Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPP1R3B_chr8_9131255_9155658	9155444	T T	TCCAGAAA others(310): Show TCCAGAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0035 a0003c0003t0035	a0003c0003t0035g0136 a0003c0003t0035g0136	1	444	0.0023	317	c.-49 others(328): Show c.-4900_-4899insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAGTTTCTGG	PPP1R3B	ENSG00000173281.5	transcript	ENST00000310455.4	protein_coding		4787		chr8	TogoVar
PPP1R7_chr2_241145467_241188652	241180716	T T	TAAGAAGG others(310): Show TAAGAAGGTACGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTAAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02818.hp1 others(4): Show HG01243.hp2 HG02630.hp1 HG02818.hp1 HG03041.hp1 HG03209.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0037 a0001c0001t0006g0041 others(1): Show a0001c0001t0006g0009 a0001c0001t0006g0037 a0001c0001t0006g0041 a0001c0001t0006g0101	7	396	0.0177	317	c.907 others(334): Show c.907-1917_907-1916insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAA AAAATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAG GCTAAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGTACGCTC	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP2CB_chr8_30780616_30817818	30786497	A A	ATGGTGAA others(310): Show ATGGTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG02717.hp2 others(2): Show HG02258.hp2 HG02647.hp2 HG02717.hp2 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0104 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0104	5	304	0.0165	317	c.858 others(332): Show c.858-191_858-190insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CAAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAATTTTCACCA	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding	6/6			chr8	TogoVar
PREP_chr6_105268218_105408082	105399917	T T	TAAAAAAT others(310): Show TAAAAAATGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	212	0.0047	317	c.46- others(332): Show c.46-1991_46-1990insTGTTTTGTTTTGTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTACATTTTTT	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	1/14			chr6	TogoVar
PRKAG2_chr7_151551127_151882115	151855030	T T	TGCTCCAC others(310): Show TGCTCCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACAC CACCATCCACACACACCACGCTCCACACACACCATCCTCCACACACCACC CTCCACACACACCACCCTCCACACACACCATGCTCCACACACCACCCTCC ACACACCACCCTCCACACACACCATCCACACACCACCCTCCACACACACC ATGCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACACCAT GCTCCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACC ACCATCCACACACACCAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	252	0.0040	317	c.114 others(336): Show c.114+21476_114+21477insGTGGTGTGTGTGGATGGTGGTGTGTG GAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTG TGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTG TGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTG GTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGT GTGGAGGATGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGG AGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCB_chr16_23830983_24225611	23853966	T T	TCAAGGCA others(310): Show TCAAGGCACTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0083 a0001c0001t0029g0083	1	148	0.0068	317	c.205 others(336): Show c.205+16573_205+16574insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGCACTTCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRPH2_chr6_42691598_42727597	42702568	T T	TAAGAAAT others(310): Show TAAGAAATATCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG04184.hp1 others(1): Show HG00438.hp2 HG00597.hp1 HG04184.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0263 a0001c0002t0001g0280 others(1): Show a0001c0002t0001g0250 a0001c0002t0001g0263 a0001c0002t0001g0280 a0001c0002t0001g0340	4	392	0.0102	317	c.828 others(334): Show c.828+1796_828+1797insTCTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGAGATATTTCTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	2/2			chr6	TogoVar
PSKH2_chr8_86042109_86074668	86067391	C C	CAAAAGAA others(310): Show CAAAAGAATCATTCACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGC AGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0152 a0002c0002t0002g0152	1	420	0.0024	317	c.185 others(334): Show c.185+2046_185+2047insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCAC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCAGTGAATGATTCTTTT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	1/2			chr8	TogoVar
PSTK_chr10_122975401_122995390	122976474	T T	TAAAGAAG others(310): Show TAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	416	0.0024	317	c.-40 others(328): Show c.-4006_-4005insAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding		3926		chr10	TogoVar
PTPRD_chr9_8309246_10618002	10461248	T T	TAAGAATG others(310): Show TAAGAATGGGGGAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0030 a0001c0002t0011g0030	1	34	0.0294	317	c.-59 others(340): Show c.-599-120232_-599-120231insTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTCCCCCATTCTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTX4_chr16_1480886_1493944	1484887	A A	AAAAGAAA others(310): Show AAAAGAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTC CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0023 a0023	a0023c0025 a0023c0025	a0023c0025t0001 a0023c0025t0001	a0023c0025t0001g0035 a0023c0025t0001g0035	1	442	0.0023	317	c.10 others(328): Show c.1051_*1052insCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGGAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCCTTTTTTCTTT	PTX4	ENSG00000251692.8	transcript	ENST00000447419.7	protein_coding		998		chr16	TogoVar
