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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SGK3_chr8_66707781_66867022	66772144	G G	GGAGTGCA others(700): Show GGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCAGGTT CACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCC CGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGAACTC TAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTAATCC AAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAGTTTG AGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATACAAA AATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCC AAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCT CAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTTTTAG AGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTGTCAC CCATGCTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00741.hp1 others(63): Show HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18946.hp1 NA18952.hp2 NA18957.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0080 a0001c0001t0009g0089 a0001c0001t0010g0107 a0001c0002t0002g0039 a0001c0003t0001g0101	66	131	0.5038	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTAGAGTGCAGTGG		SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66772144	G G	GGAGTGCA others(700): Show GGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCAGGTT CACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCC CGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGAACTC TAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTAATCC AAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAGTTTG AGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATACAAA AATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCC AAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCT CAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTTTTAG CGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTGTCAC CCATGCTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	66	0.0152	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGCGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTAGAGTGCAGTGG		SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66772144	G G	GGAGTGCA others(700): Show GGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCAGGTT CACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCC CGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGAACTC TAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTAATCC AAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAGTTTG AGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATACAAA AATTAGCCAGGCGTGGTAGTGCACTCCTGTAATTCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCC AAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCT CAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTTTTAG AGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTGTCAC CCATGCTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp1 HG02523.hp1 others(4): Show HG01175.hp2 HG01261.hp1 HG02523.hp1 HG03669.hp1 HG03688.hp2 NA18982.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0102 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0119	7	72	0.0972	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATTCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTAGAGTGCAGTGG		SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(700): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGAGAAG AGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGG GGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGA GGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGA GGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGG AGGAGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 NA18522.hp2 others(1): Show HG01891.hp1 HG02572.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0003g0031 a0001c0001t0003g0193 a0001c0001t0001g0048 a0001c0001t0003g0031 a0001c0001t0003g0193	4	5	0.8000	707	c.624 others(722): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC TTCTCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCC TCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCT TCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTC CTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCT TTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCT CCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCAC CTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTT TTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCT CCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTC CTCTCTTTTCTCCCTCCACCTCCCTTC		SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6						chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(700): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGAAGGGGAAGGGGGAGGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGAAGGGGGA AGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGG GGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGG TGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	707	c.12 others(718): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTCCCCTCCCCCTCC CTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCTCCCTCCTCC CCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCCTCCCCCTTCCCCTT CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTC CTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCT CCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTC ACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCT CCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCC CTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTCC		SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding					1137		chr19	TogoVar
STOML3_chr13_38960925_38995831	38988216	G G	GATATTTT others(700): Show GATATTTTATATAAAATATATTATATTTTATATAAAATATATGATATTTT ATATCATATATTTTATATAAAATATATGATATTTTATATCATATATTTTA TATAAAATATATGATATTTTATATCATATATTTTATATAAAATATATGAT ATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCATATA TTTTATATCATATATTTTATATAAAATATATGATATTTTATATCATATAT TTTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATATA TGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA TATATTTTATATATAATATATGATATTATATATAAAATATATTATATTTT ATATAAAATATATTATATTTTATATAAAATATCATATATTTTATATAAAA TATATTATATTTTATATAAAATATATTGTATTTTATATAAAATATATTAT ATTTTATATCATATATTTTATATAAAATATATTATATTTTATATCATATA TTTTATATAAAATATATTATATTTTATATCATATATTTTATATAAAATAT ATTATATTTTATATCATATATTTTATATAAAATATATTATATTTTATATC ATATATTTTATATATAATATATTATATTTTATATCATATATTTTATATAT AATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	260	0.0038	707	c.52+ others(722): Show c.52+2453_52+2454insAATATATTATATATAAAATATATGATATAA AATATAATATATTATATATAAAATATATGATATAAAATATAATATATTTT ATATAAAATATATGATATAAAATATAATATATTTTATATAAAATATATGA TATAAAATATAATATATTTTATATAAAATATATGATATAAAATATAATAT ATTTTATATAAAATATATGATATAAAATATAATATATTTTATATAAAATA CAATATATTTTATATAAAATATAATATATTTTATATAAAATATATGATAT TTTATATAAAATATAATATATTTTATATAAAATATAATATATTTTATATA TAATATCATATATTATATATAAAATATATGATATAAAATATCATATATTT TATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATATG ATATAAAATATCATATATTTTATATAAAATATATGATATAAAATATCATA TATTTTATATAAAATATATGATATAAAATATATGATATAAAATATCATAT ATTTTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATA TATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATAT CATATATTTTATATAAAATATATGATATAAAATATCATATATTTTATATA AAATATAATATATTTTATATAAAATAT		STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6						chr13	TogoVar
SULT2B1_chr19_48547172_48604423	48583017	C C	CGTGCGTG others(700): Show CGTGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCA CCTGAGCCTAGAAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCATAACA CTCCAGCCTGGGGAAGAGTAAGACCTTGACTCAGAAAACAAAACAAAACA AAACAAAACAAAACAAAACAGCCGGGCATGGTGGCATGTACCTGGAATCC CAGCTACTCAGGAGGTTGAGGCTCAATCATCACTTGACCCCGGGAGGTGG AGGTTGCAGTGAGCCGAGATTGCACCACTGAACTGCAGCCTGGATGACAG AGCGAGAGTATGTCTCAGAGAGAGAGAAAGAGAGAGAGAGAAAGAGAGAG AGAGAAAGAATTATTTGCACACATTACGTGGCTATTATTTAGAAAATAAC ATGTGGCCAGGTGCAGTGGCTCATACCTATAATCCCAACACTTTGGGAGG CCGAAGTGGGAGGATTGCTTGAGCCCAGGATTTCAAGACCAGCCTGGGCA ACATAGCGAGACCCTGTCTCTGTTAAAAAAAAATTTTTTTGTAAGAAAAA AAACAGAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAACACTTC GGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCC TGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAGTTAGCTGG GCGTGGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG06807.hp2 HG01891.hp2 HG02451.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0365 a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0365	3	291	0.0103	707	c.215 others(724): Show c.215-4208_215-4207insGTGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGTGGGAGAATCACCTGAGCCTAGAAGGTTGAGGCTGCAGTGAGCC ATGATTGTGCCATAACACTCCAGCCTGGGGAAGAGTAAGACCTTGACTCA GAAAACAAAACAAAACAAAACAAAACAAAACAAAACAGCCGGGCATGGTG GCATGTACCTGGAATCCCAGCTACTCAGGAGGTTGAGGCTCAATCATCAC TTGACCCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGAAC TGCAGCCTGGATGACAGAGCGAGAGTATGTCTCAGAGAGAGAGAAAGAGA GAGAGAGAAAGAGAGAGAGAGAAAGAATTATTTGCACACATTACGTGGCT ATTATTTAGAAAATAACATGTGGCCAGGTGCAGTGGCTCATACCTATAAT CCCAACACTTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCCAGGATTT CAAGACCAGCCTGGGCAACATAGCGAGACCCTGTCTCTGTTAAAAAAAAA TTTTTTTGTAAGAAAAAAAACAGAATAGGCCAGGCGCAGTGGCTCATGCC TGTAATCCCAACACTTCGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCA GGAGTTTGAGACCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAA AATACAAAGTTAGCTGGGCGTGGTGGTGC		SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
