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
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(368): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCGGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCCTGAGCCACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	294	0.0034	375	c.550 others(392): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAACAAAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(368): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATATTATATTATATATAATATATTATATATAATATATTATATATA ATATATTATATATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATTATATATAATATATTATATATATTATATT ATATATAATATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	286	0.0035	375	c.-50 others(386): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATATATAATATATTATATATA ATATATTATATATAATATATTATATATAATATAATATATATAATATATTA TATATAATATATTATATATAATATAATATATATAATATATTATATATAAT ATATTATATATAATATATTATATATAATATAATATATATAAATATATTTT TATATATAATAATTATATTATATATAATATATTTTTATATAAATATATAT TATATATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPP1R14C_chr6_150138044_150255392	150167968	T T	TTCTCCCC others(368): Show TTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTCCTCTCCTTCTCTCCTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02818.hp1 HG03486.hp1 HG01243.hp2 HG02818.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0296 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0296	3	312	0.0096	375	c.306 others(394): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCCTTCCTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2124246	G G	GGTAGTTA others(368): Show GGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAG GATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	286	0.0035	375	c.335 others(394): Show c.335-11014_335-11013insAGTTAGGATCACGGCTGTAGTTAGGG TCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGT TAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCAT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(368): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTATT AGATATATATATTATTATATATATCTAATAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATATT ATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGATA TATATATTATTATATATATCTAATAGATATATATATTATTATATATATCT AATAGATATATATATTATTATATATATCTAATAGATATATATATTATTAT ATATATCTAATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	344	0.0029	375	c.38- others(390): Show c.38-2384_38-2383insATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTATTAGATATATATAATAATA TATATATCTATTAGATATATATAATAATATATATATCTATTAGATATATA TAATAATATATATATCTATTAGATATATATAATAATATATATATCTAATA GATATATATAATAATATATATATCTAATAGATATATATAATAATATATAT ATCTAATAGATATATATAATAATATATATATCTAATAGATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAE1_chr20_57346255_57384202	57350906	C C	CGGGGGGA others(368): Show CGGGGGGACGGGGGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGC GGGGGGGCGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCG GGGGCGGGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGACGGGGGGACGGG GGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGG GGGCGGGGGGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGACGGGGGC GGGGGGGGCGGGGGGGCGGGGGCGGGGGGGGGCGGGGGGGCGGGGGCGGG GGGCGCGGGGGGGCGGGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGC GCGGGGGGGCGGGGGGGGCGGCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	342	0.0029	375	c.-52 others(384): Show c.-524_-523insGGGGGGACGGGGGGACGGGGGGACGGGGGGCGGGGG GGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGGCGGGGG GGGCGGGGGGGCGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGGCGGGGGG ACGGGGGGACGGGGGGACGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGG CGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGACGGGGGCG GGGGGACGGGGGCGGGGGGGGCGGGGGGGCGGGGGCGGGGGGGGGCGGGG GGGCGGGGGCGGGGGGCGCGGGGGGGCGGGGGCGGGGGGGGCGGGGGGAC GGGGGCGGGGGGCGCGGGGGGGCGGGGGGGGCGGCGCGG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		348		chr20	TogoVar
RGS11_chr16_263307_280944	267528	A A	ACACACAC others(368): Show ACACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTACAC ACAATCACACGTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTA CACATGCCTCATACACATGACACGTGCACACACCACATATGCATGCCTCA GTACACCTGCACACGTGCACTAAACACAATCACACATGCTATGCGTACAC ACCACACGTGTGCCTCACAGTGCTACACATGCATCCTACACGACACGTGC ACACACACCACACATGCATGCCTCACAGTACACCTGCACACGTGCACTAC ACACAATCACACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTA CACATGCCTCATACACACGACACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0015 a0015	a0015c0042 a0015c0042	a0015c0042t0003 a0015c0042t0003	a0015c0042t0003g0162 a0015c0042t0003g0162	1	456	0.0022	375	c.17 others(386): Show c.1740_*1741insCACGTGTCGTGTGTATGAGGCATGTGTAGCACTG AGGCACACGTGTGGTGTGTACACATAGCATGTGTGATTGTGTGTAGTGCA CGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGTGTGTGCACGTGT CGTGTAGGATGCATGTGTAGCACTGTGAGGCACACGTGTGGTGTGTACGC ATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGTGTACTGAGGCAT GCATATGTGGTGTGTGCACGTGTCATGTGTATGAGGCATGTGTAGCACTG TGAGGCACACGTGTGGTGTGTATGCATAGCACGTGTGATTGTGTGTAGTG CACGTGTGCAGGTGTACTGAGGCATGCATATGTGGTGTGTG	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		778		chr16	TogoVar
