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
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGTA others(685): Show GTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGTAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGTAGGGCTGCACTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGC TCACCTGTGTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGG GGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCT CACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGG GAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTC ACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0102 a0001c0005t0001g0102	1	295	0.0034	692	c.100 others(709): Show c.100-1631_100-1630insTGGGGTAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGT GTGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGC ACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTG TGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGTAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACA GCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(685): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	348	0.0029	692	c.51+ others(707): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTAGTATACA TACTACATGATATACATAGTAGTATACATACTACATGATATACATAGTAT GTAGTATACATACTACATGATATACATAGTATGTAGTATACATACTACAT GATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CPNE4_chr3_131528569_132040014	131978428	T T	TTTTATAT others(685): Show TTTTATATATATATTTATATATATATTTATATATATTTTTATATATATAT TTATATATATTTATATATATATATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTTTATATATTTATATATATTTATATATATTT ATATATATATTTATATATATATTTATATATATTTATATATATATATTTAT ATATATATTTATATATATTTATATATATATATTTATATATATATTTATAT ATATTTATATATATATATTTATATATATATATATATATATATTTATATAT ATTTATATATATATATTTATATATATATTTATATATATTTATATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATATTT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATATATATTTATATATTTATATATATTTATATATATATTTATATATTTAT ATATATTTATATATATATTTATATATTTATATATATTTATATATATTTAT ATATATTTATATATTTATATATATTTATATATTTATATATATTTATATAT TTATATATATTTATATATTTATATATTTATATATATTTATATATATATTT ATATATTTATATATATTTATATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0092 a0001c0003t0016g0092	1	42	0.0238	692	c.-2+ others(709): Show c.-2+56138_-2+56139insTATAAATATATATAAATATATATATAAA TATATATAAATATATAAATATATATATAAATATATATAAATATATAAATA TATAAATATATATAAATATATAAATATATATAAATATATAAATATATATA AATATATAAATATATATAAATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATAAATATATATATAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATAAATATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATATAAATATATATAAATATATATATAAA TATATATATATAAATATATATAAATATATATATATATATATATATAAATA TATATATATAAATATATATAAATATATATATAAATATATATATATAAATA TATATAAATATATATATAAATATATATATATAAATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATATAAATATATAAAAATA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TATAAATATATATAAATATATATATAAAAATATATATAAATATATATATA AATATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240923992	C C	CCCCAACA others(685): Show CCCCAACACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCA GCCCCCACACTAATCCGGCCCCCACACTGACCCGGCCCCCACACTAACCC AGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACC CAGTCCCCACACTAACCCGGCCCCCCACACTACCCCGGCCCCCACACTGA CCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCA CACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCC CACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0313 a0002c0002t0002g0313	1	320	0.0031	692	c.488 others(709): Show c.488+1350_488+1351insAACACTAACCCGGCCCCCACACTGACCC AGCCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCACACTGACC CGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTA CCCCGGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACAC TAACCCAGTCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCAC ACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCC ACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCC CCACACTGACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCC CCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCA GCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACC CGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCAC ACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647246	T T	TCAATCCT others(685): Show TCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCA CACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTC CTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCC TCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCAC ACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCC TCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCAC AATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCC ACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0133 a0002c0002t0016g0133	1	241	0.0041	692	c.51 others(703): Show c.5106_*5107insCAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCC TCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCAC ACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCC TCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAAT CCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCC TCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCT CCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACA CCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCT CCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCT CCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTC CTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1902		chr15	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(685): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGCGAGGCT AGAAGGAGGGAGGGATGGAGGGAGGGATGGAAGGATGGAGGGAGGAAAGA ATGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGAATGGAGGGAG GGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGA AGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAGGGAGGGAG GGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGA ATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAG AGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGG AAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAA GAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGG AAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAA GACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGA ATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0033 a0033	a0033c0013 a0033c0013	a0033c0013t0006 a0033c0013t0006	a0033c0013t0006g0112 a0033c0013t0006g0112	1	2	0.5000	692	c.415 others(713): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCC TCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATT CTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATCCTTCCATCCCTCCC TCCATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCTGTCCTCCCCTCCCTC CCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCC TCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(685): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTG AGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGC AGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0155 a0001c0003t0001g0155	1	144	0.0069	692	c.17 others(703): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCCTCACCC CGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTG GCCCTTCCTCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCC CGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTG GCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCC CGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCC TCAGCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTG TGACCCTCAGCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCC TGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAC CCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATA others(685): Show ATATAATATAATTATATATAATATATAATATATAATTATATATAATATAT AATATATATTATATATAATTATATATTATATATAATTATATATTATATAT AATATATAATATATAATTATATATTATATATAATATATAATTATATATAA TATATAATATATTATATATTATATATATTATATAAATATATAATATATTA TATATAATTATATAATATATTATATATAATATATATGTTATATATTATAT ATATTATATATTATATATATATTATATATATAATATATATTATATATTAA ATTATATATAATATATATTATATATATAATTTATATATATAAAATATATT ATATATTATATAAATATATATATTTTATATATATAAAATATATATTTTAT AATATATAATATAGAAATATATATTATATAATATATAATTATATATAATT ATATATTATATAATATATATTTCTATATTATATATTTATAATGTATAATA TATAAATATATTATAAATATATATTATATACTATATAATGCATTATAAAT ATATTATATTTATATATTATAAATATATTACATATTTATATATTATATAT ATAATATATATATTATATATTATAAATATATTTTATAAAATATAATATAT ATATTATATATTATATTTTATAAAATATAATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02148.hp2 HG01496.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0003 a0001c0001t0012 a0001c0002t0003	a0001c0001t0012g0172 a0001c0002t0003g0171 a0001c0001t0012g0172 a0001c0002t0003g0171	2	93	0.0215	692	c.551 others(711): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATATATTATATATATAATATATAAATATGTAATATATTTATA ATATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATA TTTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATA TATATTATATAATATATAATTATATATAATTATATATTATATAATATATA TTTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATAT ATATTTATATAATATATAATATATTTTATATATATAAATTATATATATAA TATATATTATATATAATTTAATATATAATATATATTATATATATAATATA TATATAATATATAATATATATAATATATAACATATATATTATATATAATA TATTATATAATTATATATAATATATTATATATTTATATAATATATATAAT ATATAATATATTATATATTATATATAATTATATATTATATATAATATATA ATTATATATTATATATTATATATAATATATAATTATATATAATATATAAT TATATATAATATATATTATATATTATATATAATTATATATTATATATTAT ATATAATTATATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(685): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGG GAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCT GCCCACCCTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCAC CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCAC CCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACC CTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCTCCTCTG CATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTC AGGGAGCCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAA CCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCC ACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCC ACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGA CCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCT CTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03579.hp2 HG02109.hp1 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0115 a0001c0005t0001g0010 a0001c0005t0001g0115	2	182	0.0110	692	c.14 others(703): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGC AGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGAT GCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGG AGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGG AGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAAGGGTG GGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGA GGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(685): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACC CTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCT CCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGC ATCCTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTC AGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAC CTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCA CCCTCCACCCTGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCC ACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGA CCCTCCTCTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCT CTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	181	0.0055	692	c.14 others(703): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGC AGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCAG GGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAG GATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGGC AGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGCTC CCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGG ATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGG TGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGAAGGGT CGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGG AAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGT TCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGA GGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(685): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCCACCC TCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTG CATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTC AGGGAACCTGCCCACCTTCCACCCCGACCCTCCTCCGCATCCTCAGGGAA GCTGCCCAACCTCCACCCCACCCTCCTCCGAATCCTCAGGGAACCTGCCC ACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCC ACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGA CCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCT CTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03130.hp2 HG02922.