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
PTP4A3_chr8_141387021_141437454	141430014	C C	CACAGCCC others(350): Show CACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGC GCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGA GCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTG AGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGT GAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGG TGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGG GTGAGCGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG01884.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	323	0.0062	357	c.405 others(372): Show c.405-909_405-908insCCCGGGTCCCCGCTGTAAGGACCCGGTGGC GGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGTACAG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPRT_chr20_42067756_43194906	42993480	A A	ACACATAT others(350): Show ACACATATATATGTGTATGTATATATATATACACATATATATGTGTGTAT ATATATATACACATATATATGTGTGTGTATATATATATACACATATATAT AGTGTGTGTATATATATACATATATTTGTGTATATATATACATATATGTG TGTGTATATATATACATATATGTGTGTGTGTATATATACATATGTGTGTG TATATATACACATATATGTGTGTGTATATATACACATATATGTGTGTGTA TATATACATATATGTGTATATATATACACATATATGTGTATATATACACA CACATATATGTGTATATATACACACACATATATGTGTATATATACACACA CATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02647.hp2 HG00741.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0022 a0001c0003t0018 a0001c0002t0022 a0001c0003t0018	a0001c0002t0022g0055 a0001c0003t0018g0046 a0001c0002t0022g0055 a0001c0003t0018g0046	2	62	0.0323	357	c.89- others(376): Show c.89-107549_89-107548insCATATATGTGTGTGTATATATACACA TATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACACATA TATGTGTATATATATACACATATATGTATATATACACACACATATATGTG TATATATACACACACATATATGTGTATATATACACACACATATGTATATA TACACACACACATATATGTATATATATACACACACATATATGTATATATA TACACAAATATATGTATATATATACACACACTATATATATGTGTATATAT ATATACACACACATATATATGTGTATATATATATACACACATATATATGT GTATATATATATACATACACATATATATGTG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PXDN_chr2_1626887_1749515	1720095	C C	CAGAGAGA others(350): Show CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGGGAGGGGAGGGATGCAGAGAGAGAGAGAGGGAGGG AGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAG GGAGGGAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGATAGAGGGAGGGAGGGATGCAGAGAG AGATAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGC AGAGAGAGAGAGATGCACAGAGAGAGGGAGGGATGCAGAGAGAGGGAGGG ATGCAGAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	322	0.0031	357	c.200 others(376): Show c.200+24160_200+24161insCTCTGCATCCCTCCCTCTCTCTGCAT CCCTCCCTCTCTCTGTGCATCTCTCTCTCTCTGCATCCCTCCCTCCCTCT CTCTCTCTCTGCATCCCTCCCTCCCTCTATCTCTCTCTGCATCCCTCCCT CCCTCTATCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATTC TTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT CCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTGCATCCCTCCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTC TCTGCATCCCTCCCTCCCTCTCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP4_chr17_31386675_31543211	31515456	A A	ATATTGCC others(350): Show ATATTGCCATCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0063 a0001c0003t0063	a0001c0003t0063g0068 a0001c0003t0063g0068	1	310	0.0032	357	c.337 others(374): Show c.337-2178_337-2177insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTATTGCCATCTATTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAI14_chr5_34651328_34837612	34717925	T T	TCCAACCC others(350): Show TCCAACCCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACCGGCG CCCGCCACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	254	0.0039	357	c.36+ others(374): Show c.36+30984_36+30985insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACCGGCGCCCGCCACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCCCAACCCTGCTCTT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RELB_chr19_44996464_45043192	45038561	T T	TAAAAAAT others(350): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA19005.hp2 NA18999.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0225 a0001c0001t0002g0091 a0001c0001t0002g0225	2	382	0.0052	357	c.77 others(366): Show c.771_*772insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding		370		chr19	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(350): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATTAATATATATTTAAATATATATTAATATATA TTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATATA TATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATATTTA AATATATATATTTTTAATATATATATTTTTAAATATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTAAATATATATAT ATATATTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	408	0.0025	357	c.182 others(374): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATTAATATATATTTAAATATATATTAA TATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATT AATATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATA TATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATAT TTATATATATATTTTTATATATATATATTTATATATATATTTTTAAATAT ATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF32_chr7_156635774_156682130	156655787	T T	TTAGTAAT others(350): Show TTAGTAATTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAACCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	448	0.0022	357	c.417 others(374): Show c.417+1081_417+1082insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAACCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTAGTAATTTAAT	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
