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
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(383): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATATTTAAAGATATATATTAAATTATATATATTAAAATA TGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAA AATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAATAT ATATATATTTATATATATATTTTTATATATATATTTATATATATATTTTT ATATATATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	365	0.0055	390	c.182 others(407): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATATTTAAAGATATATAT TAAATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATA ATTTAAATATACATATTTAAAAATATATATATTTAAATATATATATTTTT AATATATATATTTTTAAATATATATATATTTATATATATATTTTTATATA TATATTTATATATATATTTTTATATATATATATTTATATATATATTTTTA AATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RPA3_chr7_7631518_7723607	7679011	T T	TATAAATA others(383): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	254	0.0039	390	c.-75 others(409): Show c.-758+6818_-758+6819insCTATAAATTAAATATATAAATATATA TTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT AAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679038	T T	TATAAATA others(383): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	235	0.0043	390	c.-75 others(409): Show c.-758+6791_-758+6792insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT AAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(383): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	158	0.0063	390	c.494 others(409): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
S1PR4_chr19_3173769_3185332	3178168	A A	ATCGGGCT others(383): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	303	0.0033	390	c.-62 others(399): Show c.-625_-624insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		600		chr19	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(383): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATTATATATAATATAATA TATATTATATATAATATATAATATATATTATATGTTATATATAATATATA TTATATGTTATATATAATATATATTTATATGTTATATATAATATATATTA TATATTATATATAATATATAATATATATTACATATAATATATAATATATA TTATATATTATATATTATATATTATATATTATATATAATATATATTATAT ATTATATATAATATATAAATATATATTATATATATTTAATATATATTTTA TATATAAATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG02809.hp2 HG00642.hp2 HG01358.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0068 a0001c0003t0002g0096 a0001c0003t0002g0111 a0001c0003t0002g0068 a0001c0003t0002g0096 a0001c0003t0002g0111	3	31	0.0968	390	c.193 others(409): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTATATATAATATATAATATATA ATATATAATATATAATATATATTATATATTATATGTAATATATATTATAT ATTATATATAATATATAATATATATTATATATAACATATAAATATATATT ATATATAACATATAATATATATTATATATAACATATAATATATATTATAT ATTATATATAATATATATTATATTATATATAATATATAATATATATTATA TATAATATATAATATATTATATATAATATATTATATATAATATATATTAT ATATTATATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(383): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATTATATATAATATAATA TATATTATATGTTATATATAATATATATTATATGTTATATATAATATATA TTATATGTTATATATAATATATATTTATATGTTATATATAATATATATTA TATATTATATATAATATATAATATATATTACATATAATATATAATATATA TTATATATTATATATTATATATTATATATTATATATAATATATATTATAT ATTATATATAATATATAAATATATATTATATATATTTAATATATATTTTA TATATAAATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02886.hp2 HG01261.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0127 a0001c0001t0003g0077 a0001c0001t0003g0127	2	30	0.0667	390	c.193 others(409): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTATATATAATATATAATATATA ATATATAATATATAATATATATTATATATTATATGTAATATATATTATAT ATTATATATAATATATAATATATATTATATATAACATATAAATATATATT ATATATAACATATAATATATATTATATATAACATATAATATATATTATAT ATAACATATAATATATATTATATTATATATAATATATAATATATATTATA TATAATATATAATATATTATATATAATATATTATATATAATATATATTAT ATATTATATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(383): Show TATAACATATAATATATATTATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATTATATATAATATAATA TATATTATATATAATATATAATATATATTATATGTTATATATAATATATA TTATATGTTATATATAATATATATTTATATGTTATATATAATATATATTA TATATTATATATAATATATATTATATATTACATATAATATATAATATATA TTATATATTATATATTATATATTATATATTATATATAATATATATTATAT ATTATATATAATATATAAATATATATTATATATATTTAATATATATTTTA TATATAAATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0044 a0001c0001t0019g0044	1	29	0.0345	390	c.193 others(409): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTATATATAATATATAATATATA ATATATAATATATAATATATATTATATATTATATGTAATATATAATATAT ATTATATATAATATATAATATATATTATATATAACATATAAATATATATT ATATATAACATATAATATATATTATATATAACATATAATATATATTATAT ATTATATATAATATATATTATATTATATATAATATATAATATATATTATA TATAATATATAATATATTATATATAATATATTATATATAATATATAATAT ATATTATATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284167	G G	GGGTGGGG others(383): Show GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGG GGGGTGGGGGGGTTGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGGTTGGGTGA GGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTT GGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0133 a0003c0004t0003g0133	1	284	0.0035	390	c.464 others(403): Show c.464+78_464+79insGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGG GGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAG TGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGT GGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGG GTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGG GTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGTTGAG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(383): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCCTATATATATATTCCATATATATATATTCCCTATATATATATTC CATATATATATATTCCCTATATATATATTCCCTATATATATATTCCATAT ATATATATTCCATATATATATTCCATATATATATATTCCATATATATATA TTTCATATATATATATTCCATATATATATTCCATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATATATATTCCATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0086 a0004c0006t0001g0086	1	39	0.0256	390	c.115 others(407): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATATGGAATATATATATAGGGAATATATATATATGGAATATA TATATAGGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84086468	T T	TATATTAT others(383): Show TATATTATTATATTATATTTACATATAATATATTATTATATTATATTTAC ATATAATATATTATTATATTATATTTACATATAATATATTATTATATTAT ATTTACATATAATATATTATTATATTATATTTACATATAATATATTATTA TATTATATTTACATATAATATATTATTATATTATATTTACATATAATATA TTATTATATTATATTTACATATAATATATTATTATATTATATTTACATAT AATATATTATTATATTATATTTACATATAATATATTATTATATTATATTT ACATATAATATATTATTATATTATATTTACATATAATATATTATTATATT ATATTTACATATAATATATTATTATATTATATTTACATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	259	0.0039	390	c.453 others(409): Show c.453+24001_453+24002insTATATGTAAATATAATATAATAATAT ATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAA TAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATA ATATAATAATATATTATATGTAAATATAATATAATAATATATTATATGTA AATATAATATAATAATATATTATATGTAAATATAATATAATAATATATTA TATGTAAATATAATATAATAATATATTATATGTAAATATAATATAATAAT ATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATAT AATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATA TAATATAATAATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(383): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGT GGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAAT GTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	9	0.1111	390	c.914 others(407): Show c.914-2368_914-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATTGTGATGGTGGTGATGGT GATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGG TGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGG TGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATG GTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(383): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGG TGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTG ATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGT GGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAAT GTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	9	0.1111	390	c.860 others(407): Show c.860-2368_860-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAT GGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGGTGATTGTGATGGTGGTGATTGTGATGGTGGTGATGGT GATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGG TGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGG TGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATG GTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHANK1_chr19_50654255_50724802	50678920	G G	GTGGGGAG others(383): Show GTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACA GGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCA GGGTGATGGAGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0078 a0001c0018t0078	a0001c0018t0078g0124 a0001c0018t0078g0124	1	184	0.0054	390	c.257 others(409): Show c.2578-6807_2578-6806insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATC TTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACCCTGAC CCCTCTCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCA CCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACC CTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678920	G G	GTGGGGAG others(383): Show GTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACA GGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCA GGGTGATGGAGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0239 a0001c0003t0023g0240 a0001c0003t0023g0239 a0001c0003t0023g0240	2	185	0.0108	390	c.257 others(409): Show c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATC TTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACCCTGAC CCCTCTCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCA CCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACC CTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC2_chr19_411589_466033	432318	G G	GATCGTGA others(383): Show GATCGTGAGTGAGAGACAGAGGAGGCCGGGCAGATAGATGGCGCTTCATC GTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGC GCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGA TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC GGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGACA GAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	210	0.0048	390	c.111 others(409): Show c.1111-1572_1111-1571insGAAGCGCCATCTGCCCGGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CTGCCCCGCCTCCTCTGTCTCTCACTCACGATCTCACTCACGATGAAGCG CCATCTATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACG ATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTGT CTCTCACTCACGAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SKI_chr1_2223319_2315213	2280844	C C	CGGCGGAG others(383): Show CGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGA GATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTC ATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACA CCTGAGAAGACAGGCAGTGGCGGAGATCTTCATAGAGAGGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0086 a0001c0001t0048g0086	1	275	0.0036	390	c.970 others(409): Show c.970-22129_970-22128insAGATCTTCAGAGAGAGGATGCCCGAG AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAG ACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGAC AGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACACCTGAGAAGACAGGCAGTGGCGGAGATCTTCA TAGAGAGGTGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(383): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GGCCGGAGGGGGAGGAGGCGGGGGGGGGCGGGAGGGGCGGGAGGGGGAGG AGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGG GGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGG CGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp1 NA18522.hp1 HG02486.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0029 a0001c0001t0035 a0001c0001t0022 a0001c0001t0029 a0001c0001t0035	a0001c0001t0022g0049 a0001c0001t0029g0011 a0001c0001t0035g0050 a0001c0001t0022g0049 a0001c0001t0029g0011 a0001c0001t0035g0050	3	27	0.1111	390	c.914 others(409): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCCC CCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCCT CCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCCCGCCT CCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCT CCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCC TCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCCC CTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A12_chr2_171778405_171899244	171866626	C C	CGGGCGGG others(383): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGG GGGGGGGGGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCAGA CGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGAC GGGGCGGCTGGCCGGCCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	12	0.0833	390	c.209 others(407): Show c.209+2054_209+2055insAGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGGCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCCCCCCCCCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A21_chr14_36672921_37177606	36789825	T T	TAATATTA others(383): Show TAATATTATATATATTTATATATATTTATATATATATTTATATATATTTA TATATTTATATATATTTATATATATATTTATATATATTTATATATTTATA TATATTTATATATATATATATTTATATTTATATATTTATATATATTTATA TATAATATATTTTTATTATATATATATTTATATATATATAATATAATATA TATATTATATATATAATATATATAAATATATTATATATATTATATATAAT ATATTTATATATATTTATATATTATATATATAATATATTTATATATATAT ATATTATATATATAATATATTTATATATATTTATATATTTATATATAATA TATTTTTATATATTTTTATATAAATTTATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01358.hp1 HG01433.hp2 others(2): Show HG01256.hp1 HG01358.hp1 HG01433.hp2 HG02135.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0012 a0001c0001t0002 a0001c0001t0003 a0001c0002t0012	a0001c0001t0002g0029 a0001c0001t0002g0083 a0001c0001t0002g0098 others(2): Show a0001c0001t0002g0029 a0001c0001t0002g0083 a0001c0001t0002g0098 a0001c0001t0003g0017 a0001c0002t0012g0026	5	146	0.0342	390	c.203 others(409): Show c.203+24092_203+24093insTAAAATATATATATAAATTTATATAA AAATATATAAAAATATATTATATATAAATATATAAATATATATAAATATA TTATATATATAATATATATATATATAAATATATTATATATATAATATATA AATATATATAAATATATTATATATAATATATATAATATATTTATATATAT TATATATATAATATATATATTATATTATATATATATAAATATATATATAA TAAAAATATATTATATATAAATATATATAAATATATAAATATAAATATAT ATATATATAAATATATATAAATATATAAATATATATAAATATATATATAA ATATATATAAATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAATATT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36789825	T T	TAATATTA others(383): Show