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
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(718): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00673.hp2 others(22): Show HG00597.hp1 HG00597.hp2 HG00673.hp2 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02698.hp2 HG03669.hp2 HG04204.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18960.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA19004.hp1 NA19068.hp2 NA19079.hp2 NA20752.hp2 NA20805.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0013 a0002c0002 a0018c0013	a0002c0002t0001 a0002c0002t0011 a0002c0002t0017 others(1): Show a0002c0002t0001 a0002c0002t0011 a0002c0002t0017 a0018c0013t0001	a0002c0002t0001g0002 a0002c0002t0001g0055 a0002c0002t0001g0060 others(7): Show a0002c0002t0001g0002 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0143 a0002c0002t0011g0057 a0002c0002t0017g0151 a0018c0013t0001g0056	25	250	0.1000	725	c.15 others(736): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(718): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGG CAGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTG GTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGAT GGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGG TGATGGTGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0135 a0001c0004t0006g0135	1	136	0.0074	725	c.-32 others(746): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTA CCATCATCACCACCATCACCACCACCACAACTACCATCATCACCACCATC ACCACCACCACAACTACCATCATCACCACCATCACCACCACCACCACCAC TGCCGTCACCACCATTATCACTATTATCACCACCGTTACCACCACCACTG CCATCACCACCATCATCGCCATTATCACCATTACCATTGCCATCACCATC ACTACTATCATAATCACCCTCACCGCCATCACTGCCATCATCACCATTGC CACCACCATCACCACCATCATTACTATCATCACCACCACCACCATCACTG ACATGATCACCATTACCACCACCACCACTGCCGTCACCACCATTATCACT ATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTAT CATCATCACCATCACCACCATCATCGCCATTATCACCATTACCATCGCCA TCACCACCATCACTACTCTCATAATCACCATCACTGCCATCATCACCATT GCCATCACTATCACCACCATCATGACTATCATCACCATCACCACCACCAC CACCATCACTGACATATAATCACCATTACCACCACCACCATTATCACTGT CATCATCATCTCCATCAATACCACCACCATCATCACCACCATCACCACCA C	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(718): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGA TGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTG GTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGAT GGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGG TGATGGTGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0062 a0001c0001t0007g0062	1	136	0.0074	725	c.-32 others(746): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTA CCATCATCACCACCATCACCACCACCACAACTACCATCATCACCACCATC ACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTAC CATCATCACCACCATTATCACTATTATCACCACCGTTACCACCACCACTG CCATCACCACCATCATCGCCATTATCACCATTACCATTGCCATCACCATC ACTACTATCATAATCACCCTCACCGCCATCACTGCCATCATCACCATTGC CACCACCATCACCACCATCATTACTATCATCACCACCACCACCATCACTG ACATGATCACCATTACCACCACCACCACTGCCGTCACCACCATTATCACT ATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTAT CATCATCACCATCACCACCATCATCGCCATTATCACCATTACCATCGCCA TCACCACCATCACTACTCTCATAATCACCATCACTGCCATCATCACCATT GCCATCACTATCACCACCATCATGACTATCATCACCATCACCACCACCAC CACCATCACTGACATATAATCACCATTACCACCACCACCATTATCACTGT CATCATCATCTCCATCAATACCACCACCATCATCACCACCATCACCACCA C	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPA3_chr7_7631518_7723607	7679103	A A	ATTTATTT others(718): Show ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAAT ACATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA TATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	295	0.0034	725	c.-75 others(744): Show c.-758+6726_-758+6727insCATGTATCTATAAACTAAATATATAA ATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAA CTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(718): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATA AACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTT TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACAT ATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACAT ATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTT ATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19004.hp1 NA18999.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0020 a0001c0001t0001g0023	2	279	0.0072	725	c.-75 others(744): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATAT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATATAAATATATATTTATAAACTAAATATATAAATATATATTTATA AACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTT TATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATA TGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAA TATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATA TAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAA TATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPS21_chr20_62382103_62393520	62382245	G G	GTGATGGT others(718): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGG TGGTGGTGATGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGATG ATGGTGATGGTGGTGATGGTGATGCTGATGGTGGTGGTGATGATGGTGAT GGTGAGGATGGTGGTGATGGTGGTCATGATGGTGATGATGGTGGTGATGA TGATGGTGATGGTGGTGGTGATGGTGATGGTAGTGATGATGGAGGTGACG GTGATGGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGATGCTGGTGGTGATGATGGTGATGGTGATGATGA TGGTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTGATG GTGATGATGGTGATGGTAGTGATGATGGTGGTGGTGGTGATGGTGGTCAT GATGGTGATGGTGGTGATGATGGTGGTGACGGTGGTGGTGGTGATGGTGA CGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGTGGTG ATGGTGATGATGATGGTGATGGCGGTGGTGGTGATGGTGATGGTGGTGAT GACGGTGGTGATGGTGATGGTGGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	408	0.0049	725	c.-49 others(736): Show c.-4910_-4909insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGA TGGTGGTGATGATGGTGGTGGTGATGGTGATGGTGACGATGGTGGTGATG GTGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGCTGATGGTGGT GGTGATGATGGTGATGGTGAGGATGGTGGTGATGGTGGTCATGATGGTGA TGATGGTGGTGATGATGATGGTGATGGTGGTGGTGATGGTGATGGTAGTG ATGATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGATGGTGGT GGTGGTGGTGATGGTGATGGTGGTGATGGTGATGCTGGTGGTGATGATGG TGATGGTGATGATGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTG ATGATGGTGGTGATGGTGATGATGGTGATGGTAGTGATGATGGTGGTGGT GGTGATGGTGGTCATGATGGTGATGGTGGTGATGATGGTGGTGACGGTGG TGGTGGTGATGGTGACGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTG ATGATGGTGGTGGTGATGGTGATGATGATGGTGATGGCGGTGGTGGTGAT GGTGATGGTGGTGATGACGGTGGTGATGGTGATGGTGGCAA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4857		chr20	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(718): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATAATATATACATATATATGTATATA TAATATATACATATATGTATATATTATATATACATATATGTATATATTAT ATATACATATATATGTATATATACATATATACATGTATATATTATACATG TATATATGTATATATACATATATACATGTATATATTATACATGTATATAT TAATATATAATATATAGTATATATATACATGTATATATTATATATAAAGT ATATATTATATATACGTGTATACAATATATATACGTGTATATATATTATA TACACGTATATATAATATATTGTATACAGGTATATATACATGTATATAAT ATATATGTATATATAATATATTGTATACATGTATATATATACATGATATA TACACATATATATCGTGTATATATACACATATATGTATATATATACATGA TATATACATACATATATATCATGTGTATATATATACATAATATACACGTA TATATACATACATATATACATGTATATATACACATATATACATACATATA TATACATGTATATATACACACATATATATGTGTATGTATATGTGTGTGTG TGTGTGTGTGTGTGTATATATATATATATATATATATATATATATAATTT TACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	121	0.0083	725	c.59- others(742): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATACACACACACACACACA CACACACATATACATACACATATATATGTGTGTATATATACATGTATATA TATGTATGTATATATGTGTATATATACATGTATATATGTATGTATATATA CGTGTATATTATGTATATATATACACATGATATATATGTATGTATATATC ATGTATATATATACATATATGTGTATATATACACGATATATATGTGTATA TATCATGTATATATATACATGTATACAATATATTATATATACATATATAT TATATACATGTATATATACCTGTATACAATATATTATATATACGTGTATA TAATATATATACACGTATATATATTGTATACACGTATATATAATATATAC