(462): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGG GGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGG GCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATGGGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGG GCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGG CGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03579.hp1 HG01175.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0071 a0001c0010t0001g0087 a0001c0002t0001g0071 a0001c0010t0001g0087	2	183	0.0109	469	c.107 others(488): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCCCGTCCAGCCCCCATCACCACGCCCCCGT CCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCAT CCAGCCCCATCACCACGCCCCCCCGTCCAGCCCCATCACCACGCCCCCAT CCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCGTCCAGCCCCCATCACCACGCCCCCATC CAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCA GCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(462): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGG GGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGG GCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATGGGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGT GCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGG CGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0038 a0001c0031t0001g0038	1	183	0.0055	469	c.107 others(488): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCCCGTCCAGCCCCCATCACCACGCACCCGT CCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCAT CCAGCCCCATCACCACGCCCCCCCGTCCAGCCCCATCACCACGCCCCCAT CCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCGTCCAGCCCCCATCACCACGCCCCCATC CAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCA GCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(462): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGACGG GGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGACGGGG GGGCGTGGTGATGGGGCTGGATGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGGCTGGACGGG GGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGG CGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0007 a0001c0042t0007	a0001c0042t0007g0002 a0001c0042t0007g0002	1	183	0.0055	469	c.107 others(488): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTC CAGCCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCATCCAGCCCCATCACCACGCCCCCCCGT CCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCC AGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCATCCA GCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(462): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGACGG GGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGACGGGG GGGCGTGGTGATGGGGCTGGATGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGTGCGTGGTGATGGGGGCTGGACGGG GGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGG CGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02132.hp2 HG02135.hp1 HG02040.hp1 HG02132.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0064 a0001c0001t0001g0127 a0001c0007t0001g0138 a0001c0001t0001g0064 a0001c0001t0001g0127 a0001c0007t0001g0138	3	183	0.0164	469	c.107 others(488): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTC CAGCCCCCATCACCACGCACCCGTCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCCCATCCAGCCCCATCACCACGCCCCCCCGT CCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCC AGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCC AGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCATCCA GCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GBF1_chr10_102240532_102387896	102254775	T T	TATTTCTC others(462): Show TATTTCTCTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTCTTG TTATTTCTGACACAAGATAAATCTTATGCTGCCTGGTAGCCAATGGCCAA GAAATCCCTTGTCACAAGGTCATAAAGGCCTGCAGAAACCTCATAAAAGT ATAGTAGAAACGAACTTAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19007.hp1 HG00609.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0003 a0001c0022t0003 a0001c0001t0003 a0001c0022t0003	a0001c0001t0003g0234 a0001c0022t0003g0235 a0001c0001t0003g0234 a0001c0022t0003g0235	2	330	0.0061	469	c.-10 others(486): Show c.-10-4138_-10-4137insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTC TCTTGTTATTTCTGACACAAGATAAATCTTATGCTGCCTGGTAGCCAATG GCCAAGAAATCCCTTGTCACAAGGTCATAAAGGCCTGCAGAAACCTCATA AAAGTATAGTAGAAACGAACTTAAGATTTCTCTTGTTATTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(462): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGTGTTGGGGAGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGG GAGGTGGGGGGCTAAGAAGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGG GAGGTGGGGGCTGGGGAGGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGG AGGCTGGGGGTGCTGGGCAGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAA GGGGTGGGGGAGGTAGGGAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGG GGAGGCTGGGGGGGTGGGGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGG GGAGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	236	0.0042	469	c.148 others(486): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAACACCCCAGCCTCCCCAGCC CCCCACCTCCCCAGCCTCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTC CCCAGCCTCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCC CCAGACTCCCAGCACCCCCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(462): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA CGCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGG ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0016 a0016	a0016c0040 a0016c0040	a0016c0040t0002 a0016c0040t0002	a0016c0040t0002g0148 a0016c0040t0002g0148	1	155	0.0065	469	c.488 others(484): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG TTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTG TGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC TGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(462): Show CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACACACGCAGACACACACACACACACACAAACACACAGTAAAT ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA CACGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGG ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00099.hp2 HG00280.hp2 HG00639.hp1	a0005 a0006 a0005 a0006	a0005c0010 a0006c0009 a0005c0010 a0006c0009	a0005c0010t0001 a0006c0009t0001 a0005c0010t0001 a0006c0009t0001	a0005c0010t0001g0017 a0005c0010t0001g0019 a0006c0009t0001g0016 a0005c0010t0001g0017 a0005c0010t0001g0019 a0006c0009t0001g0016	3	155	0.0194	469	c.488 others(484): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322968	T T	TATATATA others(462): Show TATATATACATGGAATATATATATATGGAATATATACATGGAATATATAT ATGGAATATATACATATGGAATATATATATGGAATATATACATATGGAAT ATATATATGGAATATATACATATGGAATATATATATGGAATATATACGTA TGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATA TACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGG AATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATAT ATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGA ATATATATATATGGAATATATACGTATGGAATATATATATATATGGAATA TATACGTATGGAATATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	323	0.0031	469	c.-20 others(480): Show c.-2088_-2087insATATATACATGGAATATATATATATGGAATATAT ACATGGAATATATATATGGAATATATACATATGGAATATATATATGGAAT ATATACATATGGAATATATATATGGAATATATACATATGGAATATATATA TGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATA TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATA TATATATATGGAATATATACGTATGGAATATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2001		chr21	TogoVar
INS_chr11_2154779_2166209	2161578	A A	AGACCCCT others(462): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA GACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTA TCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	469	c.-42 others(478): Show c.-429_-428insCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC CGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGATAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGATAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTCCTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		370		chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(462): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTC CCCTCCCCCCTCTCTCTCCCCCTCCCCCTCTCTCCCCTCCCCCTCTCTCC CCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCT CCCCCCTCTCCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCC CCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCC TTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCCTCCTTCCCTCTCTCTCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCTCCCTCTCTCTCT CTCTCCCCCTCCTTCCCCTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	158	0.0063	469	c.11 others(490): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCTCT CCCCTCCCCCTCTCTCCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCC CTCTGTCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTATCCC CCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCT CATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTC CCCCCTCCTTCCCTCTCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCCCCC TCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCC CCCCTCCCTCTCTCTCTCTCTCCCCCTCCTTCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79795508	G G	GATTTACG others(462): Show GATTTACGGGATCACAGGGGGAGAAAAACACACTTGAGGCCTGTCCACAT CTGAGAGACACGGGACTGATTTACGGGATCACAGAGGGAGGGAAACACAC TTGAGGCCTGTCCACGTCTGAGAGACACGGGACTGATTTACGGGATCACA GGGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGAC CGATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACG TCCGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACACA CACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACAGGATCAC AGGGGGAGAAAAACACACTTGAGGCCTGTCCACATCTGAGAGACACGGGA CTGATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCAC GTCTGAGAGACACGGGACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	312	0.0032	469	c.-26 others(480): Show c.-2621_-2620insATTTACGGGATCACAGGGGGAGAAAAACACACTT GAGGCCTGTCCACATCTGAGAGACACGGGACTGATTTACGGGATCACAGA GGGAGGGAAACACACTTGAGGCCTGTCCACGTCTGAGAGACACGGGACTG ATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGTC CGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACACACA CGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACAG GGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACC GATTTACAGGATCACAGGGGGAGAAAAACACACTTGAGGCCTGTCCACAT CTGAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACAC TTGAGGCCTGTCCACGTCTGAGAGACACGGGACCA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding		2429		chr18	TogoVar