TCF25_chr16_89868592_89916379	89908710	C C	CCTCCCTC others(700): Show CCTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCGC CTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGC TCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCT CCCGGCTTCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTC CTGCCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCC CATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCC AGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTA GTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCTC CTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCC TCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCT CCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTC CCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCC CAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCC AGCTCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCGCCTCCCG CCTCCCAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	104	0.0096	707	c.179 others(726): Show c.1799+1393_1799+1394insTCCTCCCAGCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTTCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCTGCCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACC TCCTTCCTCGCAGTTCCCAGCTCCCAGCTCCCACCTTCCAGCTCCCAGCT CCCAGCTCCCGCCTCCCGCCTCCCAGCTCCC		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TOR4A_chr9_137272726_137287641	137286007	T T	TATGTTGG others(700): Show TATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCTTCCTGC CTCATCTTCCCAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCCT AATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTATGTTGGCCAGA CTGGTCTTGAACTCCTGACCTCAGGTGATCTTCCTGCCTCATCTTCCCAG TGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTAATTTTTGTATTT TTTAGTAGAGACGGGGTTTCACTGTATGTTGGCCAGACTGGTCTTGAACT CCTGACCTCAGGTGATCTTCGCACCTCAGCTTCCCAGTGTTGGGATTACA GGCGTGAGCCACTGTGCCTGGCTGTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGTTGCCCAGGCTAGAGTGAAGCGATCTTGGCTCACT GCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGA GTAACTGGGACTACAGGCAACTGCCACCACGCCCGGCTAATTTTTGTATT TTTAGTAGAGAGGGGGTTTCGCCATCTTGACCAGGCTGGTCTCGAATACT TCTGACCTCGTTATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACA GGCGTGAGCCACCGTGCCCGGTCAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0018 a0002c0008t0018	a0002c0008t0018g0001 a0002c0008t0018g0001	1	406	0.0025	707	c.60 others(718): Show c.6046_*6047insATGTTGGCCAGACTGGTCTTGAACTCCTGACCTC AGGTGATCTTCCTGCCTCATCTTCCCAGTGTTGGGATTACAGGCGTGAGC CACTGCACCTGGCCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCAC TGTATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCTTCCT GCCTCATCTTCCCAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGC CTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTATGTTGGCCA GACTGGTCTTGAACTCCTGACCTCAGGTGATCTTCGCACCTCAGCTTCCC AGTGTTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTGTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGTTGCCCAGGCTAGAGTGAAG CGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCT GCCTCAGCCTCCTGAGTAACTGGGACTACAGGCAACTGCCACCACGCCCG GCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCGCCATCTTGACCAGG CTGGTCTCGAATACTTCTGACCTCGTTATCCACCCACCTCGGCCTCCCAA AGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCGGTCAATTTTTGTATT TTTAGTAGAGACAGGGTTTCACC		TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding					3367		chr9	TogoVar
TP73_chr1_3647516_3741201	3694751	G G	GCCCTGCA others(700): Show GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCC ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAAT CCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCC TCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCC TGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0060 a0001c0005t0060	a0001c0005t0060g0178 a0001c0005t0060g0178	1	280	0.0036	707	c.186 others(726): Show c.186+11573_186+11574insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCTTCCTCCCGCAATCCCACCCATGCA GCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCT CCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCC ATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAAT CCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCC TCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCC TGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCA TGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCC TCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCC AGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCA GCCTCAGCCCCCTCCTCCCACAATCCCACCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(700): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCC CCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	148	0.0068	707	c.186 others(726): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCC CACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC AGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTG CAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCCT CCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA CCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(700): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCC CCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(59): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02698.hp2 HG03017.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18968.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18995.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0015 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0033 a0001c0001t0040 a0001c0001t0048 a0001c0001t0052 a0001c0001t0054 a0001c0002t0001 a0001c0002t0008 a0001c0002t0025 a0001c0003t0006 a0001c0003t0017 a0001c0006t0001 a0001c0007t0011 a0001c0009t0006 a0001c0009t0017 a0001c0015t0006 a0001c0022t0002	a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0051 others(59): Show a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0112 a0001c0001t0002g0127 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0002g0187 a0001c0001t0002g0207 a0001c0001t0002g0223 a0001c0001t0002g0237 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0287 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0312 a0001c0001t0002g0325 a0001c0001t0002g0345 a0001c0001t0004g0104 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0007g0311 a0001c0001t0007g0343 a0001c0001t0013g0056 a0001c0001t0013g0281 a0001c0001t0013g0321 a0001c0001t0033g0054 a0001c0001t0040g0141 a0001c0001t0048g0327 a0001c0001t0052g0137 a0001c0001t0054g0269 a0001c0002t0001g0058 a0001c0002t0001g0133 a0001c0002t0001g0240 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0317 a0001c0002t0001g0320 a0001c0002t0008g0319 a0001c0002t0025g0277 a0001c0003t0006g0148 a0001c0003t0006g0307 a0001c0003t0017g0180 a0001c0006t0001g0059 a0001c0007t0011g0078 a0001c0009t0006g0076 a0001c0009t0017g0265 a0001c0015t0006g0238 a0001c0022t0002g0100	62	209	0.2967	707	c.186 others(726): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCC CACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC AGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTG CAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCT CCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA CCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(700): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCTAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCC CCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0348 a0001c0001t0007g0348	1	148	0.0068	707	c.186 others(726): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCTAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCC CACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC AGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTG CAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCT CCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA CCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(700): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCTCTCCTCCCGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCC CCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	148	0.0068	707	c.186 others(726): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCTCTCCTC CCGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCC CACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC AGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTG CAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCT CCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA CCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCC		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL8_chr22_50013575_50063298	50028618	G G	GAAGACCC others(700): Show GAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGA CCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACAC TCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTA AAGACCCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGAC CCCATCACACCATCCTGAAGACCCCCACCATGCCCTCGTAAAGACCCCCA TCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAGAC CCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCCCAC ACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATACCC TCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0032 a0009c0020t0001g0032	1	172	0.0058	707	c.225 others(726): Show c.2251+1811_2251+1812insTAGGACGGTGTGATGGGGTCTTTACG AGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATG GTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGA CGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGG CATGGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGGTCTCTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGAT GGGGGTCTTTACGAGGGTATGTGGGGGTCTT		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(700): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATAATAATATATATATATTATTATATATAATTATATATAATAATATA ATATATATTATTATATATAATTATATATAATAATATAAATATATTATTAT ATATTATTATATATAATAATATAATATATATTATATATTATTATATATAA TAATATAATATATATTATATATTATTATATATAATAATATAATATATATT ATTATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATAATATATATTATTATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATAATATAATATATATTATTATATA TTATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0012	1	83	0.0120	707	c.392 others(724): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATAATAATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATAATATATAAT AATATATATTATATTATTATATATAATAATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TAATATATAATAATATATATTATATTATT		TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20						chr14	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(700): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATAT ATTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTAT TACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATT TTTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTA TACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAA GATACAAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG02055.hp2 others(15): Show HG00544.hp2 HG00639.hp2 HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0278 a0001c0001t0001g0302 a0001c0001t0001g0351 others(11): Show a0001c0001t0001g0278 a0001c0001t0001g0302 a0001c0001t0001g0351 a0001c0001t0001g0353 a0002c0002t0001g0322 a0002c0002t0005g0002 a0002c0002t0005g0115 a0002c0002t0005g0116 a0002c0002t0005g0118 a0002c0002t0005g0119 a0002c0002t0005g0120 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0123	18	23	0.7826	707	c.209 others(724): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGCATATCTGTTGAT CCAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTAC TAATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTC TTCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTC TTATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGA GATTACATAAAACTTCTAAAAGATACAAC		ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3						chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(700): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAGTCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATAT ATTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTAT TACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATT TTTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTA TACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAA GATACAAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0040 a0001c0001t0022g0040	1	6	0.1667	707	c.209 others(724): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAGT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGCATATCTGTTGAT CCAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTAC TAATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTC TTCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTC TTATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGA GATTACATAAAACTTCTAAAAGATACAAC		ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3						chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(700): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCGTTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAAA ACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAATC GTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAAA AAAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATAT ATTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTAT TACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATT TTTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTA TACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAA GATACAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(24): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01943.hp2 HG01978.hp2 HG02273.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 HG04204.hp2 NA18980.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0019 a0002c0002t0002 a0002c0002t0010 a0002c0002t0019	a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0026 others(19): Show a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0026 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0171 a0002c0002t0002g0180 a0002c0002t0010g0345 a0002c0002t0019g0170	27	32	0.8438	707	c.209 others(724): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCGTTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGCATAGTGGTGGGTACCTGTAATC CCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTTG AGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACAA AAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGCATATCTGTTGAT CCAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTAC TAATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTC TTCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTC TTATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGA GATTACATAAAACTTCTAAAAGATACAAC		ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3						chr7	TogoVar
ZNF627_chr19_11592483_11624161	11613146	C C	CCTCCCCT others(700): Show CCTCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCC TCCCCCCCTCCCCTTCCCGACCTCCCTCCCCCGTCCCCTCCCCCTCTTCC TCCCCGTCCCCCCTACCCCTCCCCCTTCCACCTCTCCCCTCCTCCTCTCC TCCTCCCACCCCCTCCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCT CCCCCTTCCTCCTCCCCTTCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCC CTTCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTC CCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCT CCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCTCCTCCTCCCCCTC CCCCTCCTCCCTCCCCCTCCCCCTCCTCCCTCCCCTCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCTTCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTA CCCTCCCCTCTCCTCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCC CCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCC TCCCCTCCCCATCTTCCTCCCCTCCCCATCTTCCCTCCCTCTACTCCCGT CACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTT CCCCCTCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	320	0.0031	707	c.4-1 others(720): Show c.4-1376_4-1375insCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCC TCTCCTCCTCCCTCCCCCCCTCCCCTTCCCGACCTCCCTCCCCCGTCCCC TCCCCCTCTTCCTCCCCGTCCCCCCTACCCCTCCCCCTTCCACCTCTCCC CTCCTCCTCTCCTCCTCCCACCCCCTCCCCCTCCCCCTTCCCTCCTCCCT CCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTCCCCTCCCCCTTCC TCCTCCCCTTCCCTTCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCTC CTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCCTCCTCCCTCCCCTCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCTCTCTTCCTCTCCCCT TCCCCTCCCCTACCCTCCCCTCTCCTCCCCTCCTCTTCCCCTCTCCTCCC CTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCC TCCCCTCCTCCCTCCCCTCCCCATCTTCCTCCCCTCCCCATCTTCCCTCC CTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTC CCCTCTCCCCTTCCCCCTCACTCCC		ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(700): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCC GCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACC GCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCC GCGCCCACGGCAGTCACCGCGCAATCCCCCCTCCGCGCCCACGGCAGTCA CCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATT CCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCA CGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCA TTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCCCCTTCCGCGCCCACGGCAGT CACCGCGCATTCCCCCGCCGCGCCCACGGCAGTCACCGCGCATTCCGCAT TCCCCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0263 a0001c0001t0006g0263	1	314	0.0032	707	c.