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0132 a0001c0001t0001g0133	2	182	0.0110	692	c.14 others(703): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGTTCCCTGAGGATTCGGAGGAGGGTGGGGTGGAGG TTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAAGGTGGGC AGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCC CTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGA TGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTC GGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGG AAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGT TCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGA GGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(685): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTC CGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCGACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCC TCCGAATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCCGAA TCCTCAGGGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCA GGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAAGGAACC TGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02273.hp2 HG01993.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	338	0.0059	692	c.13 others(703): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTCGGGT GGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGAT GGGCAGGTTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGTGGGCAGG TTCCCTGAGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCT GAGGATGCGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATG CAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGA GGTCAGGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
EXD3_chr9_137301896_137428162	137329823	G G	GGGACTAC others(685): Show GGGACTACACGGGGCTACACGGGACTACACGGGGTGACACGGGACTACAC GGGGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTACAC GGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTAC ACGGGGCTACACGGGGCTACACGGGACTACACGGGACTACACGGGGCTAC ACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTA CACGGGGCTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCT ACACGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGC TACACGGGACTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGA CTACACGGGGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGGA GCTACACGGGACTACACGGGACTACACGGGACTACACAGGGTCACACGGG ACTACACGGGACTACACGGGACTACACAGGAACTACACAGGGTCACACAG GACTACACCGGAGCTACACGGGACTACACAGGACTACACAGGACTATGCA GGACCACACAGGAGCTATACAGGAGCTACACGGGACTACACAGGACTACA CGGGACTACACCGGAACTACACAGGGTCACACAGGACTACACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0014 a0005c0009t0001g0014	1	15	0.0667	692	c.199 others(711): Show c.1999-5681_1999-5680insTGTGTAGTCCTGTGTGACCCTGTGTA GTTCCGGTGTAGTCCCGTGTAGTCCTGTGTAGTCCCGTGTAGCTCCTGTA TAGCTCCTGTGTGGTCCTGCATAGTCCTGTGTAGTCCTGTGTAGTCCCGT GTAGCTCCGGTGTAGTCCTGTGTGACCCTGTGTAGTTCCTGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCC CGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTC CCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAG CCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTA GCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTA GCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGT AGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTG TAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTCACCCCGTGTAGTCCCGTG TAGCCCCGTGTAGTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FLT3_chr13_27998274_28105576	27999069	G G	GTATATAA others(685): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATTTATATAT ATAAATATATATATTTATATATATAAATATATATATTTATATATATAAAT ATATATATTTATATATATAAATATATATATTTATATATATAAATATATAT ATTTATATATATATAAATATATATATATTTATATATATAAATATATATAT TTATATATATATAAATATATATATATTTATATGTATATAAATATATATAT TTATATATATATACATATAAATATATATTTATATACATATAAATATATAA TTATATACATATAAATATATATAATTATATACATATAAATATATATTTAT ATACATATAAATATATATTTATATACATATAAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02895.hp2 HG02897.hp1 HG01496.hp2 HG02895.hp2 HG02897.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0288 a0005c0013t0002g0291 a0005c0013t0002g0292 a0005c0013t0002g0288 a0005c0013t0002g0291 a0005c0013t0002g0292	3	170	0.0176	692	c.49 others(703): Show c.4982_*4983insAATATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAAATATATATTTATATGTATA TATATATAAATATATATATTTATATACATATAAATATATATATATTTATA TATATATAAATATATATATTTATATATATAAATATATATATATTTATATA TATATAAATATATATATTTATATATATAAATATATATATTTATATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATATATAAATATATATATTTATATATATAAATATATATATTTATATA TATAAATATATATTTATATGTATATATGTATATGTATTATATGTATATAA ATATATATATTTATATGTTTGTAAATATATATTTATATGTATGTAAATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATAT TTATATGTATATAAATATATATATTTATATGTATATAATATACATACATA TATATTATATACATATATATTTATATGTATATAATATACATACATATATA TTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4204		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(685): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATATAAATATATATATATTTAT ATATATATATTTATATATATATAAATATATATATATTTATATATATATAA ATATATATATTTATATATATATACATATAAATATATATTTATATACATAT AAATATATAATTATATACATATAAATATATATAATTATATACATATAAAT ATATATTTATATACATATAAATATATATTTATATACATATAAATATATAT ATTTATATACATATAAATTTATATACATATAAATATATATATTTATATAC ATATAAATATATATATTTATATACATATAAATTTATATACATATAAATAT ATATATTTATATTTATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0210 a0003c0003t0001g0210	1	28	0.0357	692	c.49 others(703): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATTTATATGTATATAATTATATATATTTATATGTATATAAT TATATATTTATATGTATATAAATATATATTTATATGTATATATATATAAA TATATATATTTATATATATATAAATATATATATATTTATATATATATAAA TATATATATATAAATATATATATATTTATATATATATAAATATATATATT TATATATATAAATATATATATTTATATATATAAATATATATATTTATATA TATAAATATATATTTATATGTATATATGTATATGTATTATATGTATATAA ATATATATATTTATATGTTTGTAAATATATATTTATATGTATGTAAATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATAT TTATATGTATATAAATATATATATTTATATGTATATAATATACATACATA TATATTATATACATATATATTTATATGTATATAATATACATACATATATA TTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FUT7_chr9_137025174_137037088	137034336	G G	GGGGGGTT others(685): Show GGGGGGTTTGGAGGGAGGGGGGCTGGAGGGAGGGGGCTTGGAGGGAGGGG GTTTGGGGAGGCTAAAGGGAGGGGAACTTGGAAGGAGGGGGGGTTTGGAG GGAGAGGGGTTTGGAGGGAGGGTGGCTTGGAGGGAGGGGGGTTTGGAGGG AGGGGGCTTGGAGAGAGGGGGGTTTGGAGGGAGGGGGCTGGAGGGAGGGG AGCTTGGAGGGGAGCTTGGAGGGGGTTCGGAGGGGGGGCTTGGAGGGAGG GGAGTTTGGAGGGAGGGGAGCTTGGAGGGAGGGGGGTTTAGAGGGAGGGA GCTGGAGGGAGGGGAGCTTGGAGGGGAGCTTGGAGGGAGGGGGTTCGGAG GGGGGACTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGAGGGAGGG GGGCTTGGAGGGAGGGGAGTTTGGAGGGAGGGGGCTGGAGGGAGGGGAGC TTGGTGGGGAGCTTGGAGGGAGGGGAGCTTGGAAGGAGGGGGGTTTGGAG GGAGGGGGTTTGGAGGGAGGGCGGCTTGGAGGGAGGGGGGTTTGGAGGGG GGGGGCTTGGAGAGGGGGGTTTGGAAGGAGGGGACGAGGGAGGGGAGCTT GGAGGGGAGCTTGGAGGGAGGGGGTTCGGAGTGGGGGCTTGGAGGGAGGG GGCTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	34	0.0294	692	c.