RGS11_chr16_263307_280944	267540	C C	CATGCATG others(368): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATGCATGCCTCAGTACACCTGCAC ACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTGTG CCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCACA CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC ATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCCTCAT ACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00673.hp1 others(14): Show HG00099.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG01106.hp2 HG01109.hp2 HG02056.hp1 HG02080.hp1 HG02523.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG03239.hp1 NA18939.hp1 NA18952.hp2 NA18966.hp2 NA21309.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0017c0026	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0003c0004t0002 a0017c0026t0002	a0001c0001t0001g0045 a0001c0001t0002g0012 a0001c0001t0002g0072 others(6): Show a0001c0001t0001g0045 a0001c0001t0002g0012 a0001c0001t0002g0072 a0001c0001t0002g0137 a0001c0001t0002g0148 a0001c0002t0002g0166 a0003c0004t0002g0097 a0003c0004t0002g0151 a0017c0026t0002g0054	17	456	0.0373	375	c.17 others(386): Show c.1728_*1729insATGTGGTGTGTGCACGTGTCGTGTGTATGAGGCA TGTGTAGCACTGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGATT GTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGT GTGTGCACGTGTCGTGTAGGATGCATGTGTAGCACTGAGAGGCACACGTG TGGTGTGTACGCATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGT GTACTGAGGCATGCATGTGGTGTGTGCACGTGTCATGTGTATGAGGCATG TGTAGCACTGTGAGGCACACGTGTGGTGTGTATGCATAGCACGTGTGATT GTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCAT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		766		chr16	TogoVar
RGS11_chr16_263307_280944	267552	A A	ACAGTACA others(368): Show ACAGTACACCTGCACACGTGCACTACACACAATCACACGTGCTATGCATA CACACCACACGTGTGCCTCACAGTGCTACACATGCCTCATACACATGACA CGTGCACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTA AACACAATCACACATGCTATGCGTACACACCACACGTGTGCCTCACAGTG CTACACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCC TCACAGTACACCTGCACACGTGCACTACACACAATCACACATGCTATGTG TACACACCACACGTGTGCCTCAGTGCTACACATGCCTCATACACACGACA CGTGCACACACCACATATGCATGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03486.hp2 HG03098.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0009 a0003c0004 a0003c0009	a0003c0004t0002 a0003c0009t0006 a0003c0004t0002 a0003c0009t0006	a0003c0004t0002g0187 a0003c0009t0006g0043 a0003c0004t0002g0187 a0003c0009t0006g0043	2	456	0.0044	375	c.17 others(386): Show c.1716_*1717insAGGCATGCATATGTGGTGTGTGCACGTGTCGTGT GTATGAGGCATGTGTAGCACTGAGGCACACGTGTGGTGTGTACACATAGC ATGTGTGATTGTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCA TGTGTGGTGTGTGTGCACGTGTCGTGTAGGATGCATGTGTAGCACTGTGA GGCACACGTGTGGTGTGTACGCATAGCATGTGTGATTGTGTTTAGTGCAC GTGTGCAGGTGTACTGAGGCATGCATATGTGGTGTGTGCACGTGTCATGT GTATGAGGCATGTGTAGCACTGTGAGGCACACGTGTGGTGTGTATGCATA GCACGTGTGATTGTGTGTAGTGCACGTGTGCAGGTGTACTG	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		754		chr16	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(368): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	280	0.0036	375	c.3+2 others(390): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(368): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATTAATATATATTTAAATATATATTAATATATA TTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATATA TATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATATTTA AATATATATATTTTTAATATATATATTTTTAAATATATATATATATATAT ATATTTTTATATATATATATTTATATATATATATATATATATATATATAT ATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	408	0.0025	375	c.182 others(392): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATTAATATATATTTAAATATATATTAA TATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATT AATATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATA TATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATAT ATATATATATTTTTATATATATATATTTATATATATATATATATATATAT ATATATATATTTTTAAATATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF150_chr4_140854807_141138469	141000052	A A	AGAAGGAA others(368): Show AGAAGGAAGAAGGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG GAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGA AGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAG AGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG GAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAGGAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0088 a0001c0001t0071g0088	1	184	0.0054	375	c.485 others(394): Show c.485-32180_485-32179insCTCCTCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCT CTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCCTTCTTCCTTC	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(368): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGAGGG AGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAG GGAGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAA GAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGG AGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAG GAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	396	0.0025	375	c.807 others(392): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCTCCCT CCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCC CTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCTC CCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTC CCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(368): Show TATAATATATATTATATATTATATATAATATATATTATATAATATATATA ATATATAATATATAATATATATAATATATAATATATAATATATATAATAT ATAATATATAATATATAATATATATTATATATAATATATATATTATATAT AATATATATTATATATAATATATATTATATATTATATATATATTATATAT ATATACACATTATACATATTATACACATATTATACACATATGTATACACA TACATATATATATACACATATTATACACATATATTATATATAATATATAA