-10 others(724): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGCGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAAGG GGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGAC TGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGG CGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATG CGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTG GGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAG GGGGGATTGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG AGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAA TGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCG TGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGG AATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGC CGTGGGCGCGGAGCGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGC GGAATGCGCGGTGACTGCCGTGGGCGCGG		ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2						chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(701): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATA TATCAATATATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	160	0.0063	708	c.130 others(727): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATAAATATAAAAATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(701): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATATTTT ATATATAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATA TACTATATATATATTTTATGTATAGTATGTACTATATATATTTTATGTAT AGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT CATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	159	0.0063	708	c.505 others(727): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATA TATATAGTACATACAGTATATATACTATACATGAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACAGTATATATACTATACATAAAATATATATAGTACATACTATACATA AAATATATATATAGTATATACAATGTACATACTATACATAAAATATATAT AGTACATACTATACATAAAATATATATATAGTATATACAATGTACATACT ATATATAAAATATATATAGTACATACTATATATAAAATATATATAGTACA TACTATATATAAAATATATAGTACATACTATATATAAAATATATAGTACA TACTATATATAAAATATATAGTACATACTATATATAAAATATATAGAGTA CATACTATATATAAAATATATAGAGTACATAC		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(701): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	154	0.0065	708	c.136 others(725): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGA		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964867	A A	ATGGAAAG others(701): Show ATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	23	0.0435	708	c.137 others(725): Show c.137-5126_137-5125insATGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGA TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCC CAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGG AAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGA AATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAA CGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAA AGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTG GAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGAT GGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATA ATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTA AAGGAAATAATCCCAGATGGAAGCGTGGAG		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP2_chr2_9201812_9410678	9406452	A A	AGTCTTCC others(701): Show AGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTC AATGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTC AGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTG TGACATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0209 a0001c0002t0003g0209	1	110	0.0091	708	c.31 others(719): Show c.3125_*3126insGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGT GTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGT GTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGT CTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCA CTGAGTGGACCTCTGTGACATCTC		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					775		chr2	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(701): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	291	0.0034	708	c.-22 others(725): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTC GCCTCCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCC		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP46_chr10_132803392_132947570	132826457	G G	GGAGCCAT others(701): Show GGAGCCATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGC CGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCTGGAGCCACGGA GACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAG AGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAG AGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACG GAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGG AGCCAGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCAC GGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAG GAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCA CGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCC ACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAGAGCCAGGC AGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAGAGACCAGC CACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCATGGAGCCAGG CAGGAGCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(64): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0007 a0017 a0021 a0035 a0038 a0058 a0062 a0063 a0072 a0073	a0002c0002 a0002c0003 a0002c0023 others(19): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0028 a0003c0080 a0004c0019 a0004c0038 a0004c0052 a0007c0008 a0017c0031 a0021c0033 a0035c0035 a0038c0066 a0058c0048 a0062c0051 a0063c0067 a0072c0053 a0073c0055	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(20): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0028t0002 a0003c0080t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0007c0008t0002 a0017c0031t0002 a0021c0033t0001 a0021c0033t0004 a0035c0035t0001 a0038c0066t0001 a0058c0048t0001 a0062c0051t0001 a0063c0067t0002 a0072c0053t0001 a0073c0055t0001	a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(62): Show a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0179 a0002c0002t0001g0185 a0002c0002t0001g0189 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0207 a0002c0002t0001g0219 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0136 a0002c0003t0001g0159 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0188 a0002c0023t0001g0198 a0002c0023t0001g0204 a0002c0045t0001g0191 a0002c0054t0001g0138 a0003c0007t0002g0056 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0061 a0003c0007t0002g0062 a0003c0007t0002g0063 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0088 a0003c0028t0002g0002 a0003c0080t0002g0075 a0004c0019t0001g0158 a0004c0019t0001g0233 a0004c0038t0001g0194 a0004c0052t0001g0169 a0007c0008t0002g0076 a0017c0031t0002g0073 a0021c0033t0001g0237 a0021c0033t0004g0238 a0035c0035t0001g0135 a0038c0066t0001g0232 a0058c0048t0001g0226 a0062c0051t0001g0157 a0063c0067t0002g0013 a0072c0053t0001g0173 a0073c0055t0001g0164	67	222	0.3018	708	c.711 others(727): Show c.7117+6900_7117+6901insTGGCTCCTGCCTGGCTCCATGGCTGG TCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTC CAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGG GTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCTGGCCCCTGCC TGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCGTGGC TGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGG CTCCGGCTCCTGCCTGGCTCCATGGCTCTGGCTCCTGCCTGGCTCCGTGG CTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGTCTCTGTG GCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCAGTTCCT GCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGGGTCTCTGC GGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCAGCCCC TGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTCCCTGGCTCCG TGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCTGGCTCCTGCCTGGCTCCATGGCTC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(701): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCGGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGA GGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAG GGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGAG GGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	11	0.0909	708	c.