KIF25_chr6_167992671_168050091	167997463	T T	TCGGGGGA others(462): Show TCGGGGGAATCTGCAGAGATGGCGACGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGG GGAGTCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAGTCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAGTCTGCAGAGGTGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0325 a0001c0001t0035g0325	1	375	0.0027	469	c.-20 others(480): Show c.-2006_-2005insCGGGGGAATCTGCAGAGATGGCGACGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTG CAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGGTGGGGGCGGGGGAGTCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAGTCTGCAGAGGTGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		207		chr6	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(462): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03831.hp1 HG03490.hp2 HG03492.hp2 HG03831.hp1	a0001 a0026 a0001 a0026	a0001c0002 a0026c0032 a0001c0002 a0026c0032	a0001c0002t0001 a0026c0032t0001 a0001c0002t0001 a0026c0032t0001	a0001c0002t0001g0057 a0001c0002t0001g0058 a0026c0032t0001g0015 a0001c0002t0001g0057 a0001c0002t0001g0058 a0026c0032t0001g0015	3	294	0.0102	469	c.153 others(488): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(462): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	294	0.0034	469	c.153 others(488): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(462): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGG GATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	294	0.0034	469	c.153 others(488): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCCGTGAC ACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(462): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGG GATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	294	0.0034	469	c.153 others(488): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGTGAC ACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858519	C C	CAGTGGTG others(462): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGACTGGTGTC ACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTG TGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTG CAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02559.hp2 others(1): Show HG02109.hp2 HG02486.hp2 HG02559.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0024 a0001c0002t0001g0021 a0001c0002t0001g0288 others(1): Show a0001c0001t0001g0024 a0001c0002t0001g0021 a0001c0002t0001g0288 a0001c0006t0001g0284	4	294	0.0136	469	c.153 others(488): Show c.1530-3814_1530-3813insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACG CGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACGCG TCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGTGACACC AGTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MALRD1_chr10_19043801_19739478	19238523	T T	TATTATAT others(462): Show TATTATATATATTATACATTATATATAATGTATATTATATATTATATATA TTATACATTATATATAATGTATAATATATATTATATATAATATACATTAT ATATAATGTATAATATATATTATATATTATACATTATATATAATGTATAA TATATATTATATATTATACATTATATATAATGTATAATATATATTATATA TAATATACATTATATATAATGTATAATATATATTATATAATATACATAAT GTATATTATATATAATATACATAATGTATATTATATATAATATACATAAT GTATATTATATATAATATACATAATGTATATTATATATAATATACATAAT GTATATTATATATAATATACATAATGTATATTATATATAATATACATTAT GTATATTATATATAATATACATAATGTATATTATATATAATATACATAAT GTATATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0038 a0038	a0038c0107 a0038c0107	a0038c0107t0002 a0038c0107t0002	a0038c0107t0002g0020 a0038c0107t0002g0020	1	152	0.0066	469	c.299 others(490): Show c.2992-19159_2992-19158insTATATATATTATACATTATATATA ATGTATATTATATATTATATATATTATACATTATATATAATGTATAATAT ATATTATATATAATATACATTATATATAATGTATAATATATATTATATAT TATACATTATATATAATGTATAATATATATTATATATTATACATTATATA TAATGTATAATATATATTATATATAATATACATTATATATAATGTATAAT ATATATTATATAATATACATAATGTATATTATATATAATATACATAATGT ATATTATATATAATATACATAATGTATATTATATATAATATACATAATGT ATATTATATATAATATACATAATGTATATTATATATAATATACATAATGT ATATTATATATAATATACATTATGTATATTATATATAATATACATAATGT ATATTATATATAATATACATAATGTATATTATATATAATATACAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(462): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	350	0.0029	469	c.-28 others(480): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667548	C C	CCTCCTTA others(462): Show CCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCACGCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTAC CCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CTACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	378	0.0027	469	c.148 others(488): Show c.1480-2799_1480-2798insAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGAC CCAGTAGTGGGTAAGGCGTGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241805294	C C	CCCTCAAC others(462): Show CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCGGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	319	0.0031	469	c.-39 others(480): Show c.