ATATATATTATATATATTTAATATATATTTTATATATAAATTATATATTA TATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0186 a0001c0003t0002g0186	1	188	0.0053	375	c.193 others(394): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATGTGTATAATATGTGTATATATATATGTA TGTGTATACATATGTGTATAATATGTGTATAATATGTATAATGTGTATAT ATATATAATATATATATAATATATAATATATATTATATATAATATATATT ATATATAATATATATATTATATATAATATATATTATATATTATATATTAT ATATTATATATATTATATATTATATATTATATATATTATATATTATATAT TATATATATTATATAATATATATTATATATAATATATAATATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(368): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	290	0.0035	375	c.166 others(394): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(368): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCCTATATATATATTCCATATATATATATTC CCTATATATATATTCCCTATATATATATTCCATATATATATATTCCATAT ATATATTCCATATATATATATTCCATATATATATATTTCATATATATATA TTCCATATATATATTCCATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATATATATA TTCCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	324	0.0031	375	c.115 others(392): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATATGGAATATATATATAGGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(368): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCCTATATATATATTCCCTATATATATATTC CCTATATATATATTCCCTATATATATATTCCATATATATATATTCCATAT ATATATTCCATATATATATATTCCATATATATATATTTCATATATATATA TTCCATATATATATTCCATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATATATATA TTCCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	324	0.0031	375	c.115 others(392): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATAGGGAATATATATATAGGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GCGATTGT others(368): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGAT TGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02735.hp2 HG04204.hp1 others(1): Show HG01168.hp2 HG02735.hp2 HG04204.hp1 NA18979.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0005 a0006c0007t0001 a0001c0001t0001 a0001c0001t0005 a0006c0007t0001	a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0005g0027 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0005g0027 a0006c0007t0001g0097	4	150	0.0267	375	c.914 others(392): Show c.914-2409_914-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(368): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGAT TGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01928.hp2 HG01934.hp2 others(8): Show HG00639.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02602.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18983.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0086 others(8): Show a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0002g0081 a0001c0001t0002g0125 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0006g0114 a0001c0001t0019g0076 a0001c0001t0020g0107	11	150	0.0733	375	c.914 others(392): Show c.914-2368_914-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGG TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGA TGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG	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(368): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGAT TGTGGTGGTGGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0128 a0001c0001t0006g0128	1	150	0.0067	375	c.914 others(392): Show c.914-2368_914-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGG TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTGGTGGTGGTGA TGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GCGATTGT others(368): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGAT TGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG02735.hp1 others(2): Show HG01109.hp1 HG01168.hp2 HG02735.hp1 HG04204.hp2 NA18979.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0002c0002t0008 a0006c0008t0001 a0001c0001t0001 a0002c0002t0008 a0006c0008t0001	a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0132 a0002c0002t0008g0050 a0006c0008t0001g0110	5	158	0.0317	375	c.860 others(392): Show c.860-2409_860-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(368): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGAT TGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01928.hp2 others(9): Show HG00639.hp1 HG01109.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG02602.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18983.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0031 a0001c0001t0059	a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0039 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0002g0052 a0001c0001t0005g0104 a0001c0001t0016g0144 a0001c0001t0017g0112 a0001c0001t0031g0021 a0001c0001t0059g0122	12	158	0.0760	375	c.860 others(392): Show c.860-2368_860-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGG TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGA TGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG	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(368): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGAT TGTGGTGGTGGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	158	0.0063	375	c.860 others(392): Show c.860-2368_860-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGG TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTGGTGGTGGTGA TGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(368): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0040 a0001c0001t0058g0040	1	214	0.0047	375	c.691 