PTX4_chr16_1480886_1493944	1484887	A A	AAAAGAAA others(310): Show AAAAGAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATTGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTC CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	442	0.0023	317	c.10 others(328): Show c.1051_*1052insCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGGAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCAATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCCTTTTTTCTTT	PTX4	ENSG00000251692.8	transcript	ENST00000447419.7	protein_coding		998		chr16	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(310): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTAAT AGATATATATATTATTATATATATCTAATAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATATT ATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGATA TATATATTATTATATATATCTAATAGATATATATATTATTATATATATCT AATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	344	0.0029	317	c.38- others(332): Show c.38-2384_38-2383insATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTATTAGATATATATAATAATA TATATATCTATTAGATATATATAATAATATATATATCTATTAGATATATA TAATAATATATATATCTAATAGATATATATAATAATATATATATCTAATA GATATATATAATAATATATATATCTAATAGATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905910	T T	TATATATA others(310): Show TATATATATTATTATATATATCTATTAGATATATATATTATTATATATAT CTAATAGATATATATATTATTATATATATCTAATAGATATATATATTATT ATATATATCTAATAGATATATATATTATTATATATATCTAATAGATATAT ATATTATTATATATATCTAATAGATATATATATTATTATATATATCTAAT AGATATATATATTATTATATATATCTAATAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATATT ATTATATATATCTAATAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	344	0.0029	317	c.38- others(332): Show c.38-2431_38-2430insCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTATTAGATATATATAATAATA TATATATCTATTAGATATATATAATAATATATATATCTATTAGATATATA TAATAATATATATATCTATTAGATATATATAATAATATATATATCTATTA GATATATATAATAATATATATATCTATTAGATATATATAATAATATATAT ATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAATA ATATATATATCTAATAGATATATATAATAATATATAT	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAB11FIP3_chr16_420649_528011	434430	A A	ATACTTTA others(310): Show ATACTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0058 a0001c0006t0058	a0001c0006t0058g0111 a0001c0006t0058g0111	1	295	0.0034	317	c.714 others(334): Show c.714+7724_714+7725insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTACTTTATTTTTTT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468218	G G	GCAGGGGC others(310): Show GCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG AGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGAGGTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02257.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0028 a0001c0001t0013g0035 a0001c0001t0013g0028 a0001c0001t0013g0035	2	295	0.0068	317	c.809 others(334): Show c.809-3076_809-3075insAGGGGCGTCAGGGAGGAGATGCTGGGAC GTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174491101	T T	TCCTGTTT others(310): Show TCCTGTTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0220 a0001c0001t0007g0220	1	272	0.0037	317	c.171 others(338): Show c.1710+96970_1710+96971insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCTGTTTACTTTTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD51B_chr14_67814779_68483093	67837273	T T	TAAACAAG others(310): Show TAAACAAGGTTTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	84	0.0119	317	c.315 others(334): Show c.315+2090_315+2091insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAACAAGGTTTAT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RALGAPA2_chr20_20384530_20717644	20458856	C C	CTATATAT others(310): Show CTATATATATATAGACCTATATATATATAGACCTATATATATATAGACCT ATATATATATAGACCTATATATATAGGTCTATATATATATAGGTCTATTA TAGACCTATATATATAGACCTATATATATATAGACCTATATATATATAGA CCTATATATATATAGACCTATATATATATAGACCTATATATATATATAGA CCTATATATATATATAGACCTATATATATATAGACCTATATATATAGACC TATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTA TATATATATATAGACCTA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0093 a0002c0002t0009g0093	1	122	0.0082	317	c.549 others(338): Show c.5495+13972_5495+13973insTAGGTCTATATATATATATAGGTC TATATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTA TATATATAGGTCTATATATATATAGGTCTATATATATATATAGGTCTATA TATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATA TATATATAGGTCTATATATATATAGGTCTATATATATAGGTCTATAATAG ACCTATATATATATAGACCTATATATATAGGTCTATATATATATAGGTCT ATATATATATAGGTCTATATATATATAGGTCTATATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RASA3_chr13_113972783_114137623	114044482	G G	GCACCCCC others(310): Show GCACCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACT CGCTGAGCTCCCCCCCACGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCA CTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGC CTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCC GCCTCACTCGCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCC GCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCCCCCCGCCCCGCCTCACT CGCTGAGCCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	67	0.0149	317	c.278 others(334): Show c.278-3389_278-3388insGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGCT CAGCGAGTGAGGCGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGA GCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGG GGGGGAGCTCAGCGAGTGAGGCGTGGGGGGGAGCTCAGCGAGTGAGGCGG GGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119595	T T	TCTCTCCA others(310): Show TCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCG TCGATCAGGGACCCCCCTCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCC CCCTTCTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCC AGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGG CCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTC TCCAGCCAGACGTCGATCAGGGCCCCCCCTCCCCTCTCCAGCCTGGCGTC GATCAGGGCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18973.hp2 NA19079.hp1 HG03490.hp1 NA18973.hp2 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0002t0002 a0003c0008t0002 a0001c0001t0001 a0001c0002t0002 a0003c0008t0002	a0001c0001t0001g0005 a0001c0002t0002g0004 a0003c0008t0002g0006 a0001c0001t0001g0005 a0001c0002t0002g0004 a0003c0008t0002g0006	3	67	0.0448	317	c.55+ others(334): Show c.55+12839_55+12840insGGGAGGGGGGCCCTGATCGACGCCAGGC TGGAGAGGGGAGGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGG GGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGA CGTCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAG GGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAAGGGGGGGACTTGA TCGACGCCTGGCTGGAGAGAGGAGGGGGGTCCCTGATCGACGCCTGGCTG GAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119595	T T	TCTCTCCA others(310): Show TCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCG TCGATCAGGGCCCCCCCTCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCC CCCTTCTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCC AGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGG CCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTC TCCAGCCAGACCTCGATCAGGGCCCCCCCTCCCCTCTCCAGCCTGGCGTC GATCAGGGCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 NA18522.hp1 HG02257.hp1 HG02723.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0009 a0001c0001t0001 a0002c0004t0009	a0001c0001t0001g0008 a0001c0001t0001g0009 a0002c0004t0009g0010 a0001c0001t0001g0008 a0001c0001t0001g0009 a0002c0004t0009g0010	3	67	0.0448	317	c.55+ others(334): Show c.55+12839_55+12840insGGGAGGGGGGCCCTGATCGACGCCAGGC TGGAGAGGGGAGGGGGGGCCCTGATCGAGGTCTGGCTGGAGAGAGGGAGG GGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGA CGTCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAG GGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAAGGGGGGGACTTGA TCGACGCCTGGCTGGAGAGAGGAGGGGGGGCCCTGATCGACGCCTGGCTG GAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119595	T T	TCTCTCCA others(310): Show TCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCG TCGATCAGGGCCCCCCCTCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCC CCCTTCTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCC AGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGG CCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTC TCCAGCCAGACGTCGATCAGGGCCCCCCCTCCCCTCTCCAGCCTGGCGTC GATCAGGGCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01981.hp1 others(8): Show HG00639.hp1 HG00639.hp2 HG01981.hp1 HG02257.hp2 HG02300.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 NA18945.hp2 NA18971.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0002c0004t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0004g0066 a0001c0001t0007g0034 a0001c0002t0002g0036 a0002c0004t0004g0001	11	67	0.1642	317	c.55+ others(334): Show c.55+12839_55+12840insGGGAGGGGGGCCCTGATCGACGCCAGGC TGGAGAGGGGAGGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAGGGAGG GGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGA CGTCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAG GGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAAGGGGGGGACTTGA TCGACGCCTGGCTGGAGAGAGGAGGGGGGGCCCTGATCGACGCCTGGCTG GAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119595	T T	TCTCTCCA others(310): Show TCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCG TCGATCAGGGCCCCCCCTCCTCTCTCCAGCCAGGCGTCGATCAAGTCCCC CCCTTCTCTCCAGCCAGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCC AGACGTCGATCAGGGCCCCCCTCCCCTCTCCAGCCAGACGTCGATCAGGG CCCCCCTCCCCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTC TCCAGTCAGACGTCGATCAGGGCCCCCCCTCCCCTCTCCAGCCTGGCGTC GATCAGGGCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	67	0.0149	317	c.55+ others(334): Show c.55+12839_55+12840insGGGAGGGGGGCCCTGATCGACGCCAGGC TGGAGAGGGGAGGGGGGGCCCTGATCGACGTCTGACTGGAGAGAGGGAGG GGGGGCCCTGATCGACGCCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGA CGTCTGGCTGGAGAGGGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAG GGGAGGGGGGCCCTGATCGACGTCTGGCTGGAGAGAAGGGGGGGACTTGA TCGACGCCTGGCTGGAGAGAGGAGGGGGGGCCCTGATCGACGCCTGGCTG GAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RB1_chr13_48298751_48486890	48459912	T T	TTCTTTTC others(310): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0278 a0001c0001t0008g0278	1	306	0.0033	317	c.210 others(332): Show c.2106+79_2106+80insTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26			chr13	TogoVar