-3984_-3983insCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCTCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3898		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149397	G G	GCTCATAC others(462): Show GCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCATACCACACCCC TAATCCCCTCGGTGAGTGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0195 a0001c0007t0001g0195	1	294	0.0034	469	c.901 others(484): Show c.901+506_901+507insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG CTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(462): Show CCCCCATCCCACCCCTGCCCCCCCCTCCCATCCCACCTCTAAACCCCTCC TCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAA ACCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCCCTCTCCCCATCCCA CCCCTGCACCCTTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCC CTCTGCCCCGGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACAC CCCTGCACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCC TCTGCCCCGGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACC CCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCT CTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCC TTGCACCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	382	0.0026	469	c.270 others(484): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCCTCCCATCCCA CCTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTC CCTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTC CCTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTCCCCATCCCACCC CTGCACCCTTCCTCCCTCTGCCCCGGTCCCACGCCTGTACTCCTCCTCCC TCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCACCCC TGCACCCTTCCTCCCTCTGCCCCGGTCCCACGCCTGTACTCCTCCTCCCT CTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCT GCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTC TGCCCCACCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
OPHN1_chrX_68037344_68438495	68326860	G G	GGGGGGGG others(462): Show GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG02109.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0019 a0001c0001t0003g0020 a0001c0001t0002g0019 a0001c0001t0003g0020	2	155	0.0129	469	c.155 others(488): Show c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326860	G G	GGGGGGGG others(462): Show GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	155	0.0065	469	c.155 others(488): Show c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG CTGGCCGGGCGGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326860	G G	GGGGGGGT others(462): Show GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	155	0.0065	469	c.155 others(488): Show c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGGCTGACCC CCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGC GGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCG ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(462): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATATA TAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	439	0.0023	469	c.-16 others(480): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(462): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	400	0.0025	469	c.70 others(480): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(462): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	400	0.0025	469	c.70 others(480): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(462): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	400	0.0025	469	c.70 others(480): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(462): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	469	c.70 others(480): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(462): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0198 a0002c0001t0001g0198	1	408	0.0025	469	c.-10 others(486): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLEKHG4B_chr5_87168_194966	101466	A A	AGACTGTT others(462): Show AGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTA GGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTC TGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGG AAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC CCTGGAAAAAGTCTGTAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0078 a0001c0053t0078	a0001c0053t0078g0148 a0001c0053t0078g0148	1	210	0.0048	469	c.45+ others(484): Show c.45+9192_45+9193insCTGTTGTGAGGTAAATCCATATAAAGCCCT GGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC CCTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAG CCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATAT AAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCA TATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAAT CCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTT AATCCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAG GTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATCTA others(462): Show TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATGTATTATATACATACATGTATGTATGTATTATATACATACATGTA TGTATGTATTATATACATAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	168	0.0060	469	c.303 others(488): Show c.303+34087_303+34088insGTATGTATATAATACATACATACATG TATGTATATAATACATACATACATGTATGTATATAATACATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(462): Show CTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTC CACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTC CGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCA AGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGAC TCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGG CCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	286	0.0035	469	c.335 others(488): Show c.335-28634_335-28633insTCAGCAGGCCCCTCTGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCA CCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCAC ACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAG GACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162010624	A A	ATATATTA others(462): Show