-26 others(717): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCCA GCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCC TCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCTCC		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding					83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(701): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCGGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGAG GGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0052 a0001c0003t0002g0052	1	11	0.0909	708	c.-26 others(717): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCT CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCCA GCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCC TCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCTCC		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding					83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(701): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG AGGAGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCT GGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGGAGCTGGGGAG GGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAG GAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGGAGAAGAGGAG GGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0084 a0001c0001t0008g0084	1	11	0.0909	708	c.-26 others(717): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCCTCCACTGCTC CCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTC CTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCCTCCTCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCT CCTCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC CTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCC TGCTCCCCCTCCTCCCCCCTCC		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding					83		chr20	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(701): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTTTATATATATAATTTTATAT ATAAATATATATAATTATATATTTATATATAAATATATATAATTATATAT TTATATATAAATATATATAATTTTATATATAATATATATAATTTTATATA TTATATATAAATATATATATAATTTATATATAAATATATAAAATTATATA TAAATATATATAATTTATATATAAATATATATAATTATATATAAATATGT ATAATTTTATATATATAAATAGATATAATTTTATATATTTATTTATATAA ATTTTATATATTTATATAAATAAATATATATTTATATATAAAAATTTATA TACAAATATATATAAATATATACAAATATATATATAAATTTATATAAATA TATATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG03209.hp1 others(3): Show HG01243.hp1 HG02559.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 NA18906.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0009c0012	a0001c0001t0008 a0001c0005t0001 a0001c0006t0002 others(2): Show a0001c0001t0008 a0001c0005t0001 a0001c0006t0002 a0001c0006t0004 a0009c0012t0009	a0001c0001t0008g0053 a0001c0005t0001g0091 a0001c0006t0002g0051 others(3): Show a0001c0001t0008g0053 a0001c0005t0001g0091 a0001c0006t0002g0051 a0001c0006t0002g0060 a0001c0006t0004g0004 a0009c0012t0009g0093	6	47	0.1277	708	c.56- others(725): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TTTATATATATAATTTTATATATAAATATATATAATTATATATTTATATA TAAATATATATAATTATATATTTATATATAAATATATATAATTTTATATA TAATATATATAATTTTATATATTATATATAAATATATATATAATTTATAT ATAAATATATAAAATTATATATAAATATATATAATTTATATATAAATATA TATAATTATATATAAATATGTATAATTTTATATATATAAATAGATATAAT TTTATATATTTATTTATATAAATTTTATATATTTATATAAATAAATATAT ATTTATATATAAAAATTTATATACAAATATATATAAATATATACAAATAT ATATATAAATTTATATAAATATATATAAAT		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24						chr3	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(701): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0003 a0001c0075t0003	a0001c0075t0003g0081 a0001c0075t0003g0081	1	180	0.0056	708	c.85- others(725): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(701): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGATAATGGTC AGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGGGTGAGGGGCAGGCGG GGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0195 a0001c0003t0001g0195	1	144	0.0069	708	c.17 others(719): Show c.1711_*1712insCCCCTCACCCCGCCTGCCCCTCACCCCGCCTGTC CCTCACCCCGCCTGGCCCTTCCTCTGACCATTATCCCGCCTGCCCCTCAC CCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGCCCCTCACCCCGCC TGGCCCTTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCC TCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCC CGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTG CCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCCTT CCTCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTG CCCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTT CCTCTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTG GCCCTTCCTGTGACCCTCAGCCCGCCTGGCCCTTCCTGTGACCCTCACCC CGCCTGGCCCTTCCTGTGACCCTCAGCCCGCCTGGCTCTTCCTGTGACCC TCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCTCTTCCTG TGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCC TTCCTGTGACCCTCACCCCGCCTG		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding					1394		chr11	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(701): Show CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC GCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCAC CCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	264	0.0038	708	c.39 others(719): Show c.3990_*3991insAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGCGGG TGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGG TGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2500		chr20	TogoVar
DOCK8_chr9_209865_470255	400963	C C	CTCCACCA others(701): Show CTCCACCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCC ACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTT CACCATCACCACCTCCACCACCTCCACCATCACCACCACCACCTTCTCCA CCACCACCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACCACCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCA CCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCTCCACCACC AGCACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCTC CACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCA CCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCC AATATCACT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0002 a0004c0041t0002	a0004c0041t0002g0197 a0004c0041t0002g0197	1	227	0.0044	708	c.323 others(727): Show c.3234+1704_3234+1705insTCCACCACCACCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCAGC ACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCTCCAC CATCACCACCACCACCTTCTCCACCACCACCACCACCAGCACTTCCACCA TCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCACCTCCAC CATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTC ACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCAC CACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATA TTATCACCTTTCCTATCACCTCCAATATCACT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47						chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634538	C C	CCCTTTCC others(701): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	213	0.0047	708	c.105 others(725): Show c.105-1370_105-1369insCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTT		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10						chr16	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(701): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGATAATGGTC AGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGGGTGAGGGGCAGGCGG GGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	172	0.0058	708	c.22 others(719): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGAGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGG CGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGG CAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCG GGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGA GGGGCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCA GGCGGGATAATGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGG GTGAGGGGCAGGCGGGGTGAGGGG		DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding					2133		chr11	TogoVar