TAATATTATATATATTTATATATATTTATATATATATTTATATATATTTA TATATTTATATATATTTATATATATATTTATATATATTTATATATTTATA TATATTTATATATATATATATTTATATTTATATATTTATATATATTTATA TATAATATATTTTTATTATATATATATTTATATATATATAATATAATATA TATATTATATATATAATATATATAAATATATTATATATATTATATATATA ATATATTTATATATATTTATATATTATATATATAATATATTTATATATAT ATATTATATATATAATATATTTATATATATTTATATATTTATATATAATA TATTTTTATATATTTTTATATAAATTTATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	142	0.0070	390	c.203 others(409): Show c.203+24092_203+24093insTAAAATATATATATAAATTTATATAA AAATATATAAAAATATATTATATATAAATATATAAATATATATAAATATA TTATATATATAATATATATATATAAATATATTATATATATAATATATAAA TATATATAAATATATTATATATATAATATATATAATATATTTATATATAT TATATATATAATATATATATTATATTATATATATATAAATATATATATAA TAAAAATATATTATATATAAATATATATAAATATATAAATATAAATATAT ATATATATAAATATATATAAATATATAAATATATATAAATATATATATAA ATATATATAAATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAATATT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(383): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00735.hp2 others(14): Show HG00408.hp2 HG00544.hp1 HG00735.hp2 HG01099.hp2 HG01123.hp1 HG01256.hp2 HG01515.hp1 HG02602.hp1 HG02976.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG03834.hp2 NA19057.hp2 NA19081.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0027 a0001c0001t0053 a0001c0003t0003 a0001c0004t0049	a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0070 others(14): Show a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0093 a0001c0001t0004g0102 a0001c0001t0006g0072 a0001c0001t0006g0089 a0001c0001t0009g0091 a0001c0001t0010g0066 a0001c0001t0011g0069 a0001c0001t0012g0068 a0001c0001t0016g0074 a0001c0001t0027g0097 a0001c0001t0053g0100 a0001c0003t0003g0078 a0001c0004t0049g0073	17	97	0.1753	390	c.173 others(409): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(383): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAA TATAAATATATTATATATATTATATATAAATATAAATATATTATATATTA TATAAATATAAATATATTATATATTATATAAATATAAATATATTATATAT TATATATAAATATAAATATATTATATATTATATATAATATAAATATATTA ATATATTATATATAATATAAATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	280	0.0036	390	c.-70 others(407): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATTTATATT ATATATAATATATTAATATATTTATATTATATATAATATATAATATATTT ATATTTATATATAATATATAATATATTTATATTTATATAATATATAATAT ATTTATATTTATATAATATATAATATATTTATATTTATATATAATATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTATATA TAATATATATAATATATTTATATTTATGTATAATATATATAATATATTTA TATTTATGTATAATATATATAATATATTTATATTATATATAATATATATA ATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(383): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAA TATAAATATATTATATATTATATATATAAATATAAATATATTATATATTA TATAAATATAAATATATTATATATTATATAAATATAAATATATTATATAT TATATATAAATATAAATATATTATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTAATATATTATATATAATATAAA TATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01175.hp2 others(12): Show HG00280.hp1 HG00423.hp2 HG01175.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG02129.hp2 HG02165.hp2 HG03669.hp2 HG03710.hp1 NA18942.hp1 NA18944.hp1 NA18956.hp2 NA19005.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0008 a0001c0003 a0002c0002 a0002c0008	a0001c0003t0002 a0002c0002t0001 a0002c0002t0005 others(2): Show a0001c0003t0002 a0002c0002t0001 a0002c0002t0005 a0002c0002t0012 a0002c0008t0001	a0001c0003t0002g0093 a0002c0002t0001g0019 a0002c0002t0001g0277 others(12): Show a0001c0003t0002g0093 a0002c0002t0001g0019 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0288 a0002c0002t0005g0276 a0002c0002t0012g0275 a0002c0008t0001g0187	15	294	0.0510	390	c.-70 others(407): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATTTATATTATATATAATATATTAATATATTTATATTA TATATAATATATATAATATATTTATATTATATATAATATATAATATATTT ATATTTATATATAATATATAATATATTTATATTTATATAATATATAATAT ATTTATATTTATATAATATATAATATATTTATATTTATATATATAATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTATATA TAATATATATAATATATTTATATTTATGTATAATATATATAATATATTTA TATTTATGTATAATATATATAATATATTTATATTATATATAATATATATA ATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(383): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTAATATATTATATATAATATAAATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00735.hp2 others(25): Show HG00140.hp2 HG00558.hp1 HG00735.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01884.hp1 HG02040.hp1 HG02083.hp1 HG02148.hp2 HG03654.hp2 HG04184.hp2 NA18946.hp2 NA18954.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19054.hp2 NA19067.hp2 NA19070.hp1 NA19075.hp1 NA19080.hp1 NA19087.