others(394): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A6_chr15_34224784_34342781	34310174	A A	AGTGTGTG others(368): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGTGTCCAGGCTGGTG AACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCCGTATCCAGGCTGGTGTT GAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTG GTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCTGTGTCCAGGCT GGTGTTGAACTCCTGGGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTCCCC ATGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTATGTATGTATGTGTGTGTCCCCGTGGCCAGG CTGGTGTTGAACTCCTGGGCTCAAGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	274	0.0037	375	c.271 others(394): Show c.271+26235_271+26236insACTTGAGCCCAGGAGTTCAACACCAG CCTGGCCACGGGGACACACACATACATACATACACACACACACACACACA CACACACACACACACACTTGAGCCCAGGAGTTCAACACCAGCCTGGACAT GGGGACACACACACACACACACACACACACGAGCCCAGGAGTTCAACACC AGCCTGGACACAGGGACACACACACACACTTGAGCCCAGGAGTTCAACAC CAGCCTGGACACGGGGACACACACACACACACACTTGAGCCCAGGAGTTC AACACCAGCCTGGATACGGGGACACACACACACACTTGAGCCCAGGAGTT CACCAGCCTGGACACAGGGACACACACACACACACACACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(368): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGAGGGAGGGGAAGGA GGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGA GGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGAGGGGAAGGAGGC GGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	222	0.0045	375	c.914 others(394): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCCGCCTCCTTCCCCTCCCGCC CCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCTCCC GCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCCC CCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG CCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18979.hp1 NA19072.hp2 NA18941.hp2 NA18979.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0092 a0001c0001t0002g0195 a0001c0001t0002g0197	3	314	0.0096	375	c.209 others(392): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCG GCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG CCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACAGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19000.hp2 NA18979.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	314	0.0064	375	c.209 others(392): Show c.209+2054_209+2055insAGCCAGCCGCCCTGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCG GCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(368): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCG GGGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGTGGGGGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG CCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp1 HG01258.hp1 others(33): Show HG00323.hp2 HG01257.hp1 HG01258.hp1 HG02015.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02602.hp1 HG03453.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18994.hp1 NA18995.hp2 NA19009.hp1 NA19010.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19082.hp1 NA19088.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0210 a0006c0009t0001g0130	36	314	0.1147	375	c.209 others(392): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCG GCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A12_chr2_171778405_171899244	171866659	G G	GGACGGGG others(368): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCG GAAGGGGCGGCTGGCCGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGTTGGGGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCA GACGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ACGGGGCGGCTGGCCGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	314	0.0032	375	c.209 others(392): Show c.209+2021_209+2022insTGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCCCCAACGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCCGGCCAGCCGCCCCTTCCG GGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A21_chr14_36672921_37177606	36789816	T T	TTTTTATA others(368): Show TTTTTATATATTTATATATATATTTATATATATTTATATATTTATATATA TTTATATATATATTTATATATATTTATATATTTATATATATTTATATATA TTTATATATATTTATATATTTATATATATTTATATATATATTTATATATA TTTATATATTTATATATATTTTTATATAATATATTTTTATTATATATATA TTTATATATATAATATAATATATATATTATATATATAATATATTTATATA TATTTATATATATTATATATATTATATATTTATATATATTTATATATATT TATATATTTATATATAATATATTTTTATATATTTTTATATAAATTTATAT ATATATTTTATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	164	0.0061	375	c.203 others(394): Show c.203+24101_203+24102insTATATATAAATATATATAAAATATAT ATATAAATTTATATAAAAATATATAAAAATATATTATATATAAATATATA AATATATATAAATATATATAAATATATAATATATATAATATATATAAATA TATATAAATATATTATATATATAATATATATATTATATTATATATATAAA TATATATATAATAAAAATATATTATATAAAAATATATATAAATATATAAA TATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA TATATATAAATATATATAAATATATAAATATATATAAATATATATATAAA TATATATAAATATATAAATATATATAAATATATATATAAATATATAAAA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(368): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGATGATGATGG TAATGTTGATGGCGGTAGCAATAGTGATGATGATGGTGATGGTGATGATG ATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGTGAT GGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGATTG TGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTGGTGCTG ATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTAGTAGT AATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGATGATGGTTGTAG CAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18942.hp2 NA18944.hp1 others(5): Show NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18969.hp1 NA18969.