TTTATATATAATATATACATGTATATATATACTATATATTATATATTAAT ATATACATGTATAATATATACATGTATATATGTATATATACATATATACA TGTATAATATATACATGTATATATGTATATATACATATATATGTATATAT AATATATACATATATGTATATATAATATATACATATATGTATATATTATA TATACATATATATGTATATATTATATATACATATATGTGCATATAATATA CATGTCTATATGTATATATATTATACATACATGTCTATATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(718): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC TCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCCTCCCCACCCCCTCCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCC TCCCCACCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	40	0.0250	725	c.77- others(742): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCTCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCC CCTCCCCCCTCCCCACCCCCTCCCCCTCCCCCCTCCCCACCCCCTCCCCT CCCCCCTCCCCACCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(718): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC TCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCCTCCCCACCCCCTCCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCC TCCCCACCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	45	0.0222	725	c.22+ others(742): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCTCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCC CCTCCCCCCTCCCCACCCCCTCCCCCTCCCCCCTCCCCACCCCCTCCCCT CCCCCCTCCCCACCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHOX_chrX_625791_656584	626115	G G	GTCTCTCT others(718): Show GTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATC TCTGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCTCTCTTTTTCTCTTTC TCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCT GTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCT CTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCT CTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGTATCTCTG TCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCTGTATCT CTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTCTCTTTT TCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCT TTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTATC TCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCT CTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCTGTATCTCTGTCTATC TCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTCTCTTTTTCTCTGTCT CTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCTG TCTCTGTATCTCTGTCTATCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0033 a0001c0001t0025 a0001c0001t0033	a0001c0001t0025g0158 a0001c0001t0033g0159 a0001c0001t0025g0158 a0001c0001t0033g0159	2	215	0.0093	725	c.-47 others(736): Show c.-4783_-4782insTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCT GTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCT CTCTTTTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCT CTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACC TCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGT CTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCT CTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTC TCTGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCT CTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCT CTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTC TCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGTA TCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCT GTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTC TCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTC CTCTCTTTTTCTCTGTCTCTGTATCTCTGTCTATCTCTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4675		chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(718): Show TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0164 a0003c0002t0001g0164	1	168	0.0060	725	c.323 others(744): Show c.323+52984_323+52985insTAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(718): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTT GAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATC TCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTC AGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTA ATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGT CTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTT TCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTG GGTGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG03654.hp1 HG04184.hp1 others(3): Show HG02602.hp2 HG03654.hp1 HG04184.hp1 NA18940.hp2 NA18975.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0233 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0002g0245	6	184	0.0326	725	c.55 others(736): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGG TATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGT TTTGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAG TGCAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAG TGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTAC CACTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCAT TTTGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTC GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGACTA GTTGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAG CTCATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(718): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTT GAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATC TCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTC AGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTA ATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGT CTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTT TCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTG GGTGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	179	0.0056	725	c.55 others(736): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGG TATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGT TTTGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAG TGCAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAG TGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTAC CACTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCAT TTTGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTC GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTA GTTGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAG CTCATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(718): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTTCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAACAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTT GAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATC TCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTC AGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTA ATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGT CTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTT TCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTG GGTGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	179	0.0056	725	c.55 others(736): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTTCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAACAAAAACAAAAACATAGG TATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGT TTTGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAG TGCAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAG TGATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTAC CACTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCAT TTTGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTC GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTA GTTGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAG CTCATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(718): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGGAGAG GGGGAGGAGGGGAGGGGAGGGCAGAGGAGGGGAGGAGAGGGGGAGAGGAG GGGTGAGGAGGAGAGGAGAGGGGAGGGGAAGGGGGACGGGAGAGGGGAGG