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0011 a0002c0002 a0002c0004 a0002c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0004t0001 a0002c0011t0001	a0002c0002t0001g0008 a0002c0002t0001g0089 a0002c0002t0001g0090 others(24): Show a0002c0002t0001g0008 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0270 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0299 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0312 a0002c0002t0002g0261 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0301 a0002c0002t0002g0304 a0002c0002t0002g0333 a0002c0002t0006g0332 a0002c0004t0001g0253 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0011t0001g0265 a0002c0011t0001g0294	28	159	0.1761	390	c.-70 others(407): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA ATATATTTATATTTATATATAATATATAATATATTTATATTTATATAATA TATAATATATTTATATTTATATAATATATAATATATTTATATTTATATAT AATATATATAATATATTTATATTTATATATAATATATATAATATATTTAT ATTATATATAATATATATAATATATTTATATTTATGTATAATATATATAA TATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMYD3_chr1_245744347_246512279	246233843	A A	AGTGATGA others(383): Show AGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAATTCACACTG TGATGAACATATACCACGCAGAGGAGAAACGCTCCTTCAATTCACACTGT GATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATTCACACTGTG ATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATCCACACTGTGA TGAACATATACCACACAGAGGAGAAGCACTCCTTCAATTCACACTGTGAT GAACATATACCACACAGAGGAGAAGCACTCCTTCAATCCACACTGTGATG AATATATACCACACAGAGGAGAAGCACTCCTCAATTCACACTGTGATGAA CATATAACACACAGAGGAGAAGCGCTCCTTCAATTCACACT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	121	0.0083	390	c.531 others(409): Show c.531+93357_531+93358insAGTGTGAATTGAAGGAGCGCTTCTCC TCTGTGTGTTATATGTTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTC TGTGTGGTATATATTCATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCT GTGTGGTATATGTTCATCACAGTGTGAATTGAAGGAGTGCTTCTCCTCTG TGTGGTATATGTTCATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCTGT GTGGTATATGTTCATCACAGTGTGAATTGAAGGAGTGCTTCTCCTCTGTG TGGTATATGTTCATCACAGTGTGAATTGAAGGAGCGTTTCTCCTCTGCGT GGTATATGTTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGG TATATGTTCATCAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246233879	C C	CTCAATTC others(383): Show CTCAATTCACACTGTGATGAACATATACCACGCAGAGGAGAAACGCTCCT TCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTT CAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTC AATCCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCA ATTCACACTGTGATGAACATATACCACACAGAGAAGAAGCACTCCTCAAT TCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATC CACACAGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAATTCA CACTGTGATGAACATATACCACGCAGAGGAGAAACGCTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03471.hp1 HG02647.hp2 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0127 a0002c0005t0001g0113 a0002c0003t0001g0127 a0002c0005t0001g0113	2	98	0.0204	390	c.531 others(409): Show c.531+93321_531+93322insAGGAGCGTTTCTCCTCTGCGTGGTAT ATGTTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATAT GTTCATCACTGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATG TTCATCACAGTGTGAATTGAGGAGTGCTTCTTCTCTGTGTGGTATATGTT CATCACAGTGTGAATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTC ATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCA TCACAGTGTGAATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCAT CACAGTGTGAATTGAAGGAGCGTTTCTCCTCTGCGTGGTATATGTTCATC ACAGTGTGAATTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(383): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTC CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18970.hp1 HG02922.hp2 NA18970.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0101 a0006c0009t0001g0129 a0001c0001t0001g0101 a0006c0009t0001g0129	2	61	0.0328	390	c.72+ others(407): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(383): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02015.hp2 HG02717.hp1 others(5): Show HG01169.hp2 HG02015.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0005c0006 a0005c0015 others(1): Show a0001c0002 a0005c0006 a0005c0015 a0006c0010	a0001c0002t0001 a0005c0006t0001 a0005c0015t0001 others(1): Show a0001c0002t0001 a0005c0006t0001 a0005c0015t0001 a0006c0010t0001	a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0082 others(5): Show a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0015t0001g0153 a0006c0010t0001g0008	8	67	0.1194	390	c.72+ others(407): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221811	C C	CTGTCTCT others(383): Show CTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCT GTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGT GTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTT TTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCT CTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCT GTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGT CTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCT GCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0155 a0002c0022t0001g0155	1	174	0.0057	390	c.719 others(409): Show c.719+12582_719+12583insGTCTCTGTCTCTAGCTCTGCCTCTGT TAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGC CTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCT GTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCAT CTGCCTCTCTCTGTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCC CTCTCTGTCTCTGTCTCTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCT CTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCT CTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCT TTCAGTCTCTGGTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827232	A A	AACATATA others(383): Show AACATATATTATAGTTTATATAATATATAAACATATAGTTTATATAATAT ATAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	299	0.0033	390	c.12+ others(405): Show c.12+3822_12+3823insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(383): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAAGGGGGAAGGGGAGGGGGAGGTG GGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAA GCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAG GGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGG GGAGGGGATATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0019 a0004c0005t0019	a0004c0005t0019g0176 a0004c0005t0019g0176	1	12	0.0833	390	c.34 others(399): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTT CCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCC CCTCCCACCTCCCCCTCCCCTTCCCCCTTCCCCCTCCCCCTCCCCCTCCC ACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTC CCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852618	C C	CCCATGGC others(383): Show CCCATGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCT CCCTCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCAT GGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTTC CATCCTCCCTCCACCCCCCAGATCCCCTGGCCCATCTTCCGTCCTCTCCC CACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGA TCCCCTGGCCCATCTTCCGTCCTCCCCCCACCCCCCATATT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0009 a0001c0009t0001g0009	1	354	0.0028	390	c.646 others(407): Show c.646-1666_646-1665insATGGCCCATCTTCCATCCTCCCTCCACC CCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCC ATGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCATGGCCCATCT TCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCG GATCCCCTGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCCTGGC CCATCTTCCGTCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCAT CCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCGTCCTCCCCCCAC CCCCCATATTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(383): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGG GGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGG GAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGG GGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGA GGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	6	0.1667	390	c.138 others(409): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCC TCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT TCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(383): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGAGGG GGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGG GGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGG GGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	6	0.1667	390	c.138 others(409): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCT CCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT TCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGGAGGGA others(383): Show GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGAGAGGGAGG GAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGAGGGA GAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGA GGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAG AGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAG GGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAG GGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGG AGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0001 a0002c0045t0001	a0002c0045t0001g0103 a0002c0045t0001g0103	1	126	0.0079	390	c.22 others(401): Show c.2270_*2271insGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAG GGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGA GAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACA GGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGA GGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAG ATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGG GAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGG GAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1888		