-23 others(703): Show c.-2346_-2345insTCCCTCCAAGCCCCCCTCCCTCCAAGCCCCCTCC CTCCAAGCCCCCTCCCTCCAAGCCCCCACTCCGAACCCCCTCCCTCCAAG CTCCCCTCCAAGCTCCCCTCCCTCGTCCCCTCCTTCCAAACCCCCCTCTC CAAGCCCCCCCCCTCCAAACCCCCCTCCCTCCAAGCCGCCCTCCCTCCAA ACCCCCTCCCTCCAAACCCCCCTCCTTCCAAGCTCCCCTCCCTCCAAGCT CCCCACCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACTCCCCTCCC TCCAAGCCCCCCTCCCTCCAAGCCCCCCTCCCTCCAAGCCCCCTCCCTCC AAGTCCCCCCTCCGAACCCCCTCCCTCCAAGCTCCCCTCCAAGCTCCCCT CCCTCCAGCTCCCTCCCTCTAAACCCCCCTCCCTCCAAGCTCCCCTCCCT CCAAACTCCCCTCCCTCCAAGCCCCCCCTCCGAACCCCCTCCAAGCTCCC CTCCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACCCCCCTCTCTCC AAGCCCCCTCCCTCCAAACCCCCCTCCCTCCAAGCCACCCTCCCTCCAAA CCCCTCTCCCTCCAAACCCCCCCTCCTTCCAAGTTCCCCTCCCTTTAGCC TCCCCAAACCCCCTCCCTCCAAGCCCCCTCCCTCCAGCCCCCCTCCCTCC AAACCCCC	FUT7	ENSG00000180549.8	transcript	ENST00000314412.7	protein_coding		2249		chr9	TogoVar
FUT7_chr9_137025174_137037088	137034336	G G	GGGGGGTT others(685): Show GGGGGGTTTGGAGGGAGGGGGGCTGGAGGGAGGGGGCTTGGAGGGAGGGG GTTTGGGGAGGCTAAAGGGAGGGGAACTTGGAAGGAGGGGGGTTTGGAGG GAGAGGGGTTTGGAGGGAGGGTGGCTTGGAGGGAGGGGGGTTTGGAGGGA GGGGGCTTGGAGAGAGGGGGGTTTGGAGGGAGGGGGCTGGAGGGAGGGGA GCTTGGAGGGGAGCTTGGAGGGGGTTCGGAGGGGGGGCTTGGAGGGAGGG GAGTTTGGAGGGAGGGGAGCTTGGAGGGAGGGGGGTTTAGAGGGAGGGAG CTGGAGGGAGGGGAGCTTGGAGGGGAGCTTGGAGGGAGGGGGTTCGGAGG GGGGACTTGGAGGGAGGGGGCTTGGGAGGGAGGGGGGCTTGGAGGGAGGG GGGCTTGGAGGGAGGGGAGTTTGGAGGGAGGGGGCTGGAGGGAGGGGAGC TTGGTGGGGAGCTTGGAGGGAGGGGAGCTTGGAAGGAGGGGGGTTTGGAG GGAGGGGGGTTTGGAGGGAGGGCGGCTTGGAGGGAGGGGGGTTTGGAGGG GGGGGCTTGGAGAGGGGGGTTTGGAAGGAGGGGACGAGGGAGGGGAGCTT GGAGGGGAGCTTGGAGGGAGGGGGTTCGGAGTGGGGGCTTGGAGGGAGGG GGCTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	34	0.0294	692	c.-23 others(703): Show c.-2346_-2345insTCCCTCCAAGCCCCCCTCCCTCCAAGCCCCCTCC CTCCAAGCCCCCTCCCTCCAAGCCCCCACTCCGAACCCCCTCCCTCCAAG CTCCCCTCCAAGCTCCCCTCCCTCGTCCCCTCCTTCCAAACCCCCCTCTC CAAGCCCCCCCCTCCAAACCCCCCTCCCTCCAAGCCGCCCTCCCTCCAAA CCCCCCTCCCTCCAAACCCCCCTCCTTCCAAGCTCCCCTCCCTCCAAGCT CCCCACCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACTCCCCTCCC TCCAAGCCCCCCTCCCTCCAAGCCCCCCTCCCTCCCAAGCCCCCTCCCTC CAAGTCCCCCCTCCGAACCCCCTCCCTCCAAGCTCCCCTCCAAGCTCCCC TCCCTCCAGCTCCCTCCCTCTAAACCCCCCTCCCTCCAAGCTCCCCTCCC TCCAAACTCCCCTCCCTCCAAGCCCCCCCTCCGAACCCCCTCCAAGCTCC CCTCCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACCCCCCTCTCTC CAAGCCCCCTCCCTCCAAACCCCCCTCCCTCCAAGCCACCCTCCCTCCAA ACCCCTCTCCCTCCAAACCCCCCTCCTTCCAAGTTCCCCTCCCTTTAGCC TCCCCAAACCCCCTCCCTCCAAGCCCCCTCCCTCCAGCCCCCCTCCCTCC AAACCCCC	FUT7	ENSG00000180549.8	transcript	ENST00000314412.7	protein_coding		2249		chr9	TogoVar
FUT7_chr9_137025174_137037088	137034336	G G	GGGGGGTT others(685): Show GGGGGGTTTGGAGGGGAGGGGGGCTGGAGGGAGGGGGCTTGGAGGGAGGG GGTTTGGGGAGGCTAAAGGGAGGGGAACTTGGAAGGAGGGGGGTTTGGAG GGAGAGGGGTTTGGAGGGAGGGTGGCTTGGAGGGAGGGGGGTTTGGAGGG AGGGGGCTTGGAGAGAGGGGGGTTTGGAGGGAGGGGGCTGGAGGGAGGGG AGCTTGGAGGGGAGCTTGGAGGGGGTTCGGAGGGGGGGCTTGGAGGGAGG GGAGTTTGGAGGGAGGGGAGCTTGGAGGGAGGGGGGTTTAGAGGGAGGGA GCTGGAGGGAGGGGAGCTTGGAGGGGAGCTTGGAGGGAGGGGGTTCGGAG GGGGGACTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGAGGGAGGG GGGCTTGGAGGGAGGGGAGTTTGGAGGGAGGGGGCTGGAGGGAGGGGAGC TTGGTGGGGAGCTTGGAGGGAGGGGAGCTTGGAAGGAGGGGGGGTTTGGA GGGAGGGGGTTTGGAGGGAGGGCGGCTTGGAGGGAGGGGGGTTTGGAGGG GGGGGCTTGGAGAGGGGGGTTTGGAAGGAGGGGACGAGGGAGGGGAGCTT GGAGGGGAGCTTGGAGGGAGGGGGTTCGGAGTGGGGGCTTGGAGGGAGGG GGCTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	34	0.0294	692	c.-23 others(703): Show c.-2346_-2345insTCCCTCCAAGCCCCCCTCCCTCCAAGCCCCCTCC CTCCAAGCCCCCTCCCTCCAAGCCCCCACTCCGAACCCCCTCCCTCCAAG CTCCCCTCCAAGCTCCCCTCCCTCGTCCCCTCCTTCCAAACCCCCCTCTC CAAGCCCCCCCCTCCAAACCCCCCTCCCTCCAAGCCGCCCTCCCTCCAAA CCCCCTCCCTCCAAACCCCCCCTCCTTCCAAGCTCCCCTCCCTCCAAGCT CCCCACCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACTCCCCTCCC TCCAAGCCCCCCTCCCTCCAAGCCCCCCTCCCTCCAAGCCCCCTCCCTCC AAGTCCCCCCTCCGAACCCCCTCCCTCCAAGCTCCCCTCCAAGCTCCCCT CCCTCCAGCTCCCTCCCTCTAAACCCCCCTCCCTCCAAGCTCCCCTCCCT CCAAACTCCCCTCCCTCCAAGCCCCCCCTCCGAACCCCCTCCAAGCTCCC CTCCAAGCTCCCCTCCCTCCAGCCCCCTCCCTCCAAACCCCCCTCTCTCC AAGCCCCCTCCCTCCAAACCCCCCTCCCTCCAAGCCACCCTCCCTCCAAA CCCCTCTCCCTCCAAACCCCCCTCCTTCCAAGTTCCCCTCCCTTTAGCCT CCCCAAACCCCCTCCCTCCAAGCCCCCTCCCTCCAGCCCCCCTCCCCTCC AAACCCCC	FUT7	ENSG00000180549.8	transcript	ENST00000314412.7	protein_coding		2249		chr9	TogoVar
GALNT17_chr7_71127144_71718599	71680423	C C	CTTCCTCC others(685): Show CTTCCTCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC CCTGTCTTCCTCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCCTCTCTCCCTTCCTTCCCTCCCTCCCTGTCTTCCTCCCTCCTCT CTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTCCCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTCCT CCCTCCCCTCTCTCTCTTCCTCCCTCCCTCTCTCTCTTCCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCCTCTCCCTTCCTCCCTCCCTCCCTGT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	73	0.0137	692	c.150 others(711): Show c.1500+3117_1500+3118insTTCCTCCTCCCTGTCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCTCCCTCTCTCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCCTCTCTCCCTTCCTTCCCTCC CTCCCTGTCTTCCTCCCTCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTT CCTCCCTCCCTCTCTCTCTCCCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCT TCCTCCCTCCCTCTCTCTCTCCTCCCTCCCCTCTCTCTCTTCCTCCCTCC CTCTCTCTCTTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCTCCCTCTCTCTCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCCTCTCCCTTC CTCCCTCCCTCCCTGT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10			chr7	TogoVar