EXOC2_chr6_480154_698139	601974	A A	ACACATTC others(701): Show ACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGT GTGCGAATC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18992.hp2 NA18962.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0099 a0001c0002t0003g0054 a0001c0002t0001g0099 a0001c0002t0003g0054	2	263	0.0076	708	c.743 others(725): Show c.743-2750_743-2749insGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTG GATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATT CGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGG GTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGG TGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATG TGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGGATTCG CACACGGGGTGTTCTTGGTGTGAGAATGTG		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27						chr6	TogoVar
FERMT1_chr20_6069845_6128030	6125413	C C	CTGTCCTA others(701): Show CTGTCCTAGGCTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTT TTATTATTTTTTTATTTTTATTTATTTATTTATTTATTTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTG CGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAA AGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTAT ATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG GTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGC ATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGT AATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAA TTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAAC AGTGTAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0018 a0001c0016t0018	a0001c0016t0018g0187 a0001c0016t0018g0187	1	356	0.0028	708	c.-26 others(719): Show c.-2659_-2658insTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACT ATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAG ACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCC ATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGA AACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCA TATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGA GGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTG CAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAATAAATAAATAA ATAAATAAAAATAAAAAAATAATAAAAAAATAAAACCCCCTAAAAAAAAA AAAAAAAAAAAAAAGCCTAGGACA		FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding					2384		chr20	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(701): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACACAATCACCACATAGATAC ACACCACACACACACACACACATCACCACATAGATACACACCACACACAC ATCACCATACAGATACACACCACACACACATCTCCACACATTACCATACA AATATACGCCACCCACACACACCCACACATCACCACACAGATACACACCA CAGACACATAATCACCACACACCAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACACATACCACACAC ACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATCACCA CGCAGATACACACCCCACACAGACACATGCACACACATCACCACACACAC ACCACACACACACATTGCCACACAGACACACACCCACATCACCACACAGC TACATACCACACACACACACCACCACACATCACCACACAGATGCACAACA CACACCCACACATCACCACACAGACACACACACACACATCATCAGATACA CACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATACA CACCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp1 HG02027.hp1 others(17): Show HG00408.hp1 HG01884.hp1 HG02027.hp1 HG02071.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp1 HG03516.hp2 NA18990.hp1 NA18995.hp1 NA19054.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0012	a0001c0002t0001 a0001c0002t0006 a0001c0002t0018 others(4): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0018 a0001c0003t0004 a0001c0005t0005 a0001c0006t0011 a0001c0012t0001	a0001c0002t0001g0015 a0001c0002t0001g0081 a0001c0002t0001g0099 others(16): Show a0001c0002t0001g0015 a0001c0002t0001g0081 a0001c0002t0001g0099 a0001c0002t0001g0145 a0001c0002t0001g0181 a0001c0002t0006g0121 a0001c0002t0006g0124 a0001c0002t0006g0185 a0001c0002t0006g0191 a0001c0002t0006g0219 a0001c0002t0006g0252 a0001c0002t0018g0264 a0001c0002t0018g0265 a0001c0003t0004g0095 a0001c0005t0005g0002 a0001c0005t0005g0173 a0001c0005t0005g0274 a0001c0006t0011g0131 a0001c0012t0001g0016	20	216	0.0926	708	c.737 others(727): Show c.737-11238_737-11237insTGTGTGGTGTGTATCCGATGACGTGT GTGTGGTATCTGTGTGGTGACGTGCATGTGGTGTGTATCTGATGATGTGT GTGTGTGTGTCTGTGTGGTGATGTGTGGGTGTGTGTTGTGCATCTGTGTG GTGATGTGTGGTGGTGTGTGTGTGTGGTATGTAGCTGTGTGGTGATGTGG GTGTGTGTCTGTGTGGCAATGTGTGTGTGTGGTGTGTGTGTGGTGATGTG TGTGCATGTGTCTGTGTGGGGTGTGTATCTGCGTGGTGATTTGTGGGTTT GTACCTGTGTGGTGGTGTGTGGTGATTGTGTGTGTGTGTGGTATGTGTGT GGTGATGTGTGGGTGTGTGTGGTGTGTATCTGTGTGGTGCGTGGTGTGTA TCTGTGTGGTGATGTATGGGGGTGTGTGTGGTGTGTATCTGTGTGGTGAT GTGTGTGTCTGGTGTGTGGTGATTATGTGTCTGTGGTGTGTATCTGTGTG GTGATGTGTGGGTGTGTGTGGGTGGCGTATATTTGTATGGTAATGTGTGG AGATGTGTGTGTGGTGTGTATCTGTATGGTGATGTGTGTGTGGTGTGTAT CTATGTGGTGATGTGTGTGTGTGTGTGTGGTGTGTATCTATGTGGTGATT GTGTGTGTGTGTGTGGTCTGTATCTGTGTGATATGTGTGTGTGTTGTGTA TCTGTGTGGTGATGTGTGAGTCTGTGTGTGGG		GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10						chr6	TogoVar
GTPBP6_chrX_299759_323796	323556	G G	GTGTGTGT others(701): Show GTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTG GGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGG TGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTC TCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGG CGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGC CCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGA CGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTC CTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCG TCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCA TAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTG TGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTC CGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGAGC TCAGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0002 a0006c0009t0001g0002	1	149	0.0067	708	c.-47 others(719): Show c.-4770_-4769insTGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACGTCCCTGAGCTCACCACC TGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGA GCCCAGGAGATTGACGGCTACACACACACACACACACACACACACACACA CGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACA GGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACAC ACACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGGGACG CCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGA GACTGACGGCTACACACACACACACACACACACACACACACACACAAACG TCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGG GCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACAC ACACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCAT CTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTA CACACACACACACACACACACACA		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4761		chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(701): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTATA TTTTATTATATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTT ATTTTATATTTTATTTTATATTTTATTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0109	1	207	0.0048	708	c.41- others(723): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAATAAAATATAAAATAAAATATAAAATAAAATATAAAATAAAATATAA AATAAAATATAAAATAAAATATAATAAAATATAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAA		HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1						chr14	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(701): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCATCACCACCACCATCACCATCATCACCATCATCACCGCCACCA CCACCACCACCATCACCATCATCACCACCACCACCATCACCACCACCACC ACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCAC CATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCG CCACCACCACCACCACCATCACCACCACAACCACCACCACCACCACCATC ACCACCACTACCACCACCACCACCACCATCACCACCACCACTACCATCAT CACCACCAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	231	0.0043	708	c.-25 others(725): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCATCACCACCACCATCACCATCATCACC ATCATCACCGCCACCACCACCACCACCATCACCATCATCACCACCACCAC CATCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCA CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCAC CACCACCACCACCATCACCACCACTACCACCACCACCACCACCATCACCA CCACCACTACCATCATCACCACCACCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(701): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCATCACCACCACCATCACCATCATCACCATCATCACCGCCACCA CCACCACCACCATCACCATCATCACCACCGCCACCATCACCACCACCACC ACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCAC CATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCG CCACCACCACCACCACCATCACCACCACAACCACCACCACCACCACCATC ACCACCACTACCACCACCACCACCACCATCACCACCACCACTACCATCAT CACCACCAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	231	0.0043	708	c.