RPA3_chr7_7631518_7723607	7678853	A A	AATATATA others(350): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	308	0.0033	357	c.-75 others(376): Show c.-758+6976_-758+6977insATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTAT CTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7678880	A A	AATATATA others(350): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02451.hp2 HG02647.hp1 others(4): Show HG00733.hp1 HG02451.hp2 HG02647.hp1 HG02818.hp1 HG03942.hp1 NA18986.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0131 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0228 a0001c0001t0006g0221 a0001c0001t0007g0171	7	308	0.0227	357	c.-75 others(376): Show c.-758+6949_-758+6950insATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTAT CTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7678903	T T	TATAAATA others(350): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTA ATTTATAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0111 a0001c0001t0013g0111	1	308	0.0033	357	c.-75 others(376): Show c.-758+6926_-758+6927insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGTAT TTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATAT GTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATAT ATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATAT ATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7678961	A A	AATATATA others(350): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG00735.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0215 a0001c0001t0001g0232	2	308	0.0065	357	c.-75 others(376): Show c.-758+6868_-758+6869insATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTAT CTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7678988	A A	AATATATA others(350): Show AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0206 a0001c0001t0007g0206	1	308	0.0033	357	c.-75 others(376): Show c.-758+6841_-758+6842insATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTAT CTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RTN1_chr14_59590983_59875776	59750567	T T	TATATATT others(350): Show TATATATTATATCTATAATATATATCTATAATATATATATTATATCTATA ATATATAATATATCTATAATATATATATTATATCTATAATATATAATATA TCTATAATATATATATTATATCTATAATATATAATATATCTATAATATAT AATATATCTATAATATATATATTATATATATAATATATAATATATTATAT ATATAATATATAATATATTATATATATAATATATAATATATTATATCTAT AATATATTATATGTAATATATATATGTTATATCTATAATATATATTATAT CTATAATATATAATATATTATATCTATAATATATAATATATTATATCTAT AATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18999.hp1 NA19004.hp1 NA18955.hp1 NA18999.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0048	3	172	0.0174	357	c.242 others(374): Show c.242-4087_242-4086insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATTATATATTATAGATATAATATATATTATAGAT ATAACATATATATATTACATATAATATATTATAGATATAATATATTATAT ATTATATATATAATATATTATATATTATATATATAATATATTATATATTA TATATATAATATATATATTATAGATATATTATATATTATAGATATATTAT ATATTATAGATATAATATATATATTATAGATATATTATATATTATAGATA TAATATATATATTATAGATATATTATATATTATAGATATAATATATATAT TATAGATATATATTATAGATATAATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(350): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAG GGAGGGAGGGGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGG AGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAG AAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAA GAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAG GAGGAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	396	0.0025	357	c.807 others(374): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCTCCCCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(350): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAG GGAGGGAGGGGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGG AGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAG AAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGA GGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAG GAGGAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	396	0.0025	357	c.807 others(374): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCT CCCTCCCCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(350): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAG GAGGAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01071.hp1 others(32): Show HG00140.hp2 HG00733.hp2 HG01071.hp1 HG01261.hp1 HG01934.hp2 HG01943.hp2 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp1 HG02559.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG03041.hp2 HG03471.hp1 HG03491.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp1 NA18943.hp1 NA18967.hp1 NA18970.hp2 NA18977.hp1 NA18991.hp1 NA19003.hp1 NA19007.hp1 NA19080.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(32): Show a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088	35	396	0.0884	357	c.807 others(374): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCC CCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(350): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAG GGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA AGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAG GAGGAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02698.hp2 HG03490.hp1 others(2): Show HG02602.hp1 HG02698.hp2 HG03490.hp1 HG03492.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0078	5	396	0.0126	357	c.807 others(374): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCC CCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCC TCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCC TCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CCCCTCCC others(350): Show CCCCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCC CTCTCCCCTCACCCTCATCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTC ACCCCCTCTCCCTCACCTCCCTCTCCCTCACCTCCCTCCTCTCTCTCCTC CTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTCCCTCACCC TCCCTCTCCCCTTACCCCTCCCTCTCCCTCTCCTTCCCTCTCCCTACCCT CCCTCTCCCTCACCTTCCCTCTCCTTACCCTCCCTCTCCCTCACCCTCCC TCTCCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCT CTCCCTCA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0221 a0002c0002t0004g0221	1	262	0.0038	357	c.249 others(376): Show c.2496-1751_2496-1750insTGAGGGAGAGGGAGGGTAAGGGAGAG GGAAGGAGAGAGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTAAGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAGGGAGAGGGAAG GAGAGGGAGAGGGAGGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGG GTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGGAGAGAGAGGAGGGA GGTGAGGGAGAGGGAGGTGAGGGAGAGGGGGTGAGGGGAGAGGGAGGGTG AGGGGAGAGGGAGGATGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGG GAGGGTGAGGGAGAGGGAGGGTGAGGGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669058	T T	TCTCTCTC others(350): Show TCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTC CCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCC CTCATCCTCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTT CCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCC CTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCC TCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTCCCTCTCCCTCAC CTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCC TCCATCTC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0064 a0001c0016t0004g0064	1	262	0.0038	357	c.249 others(376): Show c.2495+1525_2495+1526insGAGATGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGTGAGGGAGAGGGAGGGG GAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGG GAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGG AAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAG GGTAAGGGGAGAGGGAGGGTGAGGAGGATGAGGGAGAGGGAGGGTAAGGG GAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAAGGAGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTG others(350): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACAGTATTTGTTTA TAAATACAGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	332	0.0030	357	c.632 others(374): Show c.632+8130_632+8131insGTTTATAAATACAGTATTTGTTTATAAA TACAGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTGTTTATAAATACTGTGTTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430122	A A	AGTATTTG others(350): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTGT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACAGTATTTATTTATAAATACTGTATTTATTTA TAAATACT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0329 a0001c0001t0036g0329	1	332	0.0030	357	c.632 others(374): Show c.632+8168_632+8169insGTTTATAAATACAGTATTTGTTTATAAA TACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACAGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430241	T T	TTATTTAT others(350): Show TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAA ATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0060 a0001c0002t0004g0060	1	332	0.0030	357	c.632 others(374): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(350): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18962.hp1 NA18959.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0325 a0001c0001t0003g0284 a0001c0001t0003g0325	2	332	0.0060	357	c.632 others(374): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1289111	T T	TCCCGTGT others(350): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0012 a0002c0003t0002g0012	1	290	0.0035	357	c.166 others(376): Show c.1662+1082_1662+1083insTCTGCCCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976328	A A	AGAGAATC others(350): Show AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGA TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0051 a0001c0005t0051	a0001c0005t0051g0030 a0001c0005t0051g0030	1	116	0.0086	357	c.199 others(376): Show c.1994+1794_1994+1795insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCCGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(350): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCAGGGCTGAG GCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0016 a0002c0012t0016	a0002c0012t0016g0003 a0002c0012t0016g0003	1	116	0.0086	357	c.199 others(376): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCAGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976797	T T	TCCTCCAG others(350): Show TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGA CGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0022 a0022	a0022c0050 a0022c0050	a0022c0050t0019 a0022c0050t0019	a0022c0050t0019g0092 a0022c0050t0019g0092	1	116	0.0086	357	c.199 others(376): Show c.1994+2269_1994+2270insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGCCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77484737	T T	TGGTGATG others(350): Show TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTG ATTGTGATGGTGGTGATGTGGATGGTGGTGATTGTGATGGTTGTGATTGT GATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGG GAGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTG GTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGG TGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGAAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0053 a0001c0001t0011g0053	1	150	0.0067	357	c.913 others(374): Show c.913+2406_913+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGATGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGAAGGGGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77484737	T T	TGGTGATG others(350): Show TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTG ATTGTGATGGTGGTGATGTGGGTGGTGGTGATTGTGATGGTTGTGATTGT GATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGG GAGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTG GTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGG TGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGAAGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp2 HG02717.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0032 a0003c0003t0037 a0001c0001t0032 a0003c0003t0037	a0001c0001t0032g0080 a0003c0003t0037g0137 a0001c0001t0032g0080 a0003c0003t0037g0137	2	150	0.0133	357	c.913 others(374): Show c.913+2406_913+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGGTGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGAAGGGGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(350): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGG TGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGG TGATTGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATT GGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGT GATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGT GATGGTGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	150	0.0067	357	c.914 others(374): Show c.914-2395_914-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTG ATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTG ATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGT GGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGG TGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAG TGGTGGTGATGGTGATGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(350): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATT GGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGT GATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGT GATGGTGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	150	0.0067	357	c.914 others(374): Show c.914-2368_914-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGATTGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGT GGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTG GGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGG TGGTGAAGGGGGTGATGGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484737	T T	TGGTGATG others(350): Show TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTG ATTGTGATGGTGGTGATGTGGATGGTGGTGATTGTGATGGTTGTGATTGT GATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGG GAGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTG GTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGG TGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGAAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0006 a0001c0001t0018g0006	1	158	0.0063	357	c.859 others(374): Show c.859+2406_859+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGATGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGAAGGGGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484737	T T	TGGTGATG others(350): Show TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGTGGTGGCGATGGTGGTG ATTGTGATGGTGGTGATGTGGGTGGTGGTGATTGTGATGGTTGTGATTGT GATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGG GAGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTG GTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGG TGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGAAGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0040 a0003c0003t0047 a0001c0001t0040 a0003c0003t0047	a0001c0001t0040g0012 a0003c0003t0047g0127 a0001c0001t0040g0012 a0003c0003t0047g0127	2	158	0.0127	357	c.859 others(374): Show c.859+2406_859+2407insATGTGGGTGGTGGTGGTGATTGTGATGG TGGTGGCGATGGTGGTGATTGTGATGGTGGTGATGTGGGTGGTGGTGATT GTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGAT TGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGG TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGAT TGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA TGGTGATTGTGATGGTGGTGAAGGGGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485004	G G	GGGTGATG others(350): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGAT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGA AGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGG GGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTG GTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTG GTAGTGGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0051 a0001c0001t0039g0051	1	158	0.0063	357	c.860 others(374): Show c.860-2410_860-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGT GATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGAT GGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGAT GGTGATTGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGA TGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGG TGATTGTGGTGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(350): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGG TGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGG TGATTGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATT GGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGT GATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGT GATGGTGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	158	0.0063	357	c.860 others(374): Show c.860-2395_860-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTG ATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTG ATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGT GGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGG TGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAG TGGTGGTGATGGTGATGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(350): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATT GGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGT GATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGT GATGGTGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	158	0.0063	357	c.860 others(374): Show c.860-2368_860-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGATTGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGT GGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTG GGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGG TGGTGAAGGGGGTGATGGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(350): Show GTATTATATATTATATAACATATAATATATAATGTATTATATATTATATA ATATATAATATATAATGTATTATATATTATATAATATATAATATATAATG TATTATATATTATATAATATATAATATATAATGTATTATATATTATATAA TATATAATGTATAATGTATTATATATTATATAATATATAATATATAATGT ATTATATATTATATAATATATAATATATAATACATTATATATTATATAAT ATATAATATATAATGTATTATATATTATATAATATATAATATATAATATA TAATGTATTATATATTATATAATATATAATGTATTATATATTATATAATA TATAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	290	0.0035	357	c.234 others(374): Show c.234-7088_234-7087insATATTATATATTATATAATATATAATAC ATTATATATTATATAATATATAATACATTATATATTATATATTATATATT ATATAATATATAATACATTATATATTATATATTATATAATATATAATGTA TTATATATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATACATTATATATTATATAATATATAATACAT TATATATTATATATTATATAATATATAATACATTATATATTATATATTAT ATAATATATAATACATTATATATTATATATTATATAATATATAATACATT ATATATTATATGTTATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIK3_chr11_116838402_117103428	117066521	T T	TAAAGAAA others(350): Show TAAAGAAACAATCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0036 a0001c0001t0011g0036	1	366	0.0027	357	c.273 others(376): Show c.273+31621_273+31622insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC CGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGGATTGTTTCTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(350): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGG GGAGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGC GGGAGGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGGGGGGCGGGAGGGGG AGGAGGCGGGGGGCGGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGG GGGGGGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGG GCGGGAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0189 a0001c0008t0001g0189	1	222	0.0045	357	c.914 others(376): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCGCCCCCCCCG CGTCCTCCCCCTCCCGCCCCCCCCGCCCCCCCCCGCCCCCCCCGCCTCCT TCCCCTCCCGCCCCCCCCGCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCG CCCCCCGCCTCCTCCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTC CCGCCCCCACGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCTCCCG CCCCCCCGCCTCCCCCCTGCCGCCCCCCCCCGCCTCCTCCCCCTGCCGCC CCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A4_chr5_132289394_132349190	132314691	A A	ACTCTGAT others(350): Show ACTCTGATTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0307 a0002c0002t0001g0307	1	394	0.0025	357	c.652 others(372): Show c.652+938_652+939insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTCTGATTGCTTTTT	SLC22A4	ENSG00000197208.6	transcript	ENST00000200652.4	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(350): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0374 a0001c0001t0005g0374	1	410	0.0024	357	c.-26 others(376): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(350): Show CTATCCTTGCTTTTATTTATTTATTTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0372 a0001c0001t0005g0372	1	410	0.0024	357	c.-26 others(376): Show c.-263-2255_-263-2254insTTATTTATTTATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(350): Show CTATCCTTGCTTTTATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0376 a0001c0001t0005g0376	1	410	0.0024	357	c.-26 others(376): Show c.-263-2255_-263-2254insTTATTTATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC2A13_chr12_39750025_40111081	40017796	T T	TAAAAGTC others(350): Show TAAAAGTCTGTTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGTTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	214	0.0047	357	c.925 others(376): Show c.925+10504_925+10505insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAACCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGCAACAGACTTTT	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	3/9			chr12	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(350): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACACGTAGTATATATATTCTATGTGTATATATATACACAT AGTATATATATTCTACGTGTGTGTATATATATACACATAGTATATATATT CTACGTGTATGTATACACATATATACATAGAATATATATACTATGTGTAT ATATATACACGTAGAATATATATACTATGTGTATATATACGTAGAATATA TATACTATGTGTATATATACGTAGAATATATATACTATGTGTATATATAT ACGTAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0012 a0001c0001t0016	a0001c0001t0012g0113 a0001c0001t0016g0107 a0001c0001t0012g0113 a0001c0001t0016g0107	2	182	0.0110	357	c.174 others(376): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTATATATATAC ACATAGTATATATATTCTACGTATATATATACACACGTAGTATATATATT CTATGTGTATATATATACACATAGTATATATATTCTACGTGTGTGTATAT ATATACACATAGTATATATATTCTACGTGTATGTATACACATATATACAT AGAATATATATACTATGTGTATATATATACACGTAGAATATATATACTAT GTGTATATATACGTAGAATATATATACTATGTGTATATATACGTAGAATA TATATACTATGTGTATATATATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A5_chr1_75197129_75616114	75280343	A A	AATCTATA others(350): Show AATCTATATATTGTATATATTATATATTGTATATATAATCTATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATGTATATATTATATATTGTATATATAATATAT ATAGTATATATTATATATTGTATATATAATATATATATAGTATATATTAT ATATTGTATATATAATATATATATTGTATATATTATATATTGTATATATA ATATATATATTGTATATATTATATATTGTATATATAATATATATATTGTA TATATTATATATTGTATATATAATATATATATTGTATATATTATATATAG TATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0155 a0001c0005t0005g0155	1	156	0.0064	357	c.176 others(374): Show c.176-5302_176-5301insAATATATACTATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACTATATATAT ATTATATATACAATATATAATATATACTATATATATTATATATACAATAT ATAATATATACATATATATATTATATATACAATATATAATATATACAATA TATATATTATATATACAATATATAATATATACAATATATAGATTATATAT ACAATATATAATATATACAATATATAGAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(350): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATATATAAAA TATATATATTATATAATATATATATAAAATATATATATTATATAATATAT ATATAAAATATATATAATATATAATATATGTAATATTATATATATTATAT ATTATATATATTATATATTATATATTATATATTATATATATTATATATTA TATATATTATATATAATATATATTATATATTATATATATTATATATAATA TATTATATATAATATATATAATATATTATATATAATATATATAATATATT ATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	190	0.0053	357	c.151 others(376): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATATTATATAATATATATATAAAATATATAT ATTATATAATATATATATAAAATATATATATTATATAATATATATATAAA ATATATATATTATATAATATATATATAAAATATATATAATATATAATATA TGTAATATTATATATATTATATATTATATATATTATATATTATATATTAT ATATTATATATATTATATATTATATATATTATATATAATATATATTATAT ATTATATATATTATATATAATATATTATATATAATATATATAATATATTA TATATAATATATATAATATATTATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMOC2_chr6_168436184_168672992	168594183	T T	TCCGAGCT others(350): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGAT CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAG AGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTA GAGGATCG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	180	0.0056	357	c.638 others(374): Show c.638-4604_638-4603insAGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCGCGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATGGCCG AGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCC GAGCTCCTCCTCCTTCCTGAGGCCTCACG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168595195	G G	GGGCATCT others(350): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAA GGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCT GAGGCCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG02293.hp2 others(4): Show HG01346.hp1 HG02135.hp1 HG02293.hp2 HG04184.hp2 NA18951.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(4): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0031	7	180	0.0389	357	c.638 others(374): Show c.638-3623_638-3622insGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTC CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar

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