GP6_chr19_55008705_55043264	55032898	C C	CGTGTTAG others(685): Show CGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACACGGAGGGCTCGTTCG TGTTAGACACAGTGGGCTCGTTCGTGTTAGACACGGTGGACTCGTTCGTG TTAGACGCGGTGGGTTCGTTCGTGTTAGACACGGAGGGCTCGTTCGTGTT AGACACGGTGGACTCGTTCGTGTTAGACACGGTGGGTTCGTTCGTGTTAG ACACGGAGGGCTCGTTCGTGTTAGACACGGAGGGCTCGTTCGTGTTAGAC ACGGAGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTCGTGTTAGACGCGGAGGGCTCGTTCGTGTTAGACGCGG TGGGCTCGTTGGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTG GGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGG CTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACACGGT GGACTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACAC GGTGGACTCGTTCGTGTTAGACACGGTGGACTCGTTCGTGTTAGACACGG TGGGTTCGTTCGTGTTAGACACGGTGGGTTCGTTCGTGTTAGACGCGGTG GACTCCTTCGTGTTGTGTTAGACACGGTGGACTCGTTTGTGTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19240.hp1 HG02970.hp2 NA19240.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0086 a0010c0012t0002g0087 a0010c0012t0002g0086 a0010c0012t0002g0087	2	439	0.0046	692	c.35- others(705): Show c.35-361_35-360insAACACAAACGAGTCCACCGTGTCTAACACAAC ACGAAGGAGTCCACCGCGTCTAACACGAACGAACCCACCGTGTCTAACAC GAACGAACCCACCGTGTCTAACACGAACGAGTCCACCGTGTCTAACACGA ACGAGTCCACCGTGTCTAACACAACACGAACGAGTCCACCGCGTCTAACA CGAACGAGTCCACCGTGTCTAACACAACACGAACGAGTCCACCGCGTCTA ACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACAC CAACGAGCCCACCGCGTCTAACACGAACGAGCCCTCCGCGTCTAACACGA ACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAAC GAGCCCTCCGTGTCTAACACGAACGAGCCCTCCGTGTCTAACACGAACGA GCCCTCCGTGTCTAACACGAACGAACCCACCGTGTCTAACACGAACGAGT CCACCGTGTCTAACACGAACGAGCCCTCCGTGTCTAACACGAACGAACCC ACCGCGTCTAACACGAACGAGTCCACCGTGTCTAACACGAACGAGCCCAC TGTGTCTAACACGAACGAGCCCTCCGTGTCTAACACGAACGAACCCACCG CGTCTAACAC	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(685): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATATATATTTATA TATATATATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATATTTATATTTATATT TATATATTTATATTTATATATATAAATATATATATTTATATTTATTTATA TATATAAATATATATATTAATATATATTTATATATATAAATATATATATT TATATATAAATATATATTTATGTATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATATTTATATTTACAAATATATATATTTATATATATA TTTATATTTATATATATTTATATTTATATATATATATATAAATATATATT TATGTATATTTATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	95	0.0105	692	c.-97 others(709): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATATAT ATTTATATATATATATAAATATATATATTTATATTTATTTATATATATAA ATATATATATTTATATTTATTTATATATATATAAATATATATATTTATAT TTATATTTATATATTTATATTTATATATATAAATATATATATTTATATTT ATTTATATATATAAATATATATATTAATATATATTTATATATATAAATAT ATATATTTATATATAAATATATATTTATGTATATTTATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATAAATATATATATTTATATATAAATATATATATTT ATATATATATTTATATATAAATATATATATTTATATATAAATATATATAT TTATATATATAAATATATATATATTTATATTTACAAATATATATATTTAT ATATATATTTATATTTATATATATTTATATTTATATATATATATATAAAT ATATATTTATGTATATTTATATATAAATATAAATATATATTTATATATAA ATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587387	A A	AAAATAAA others(685): Show AAAATAAAATAAAAATAAATTGAATATAAATTGACTCTCCTTGTAACCAT ACAGTAGCTTCTCGTATCTATTTAAATAAAATTCAGTCCGGCCGCGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATC TGAGGTCAGGAGTTCGAGACCAGCATGGTCAACATGGTGATACCCGATGT CTACTAAAAATACAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGC CTGTAATCTCAGATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCA GGGAGGCGAAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCT GGGCAACAAGAACGAAACTCCGTCTCAAAAAAAAAAAAAATAGGCCAGGC GTGGTGGCTCACACCTGTAGTCTCAGCACTTTGGGAGGCTGAGGCAGGTG GATCACGAGGTCAGGAGATGGAGACCACCCTGGTTAACATGACAAAATGC CCTCACTACTAAAAATACTAAAAATTAGCCAGGCGTGGTGGCAGGTGCCT GTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAG GAGGTGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGG GCAACAAAGCGAGACTCCATCTTAAAAAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(16): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01106.hp2 HG01192.hp1 HG01257.hp1 HG02148.hp2 HG02572.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 NA20129.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(2): Show a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 a0002c0002t0005g0058 a0002c0002t0005g0059	19	203	0.0936	692	c.100 others(709): Show c.100+2255_100+2256insATTTATTTATTTATTTTTTTAAGATGGA GTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC TGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCT AGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTAGTA TTTTTAGTAGTGAGGGCATTTTGTCATGTTAACCAGGGTGGTCTCCATCT CCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGAGACTACA GGTGTGAGCCACCACGCCTGGCCTATTTTTTTTTTTTTTGAGACGGAGTT TCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTG CAACCTTCGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAG TATCTGAGATTACAGGCACCCACCACCATACCTGGCTAATTTTTATTTTT TTGTATTTTTAGTAGACATCGGGTATCACCATGTTGACCATGCTGGTCTC GAACTCCTGACCTCAGATAATCTGTCTGCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCGCGGCCGGACTGAATTTTATTTAAATAGAT ACGAGAAGCTACTGTATGGTTACAAGGAGAGTCAATTTATATTCAATTTA TTTTTATTTTATTT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587387	A A	AAAATAAA others(685): Show AAAATAAAATAAAAATAAATTGAATATAAATTGACTCTCCTTGTAACCAT ACAGTAGCTTCTTGTATCTATTTAAATAAAATTCAGTCCGGCCGCGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATC TGAGGTCAGGAGTTCGAGACCAGCATGGTCAACATGGTGATACCCGATGT CTACTAAAAATACAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGC CTGTAATCTCAGATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCA GGGAGGCGAAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCT GGGCAACAAGAACGAAACTCCGTCTCAAAAAAAAAAAAAATAGGCCAGGC GTGGTGGCTCACACCTGTAGTCTCAGCACTTTGGGAGGCTGAGGCAGGTG GATCACGAGGTCAGGAGATGGAGACCACCCTGGTTAACATGACAAAATGC CCTCACTACTAAAAATACTAAAAATTAGCCAGGCGTGGTGGCAGGTGCCT GTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAG GAGGTGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGG GCAACAAAGCGAGACTCCATCTTAAAAAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG02486.hp1 others(2): Show HG00741.hp2 HG02109.hp1 HG02486.hp1 HG02965.hp1 HG03486.