ATATATTATATAATATATATTATATAATATATTATATTATATATTATATA TTATATAATATATTATATTATATATAATATAATATATTATATTATATATA ATATAATATATTATATAATATATTATATATATTAATATTATATATTATAT AATATATTATATATATAATATAATATATTATATAATATATTATATATATT AATATTATATATTATATAATATATTATATATATTAATATTATATATTATA TAATATATTATATATATTAATATTATATATTATATAATATATTATATATA TTAATATTATATATTATATAATATATTATATATATTAATATTATATATTA TATAATATATTATATATATTAATATTATATATTATATAATATATTATATA TATTAATATTATATATTATATAATATATTATATATATTATACATTATATA ATATATATTATATAGTATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	32	0.0313	469	c.619 others(488): Show c.619-37208_619-37207insATATACTATATAATATATATTATATA ATGTATAATATATATAATATATTATATAATATATAATATTAATATATATA ATATATTATATAATATATAATATTAATATATATAATATATTATATAATAT ATAATATTAATATATATAATATATTATATAATATATAATATTAATATATA TAATATATTATATAATATATAATATTAATATATATAATATATTATATAAT ATATAATATTAATATATATAATATATTATATAATATATAATATTAATATA TATAATATATTATATAATATATTATATTATATATATAATATATTATATAA TATATAATATTAATATATATAATATATTATATAATATATTATATTATATA TAATATAATATATTATATTATATATAATATAATATATTATATAATATATA ATATATAATATAATATATTATATAATATATATTATATAATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3639432	T T	TGGGGGTG others(462): Show TGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGG GGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGG GGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGG GGGTCGGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAA GGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGG TGGGGGGGTGGATGGATGAAGGGGTGGGGGGTGGATGGATGAAGGGGTGT GGGGGTGGATGGATGAAGGGGTGGGGGGTGGATGGATGAAGGGGTGGGGG GTGGATGGATGAAGGGGTGTGGGGGTGGATGGATGAAGGGGTGGGGGGGG TGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGG TGGATGGATGAAGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0076 a0001c0002t0057g0076	1	227	0.0044	469	c.719 others(486): Show c.719+2419_719+2420insCCCACCCCTTCATCCATCCACCCCCCCC ACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCC ACCCCTTCATCCATCCACCCCCACACCCCTTCATCCATCCACCCCCCACC CCTTCATCCATCCACCCCCCACCCCTTCATCCATCCACCCCCACACCCCT TCATCCATCCACCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCA TCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATTCA ATCATCCATCCACCCACCCTTCATCCATCCACCCCCCGACCCCCCCACCC CTTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCACCCC TTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCC TTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PTPRT_chr20_42067756_43194906	42993451	T T	TATACACA others(462): Show TATACACACATATATATACACATATATGTGTGTGTGTATATATATATACA CATATATATGTGTGTGTATATATATATACACATATATATAGTGTGTGTAT ATATATACATATATTTGTGTATATATATACATATATGTGTGTGTATATAT ATACATATATGTGTGTGTGTGTATATACATATGTGTGTGTATATATACAC ATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACATAT ATGTGTATATATATACACATATATGTATATATACACACACATATATGTGT ATATATACACACACATATATATGTATATATACACACACATATATGTGTAT ATATACACACACATATATGTATGTGTGTGTATATATATACACATATATGT GTGTGTATATATATACACATATATGTGTGTGTATATATATACACATATAT GTGTGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0007 a0002c0014t0007	a0002c0014t0007g0004 a0002c0014t0007g0004	1	62	0.0161	469	c.89- others(488): Show c.89-107520_89-107519insGTGTATATATATACACACACATATAT GTGTATATATATACACACACATATATGTGTATATATATACACACACATAT ATGTGTATATATATACACACACATACATATATGTGTGTGTATATATACAC ATATATGTGTGTGTATATATACATATATATGTGTGTGTATATATACACAT ATATGTGTGTGTATATATACATATATGTGTATATATATACACATATATGT ATATATACACACACATATATGTGTATATATACACACACATATATGTGTAT ATATACACACACATATGTATATACACACACACACATATATGTATATATAT ACACACACATATATGTATATATATACACAAATATATGTATATATATACAC ACACTATATATATGTGTATATATATATACACACACATATATATGTGTATA TATATATACACACACACATATATGTGTATATATATGTGTGTAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666193	T T	TTTCCTTT others(462): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCCTTCCCTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	280	0.0036	469	c.3+2 others(484): Show c.3+24932_3+24933insGGAAAGGAAGGGAAGGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RPH3AL_chr17_207389_357807	253810	G G	GGGACTAC others(462): Show GGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGGGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCATCTGTCCTTTTCCATCCCTAGGAA TGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	133	0.0075	469	c.439 others(486): Show c.439-6526_439-6525insTATTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGG GATGGAAAAGGACAGATGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCCCATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254513	T T	CGCACGGC others(462): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACATACTTCCTATGAGGGGAG CCGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTC CTGTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTTACTACCCTACG TACTTCCTATGAGGGGAGCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0023 a0011c0014t0023	a0011c0014t0023g0125 a0011c0014t0023g0125	1	133	0.0075	469	c.439 others(486): Show c.439-7228_439-7227insGCTCCCCTCATAGGAAGTACGTAGGGTA GTAACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTCAT AGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAACAGGACAGACAC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCGGCTCCCCTCA TAGGAAGTATGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGG ACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar

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