RCN3_chr19_49523003_49548633	49545495	A A	ACTAATTA others(310): Show ACTAATTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG03195.hp1 HG01070.hp1 HG03195.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0082 a0003c0006t0002g0084 a0003c0006t0002g0082 a0003c0006t0002g0084	2	380	0.0053	317	c.22 others(328): Show c.2282_*2283insCTAATTAATTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding		1863		chr19	TogoVar
RCN3_chr19_49523003_49548633	49545495	A A	ACTAATTA others(310): Show ACTAATTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03130.hp1 HG03225.hp1 HG02258.hp1 HG03130.hp1 HG03225.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0047 a0003c0007t0002g0076 a0003c0007t0002g0047 a0003c0007t0002g0076	3	380	0.0079	317	c.22 others(328): Show c.2282_*2283insCTAATTAATTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding		1863		chr19	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(310): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG01175.hp2 others(6): Show HG00140.hp2 HG00597.hp2 HG01175.hp2 HG02486.hp2 NA19000.hp2 NA19009.hp1 NA19070.hp2 NA19074.hp1 NA19090.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0007 a0009c0021 a0001c0001 a0001c0007 a0009c0021	a0001c0001t0001 a0001c0007t0004 a0009c0021t0003 a0001c0001t0001 a0001c0007t0004 a0009c0021t0003	a0001c0001t0001g0004 a0001c0001t0001g0060 a0001c0001t0001g0063 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0007t0004g0047 a0009c0021t0003g0135	9	204	0.0441	317	c.128 others(338): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8441930	T T	TCAATACA others(310): Show TCAATACACACACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0003 a0008c0017t0003	a0008c0017t0003g0101 a0008c0017t0003g0101	1	204	0.0049	317	c.120 others(338): Show c.1204-19124_1204-19123insGCCGGGCGCGGTGGCTCACGCCTG TAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTGTGTGTATTG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	11/22			chr1	TogoVar
RFX4_chr12_106578004_106767803	106728297	T T	TCCTCATG others(310): Show TCCTCATGTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG01109.hp2 others(35): Show HG00621.hp1 HG00639.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01256.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG02135.hp2 HG02622.hp2 HG02683.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp2 HG03239.hp2 HG03704.hp1 HG03927.hp1 HG06807.hp2 NA18942.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18992.hp2 NA19002.hp1 NA19011.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19070.hp2 NA19085.hp1 NA19088.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0005 a0001c0002 a0001c0003 a0004c0005	a0001c0002t0001 a0001c0003t0001 a0004c0005t0001 a0001c0002t0001 a0001c0003t0001 a0004c0005t0001	a0001c0002t0001g0030 a0001c0002t0001g0058 a0001c0002t0001g0137 others(35): Show a0001c0002t0001g0030 a0001c0002t0001g0058 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0216 a0001c0002t0001g0227 a0001c0002t0001g0231 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0259 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0003t0001g0059 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0142 a0001c0003t0001g0144 a0001c0003t0001g0145 a0004c0005t0001g0061	38	296	0.1284	317	c.135 others(336): Show c.1352-3822_1352-3821insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCCTCATGTATT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RGS20_chr8_53846795_53964303	53849671	T T	TCTGATGA others(310): Show TCTGATGATAATTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	258	0.0039	317	c.-22 others(328): Show c.-2229_-2228insCTGATGATAATTTCTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding		2123		chr8	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(310): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATAAAATATATATATATAATATATATATATAAATATATATATA AAATATATATATATAATATATATATAAAATATATATATAAAATATATATA TATAATATATATATAAAATATATATATATAATATATATATATATAAAATA TATATAAAATATATATATAATATATATATAAAATATATATATAATATATA TATAATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0147 a0004c0005t0006g0147	1	410	0.0024	317	c.67- others(330): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATATTATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATTATATATATATATTTTATATATATATTTA TATATATATATTATATATATATATTTTATATATATATTTTATATATATAT ATTATATATATATATTTTATATATATATATTATATATATATATTTTATAT ATATATATTATATATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPOR3_chr20_50581108_50696542	50685662	T T	TAAAAATA others(310): Show TAAAAATACAGAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02056.hp1 HG02738.hp1 others(1): Show HG01123.hp2 HG02056.hp1 HG02738.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0002c0002t0001g0067	4	280	0.0143	317	c.3+5 others(330): Show c.3+5463_3+5464insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTGTCTCCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTT TAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGATTTCTGTATTTTT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RMDN3_chr15_40730887_40760254	40747672	T T	TGAAAAGG others(310): Show TGAAAAGGCCCTTTGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCG CCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	404	0.0025	317	c.525 others(334): Show c.525-2414_525-2413insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCAAAGGGCCTTTTC	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	4/12			chr15	TogoVar