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0010 a0014c0016t0012 a0014c0016t0010 a0014c0016t0012	a0014c0016t0010g0060 a0014c0016t0012g0018 a0014c0016t0010g0060 a0014c0016t0012g0018	5	189	0.0265	692	c.100 others(709): Show c.100+2255_100+2256insATTTATTTATTTATTTTTTTAAGATGGA GTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCAC TGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCT AGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTAGTA TTTTTAGTAGTGAGGGCATTTTGTCATGTTAACCAGGGTGGTCTCCATCT CCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGAGACTACA GGTGTGAGCCACCACGCCTGGCCTATTTTTTTTTTTTTTGAGACGGAGTT TCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTG CAACCTTCGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAG TATCTGAGATTACAGGCACCCACCACCATACCTGGCTAATTTTTATTTTT TTGTATTTTTAGTAGACATCGGGTATCACCATGTTGACCATGCTGGTCTC GAACTCCTGACCTCAGATAATCTGTCTGCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCGCGGCCGGACTGAATTTTATTTAAATAGAT ACAAGAAGCTACTGTATGGTTACAAGGAGAGTCAATTTATATTCAATTTA TTTTTATTTTATTT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587399	A A	AAATAAAT others(685): Show AAATAAATTGAATATAAATTGACTCTCCTTGTAACCATACAGTAGCTTCT CGTATCTATTTAAATAAAATTCAGTCCGGCCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATCTGAGGTCAGGAG TTCGAGACCAGCATGGTCAACATGGTGATACCCCATGTCTACTAAAAATA CAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGCCTGTAATCTCAG ATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGG TTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAA CGAAACTCCGTCTCAAAAAAAAAAAAAATAGGCCAGGCGTGGTGGCTCAC ACCTGTAGTCTCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTC AGGAGATGGAGACCACCCTGGCTAACATGACGAAATGCCCTCACTACTAA AAATACTAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCT ACTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCTT GCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAAGCGA GACTCCATCTCAAAAAATAAATAAATAAATAAATAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp2 HG02280.hp1 NA18522.hp2	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0012 a0023c0022t0012	a0023c0022t0012g0026 a0023c0022t0012g0026	2	158	0.0127	692	c.100 others(709): Show c.100+2243_100+2244insATTTTATTTATTTATTTATTTATTTATT TTTTGAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCGTG ATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGC TAATTTTTAGTATTTTTAGTAGTGAGGGCATTTCGTCATGTTAGCCAGGG TGGTCTCCATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGT GCTGAGACTACAGGTGTGAGCCACCACGCCTGGCCTATTTTTTTTTTTTT TGAGACGGAGTTTCGTTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAAT CTCGGCTCACTGCAACCTTCGCCTCCCTGGTTCAAGTGATTCTCCTGCCT CAGCTTCCCAAGTATCTGAGATTACAGGCACCCACCACCATACCTGGCTA ATTTTTATTTTTTTGTATTTTTAGTAGACATGGGGTATCACCATGTTGAC CATGCTGGTCTCGAACTCCTGACCTCAGATAATCTGTCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGGCCGGACTGAATTTT ATTTAAATAGATACGAGAAGCTACTGTATGGTTACAAGGAGAGTCAATTT ATATTCAATTTATT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(685): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	119	0.0084	692	c.41- others(707): Show c.41-3554_41-3553insAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(685): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATATATGGAATATATATACGGAATGTATATACGGAATATATATATATGG AATATATATACGGAATATATATATATGGAATATATATACGGAATATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATACATATGGAATATATATA CGGAATATATACATATGGAACATATATATACGGAATATATACATATGGAA CATATATATACGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATACATATGGAACATATATATGGAAT ATATACATATGGAACATATATATGGAATATATACATATGGAATATATACA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0115 a0003c0003t0032g0115	1	62	0.0161	692	c.-21 others(703): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATATATGGAATATATATACGGAATGTATATACGG AATATATATATATGGAATATATATACGGAATATATATATATGGAATATAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATACA TATGGAATATATATACGGAATATATACATATGGAACATATATATACGGAA TATATACATATGGAACATATATATACGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATACATATGGA ACATATATATGGAATATATACATATGGAACATATATATGGAATATATACA TATGGAATATATACATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(685): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACACACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACACAAACCACACAACACACACACAC ATACACACCACAAGCACACCACACACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02004.hp2 HG02486.hp1 others(6): Show HG01192.hp1 HG02004.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0002t0001g0040 a0001c0002t0001g0131 a0001c0002t0001g0157	9	12	0.7500	692	c.41 others(703): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGTGG TGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGTATG TGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTGTG GTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTGTA CAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGATGTGTGTGGTA TGTGTGGTGTGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGT ATGTGGGGTGTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGT GTGTGGTGTGTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGA GTGTGTGGGGTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTG TGTGTGGTCTGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGT TGGTGTGTGTGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATG TGTGTGAGGTGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGT GTGTGGTGTGTGTGTGGTGCATGTGTGGTGTATGTGTGTGGTGTGTGTGG TGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(685): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACGCACA GACCACACACACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACACAAACCACACAACACACACACAC ATACACACCACAAGCACACCACACACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp1 others(48): Show HG00408.hp2 HG00438.hp1 HG00621.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02717.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03471.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18975.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp1 NA19091.hp2 NA19240.