GAGGAGGGGAGGGGAGGGGAGGGGGAGGAGGGAGGGGAGGGGAGGGAGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGAGGGAGGGGAGAGGGGA GGAGGAGGGAGGGGAGGGGAGGGGGAGGAGGAGGGGAGAGGGGAGGGAGG AGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAAGGGGAAGGGGGAGGGGGG AGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGGAGGGGAGGGGAGGG GGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGG GGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGA AGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGAGAGGAGG GGGAGGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	725	c.12 others(736): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCCTCCCCCTCCTCT CCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCTTCCCCCTT CCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCT CCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCC TCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCCTCCCC TCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTC CCCCTTCCCCTTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCTCCTCCCTC CCCTCTCCCCTCCTCCTCCCCCTCCCCTCCCCTCCCTCCTCCTCCCCTCT CCCCTCCCTCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCT CCCCTCCCCTCCCTCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCTCCCCT CTCCCGTCCCCCTTCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTC CCCCTCTCCTCCCCTCCTCTGCCCTCCCCTCCCCTCCTCCCCCTCTCCCC TCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCC CCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTT TCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SRXN1_chr20_641615_658200	642261	G G	GGGGGGGG others(718): Show GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGT GGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTCGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	362	0.0028	725	c.64 others(736): Show c.6452_*6453insGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACC CCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCGAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCA TCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCC CACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCG CTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4353		chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(718): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATC CTATCCACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCC CATCCTATCCACCCCCCCCACCCACCATCCCCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCC CCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATC CACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATC CACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCA CCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGT TCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCA TCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTA TCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCACCCAC CCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0228 a0001c0004t0003g0228	1	28	0.0357	725	c.113 others(744): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATC CACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCC TATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCAT CCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCA CCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCC ACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCA CCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCA CCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCC ATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCT GTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCC ATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCC ACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(718): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTT GAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATC TCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTC AGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTA ATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGT CTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTT TCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTG GGTGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG03654.hp1 HG04184.hp2 others(1): Show HG02602.hp2 HG03654.hp1 HG04184.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 a0001c0001t0002 a0001c0001t0005 a0001c0004t0002	a0001c0001t0002g0139 a0001c0001t0005g0012 a0001c0001t0005g0021 others(1): Show a0001c0001t0002g0139 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0004t0002g0011	4	215	0.0186	725	c.34 others(736): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGTCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACT GCAACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGA GTAGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATT TTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTT GACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(718): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTT GAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATC TCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTC AGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTA ATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGT CTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTT TCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTG GGTGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	212	0.0047	725	c.34 others(736): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACT GCAACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGA GTAGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATT TTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTT GACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(718): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTTCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAACAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTT GAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATC TCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTC AGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTA ATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGT CTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTT TCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTG GGTGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0013 a0001c0012t0013	a0001c0012t0013g0185 a0001c0012t0013g0185	1	212	0.0047	725	c.34 others(736): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTGTTTTTTTTTTTTTTTTGAGACGGAG TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACT GCAACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGA GTAGCTGGGATTACAGGCGCCCAGAACTATTCTCGGCTAATTTTTGTATT TTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTT GACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMPRSS2_chr21_41459305_41513158	41474545	G G	GAGGGGGT others(718): Show GAGGGGGTGAGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGGG TGGGTGAGGTGGTGAGTGAGGGGGTGAGGGGTGAGTAAGGAGGTGAGGGG GTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGGGATGAGGGAGTGATTC AGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGCATGATTGAGGGGGTGAA GGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGGGGGGAGTGAGGAGGAGA GTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAATGGGTGAGAGACGGGGT GAGTGAGGGGTGAAGGGATGAATGAGGGGGTAAGTAAGGGGTTGAGGGGG TGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTGAGGGCGTGAGGGGGTGA GGGAGTGAGGGATTAGTGAGGGGGTGAGGGGTTGAGTGAGGAGGTGAGCA GGTGGGTGAGTGGATGAAGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGG GGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGTGGTGAGTGAGGGGGTGAA GGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGGGGGTGACGGGGTGGGGTG AGGGAGGGATGAGGGGGAGAGTGAGGAGGTGAGGAGGTGAGTGAGGGTTG AGGGAGTGAGGGGGTGAGTGAGGGGGCGAAGGGGTGAGTGAGGGGGTGAG