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0002 a0004c0003 a0007c0007 a0003c0002 a0004c0003 a0007c0007	a0003c0002t0001 a0004c0003t0001 a0007c0007t0001 a0003c0002t0001 a0004c0003t0001 a0007c0007t0001	a0003c0002t0001g0012 a0004c0003t0001g0125 a0004c0003t0001g0137 others(5): Show a0003c0002t0001g0012 a0004c0003t0001g0125 a0004c0003t0001g0137 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0007c0007t0001g0090 a0007c0007t0001g0115	8	336	0.0238	375	c.536 others(390): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAAT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATTACCATCACCAGCACCACCACCACCACCATCACTACCATCATC ATCACCATCACCATCATCATCACTATTGCTACCGCCATCAACATTACCAT CATCATCACCATCACCATCATCACCATCATGACCATCATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SLC6A18_chr5_1220381_1251189	1238580	G G	GTCAGGTT others(368): Show GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGG CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	456	0.0022	375	c.732 others(390): Show c.732+534_732+535insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGA AAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCC TGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGA AAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(368): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATAATATATATATAATATATATAT ATATATTATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATAATATATATATAAAATATATATATTATATAATATATGTAA TATTATATATAATATATATATTATATATATTATATATTATATATATTATA TATATAATATATAATATATATTATATATTATATATATTATATATATTATA TATAATATATTATATATAATATATATAATATATATAATATATATATTATA TATAATATATATAATATATATAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	190	0.0053	375	c.151 others(394): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATAATATATATATAATATATATATAT ATATTATATATAAAATATATATATTATATAATATATATATAAAATATATA TATTATATAATATATATATAAAATATATATATTATATAATATATGTAATA TTATATATAATATATATATTATATATATTATATATTATATATATTATATA TATAATATATAATATATATTATATATTATATATATTATATATATTATATA TAATATATTATATATAATATATATAATATATATAATATATATATTATATA TAATATATATAATATATATAAAAAATATATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORCS2_chr4_7187538_7747827	7448886	C C	CACCCTCC others(368): Show CACCCTCCCTCCCACCACCTCCCTCCCTCCCTCCCTCCCCTCCCCTCCTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCCTCCCTTCCTCC CTCCCTCCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCTCCCT CCCTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCCTCCCCTCCTCCCTCC CCTCCCTCCTCCCTCCCCTTCCCTCCCTCCCTTCCCTCCCCCTCCTCCCC TCCTCCCTCCCTTCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCTTC CTCCCTCCCTCCTCCTCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	168	0.0060	375	c.548 others(394): Show c.548+52531_548+52532insACCCTCCCTCCCACCACCTCCCTCCC TCCCTCCCTCCCCTCCCCTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCCTCCCTTCCTCCCTCCCTCCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCCTCCCCTCCTCCCTCCCCTCCCTCCTCCCTCCCCTTCCCTCCC TCCCTTCCCTCCCCCTCCTCCCCTCCTCCCTCCCTTCCTCCCTCCCTTCC CTCCCTCCCCTCCCTCCTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCTCCCTCCTTCCTCCCTCCCTCCTCCTCCCTCCCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SOX11_chr2_5687384_5706385	5706089	A A	AGAGGAGC others(368): Show AGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGA GCAGGGAGACTGGGGTAGAGGAGCAGGGAGACTGGGGTGGAGGAGCTGGG AGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCT GGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTG GAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAG CAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTAGAGGAGCAGGGA GACTGGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGG GGTGGAGGAGCAGGGAGGCTGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02300.hp2 HG02965.hp1 others(3): Show HG01168.hp1 HG02300.hp2 HG02965.hp1 HG03017.hp1 HG03490.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0065 a0001c0001t0071 others(2): Show a0001c0001t0028 a0001c0001t0065 a0001c0001t0071 a0001c0001t0085 a0001c0001t0109	a0001c0001t0028g0000 a0001c0001t0065g0000 a0001c0001t0071g0000 others(2): Show a0001c0001t0028g0000 a0001c0001t0065g0000 a0001c0001t0071g0000 a0001c0001t0085g0000 a0001c0001t0109g0000	6	434	0.0138	375	c.12 others(388): Show c.12042_*12043insGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGG GAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAGCAGGGAGACT GGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGT AGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGA GCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGG AGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTG GGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAGCAGGGAGGCTGGGGTGG AGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4705		chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(368): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGAGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGG GAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGGG AGGGGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	260	0.0039	375	c.138 others(394): Show c.1384-5708_1384-5707insCTCCCCCCCTCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCT CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTC CCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCC CCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(368): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGGAGG GGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAG GGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGG GGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	260	0.0039	375	c.138 others(394): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCC CCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCC CTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCC CCTCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST18_chr8_52105838_52414756	52276161	A A	ACATACCA others(368): Show ACATACCACATACACACCACACAGGCAAACTACACACCACACACACCAAA CACACACCACATACACACACCCTATACATACCACACACACACACAAACCA CATGCACACCACACACCACACATAGCCCATACACACCACACAGGGAAACT ACACACCACATACACCAAACATACCACATACACACACCCCATACATACCA CACTCACACACCACATGCACACATACCACACTCACACCATATACCATACA TCACACATATACGCCACACACACCACGCACACACACACCACACACATCAC ACATGCAAGCCACACACCACACACATCAAACACACACAACATACCACATG CACACACACCACACATACCACACAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp1 NA18522.hp2 HG02145.hp1 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0035 a0001c0001t0003g0021 a0001c0001t0009g0043 a0001c0001t0001g0035 a0001c0001t0003g0021 a0001c0001t0009g0043	3	104	0.0289	375	c.-46 others(396): Show c.-464-46085_-464-46084insCCTGTGTGGTATGTGTGGTGTGTG TGCATGTGGTATGTTGTGTGTGTTTGATGTGTGTGGTGTGTGGCTTGCAT GTGTGATGTGTGTGGTGTGTGTGTGCGTGGTGTGTGTGGCGTATATGTGT GATGTATGGTATATGGTGTGAGTGTGGTATGTGTGCATGTGGTGTGTGAG TGTGGTATGTATGGGGTGTGTGTATGTGGTATGTTTGGTGTATGTGGTGT GTAGTTTCCCTGTGTGGTGTGTATGGGCTATGTGTGGTGTGTGGTGTGCA TGTGGTTTGTGTGTGTGTGTGGTATGTATAGGGTGTGTGTATGTGGTGTG TGTTTGGTGTGTGTGGTGTGTAGTTTGCCTGTGTGGTGTGTATGTGGTAT G	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(368): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCC CGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGC TGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTG GCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCC CCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCC CCTGCCCGCTCCGAGCTTCGCCCCGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01069.hp2 others(44): Show HG00140.hp2 HG00423.hp1 HG01069.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02273.hp2 HG02300.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp1 HG04184.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19012.hp2 NA19070.hp2 NA19079.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0046 a0001c0001t0053 a0001c0001t0055 a0001c0001t0074	a0001c0001t0001g0150 a0001c0001t0003g0006 a0001c0001t0003g0010 others(24): Show a0001c0001t0001g0150 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0254 a0001c0001t0003g0279 a0001c0001t0005g0007 a0001c0001t0011g0018 a0001c0001t0011g0048 a0001c0001t0011g0124 a0001c0001t0011g0259 a0001c0001t0011g0283 a0001c0001t0014g0009 a0001c0001t0014g0282 a0001c0001t0023g0265 a0001c0001t0024g0064 a0001c0001t0026g0256 a0001c0001t0029g0258 a0001c0001t0029g0264 a0001c0001t0030g0125 a0001c0001t0034g0029 a0001c0001t0046g0263 a0001c0001t0053g0278 a0001c0001t0055g0271 a0001c0001t0074g0266	47	388	0.1211	375	c.483 others(388): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGC AGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGG GCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCAC TGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGC GGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCTCC others(368): Show CCCCCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCG GCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCGGCCCAGTGCCCCGC CCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGA GCTCCGCCCTGGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTG GCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCC CCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCTCGCCCCGGCC CCTGCCCGCTCCGAGCTTCGCCCCGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0168 a0001c0001t0061g0168	1	388	0.0026	375	c.483 others(388): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGAGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGCCAGGGCGGAGCTCGGAG CGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGG CACTGGGCCGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCACTGGGCCGGGGC GGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STMN3_chr20_63634712_63658424	63642018	C C	CCGCCCCG others(368): Show CCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGC CCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGA GCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGC TAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCC CCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTTG CCCTGCCCCCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCG CCCCGGCCCCTGCCCGCTCCGAGCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG02129.hp2 others(17): Show HG00323.hp1 HG01074.hp2 HG02129.hp2 HG02280.hp2 HG02602.hp1 HG02615.