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0002 a0006c0007 a0007c0006 a0001c0002 a0006c0007 a0007c0006	a0001c0002t0001 a0001c0002t0005 a0006c0007t0001 others(1): Show a0001c0002t0001 a0001c0002t0005 a0006c0007t0001 a0007c0006t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0038 others(12): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0038 a0001c0002t0001g0049 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0112 a0001c0002t0001g0138 a0001c0002t0001g0148 a0001c0002t0005g0027 a0001c0002t0005g0073 a0006c0007t0001g0088 a0007c0006t0001g0087	51	54	0.9444	692	c.41 others(703): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGTGG TGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGTATG TGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTGTG GTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTGTA CAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGATGTGTGTGGTA TGTGTGGTGTGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGT ATGTGGGGTGTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGT GTGTGGTGTGTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGA GTGTGTGGGGTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTG TGTGTGGTCTGTGCGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGT TGGTGTGTGTGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATG TGTGTGAGGTGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGT GTGTGGTGTGTGTGTGGTGCATGTGTGGTGTATGTGTGTGGTGTGTGTGG TGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79886450	C C	CGGGGACA others(685): Show CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACA TAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGAT GGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACA GGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0198 a0001c0005t0001g0198	1	273	0.0037	692	c.625 others(711): Show c.625-12590_625-12589insGGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGG ACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGG ACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGA CATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGG ACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGA CGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGGACAT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3			chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(685): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGAAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0021 a0001c0013t0021	a0001c0013t0021g0125 a0001c0013t0021g0125	1	5	0.2000	692	c.-46 others(703): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTTCTC CTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCT CCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCC TCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCC TCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCC CTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCT CTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCAC TTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCAC CTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(685): Show TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATC CATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18980.hp1 NA19085.hp1 NA18975.hp2 NA18980.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276	3	209	0.0144	692	c.126 others(709): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATGGATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATGGATATATATAT ATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(685): Show TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATC CATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	207	0.0048	692	c.126 others(709): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATGGATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATGGATATATATAT ATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(685): Show TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATCCA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0272 a0002c0002t0002g0272	1	207	0.0048	692	c.126 others(709): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATGGATATATAT ATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACGCTT others(685): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCTTAC ATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCAC ACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTAC ACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCAC ACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0271 a0001c0002t0004g0271	1	215	0.0047	692	c.129 others(709): Show c.1290-944_1290-943insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTTACACTCATGCTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(685): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCC CTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCC TCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0017 a0004c0018t0001g0017	1	4	0.2500	692	c.114 others(711): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTC CCCTCTCCTCCTCCCCTCCCCTCCTCCTCCCCTCCCCTCCCATCCCCTCC TCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(685): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	165	0.0061	692	c.394 others(707): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(685): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAAAATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATACATATTTCAATATAAGTATGTATATAAATA TACATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAAATA TATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATAAG TATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATA TATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0090 a0005c0005t0003g0090	1	156	0.0064	692	c.358 others(709): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAAAATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGT ATGTATATAAATATACATATTTCAATATAAGTATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATAT ATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATGT ATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATATATTT AAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAT AAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(685): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	156	0.0064	692	c.358 others(709): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(685): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01123.hp2 others(3): Show HG00140.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0001t0003g0024 others(3): Show a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0041 a0001c0001t0003g0042	6	161	0.0373	692	c.358 others(709): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(685): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01934.hp1 HG00735.hp1 HG00738.