GGGGTGAAGGCGTGAGTGAGGGGGTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	280	0.0036	725	c.728 others(742): Show c.728-1050_728-1049insTACCCCCTCACTCACGCCTTCACCCCCT CACCCCCTCACTCACCCCTTCGCCCCCTCACTCACCCCCTCACTCCCTCA ACCCTCACTCACCTCCTCACCTCCTCACTCTCCCCCTCATCCCTCCCTCA CCCCACCCCGTCACCCCCTCACTCACCTCCTCACCCCCTCACTCACCCTT CACCCCCTCACTCACCACCTCACCTCCTCACTCACCCCCTACTCAACCCC TCATTCACCCCTCACCCCCTCACTCACCCCTTCATCCACTCACCCACCTG CTCACCTCCTCACTCAACCCCTCACCCCCTCACTAATCCCTCACTCCCTC ACCCCCTCACGCCCTCACTCACCCTTCACCTCCTCACTCACCCCCTCACC CCCTCAACCCCTTACTTACCCCCTCATTCATCCCTTCACCCCTCACTCAC CCCGTCTCTCACCCATTCACCCCCTCACTCATGCCTTCACCCCCTCACTC TCCTCCTCACTCCCCCCTTCACCCCTCAGTCACCCCCTCACTCACCCCTT CACCCCCTCAATCATGCCTTCACTCCCTCACTCACCCCTTCACCCTCTGA ATCACTCCCTCATCCCCTCACCCACCCCTCACCCACCCCCTCACTCACCC CCTCACCTCCTTACTCACCCCTCACCCCCTCACTCACCACCTCACCCACC CCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACTCACCCCCT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(718): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACAACACCACACACCACACACACACCACCACACACCACCACACA CCACACACACCACCACACACACACCACCACACACACACCACACACCACAC ACACATACACCACCACACACCACCACACACACCACACACACAACACACAC CACCACACACCACACACACCACCACACACACCACCACACACACACCACAC ACCATACACACACTACCACACACCACCACACACCACCACACACACACCAC ACACACAGCACCACACACACACCACCACACACAACACACACCACACACAC CACCACACACATACCACCACACACACCACCACACACATACACACCACACC ACCACCACATACATACACACCACACACCACCACACACATACACACCACAC ACCACCACACACATACACACCACACACACTACCACCGCATACATACACAC CACACACGCCACCACATACATACCACACACACATACACACCACCCACACA CCACCACACACACCACCACCACACACATACACACCACACACACCACCACA CACACACCACCACATACATACACACCACACACATACCACCACACACACAC CATCACGCACACCACCACATACACACACCACAGACATACCACCACACACA TACCATCACACACCACTACGCACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(104): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18965.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19043.hp1 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0017 a0018 a0023 a0024 a0025 a0027 a0031 a0032 a0033 a0035 a0036 a0040 a0042	a0001c0002 a0001c0110 a0002c0001 others(49): Show a0001c0002 a0001c0110 a0002c0001 a0002c0003 a0002c0025 a0002c0079 a0002c0083 a0002c0109 a0002c0113 a0003c0009 a0003c0020 a0003c0035 a0003c0047 a0003c0061 a0003c0080 a0003c0107 a0004c0004 a0004c0011 a0004c0014 a0004c0046 a0004c0057 a0004c0086 a0004c0091 a0004c0095 a0004c0111 a0005c0007 a0005c0016 a0005c0023 a0005c0056 a0005c0076 a0005c0089 a0006c0054 a0006c0067 a0007c0064 a0007c0084 a0007c0099 a0007c0108 a0010c0026 a0017c0118 a0017c0120 a0018c0034 a0023c0075 a0024c0125 a0025c0051 a0027c0041 a0031c0043 a0032c0119 a0033c0117 a0035c0104 a0036c0123 a0040c0092 a0042c0106	a0001c0002t0008 a0001c0110t0008 a0002c0001t0001 others(83): Show a0001c0002t0008 a0001c0110t0008 a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 a0002c0001t0013 a0002c0001t0032 a0002c0001t0042 a0002c0001t0057 a0002c0001t0059 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0003t0013 a0002c0003t0016 a0002c0003t0028 a0002c0003t0032 a0002c0025t0001 a0002c0025t0004 a0002c0079t0004 a0002c0083t0004 a0002c0109t0016 a0002c0113t0056 a0003c0009t0008 a0003c0009t0033 a0003c0009t0092 a0003c0020t0008 a0003c0020t0013 a0003c0020t0033 a0003c0035t0028 a0003c0035t0103 a0003c0047t0029 a0003c0061t0061 a0003c0080t0090 a0003c0107t0029 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0007 a0004c0004t0013 a0004c0004t0105 a0004c0011t0001 a0004c0011t0004 a0004c0011t0074 a0004c0014t0001 a0004c0014t0002 a0004c0014t0004 a0004c0046t0004 a0004c0057t0001 a0004c0086t0001 a0004c0091t0001 a0004c0095t0088 a0004c0111t0041 a0005c0007t0011 a0005c0007t0023 a0005c0007t0024 a0005c0016t0011 a0005c0016t0024 a0005c0016t0100 a0005c0023t0001 a0005c0023t0004 a0005c0023t0060 a0005c0056t0007 a0005c0076t0001 a0005c0089t0001 a0006c0054t0001 a0006c0067t0076 a0007c0064t0001 a0007c0084t0008 a0007c0099t0102 a0007c0108t0075 a0010c0026t0027 a0017c0118t0008 a0017c0120t0096 a0018c0034t0001 a0023c0075t0016 a0024c0125t0016 a0025c0051t0002 a0027c0041t0089 a0031c0043t0101 a0032c0119t0004 a0033c0117t0091 a0035c0104t0013 a0036c0123t0001 a0040c0092t0007 a0042c0106t0011	a0001c0002t0008g0167 a0001c0110t0008g0004 a0002c0001t0001g0017 others(104): Show a0001c0002t0008g0167 a0001c0110t0008g0004 a0002c0001t0001g0017 a0002c0001t0002g0029 a0002c0001t0002g0031 a0002c0001t0002g0099 a0002c0001t0002g0175 a0002c0001t0002g0188 a0002c0001t0002g0189 a0002c0001t0002g0204 a0002c0001t0002g0223 a0002c0001t0007g0181 a0002c0001t0013g0228 a0002c0001t0032g0071 a0002c0001t0042g0185 a0002c0001t0057g0066 a0002c0001t0059g0141 a0002c0003t0001g0148 a0002c0003t0002g0038 a0002c0003t0002g0041 a0002c0003t0002g0131 a0002c0003t0002g0177 a0002c0003t0002g0205 a0002c0003t0007g0056 a0002c0003t0007g0058 a0002c0003t0013g0163 a0002c0003t0016g0022 a0002c0003t0028g0155 a0002c0003t0032g0108 a0002c0025t0001g0100 a0002c0025t0001g0132 a0002c0025t0004g0191 a0002c0079t0004g0152 a0002c0083t0004g0122 a0002c0109t0016g0105 a0002c0113t0056g0220 a0003c0009t0008g0062 a0003c0009t0008g0221 a0003c0009t0033g0063 a0003c0009t0092g0065 a0003c0020t0008g0045 a0003c0020t0013g0164 a0003c0020t0033g0075 a0003c0035t0028g0046 a0003c0035t0103g0235 a0003c0047t0029g0064 a0003c0061t0061g0222 a0003c0080t0090g0019 a0003c0107t0029g0016 a0004c0004t0001g0225 a0004c0004t0002g0102 a0004c0004t0004g0037 a0004c0004t0004g0051 a0004c0004t0007g0101 a0004c0004t0013g0117 a0004c0004t0105g0239 a0004c0011t0001g0039 a0004c0011t0004g0142 a0004c0011t0074g0032 a0004c0014t0001g0027 a0004c0014t0002g0146 a0004c0014t0004g0026 a0004c0014t0004g0226 a0004c0046t0004g0160 a0004c0057t0001g0140 a0004c0086t0001g0089 a0004c0091t0001g0198 a0004c0095t0088g0078 a0004c0111t0041g0165 a0005c0007t0011g0054 a0005c0007t0011g0055 a0005c0007t0023g0086 a0005c0007t0023g0180 a0005c0007t0024g0157 a0005c0016t0011g0043 a0005c0016t0011g0082 a0005c0016t0024g0153 a0005c0016t0100g0240 a0005c0023t0001g0190 a0005c0023t0004g0112 a0005c0023t0060g0138 a0005c0056t0007g0212 a0005c0076t0001g0179 a0005c0089t0001g0158 a0006c0054t0001g0070 a0006c0067t0076g0048 a0007c0064t0001g0061 a0007c0084t0008g0166 a0007c0099t0102g0243 a0007c0108t0075g0139 a0010c0026t0027g0218 a0010c0026t0027g0219 a0017c0118t0008g0013 a0017c0120t0096g0231 a0018c0034t0001g0087 a0018c0034t0001g0088 a0023c0075t0016g0130 a0024c0125t0016g0011 a0025c0051t0002g0098 a0027c0041t0089g0044 a0031c0043t0101g0233 a0032c0119t0004g0127 a0033c0117t0091g0008 a0035c0104t0013g0159 a0036c0123t0001g0106 a0040c0092t0007g0206 a0042c0106t0011g0171	107	155	0.6903	725	c.537 others(742): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGTGTATGTGTGTGGTGGTGGTGTGTGTGGTGGTG TGTGGGTGGTGTGTATGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGT GTGTATGTATGCGGTGGTAGTGTGTGTGGTGTGTATGTGTGTGGTGGTGT GTGGTGTGTATGTGTGTGGTGGTGTGTGGTGTGTATGTATGTGGTGGTGG TGTGGTGTGTATGTGTGTGGTGGTGTGTGTGGTGGTATGTGTGTGGTGGT GTGTGTGGTGTGTGTTGTGTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGT GGTGTGTGTGTGGTGGTGTGTGGTGGTGTGTGGTAGTGTGTGTATGGTGT GTGGTGTGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGT GTGTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGGTGGTGTATGTGTGT GTGGTGTGTGGTGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTG TGTGGTGGTGTGTGGTGGTGTGTGTGTGGTGTGTGGTGTTGTGTGTGTGG TGGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(718): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACATACACAACACCACACACCACACACACACCACCACACACCACCACACA CCACACACACCACCACACACACACCACCACACACACACCACACACCACAC ACACATACACCACCACACACCACCACACACACCACACACACAACACACAC CACCACACACCACACACACCACCACACACACCACCACACACACACCACAC ACCATACACACACTACCACACACCACCACACACCACCACACACACACCAC ACACACAGCACCACACACACACCACCACACACAACACACACCACACACAC CACCACACACATACCACCACACACACCACCACACACATACACACCACACC ACCACCACATACATACACACCACACACCACCACACACATACACACCACAC