RMDN3_chr15_40730887_40760254	40747672	T T	TGAAAAGG others(310): Show TGAAAAGGCCCTTTGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01168.hp1 HG01496.hp1 others(30): Show HG00673.hp2 HG01168.hp1 HG01496.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp2 HG02293.hp2 HG02630.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp2 NA18612.hp1 NA18946.hp1 NA18955.hp2 NA18960.hp2 NA18965.hp1 NA18967.hp2 NA18972.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18990.hp2 NA19001.hp1 NA19002.hp1 NA19007.hp2 NA19054.hp2 NA19072.hp2 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(24): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0002g0084 a0001c0001t0002g0093	33	404	0.0817	317	c.525 others(334): Show c.525-2414_525-2413insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCAAAGGGCCTTTTC	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	4/12			chr15	TogoVar
RNF144B_chr6_18382350_18473870	18469917	T T	TAAAAATA others(310): Show TAAAAATACTTTTGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0245 a0001c0001t0007g0245	1	386	0.0026	317	c.48 others(328): Show c.4850_*4851insAAAAATACTTTTGGGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	RNF144B	ENSG00000137393.10	transcript	ENST00000259939.4	protein_coding		1048		chr6	TogoVar
RNF213_chr17_80255852_80403794	80382721	T T	TCAGTAAT others(310): Show TCAGTAATTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATAGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0106 a0001c0004t0023g0106	1	292	0.0034	317	c.139 others(336): Show c.13979-244_13979-243insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATAGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGTAATTTTTTTC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	57/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF214_chr11_117227671_117291454	117244635	T T	TCAAACTT others(310): Show TCAAACTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGGTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	360	0.0028	317	c.819 others(330): Show c.819+66_819+67insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGGTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAAACTTTAATTTTTT	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ROBO2_chr3_77035099_77654964	77292479	C C	CTGAGGCT others(310): Show CTGAGGCTAGATCACCCCAGACATAAAGCAAAATTGACGGTTAACCGGGA AGGCTGAGGCTAGATCACCCCAGACGTAAAGTAAAATTGACGGTTAAATG GGTAAGCTGAGGCTACATCACCCCAGACATAAAGTAAAATTGATGGTTAA ACGGGTAAGCTGAGGCTAGATCACCCCAGACATGAAGTAAAATTGATAGT TAAACGGGTAGGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGAT GGTTAAAAGGGTAGGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATT GATGGTTAAACGGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0085 a0001c0002t0017g0085	1	160	0.0063	317	c.389 others(338): Show c.389-184925_389-184924insTCACCCCAGACATAAAGCAAAATT GACGGTTAACCGGGAAGGCTGAGGCTAGATCACCCCAGACGTAAAGTAAA ATTGACGGTTAAATGGGTAAGCTGAGGCTACATCACCCCAGACATAAAGT AAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACATGA AGTAAAATTGATAGTTAAACGGGTAGGCTGAGGCTAGATCACCCCAGACA TAAAGTAAAATTGATGGTTAAAAGGGTAGGCTGAGGCTAGATCACCCCAG ACATAAAGTAAAATTGATGGTTAAACGGGAAGGTGAGGCTAGA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPA3_chr7_7631518_7723607	7718904	T T	TAAAGCTT others(310): Show TAAAGCTTCCCAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02280.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0290 a0001c0001t0005g0099 a0001c0001t0005g0290	2	308	0.0065	317	c.-14 others(328): Show c.-1470_-1469insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCCGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCACTTGGGAAGCTTT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding		298		chr7	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(310): Show AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGG GGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGG AGGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	133	0.0075	317	c.351 others(336): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA5_chr14_90842861_91065641	90910531	G G	GAAAAAGT others(310): Show GAAAAAGTAAACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp1 HG02647.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0051 a0001c0001t0014 a0001c0001t0051	a0001c0001t0014g0209 a0001c0001t0051g0140 a0001c0001t0014g0209 a0001c0001t0051g0140	2	306	0.0065	317	c.807 others(334): Show c.807-4233_807-4232insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGGTTTACTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	7/16			chr14	TogoVar