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0035 a0001c0001t0037	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 others(16): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0003g0233 a0001c0001t0003g0238 a0001c0001t0003g0246 a0001c0001t0008g0045 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0281 a0001c0001t0012g0237 a0001c0001t0017g0232 a0001c0001t0021g0234 a0001c0001t0035g0236 a0001c0001t0035g0239 a0001c0001t0037g0242 a0001c0001t0037g0247	20	388	0.0516	375	c.483 others(388): Show c.483+89_483+90insAAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGC CGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAGGGCAAGCA GCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGGGCCAG GGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCA GGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAG CGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGG CACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(368): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGGCGGCGGGAGGAGGGAGGGCATGG GGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	314	0.0032	375	c.309 others(394): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC CCCTGCTGCACCCTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCC TCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCT GCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTC CCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(368): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGG GAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGG GGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	314	0.0032	375	c.309 others(394): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC CCCTGCTGCACCCTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCC TCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCT GCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTC CCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(368): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGG GGAGGGAGGGGGGCGGCGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	314	0.0032	375	c.309 others(394): Show c.3091-8707_3091-8706insCTCCCCCCCGCCGCCCCCCTCCCTCC CCCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCC TCCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCC ACGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATC CGCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCC TCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCC GCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTC CCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(368): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	314	0.0032	375	c.309 others(394): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATC CGCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCC TCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCC GCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTC CCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(368): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGGCGGCGGGGGGGGAGGGAGGGC GTGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGG GAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGG GGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0001 a0010c0024t0001	a0010c0024t0001g0010 a0010c0024t0001g0010	1	314	0.0032	375	c.309 others(394): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCAC GCCCTCCCTCCCCCCCCGCCGCCCCCCTCCCTCCCCCCACGCCCTCCATC CGCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCC TCCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCC GCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTC CCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(368): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGGAGGGAGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGC GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGG GGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	314	0.0032	375	c.309 others(394): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCCACCACCCCCTCCTTTCCCC GCCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTC CCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(368): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GGAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGG CGGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGC GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGG GGGAGGGAGGGGGCGGCGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0001 a0017c0018t0001	a0017c0018t0001g0001 a0017c0018t0001g0001	1	314	0.0032	375	c.309 others(394): Show c.3091-8707_3091-8706insCTCCCCCCCGCCGCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCA CGCCCTCCCTCCCCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCC GCCTGCTGCACCCTCCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCT CCCTCTCCCCGCCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCG CCGTCTCCTCCTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCC CCCCCACTGCACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48638400	A A	ACCCCGAC others(368): Show ACCCCGACACTAAGCCCTGGGACACCACACACAGGCGGGACCCCCCCCCA TCCCCCGACACTAAGCCCTGGGTCACCGCACACAGGGGGGACCCCAACAC TAAGCCCTGGGACACCACACACAGGGGGGACCCCGACACTAAGCCCTGGG ACACCACACACAGGGGGGACCCCGACACTAAGCCCTGGGTCACCACACAC AGGCAATACCCCTCCCCTGACACTAAGCCACACATAGGCAACAACCCCCC ACACACACTAAGCCCTGGGCCACACACAGGCAATACCACCCCCCCCGACA CTAAGCCCTGGGACACCGCACACAGGGGGGACCCCGACACTAAGCCCTGG GACACCGCACACAGGCAGCACCCCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18994.hp2 HG02083.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0210 a0001c0001t0001g0171 a0001c0001t0001g0210	2	258	0.0078	375	c.113 others(392): Show c.113-8172_113-8171insACACACAGGCGGGACCCCCCCCCATCCC CCGACACTAAGCCCTGGGTCACCGCACACAGGGGGGACCCCAACACTAAG CCCTGGGACACCACACACAGGGGGGACCCCGACACTAAGCCCTGGGACAC CACACACAGGGGGGACCCCGACACTAAGCCCTGGGTCACCACACACAGGC AATACCCCTCCCCTGACACTAAGCCACACATAGGCAACAACCCCCCACAC ACACTAAGCCCTGGGCCACACACAGGCAATACCACCCCCCCCGACACTAA GCCCTGGGACACCGCACACAGGGGGGACCCCGACACTAAGCCCTGGGACA CCGCACACAGGCAGCACCCCTCCCCCGACACTAAGCCCTGGGACACC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar

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