ACCACCACACACATACACACCACACACACTACCACCGCATACATACACAC CACACACGCCACCACATACATACCACACACACATACACACCACCCACACA CCACCACACACACCACCACCACACACATACACACCACACACACCACCACA CACACACCACCACATACATACACACCACACACATACCACCACACACACAC CATCACGCACACCACCACATACACACACCACAGACATACCACCACACACA TACCATCACACACCACTACGCACACA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0097 a0002c0001t0007g0097	1	49	0.0204	725	c.537 others(742): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGTGTATGTGTGTGGTGGTGGTGTGTGTGGTGGTG TGTGGGTGGTGTGTATGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGT GTGTATGTATGCGGTGGTAGTGTGTGTGGTGTGTATGTGTGTGGTGGTGT GTGGTGTGTATGTGTGTGGTGGTGTGTGGTGTGTATGTATGTGGTGGTGG TGTGGTGTGTATGTGTGTGGTGGTGTGTGTGGTGGTATGTGTGTGGTGGT GTGTGTGGTGTGTGTTGTGTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGT GGTGTGTGTGTGGTGGTGTGTGGTGGTGTGTGGTAGTGTGTGTATGGTGT GTGGTGTGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGT GTGTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGGTGGTGTATGTGTGT GTGGTGTGTGGTGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTG TGTGGTGGTGTGTGGTGGTGTGTGTGTGGTGTGTGGTGTTGTGTATGTGG TGGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(718): Show ACACGCCACACACACAGGCACGCCACACACACAGGCACGCCACACACGCA CGCCACACACGCACGCCACACGCATGCCACACACAGCCACGCCACACACA CACGCCACACACACACAGGCACGCCACACACGCACGCCACACACACGCAT GCCACACACACGCCACACACACAGGCACGCCACACACACAGGCACGCCAC ACACACACGCCACACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACATGCACGCCACATACGCCCGCCACACACGCACGCCACACACG CACGCCACACAGGCACCCCACACAAGCACGCCACACACACGCACGCCACA CACACACGCACGCCACAAACGCACGCCACACACGCACGCCACACGCACGC CAGCCACACACGCCAGCCACACACGCACGCCAGCCACACGCACGCACACA CGCACGCCACACGCACGCCACACACGAACGCCACACAAACGCCACACACG AATGCCACACGCACGCCACACACGCACGCCACACACGCACGCCACACACG CACGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCATGCCA AACACGCACGCCACACATGCACGCCACACACACAGGCACACCACACACAG GCACGCCACACACACAGGCACGCCACACACATGCACGCCACACACACAGG CACGCCACACACATGCACGCCACACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02615.hp1 others(4): Show HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG03130.hp2 HG03471.hp1 HG03579.hp2	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0004 a0004c0007 a0015c0035 a0002c0004 a0004c0007 a0015c0035	a0002c0004t0001 a0004c0007t0001 a0015c0035t0001 a0002c0004t0001 a0004c0007t0001 a0015c0035t0001	a0002c0004t0001g0038 a0002c0004t0001g0092 a0002c0004t0001g0093 others(4): Show a0002c0004t0001g0038 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0004c0007t0001g0380 a0015c0035t0001g0091	7	236	0.0297	725	c.961 others(740): Show c.961-449_961-448insCGTGTGGCGTGCATGTGTGTGGCGTGCCTG TGTGTGTGGCGTGCATGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGT GTGTGGTGTGCCTGTGTGTGTGGCGTGCATGTGTGGCGTGCGTGTTTGGC ATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTG TGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGGCATTCGTG TGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTGTGGCGTGCGTGTG TGCGTGCGTGTGGCTGGCGTGCGTGTGTGGCTGGCGTGTGTGGCTGGCGT GCGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGTG GCGTGCGTGTGTGTGGCGTGCTTGTGTGGGGTGCCTGTGTGGCGTGCGTG TGTGGCGTGCGTGTGTGGCGGGCGTATGTGGCGTGCATGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGTGGCGTGTGTGTGTGG CGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGC GTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTG TGTGGCGTGGCTGTGTGTGGCATGCGTGTGGCGTGCGTGTGTGGCGTGCG TGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(718): Show AAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCGAGG AAGGGAGGGAGGAAGGAAGGAGGGAGGGAGCGAGGGAGGAAGGAAGGAAG GAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGG AGGAAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGA ACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGGA AGGGAGAGAGGAAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGG AAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCGAGGAAGG GAGGGAGGAAGGAAGGAGGGAGGGAGCGAGGGAGGAAGGAAGGAAGGAGG AAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGA AGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGAACGA AAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGGAAGGG AGAGAGGAAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGG AAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGA AGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAA AAGAAGAGCGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0007 a0001c0001t0025g0007	1	87	0.0115	725	c.30+ others(742): Show c.30+17507_30+17508insAGAAGGAAGGAAAGAGCAAGGAAGGAAG GAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAGGGAGGGAGCGAGGGAG GAAGGAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGA AGGAAGGGAAGGAGGAAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGA GGGAGAAAAGGAACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGG AGGAAGGAAGGAAGGGAGAGAGGAAGGAAGGAAGGAAAGAGCGAGGAAGG GAGGGAGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAA GAGCGAGGAAGGGAGGGAGGAAGGAAGGAGGGAGGGAGCGAGGGAGGAAG GAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGA AGGGAAGGAGGAAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGA GAAAAGGAACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGA AGGAAGGAAGGGAGAGAGGAAGGAAGGAAGGAAAGAGCGAGGAAGGGAGG GAGGAAGGAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGA GGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGA AGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGAA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
UMAD1_chr7_7635752_7884223	7679049	A A	ATTTATTT others(718): Show ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAAT ACATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA TATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0057 a0001c0001t0012g0057	1	246	0.0041	725	c.82+ others(740): Show c.82+5601_82+5602insTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATA TTTAGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679103	A A	ATTTATTT others(718): Show ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAAT ACATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA TATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	241	0.0041	725	c.82+ others(740): Show c.82+5655_82+5656insTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATA TTTAGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(718): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATA AACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTT TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACAT ATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACAT ATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTT ATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19004.hp1 NA18999.