RTL4_chrX_112078016_112462514	112130967	T T	TTGTATTT others(310): Show TTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp1 HG02630.hp1 HG02486.hp1 HG02630.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0020 a0002c0001t0001g0033 a0002c0001t0001g0020 a0002c0001t0001g0033	2	134	0.0149	317	c.-56 others(330): Show c.-563-3_-563-2insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGTATTTTTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTP5_chr2_241864729_241878823	241877949	T T	TGCTCCCC others(310): Show TGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCC TCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCTCCCTCTCCCG GCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCC CCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCC CACCCCATCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(68): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18965.hp1 NA18970.hp1 NA18980.hp1 NA19004.hp2 NA19010.hp2 NA19054.hp2 NA19067.hp2 NA19068.hp2 NA19080.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0013 a0014 a0015	a0001c0001 a0003c0003 a0008c0008 others(3): Show a0001c0001 a0003c0003 a0008c0008 a0013c0012 a0014c0017 a0015c0016	a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 others(9): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0025 a0003c0003t0002 a0003c0003t0003 a0003c0003t0023 a0003c0003t0039 a0008c0008t0006 a0013c0012t0013 a0014c0017t0003 a0015c0016t0003	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(17): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0008g0008 a0001c0001t0019g0008 a0001c0001t0025g0007 a0003c0003t0002g0020 a0003c0003t0003g0001 a0003c0003t0003g0010 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0032 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0023g0001 a0003c0003t0039g0001 a0008c0008t0006g0011 a0013c0012t0013g0030 a0014c0017t0003g0018 a0015c0016t0003g0001	71	365	0.1945	317	c.46 others(328): Show c.4675_*4676insGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCAACCCCATCC CTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCC TCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCTTCCCTCTCTCCTCGCT CCCCTCCCTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCC CTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCTGGCCGCCCCCCCCACCCCATCCCTCTCCTC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4127		chr2	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(310): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19060.hp2 NA19004.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0093 a0001c0001t0001g0096	2	210	0.0095	317	c.899 others(332): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAMD11_chr1_918923_949574	934792	A A	AGGGGGAG others(310): Show AGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGCGGCTGCGTTACAG GTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTG CGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGC TCCGTTACAGGTGGGCAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0275 a0001c0002t0011g0275	1	434	0.0023	317	c.843 others(332): Show c.843-976_843-975insGAGGCGGCTGCGTTACAGGTGGGCGGGGGG GCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCT GCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGG AGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTGG GCAGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54709298	C C	CAAAAAAC others(310): Show CAAAAAACAGAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG02615.hp2 HG02970.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0080 a0005c0012t0013 a0001c0001t0080 a0005c0012t0013	a0001c0001t0080g0175 a0005c0012t0013g0155 a0001c0001t0080g0175 a0005c0012t0013g0155	2	262	0.0076	317	c.715 others(334): Show c.715+6732_715+6733insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACAGAAGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SASS6_chr1_100078570_100137930	100086087	C C	CAAATTAA others(310): Show CAAATTAATACAAATGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	304	0.0033	317	c.177 others(334): Show c.1773-458_1773-457insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCTCATTTGTATTAATTT	SASS6	ENSG00000156876.10	transcript	ENST00000287482.6	protein_coding	15/16			chr1	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(310): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGC ACAATCATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCC CACCCCAGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG00733.hp2 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0019 a0003c0003t0007g0019	2	414	0.0048	317	c.678 others(332): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACA TTACAAATAATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACT CTGTCACCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCT CCAGCTCCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGTTG others(310): Show GGGGGTTGAGTGAGGGGTCGGGGGGGGTTGGGTGAGGGGGGTGGGGTGTT GGGTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGG GGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGGGGGGGTTGGGTGGGGG GTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGTTGGGGG GGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0128 a0004c0005t0006g0128	1	290	0.0035	317	c.464 others(330): Show c.464+85_464+86insTTGAGTGAGGGGTCGGGGGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGG GGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGGGGG GGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTG AGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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