-25 others(725): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCATCACCACCACCATCACCATCATCACC ATCATCACCGCCACCACCACCACCACCATCACCATCATCACCACCGCCAC CATCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCA CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCAC CACCACCACCACCATCACCACCACTACCACCACCACCACCACCATCACCA CCACCACTACCATCATCACCACCACCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HRNR_chr1_152207076_152229193	152214059	C C	CAGAAGAC others(701): Show CAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGA CCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGCAGA ACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTTGAC CGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAGCCAGAA GAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCACCCTGA GCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCAGAACCAGACCCAT GTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGG CCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCTGGA AGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTAGATGACTGTCCTG ACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCA TGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCATGGTGACCAAA TCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACC AACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCG GACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTG GCCATAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0107 a0001c0107	a0001c0107t0001 a0001c0107t0001	a0001c0107t0001g0160 a0001c0107t0001g0160	1	416	0.0024	708	c.756 others(717): Show c.7569_7570insAGCTATGGCCAACAGGGCTCTGGATCTGGCCAGTCT CCTAGTCGCGGCCGACATGGGTCCGGTTCCGGGCACTCTTCCAGCTACGG CCAACATGGGTCTGGCTCCGGTTGGTCTTCCAGCAGTGGCCGACATGGGT CTGGCTCAGGTCAGTCTTCTGGATTTGGTCACCATGAGTCTAGCTCATGG CAGTCCTCTGGTTACACTCAGCATGGATCTGGCTCAGGTCACTCCTCCAG CTACGAACAACACGGCTCTAGGTCAGGACAGTCATCTAGGGGTGAACAAC ACGGATCTAGCTCAGGTTCATCTTCCAGCTATGGTCAGCATGGGTCTGGC TCCCGTCAGTCTTTGGGCCACGGCCAACATGGGTCTGGATCTGGCCAGTC TCCTAGCCCTAGCCGTGGCCGACATGGGTCTGGTTCTGGGCAGTCTTCCA GCTACGGCCCATATGGGTCTGGCTCAGGGTGGTCTTCCAGCCGTGGCCCA TATGAGTCTGGCTCCGGTCACTCTTCTGGCTTAGGTCACCGAGAGTCTCG CTCAGGACAGTCCTCTGGCTACGGTCAACATGGATCTAGCTCAGGTCATT CCTCTACCCATGGGCAACATGGTTCTGCATCAGGACAGTCATCGAGCTGT GGCCAACATGGAGCTAGCTCAGGTCAGTCTTCCAGCCACGGTCAGCATGG CTCTGGCTCAAGTCAGTCTTCT	p.Ser others(723): Show p.Ser2523_Gly2524insSerTyrGlyGlnGlnGlySerGlySerGly GlnSerProSerArgGlyArgHisGlySerGlySerGlyHisSerSerSe rTyrGlyGlnHisGlySerGlySerGlyTrpSerSerSerSerGlyArgH isGlySerGlySerGlyGlnSerSerGlyPheGlyHisHisGluSerSer SerTrpGlnSerSerGlyTyrThrGlnHisGlySerGlySerGlyHisSe rSerSerTyrGluGlnHisGlySerArgSerGlyGlnSerSerArgGlyG luGlnHisGlySerSerSerGlySerSerSerSerTyrGlyGlnHisGly SerGlySerArgGlnSerLeuGlyHisGlyGlnHisGlySerGlySerGl yGlnSerProSerProSerArgGlyArgHisGlySerGlySerGlyGlnS erSerSerTyrGlyProTyrGlySerGlySerGlyTrpSerSerSerArg GlyProTyrGluSerGlySerGlyHisSerSerGlyLeuGlyHisArgGl uSerArgSerGlyGlnSerSerGlyTyrGlyGlnHisGlySerSerSerG lyHisSerSerThrHisGlyGlnHisGlySerAlaSerGlyGlnSerSer SerCysGlyGlnHisGlyAlaSerSerGlyGlnSerSerSerHisGlyGl nHisGlySerGlySerSerGlnSerSer	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	7645/9629	7569/8553	2523/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152215469	C C	CAGAAGAC others(701): Show CAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGA CCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGTAGA ACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTTGAC CGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAGCCAGAA GAGTGACCGGAGCCAGACTCATATGGGCCACAGCTGGAAGACCACCCTGA GCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCAGAACCAGACCCAT GTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGG CCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCTGGA AGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTAGATGACTGTCCTG ACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCA TGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCATGGTGACCAAA TCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACC AACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCG GACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTG GCCATAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp2 HG00735.hp1 others(38): Show HG00099.hp1 HG00280.hp2 HG00735.hp1 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG02004.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp2 NA18747.hp1 NA18969.hp2 NA18970.hp2 NA18979.hp2 NA18993.hp1 NA19030.hp1 NA19055.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0007 a0001c0025 others(7): Show a0001c0003 a0001c0007 a0001c0025 a0001c0141 a0001c0144 a0001c0146 a0001c0147 a0001c0148 a0001c0150 a0003c0008	a0001c0003t0001 a0001c0007t0001 a0001c0025t0001 others(7): Show a0001c0003t0001 a0001c0007t0001 a0001c0025t0001 a0001c0141t0001 a0001c0144t0001 a0001c0146t0001 a0001c0147t0001 a0001c0148t0001 a0001c0150t0001 a0003c0008t0001	a0001c0003t0001g0003 a0001c0007t0001g0005 a0001c0025t0001g0019 others(7): Show a0001c0003t0001g0003 a0001c0007t0001g0005 a0001c0025t0001g0019 a0001c0141t0001g0056 a0001c0144t0001g0059 a0001c0146t0001g0061 a0001c0147t0001g0062 a0001c0148t0001g0063 a0001c0150t0001g0065 a0003c0008t0001g0008	41	411	0.0998	708	c.615 others(717): Show c.6159_6160insAGCTATGGCCAACAGGGCTCTGGATCTGGCCAGTCT CCTAGTCGCGGCCGACATGGGTCCGGTTCCGGGCACTCTTCCAGCTACGG CCAACATGGGTCTGGCTCCGGTTGGTCTTCCAGCAGTGGCCGACATGGGT CTGGCTCAGGTCAGTCTTCTGGATTTGGTCACCATGAGTCTAGCTCATGG CAGTCCTCTGGTTACACTCAGCATGGATCTGGCTCAGGTCACTCCTCCAG CTACGAACAACACGGCTCTAGGTCAGGACAGTCATCTAGGGGTGAACAAC ACGGATCTAGCTCAGGTTCATCTTCCAGCTATGGTCAGCATGGGTCTGGC TCCCGTCAGTCTTTGGGCCACGGCCAACATGGGTCTGGATCTGGCCAGTC TCCTAGCCCTAGCCGTGGCCGACATGGGTCTGGTTCTGGGCAGTCTTCCA GCTACGGCCCATATGGGTCTGGCTCAGGGTGGTCTTCCAGCTGTGGCCCA TATGAGTCTGGCTCCGGTCACTCTTCTGGCTTAGGTCACCGAGAGTCTCG CTCAGGACAGTCCTCTGGCTACGGTCAACATGGATCTAGCTCAGGTCATT CCTCTACCCATGGGCAACATGGTTCTACATCAGGACAGTCATCGAGCTGT GGCCAACATGGAGCTAGCTCAGGTCAGTCTTCCAGCCACGGTCAGCATGG CTCTGGCTCAAGTCAGTCTTCT	p.Ser others(723): Show p.Ser2053_Gly2054insSerTyrGlyGlnGlnGlySerGlySerGly GlnSerProSerArgGlyArgHisGlySerGlySerGlyHisSerSerSe rTyrGlyGlnHisGlySerGlySerGlyTrpSerSerSerSerGlyArgH isGlySerGlySerGlyGlnSerSerGlyPheGlyHisHisGluSerSer SerTrpGlnSerSerGlyTyrThrGlnHisGlySerGlySerGlyHisSe rSerSerTyrGluGlnHisGlySerArgSerGlyGlnSerSerArgGlyG luGlnHisGlySerSerSerGlySerSerSerSerTyrGlyGlnHisGly SerGlySerArgGlnSerLeuGlyHisGlyGlnHisGlySerGlySerGl yGlnSerProSerProSerArgGlyArgHisGlySerGlySerGlyGlnS erSerSerTyrGlyProTyrGlySerGlySerGlyTrpSerSerSerCys GlyProTyrGluSerGlySerGlyHisSerSerGlyLeuGlyHisArgGl uSerArgSerGlyGlnSerSerGlyTyrGlyGlnHisGlySerSerSerG lyHisSerSerThrHisGlyGlnHisGlySerThrSerGlyGlnSerSer SerCysGlyGlnHisGlyAlaSerSerGlyGlnSerSerSerHisGlyGl nHisGlySerGlySerSerGlnSerSer	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6235/9629	6159/8553	2053/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152215469	C C	CAGAAGAC others(701): Show CAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGA CCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGTAGA ACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTTGAC CGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAGCCAGAA GAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCACCCTGA GCCAGACCCATATGGGCTGTAGCTGGAAGACTGCCCAGAACCAGACCCAT GTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGG CCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCTGGA AGATGAACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTG ACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCA TGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCGTGGTGACCAAA TCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACC AACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCG GACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTG GCCATAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0107 a0001c0107	a0001c0107t0001 a0001c0107t0001	a0001c0107t0001g0160 a0001c0107t0001g0160	1	371	0.0027	708	c.615 others(717): Show c.6159_6160insAGCTATGGCCAACAGGGCTCTGGATCTGGCCAGTCT CCTAGTCGCGGCCGACATGGGTCCGGTTCCGGGCACTCTTCCAGCTACGG CCAACATGGGTCTGGCTCCGGTTGGTCTTCCAGCAGTGGCCGACATGGGT CTGGCTCAGGTCAGTCTTCTGGATTTGGTCACCACGAGTCTAGCTCATGG CAGTCCTCTGGTTACACTCAGCATGGATCTGGCTCAGGTCACTCCTCCAG CTACGAACAACACGGCTCTAGGTCAGGACAGTCATCTAGGGGTGAACGAC ACGGATCTAGCTCAGGTTCATCTTCCAGCTATGGTCAGCATGGGTCTGGC TCCCGTCAGTCTTTGGGCCACGGCCAACATGGGTCTGGATCTGGCCAGTC TCCTAGCCCTAGCCGTGGCCGACATGGGTCTGGTTCTGGGCAGTCTTCCA GCTACAGCCCATATGGGTCTGGCTCAGGGTGGTCTTCCAGCCGTGGCCCA TATGAGTCTGGCTCCGGTCACTCTTCTGGCTTAGGTCACCGAGAGTCTCG CTCAGGACAGTCCTCTGGCTACGGTCAACATGGATCTAGCTCAGGTCATT CCTCTACCCATGGGCAACATGGTTCTACATCAGGACAGTCATCGAGCTGT GGCCAACATGGAGCTAGCTCAGGTCAGTCTTCCAGCCACGGTCAGCATGG CTCTGGCTCAAGTCAGTCTTCT	p.Ser others(723): Show p.Ser2053_Gly2054insSerTyrGlyGlnGlnGlySerGlySerGly GlnSerProSerArgGlyArgHisGlySerGlySerGlyHisSerSerSe