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0173 a0001c0001t0004g0169 a0001c0001t0004g0173	2	226	0.0088	725	c.82+ others(740): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATT TATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAA TACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAA TACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAG TTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(718): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATATAATATAATATATAATATATAATATATATTATATATTATATAT AATATATATTATATATTATATATAATAATATAATATATAATATACATTAT ATAATAATATAATATATAATATACATTATATAATAATATAATGTATATTA TATAATAATAATGTAATATATAACATATATTATATAATAATAATATAATA TATATTATATAATTAATATAATATATAATATATTTTATATAATAATAATA TAATATATATTATATAATTAATATAATATATAATATATATTATATAATAA TAATATAATATATATAATAATTATATAATATAGTATATAATATATATTAT ATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATAT TATACAATAATAATATAATATATTATACAATAATAATATAATATATATAT AATTATATAATATAATATATATAATAATAATATAATATAATATATAATAT ATATTATATAGTAATAATATAATATAATATATAATATATATTATATAGTA ATAATATAATATAATATATAATATATATTATATGATAATATAATATAATA TATATTATATATTATATTATAATATAATATAATATATATTATATATTATA TAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	12	0.0833	725	c.55+ others(740): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTATATA ATATATAATATATATTATATTATATTATAATATAATATATAATATATATT ATATTATATTATCATATAATATATATTATATATTATATTATATTATTACT ATATAATATATATTATATATTATATTATATTATTACTATATAATATATAT TATATATTATATTATATTATTATTATATATATTATATTATATAATTATAT ATATATTATATTATTATTGTATAATATATTATATTATTATTGTATAATAT ATATTCTAATATTATATAATTATTATATATATTATATTATTATTATATAA TATATATTATATACTATATTATATAATTATTATATATATTATATTATTAT TATATAATATATATTATATATTATATTAATTATATAATATATATTATATT ATTATTATATAAAATATATTATATATTATATTAATTATATAATATATATT ATATTATTATTATATAATATATGTTATATATTACATTATTATTATATAAT ATACATTATATTATTATATAATGTATATTATATATTATATTATTATATAA TGTATATTATATATTATATTATTATATATAATATATAATATATATTATAT ATAATATATAATATATATTATATATTATATATTATATTATATAATTATTA TATATTGCATTATATTATATTATATATATTATATATATTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(718): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATA ACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATAT TGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATA ACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTAT ATAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 NA18994.hp2 HG03453.hp1 NA18994.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0009 a0004c0004 a0008c0009	a0004c0004t0005 a0008c0009t0009 a0004c0004t0005 a0008c0009t0009	a0004c0004t0005g0027 a0008c0009t0009g0091 a0004c0004t0005g0027 a0008c0009t0009g0091	2	303	0.0066	725	c.-42 others(736): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(719): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATATTATATACATATAATATATATTCTCATATATATTATATATACTCATA TATATAATATATATTCTCATATATATATATTATATATTCTCATATATATA ATATATATATTCTCATATATAATATATATTCTCATATATATAATATATAC TCATATATTATATATATTCTCATATATTATATATATACTCATATATAATG TATATATTCTAATATATAATATATATTTTCTCATTTATATAATATATATT CTCATATATAATATATATTCTCATATATGACATATTATATATATTCTCAT ATATATTATATATTCTCATATATAATATATATTCTCATATAATATATTAT ATATTCTCATATAATATATTATATATTCTCATATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATATATGCTCATATATAATATATTATATATGCTCAT ATATAATATATTATATATGCTCATATATATTATATATGCTCATATATTAT ATATGCTCATATATATTATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0000 a0001c0001t0079g0000	1	10	0.1000	726	c.10 others(739): Show c.10504_*10505insGAGCATATATAATATATATGAGCATATATAAT ATATGAGCATATATAATATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGAATATATAATATATTATATGAGAATATATAAT ATATTATATGAGAATATATATTATATATGAGAATATATAATATATATGAG AATATATATAATATGTCATATATGAGAATATATATTATATATGAGAATAT ATATTATATAAATGAGAAAATATATATTATATATTAGAATATATACATTA TATATGAGTATATATATAATATATGAGAATATATATAATATATGAGTATA TATTATATATATGAGAATATATATTATATATGAGAATATATATATTATAT ATATGAGAATATATAATATATATATATGAGAATATATATTATATATATGA GTATATATAATATATATGAGAATATATATTATATGTATATAATATATATA ATATATAATATATAATATATAATATATACATATATACATATAATATATAA ACATATAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AP2A2_chr11_920870_1017240	980430	C C	CTGCCCGG others(719): Show CTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGCGACAGGGTGCCCGGTGCCGTGTCCTGG AGCGGCGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGGTGCC CGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGA GCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCC GGTGCCGTGTCCTGGAGCGGCGACAGGGTGCCCGGTGCCGTGTCCTGGAG CGGCGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGGTGCCCG GTGCCGTGTCCTGGAGCGGCGACAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG03209.hp1 HG02622.hp1 HG02717.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0004 a0002c0007t0004 a0001c0002t0004 a0002c0007t0004	a0001c0002t0004g0228 a0001c0002t0004g0252 a0002c0007t0004g0224 a0001c0002t0004g0228 a0001c0002t0004g0252 a0002c0007t0004g0224	3	250	0.0120	726	c.604 others(741): Show c.604-743_604-742insCGACAGGCTGCCCGGTGCCGTGTCCTGGAG CGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCG GTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGC GGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGG TGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCG GCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGT GCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGG CGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGGTGCCCGGTG CCGTGTCCTGGAGCGGCGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGC GACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGGTGCCCGGTGC CGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCG ACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGCTGCCCGGTGCC GTGTCCTGGAGCGGCGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGCGA CAGGGTGCCCGGTGCCGTGTCCTGGAGCGGCGACAGGGTGCCCGGTGCCG TGTCCTGGAGCGGCGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP19_chr10_97217179_97297637	97251784	A A	AAGGGAAG others(719): Show AAGGGAAGGGAAGGGGAAGGGAAGGAAGGGAAGGGGAAGGAAAGGGAAGG GAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGA AAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGA AAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGAAGGGAAGGGAAAAG GAAGGGGAAGGGAAGGGGAAGGAAAGGGAAGAAAGGACAGGGGAAGGGAA AGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGA AGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGA AAGGAGAGGGGAAGGGAAAGGAGGGAAGGGAAGGGGAAGGGGAAGGAAAA GGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAG AAAGGAAAGGAAAGGAAGAGAGGGAGGGAGGGAGGAGGAAGGAAGGACGG ATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGG GAGGGAAGAGGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0063 a0001c0003t0002g0063	1	220	0.0045	726	c.927 others(743): Show c.927+4533_927+4534insCTCTCCCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCCTCTTCCCTCC CCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATC CGTCCTTCCTTCCTCCTCCCTCCCTCCCTCTCTTCCTTTCCTTTCCTTTC TTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTCCT TTTCCTTCCCCTTCCCCTTCCCTTCCCTCCTTTCCCTTCCCCTCTCCTTT CCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTCCCTT CCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTT TCCCTTCCCCTGTCCTTTCTTCCCTTTCCTTCCCCTTCCCTTCCCCTTCC TTTTCCCTTCCCTTCTTTTCCCATTCCCTTCCCTTCCCTTCCCCTTCCCT TCCCTTCCTTTTCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTT CCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTTT CCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCC CTTCCCTTTCCTTCCCCTTCCCTTCCTTCCCTTCCCCTTCCCTTCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(719): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAG GGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAG GGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAG GGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGAAGGGAAGGG GAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAGGG GAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAA GGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAA GGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGA AGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAA GGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGG GAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGAC GGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGA AGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0151 a0002c0004t0002g0151	1	5	0.2000	726	c.927 others(743): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCC CTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCT TCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTT CCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCT TCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCT TCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCC CCTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCCTTCC CCTTCCCTTCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(719): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0073 a0001c0004t0003g0073	1	76	0.0132	726	c.955 others(743): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C1QTNF12_chr1_1237453_1251722	1248905	G G	GCGAGGGA others(719): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01891.hp1 HG01123.hp2 HG01891.