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0039 a0001c0001t0003g0231 a0001c0001t0003g0030 a0001c0001t0003g0039 a0001c0001t0003g0231	3	158	0.0190	692	c.358 others(709): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(685): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATA AATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0008 a0005c0013t0008	a0005c0013t0008g0121 a0005c0013t0008g0121	1	156	0.0064	692	c.358 others(709): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT ATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAAT ATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(685): Show AATATATATATTTATATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	156	0.0064	692	c.358 others(709): Show c.358+3191_358+3192insATTTATATATAAGTATATATAAATATAT ATATTTAAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(685): Show AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	156	0.0064	692	c.358 others(709): Show c.358+3191_358+3192insATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(685): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGAGGGTGGGGAGGGAGATGGAGGACAGGGAGG GTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAGGG GGGGGAAAGTGGGGAGGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGG AGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGG AGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGA GTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGT TGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTG GGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAG GGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGA GGGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAG GGAGGGTGGAGGGCAGGTAGGGTGGAGGGAGAGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0086 a0001c0001t0006g0086	1	106	0.0094	692	c.321 others(711): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCACCCTA CCTGCCCTCCACCCTCCCTCCCCACTCTCCCTCCCTCCACCATCCCTGCC CTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCACCCTC CTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCCACTCTCCTTC CCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTCCCTGCCCTCC ACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCCCCACTCCCTG CCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCACCC TCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTCCTCCCTCCTC CCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTCCCTCCCCTCC ACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCCCTCCCTCCCC TCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCACCCTCC CCTCCCCACTTTCCCCCCCCTCCACCCTCCCTGCCCTCCCCACTCTCCCT CCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCTCCCTCCCCACCCTCC TCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTCCACCCTCC TTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NXN_chr17_794310_984776	841407	C C	CCCCTGAC others(685): Show CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACG GAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC GCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGCAG GTCCCCCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCGAC CACAGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATC TCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGA GCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAG CATCTCACACGGGCGAGCAGGTCCCCCTGACCACGGAGCATCTCACACGG GCGAGCAGGTCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACA GCGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACA CCCACGGGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGG TCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0113 a0001c0001t0014g0113	1	234	0.0043	692	c.361 others(711): Show c.361-15330_361-15329insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGG GAGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTC GCGGGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGACCTG CTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTG AGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGA CCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCG CTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGG GGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGA TGCGCCGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(685): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATACATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	692	c.70 others(703): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATACATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(685): Show TATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATCTATAGA TAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATC TATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	359	0.0028	692	c.-26 others(703): Show c.-2641_-2640insCTATCTATCGATAGATACATCTATCTATCTATCG ATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGAT AGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAG ATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACAT CTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCT ATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGAT ACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCT ATCTATCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTAT CTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCT GTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGT CTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCT ATCGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGT CTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCT ATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGAT ACATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(685): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	692	c.-26 others(703): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(685): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAG ACATATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGAC AGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	692	c.-26 others(703): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PKP3_chr11_389209_409908	398399	G G	GCGTCACC others(685): Show GCGTCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACAC CTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCACCTCC GTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCG TCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCACATA TACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	201	0.0050	692	c.106 others(709): Show c.1069-583_1069-582insATACCCCCACACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCT GCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTCCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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