rTyrGlyGlnHisGlySerGlySerGlyTrpSerSerSerSerGlyArgH isGlySerGlySerGlyGlnSerSerGlyPheGlyHisHisGluSerSer SerTrpGlnSerSerGlyTyrThrGlnHisGlySerGlySerGlyHisSe rSerSerTyrGluGlnHisGlySerArgSerGlyGlnSerSerArgGlyG luArgHisGlySerSerSerGlySerSerSerSerTyrGlyGlnHisGly SerGlySerArgGlnSerLeuGlyHisGlyGlnHisGlySerGlySerGl yGlnSerProSerProSerArgGlyArgHisGlySerGlySerGlyGlnS erSerSerTyrSerProTyrGlySerGlySerGlyTrpSerSerSerArg GlyProTyrGluSerGlySerGlyHisSerSerGlyLeuGlyHisArgGl uSerArgSerGlyGlnSerSerGlyTyrGlyGlnHisGlySerSerSerG lyHisSerSerThrHisGlyGlnHisGlySerThrSerGlyGlnSerSer SerCysGlyGlnHisGlyAlaSerSerGlyGlnSerSerSerHisGlyGl nHisGlySerGlySerSerGlnSerSer	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6235/9629	6159/8553	2053/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152215633	T T	TGTCCTGA others(701): Show TGTCCTGAGCGAGACTCTCGGTGACCTAAGCCAGAAGAGTGACCGGAGCC AGACTCATATGGGCCATGGCTGGAAGACCACCCTGAGCCAGACCCATATG GGCTGTAGCTGGAAGACTGCCCAGAACCAGACCCATGTCGGCCACGGCTA GGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGGCCGTGGCCCAAAGA CTGACGGGAGCCAGACCCATGCTGACCATAGCTGGAAGATGAACCTGAGC TAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGACCTAGAGCCGTGT TGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCATGCTGAGTGTAACC AGAGGACTGCCATGAGCTAGACTCGTGGTGACCAAATCCAGAAGACTGAC CTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACCAACCGGAGCCAGAC CCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACAGGACCCATGTCGGCC GCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTGGCCATAGCTAGAAG ACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGACCTGAG CTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGCAGAACCATG TTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTTGACCGTAGC CAGAGGACA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0071 a0001c0066t0001g0071	1	370	0.0027	708	c.599 others(717): Show c.5995_5996insTGTCCTCTGGCTACGGTCAACATGGATCTAGCTCAG GTCATTCCTCTACCCATGGGCAACATGGTTCTGCATCAGGACAGTCATCG AGCTGTGGCCAACATGGAGCTAGCTCAGGTCAGTCTTCCAGCCACGGTCA GCATGGCTCTGGCTCAAGTCAGTCTTCTAGCTATGGCCAACAGGGCTCTG GATCTGGCCAGTCTCCTAGTCGCGGCCGACATGGGTCCTGTTCCGGGCAC TCTTCCAGCTACGGCCAACATGGGTCTGGCTCCGGTTGGTCTTCCAGCAG TGGCCGACATGGGTCTGGCTCAGGTCAGTCTTCTGGATTTGGTCACCACG AGTCTAGCTCATGGCAGTCCTCTGGTTACACTCAGCATGGATCTGGCTCA GGTCACTCCTCCAGCTACGAACAACACGGCTCTAGGTCAGGACAGTCATC TAGGGGTGAACGACACGGATCTAGCTCAGGTTCATCTTCCAGCTATGGTC AGCATGGGTCTGGCTCCCGTCAGTCTTTGGGCCACGGCCAACATGGGTCT GGATCTGGCCAGTCTCCTAGCCCTAGCCGTGGCCGACATGGGTCTGGTTC TGGGCAGTCTTCCAGCTACAGCCCATATGGGTCTGGCTCAGGGTGGTCTT CCAGCCATGGCCCATATGAGTCTGGCTCCGGTCACTCTTCTGGCTTAGGT CACCGAGAGTCTCGCTCAGGAC	p.Gly others(723): Show p.Gly1998_Gln1999insLeuSerSerGlyTyrGlyGlnHisGlySer SerSerGlyHisSerSerThrHisGlyGlnHisGlySerAlaSerGlyGl nSerSerSerCysGlyGlnHisGlyAlaSerSerGlyGlnSerSerSerH isGlyGlnHisGlySerGlySerSerGlnSerSerSerTyrGlyGlnGln GlySerGlySerGlyGlnSerProSerArgGlyArgHisGlySerCysSe rGlyHisSerSerSerTyrGlyGlnHisGlySerGlySerGlyTrpSerS erSerSerGlyArgHisGlySerGlySerGlyGlnSerSerGlyPheGly HisHisGluSerSerSerTrpGlnSerSerGlyTyrThrGlnHisGlySe rGlySerGlyHisSerSerSerTyrGluGlnHisGlySerArgSerGlyG lnSerSerArgGlyGluArgHisGlySerSerSerGlySerSerSerSer TyrGlyGlnHisGlySerGlySerArgGlnSerLeuGlyHisGlyGlnHi sGlySerGlySerGlyGlnSerProSerProSerArgGlyArgHisGlyS erGlySerGlyGlnSerSerSerTyrSerProTyrGlySerGlySerGly TrpSerSerSerHisGlyProTyrGluSerGlySerGlyHisSerSerGl yLeuGlyHisArgGluSerArgSerGly	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6071/9629	5995/8553	1999/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152215700	G G	GGCTGGAA others(701): Show GGCTGGAAGACCACCCTGAGCCAGACCCATATGGGCTGTAGCTGGAAGAC TGCCCAGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCC AGATCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACC CATGCTGACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTCGTTCA CCCCTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGA GTGACCTGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCATGAGC TAGACTCGTGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCCATGT CGGCCACTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGTAGCT GGAAGAGTGCCCGGAACAGGACCCATGTCGGCCGCGACTAGGAGACTGGC CAGATCCAGAGCCCTGTTGGCCATAGCTAGAAGACTGACTTGAGCCAGAG CCATGCTGACCGTGGCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCC ACAGCTCGATGACTGTCCTGATGCAGAACCATGTTGCCCATGGGTAGAGG AATGACCTGAGCTAGATCCATGTTGACCGTAGCCAGAGGACAGTCCTGAG CGAGACTCTCGGTGACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATA TGGGCCACA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp2 HG00438.hp1 HG00621.hp2 others(57): Show HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00738.hp1 HG01167.hp2 HG01175.hp1 HG01261.hp1 HG01516.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG03209.hp2 HG03688.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0010 a0001c0013 a0001c0020 others(40): Show a0001c0010 a0001c0013 a0001c0020 a0001c0021 a0001c0030 a0001c0032 a0001c0033 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0067 a0001c0068 a0001c0069 a0001c0072 a0001c0073 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0093 a0001c0095 a0001c0097 a0001c0098 a0001c0099 a0001c0100 a0001c0101 a0001c0102 a0001c0103 a0009c0046	a0001c0010t0001 a0001c0013t0001 a0001c0020t0001 others(40): Show a0001c0010t0001 a0001c0013t0001 a0001c0020t0001 a0001c0021t0001 a0001c0030t0001 a0001c0032t0001 a0001c0033t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0072t0001 a0001c0073t0001 a0001c0075t0001 a0001c0076t0001 a0001c0077t0001 a0001c0078t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0001 a0001c0083t0001 a0001c0084t0017 a0001c0085t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0016 a0001c0089t0001 a0001c0090t0001 a0001c0091t0014 a0001c0093t0001 a0001c0095t0001 a0001c0097t0001 a0001c0098t0001 a0001c0099t0001 a0001c0100t0001 a0001c0101t0001 a0001c0102t0001 a0001c0103t0001 a0009c0046t0001	a0001c0010t0001g0007 a0001c0013t0001g0011 a0001c0020t0001g0020 others(40): Show a0001c0010t0001g0007 a0001c0013t0001g0011 a0001c0020t0001g0020 a0001c0021t0001g0021 a0001c0030t0001g0035 a0001c0032t0001g0037 a0001c0033t0001g0038 a0001c0062t0001g0067 a0001c0063t0001g0068 a0001c0064t0001g0069 a0001c0065t0001g0070 a0001c0067t0001g0072 a0001c0068t0001g0073 a0001c0069t0001g0052 a0001c0072t0001g0076 a0001c0073t0001g0077 a0001c0075t0001g0079 a0001c0076t0001g0080 a0001c0077t0001g0081 a0001c0078t0001g0082 a0001c0079t0001g0083 a0001c0080t0001g0084 a0001c0081t0001g0085 a0001c0082t0001g0086 a0001c0083t0001g0087 a0001c0084t0017g0088 a0001c0085t0001g0089 a0001c0086t0001g0090 a0001c0087t0001g0091 a0001c0088t0016g0092 a0001c0089t0001g0093 a0001c0090t0001g0094 a0001c0091t0014g0095 a0001c0093t0001g0097 a0001c0095t0001g0099 a0001c0097t0001g0101 a0001c0098t0001g0102 a0001c0099t0001g0103 a0001c0100t0001g0104 a0001c0101t0001g0105 a0001c0102t0001g0106 a0001c0103t0001g0107 a0009c0046t0001g0053	60	352	0.1705	708	c.592 others(717): Show c.5928_5929insTGTGGCCCATATGAGTCTGGCTCCGGTCACTCTTCT GGCTTAGGTCACCGAGAGTCTCGCTCAGGACTGTCCTCTGGCTACGGTCA ACATGGATCTAGCTCAGGTCATTCCTCTACCCATGGGCAACATGGTTCTG CATCAGGACAGTCATCGAGCTGTGGCCAACATGGAGCTAGCTCAGGTCAG TCTTCCAGCCACGGTCAGCATGGCTCTGGCTCAAGTCAGTCTTCTAGCTA TGGCCAACAGGGCTCTGGATCTGGCCAGTCTCCTAGTCGCGGCCGACATG GGTCCTGTTCCGGGCACTCTTCCAGCTACGGCCAACATGGGTCTGGCTCC GGTTGGTCTTCCAGCAGTGGCCGACATGGGTCTGGCTCAGGTCAGTCTTC TGGATTTGGTCACCACGAGTCTAGCTCATGGCAGTCCTCTGGTTACACTC AGCATGGATCTGGCTCAGGTCACTCCTCCAGCTACGAACAACACGGCTCT AGGTCAGGACAGTCATCTAGGGGTGAACGACACGGATCTAGCTCAGGTTC ATCTTCCAGCTATGGTCAGCATGGGTCTGGCTCCCGTCAGTCTTTGGGCC ACGGCCAACATGGGTCTGGATCTGGCCAGTCTCCTAGCCCTAGCCGTGGC CGACATGGGTCTGGTTCTGGGCAGTCTTCCAGCTACAGCCCATATGGGTC TGGCTCAGGGTGGTCTTCCAGC	p.Ser others(723): Show p.Ser1976_Arg1977insCysGlyProTyrGluSerGlySerGlyHis SerSerGlyLeuGlyHisArgGluSerArgSerGlyLeuSerSerGlyTy rGlyGlnHisGlySerSerSerGlyHisSerSerThrHisGlyGlnHisG lySerAlaSerGlyGlnSerSerSerCysGlyGlnHisGlyAlaSerSer GlyGlnSerSerSerHisGlyGlnHisGlySerGlySerSerGlnSerSe rSerTyrGlyGlnGlnGlySerGlySerGlyGlnSerProSerArgGlyA rgHisGlySerCysSerGlyHisSerSerSerTyrGlyGlnHisGlySer GlySerGlyTrpSerSerSerSerGlyArgHisGlySerGlySerGlyGl nSerSerGlyPheGlyHisHisGluSerSerSerTrpGlnSerSerGlyT yrThrGlnHisGlySerGlySerGlyHisSerSerSerTyrGluGlnHis GlySerArgSerGlyGlnSerSerArgGlyGluArgHisGlySerSerSe rGlySerSerSerSerTyrGlyGlnHisGlySerGlySerArgGlnSerL euGlyHisGlyGlnHisGlySerGlySerGlyGlnSerProSerProSer ArgGlyArgHisGlySerGlySerGlyGlnSerSerSerTyrSerProTy rGlySerGlySerGlyTrpSerSerSer	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6004/9629	5928/8553	1976/2850			chr1	TogoVar

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