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0051 a0004c0003t0001g0055 a0004c0003t0001g0051 a0004c0003t0001g0055	2	268	0.0075	726	c.-22 others(737): Show c.-2216_-2215insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2184		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(719): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01993.hp1 HG03669.hp2 others(1): Show HG01975.hp1 HG01993.hp1 HG03669.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037	4	82	0.0488	726	c.-23 others(737): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816925	C C	CACACGCG others(719): Show CACACGCGCGCGTGTATGTATGTGTGTACACACGCGCGCGTGTATGTATG TGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTG TGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTG TACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTA CACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACA CACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACA CGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACG CGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCG CGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCG CGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCG TGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTG TATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTA TGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATG TGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTG TGTACACACGCGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0054 a0001c0001t0024g0054	1	250	0.0040	726	c.645 others(743): Show c.645+1285_645+1286insGCGCGCGTGTATGTATGTGTGTACACAC GCGCGCGTGTATGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACAC ACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACAC GCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGC GCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGC GCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGC GTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGT GTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGT ATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTAT GTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGT GTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGT GTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGT ACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTAC ACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACAC ACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(719): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCACCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTC CTATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCC ACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCT GCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGC CCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCC ACCTTCCTGCCCCCTCGCCTGCCACGGCCTACCTTCCTGCCCCCTCGCCT GCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCTACCTTCCTGC CCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCC ACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCT GCCACGGCCCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0018 a0001c0019t0018	a0001c0019t0018g0128 a0001c0019t0018g0128	1	229	0.0044	726	c.411 others(743): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGG CAGGAAGGTAGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTAGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGG CAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTG GGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATAGG AAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(719): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGG GGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGA GCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTG GAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	11	0.0909	726	c.-26 others(735): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCTGCTCTCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCCC CAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGC TCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCC CCCTCCTCCCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCT CCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CRTC3_chr15_90524923_90650345	90647631	T T	TCCCCCTC others(719): Show TCCCCCTCCTCCTTCACACCCCTCATCCTCCACACTCCTCCCCTCCACAC CCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCCCCTCCTCA CCTCTCCTCCTCCACACTCACTCCTCCACACCCCTCCTCCTCACCCCTCC TCAACCTCCACACCACACCCCCTCCACTCCCGGCTCACCTCTCCCCTCCC TCACCCCTCCTCCTCCATACCCCTCCTCCTCCTCCACACCCCTACCCCTC CACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCTCAACCTTCACA TCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCCCTCTCCCCTCATCA CCTCTCTTCCTCCTCCACACCCCTCTTCCTCCACACCCATCCTCCTCCAT GCCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCT CCACACCCCTCCTCCTCCTCCACACCCCTTCTCCTCCTCCACACCCCTCC TTCTCAACCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTT CCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTATGTCCTACTCCACA CCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACC CCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCA TCCTCCTCACCGTTCCTCCACCACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0140 a0001c0001t0010g0140	1	265	0.0038	726	c.54 others(737): Show c.5491_*5492insCCCCCTCCTCCTTCACACCCCTCATCCTCCACAC TCCTCCCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACAC CCCTCCCCCTCCTCACCTCTCCTCCTCCACACTCACTCCTCCACACCCCT CCTCCTCACCCCTCCTCAACCTCCACACCACACCCCCTCCACTCCCGGCT CACCTCTCCCCTCCCTCACCCCTCCTCCTCCATACCCCTCCTCCTCCTCC ACACCCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACAC ACCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACC CCTCTCCCCTCATCACCTCTCTTCCTCCTCCACACCCCTCTTCCTCCACA CCCATCCTCCTCCATGCCTCTCCTCCTCCTCCACACCCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTTCTCCT CCTCCACACCCCTCCTTCTCAACCCTCCTCCTCAACCCTCCTCCTTCACA CCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCT ATGTCCTACTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACC CTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGT CCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2287		chr15	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(719): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGACGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAG CCTATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATG AAATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGC AGTGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG03225.hp1 others(5): Show HG02717.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG04184.hp1 NA18949.hp1 NA18975.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0047 a0001c0001t0062	a0001c0001t0002g0177 a0001c0001t0003g0050 a0001c0001t0016g0250 others(5): Show a0001c0001t0002g0177 a0001c0001t0003g0050 a0001c0001t0016g0250 a0001c0001t0028g0259 a0001c0001t0034g0184 a0001c0001t0035g0193 a0001c0001t0047g0336 a0001c0001t0062g0185	8	278	0.0288	726	c.26 others(737): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAG GGACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCAT AGCTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTC TGCCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAA CGACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCT TGAGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGA ATGTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTG AGCCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGG GATGAGCACGTCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGG TCTTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACT TGTGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACT CCTGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(719): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGATGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAG CCTATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATG AAATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGC AGTGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	271	0.0037	726	c.26 others(737): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAG GGACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCAT AGCTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTC TGCCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAA CGACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCT TGAGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGA ATGTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTG AGCCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGG GATGAGCACATCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGG TCTTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACT TGTGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACT CCTGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DISP3_chr1_11474155_11542551	11522738	G G	GACCCAGC others(719): Show GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CGAGAGCCCAGCCAGGACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0140 a0005c0006t0001g0140	1	106	0.0094	726	c.236 others(745): Show c.2363-1204_2363-1203insACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(719): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGG AGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGGAGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGG AGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGG AGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGGAGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAG GAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0140 a0140	a0140c0077 a0140c0077	a0140c0077t0002 a0140c0077t0002	a0140c0077t0002g0071 a0140c0077t0002g0071	1	214	0.0047	726	c.118 others(745): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCC TCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCC TCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCCCCTCCTCCTCCCCC TCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(719): Show TCACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCC CCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCAT CACCACCACCTCCACCATCACCTCCACCACCACCACCTCCTCCACCATCA CCACCAGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCAC CTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCA CCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACC ATCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCGTCACCACCTTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02055.hp1 HG02572.hp2	a0001 a0010 a0001 a0010	a0001c0065 a0010c0161 a0001c0065 a0010c0161	a0001c0065t0014 a0010c0161t0002 a0001c0065t0014 a0010c0161t0002	a0001c0065t0014g0084 a0010c0161t0002g0234 a0001c0065t0014g0084 a0010c0161t0002g0234	2	167	0.0120	726	c.323 others(745): Show c.3234+1573_3234+1574insCCTCCTTCACCATCACCACCACCACC ACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCAC CACCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCC ACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCAC AACATCCACCACCACCATCACCACCACCTCCACCATCACCTCCACCACCA CCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCACC ACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTC CTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCA TCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCACCACCACTTCCACCATCACCAC CTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCTCCACCA CCACCACCACCTCCACCATCACCACCACCACCACCACCACCACTTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(719): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACC ACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTC CACCACCACCTCCTCCACTGCCACCACCATCTTCACCATCACCACCACCA CCTCCATCACCACCACCTCCACCACCACCACCACCTCCATCACCACCACC ACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCAC CACCACCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCA CCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAAT ATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0191 a0002c0005t0001g0191	1	155	0.0065	726	c.323 others(745): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATC ACCACCACCACCTCCATCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCT CCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTGCCACCACC ATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCAC CACCACCTCCATCACCACCACCACCACCACCACCACCACTTCCACCATCA CCACCTCCTTCACCATCACCACCACCACCACCACCACCACCACCTCCACC ACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCAT CGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619093	G G	GCCCCCCC others(719): Show GCCCCCCCTGCTCCCCTCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCACGCTCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTG CAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCC TGCTCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCTCC CCCGCTCCCCTCCCTGCAGCCCCCTGC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	179	0.0056	726	c.-10 others(745): Show c.-107+5380_-107+5381insCTGCTCCCCTCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCACGCTCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC3L4_chr14_103089725_103115559	103109689	C C	CTCCCTCC others(719): Show CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGTCCCCGTGT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0002 a0003c0041t0002	a0003c0041t0002g0178 a0003c0041t0002g0178	1	392	0.0026	726	c.197 others(743): Show c.1977-342_1977-341insTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCC TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACC CTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGT	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11			chr14	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(719): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCCT CTCTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCT TCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTC CCTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTC TCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCT CTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCT CCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCCTCTCCT TCTCTCCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTC TCCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCC TCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTC CCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTC TCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCC ACCCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	4	0.2500	726	c.126 others(743): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAG GGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAG AGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGGAGAGAA GGAGAGGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGA GAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGA GGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAG AGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGG AGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAA GAGAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGA GGGGTAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGG GGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGG GGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar

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