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(383): Show GATTATAAATATAATCATATATAATATATGATTATAAAATATAATCATAT ATTATATATGATTATAAAATATAATTATATATTATATATATTATAAAATA TAATTATATATTATATATGATTATAAAATATAATTATATATATTATATAT GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATAATATATGATTATAAAATATAATTATATATATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	9	0.1111	390	c.75 others(401): Show c.7501_*7502insATTATAAATATAATCATATATAATATATGATTAT AAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTAT ATATATTATAAAATATAATTATATATTATATATGATTATAAAATATAATT ATATATATTATATATGATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATAATATATGATTATAAAATATAATTATATATAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(383): Show TTATATATACTTATATAAGTATGTGTATATATACTTATATATACACATAC TTATATATACTTATATAAGTATGTGTATATATACTTATATATACACATAC TTATATATACTTATATAAGTATGTGTATATATACGTATATATATACTTAT ATAAGTATATATATAAGTATATATATACTTATATATATACTTATATAAGT ATATATATACGTATATATATAAGTATATATATACTTATATAAGTATATAT ATACGTGTATATATATAAGTATATATATACTTATATAAGTATATATATAC TTATATATATACGTATATATATACTTATATATACGTATATATATACACTT ATATATATATACACGTATATATATACTTATATATACGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0021 a0021	a0021c0165 a0021c0165	a0021c0165t0008 a0021c0165t0008	a0021c0165t0008g0006 a0021c0165t0008g0006	1	198	0.0051	390	c.982 others(407): Show c.9823-755_9823-754insTATACGTATATATAAGTATATATATACG TGTATATATATATAAGTGTATATATATACGTATATATAAGTATATATATA CGTATATATATAAGTATATATATACTTATATAAGTATATATATACTTATA TATATACACGTATATATATACTTATATAAGTATATATATACTTATATATA TACGTATATATATACTTATATAAGTATATATATAAGTATATATATACTTA TATATATACTTATATAAGTATATATATACGTATATATACACATACTTATA TAAGTATATATAAGTATGTGTATATATAAGTATATATACACATACTTATA TAAGTATATATAAGTATGTGTATATATAAGTATATATACACATACTTATA TAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(383): Show TTATATATACTTATATAAGTATGTGTATATATACTTATATATACACATAC TTATATATACTTATATAAGTATGTGTATATATACTTATATATACACATAC TTATATATACTTATATAAGTATGTGTATATATACGTATATATATACTTAT ATAAGTATATATATAAGTATATATATACTTATATATATACTTATATAAGT ATATATATACGTATATATATAAGTATATATATACTTATATAAGTATATAT ATATGTGTATATATATAAGTATATATATACTTATATAAGTATATATATAC TTATATATATACGTATATATATACTTATATATACGTATATATATACACTT ATATATATATACACGTATATATATACTTATATATACGTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0048 a0048	a0048c0050 a0048c0050	a0048c0050t0004 a0048c0050t0004	a0048c0050t0004g0120 a0048c0050t0004g0120	1	198	0.0051	390	c.982 others(407): Show c.9823-755_9823-754insTATACGTATATATAAGTATATATATACG TGTATATATATATAAGTGTATATATATACGTATATATAAGTATATATATA CGTATATATATAAGTATATATATACTTATATAAGTATATATATACTTATA TATATACACATATATATATACTTATATAAGTATATATATACTTATATATA TACGTATATATATACTTATATAAGTATATATATAAGTATATATATACTTA TATATATACTTATATAAGTATATATATACGTATATATACACATACTTATA TAAGTATATATAAGTATGTGTATATATAAGTATATATACACATACTTATA TAAGTATATATAAGTATGTGTATATATAAGTATATATACACATACTTATA TAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYNE2_chr14_63848004_64231433	64038286	G G	GGGCCGGG others(383): Show GGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGAGATGGCGGCCGGGCA GAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CCTCCCAGACGATGGGCGGCCCGGCAGAGACGCTCCTCACTTCCCAGACG GGGCGGTTGCCAGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGG GCAGAGACGCTCCTCATCTCCCAGACGGGGGTCCCGGCCGGGCAGAGGCG CTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGACGCTCCCCACATCTC AGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGACGGGATGG TGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG04228.hp2 HG02293.hp2 HG04228.hp2	a0004 a0059 a0004 a0059	a0004c0003 a0059c0074 a0004c0003 a0059c0074	a0004c0003t0003 a0059c0074t0002 a0004c0003t0003 a0059c0074t0002	a0004c0003t0003g0052 a0059c0074t0002g0022 a0004c0003t0003g0052 a0059c0074t0002g0022	2	43	0.0465	390	c.722 others(409): Show c.7221+7059_7221+7060insGCTCCTCACTTCCCAGACGGGGCGGT TGCCAGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGA CGCTCCTCATCTCCCAGACGGGGGTCCCGGCCGGGCAGAGGCGCTCCTCA CATCCCAGACGGGGCGGCGGGGCAGAGACGCTCCCCACATCTCAGACGAT GGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGACGGGATGGTGGCCGG GAAGAGGCGCTCCTCACTTCCTAGATGGGATGGTGGCCGGGAAGAGGCGC TCCTCACTTCCTAGATGAGATGGCGGCCGGGCAGAGACGCTCCTCACTTT CCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACCTCCCAGACGATGGGC GGCCCGGCAGAGAC	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	45/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64038286	G G	GGGCCGGG others(383): Show GGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGAGATGGCGGCCGGGCA GAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGTCTCCTCA CCTCCCAGACGATGGGCGGCCCGGCAGAGACGCTCCTCACTTCCCAGACG GGGCGGTTGCCAGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGG GCAGAGACGCTCCTCATCTCCCAGACGGGGGTCCCGGCCGGGCAGAGGCG CTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGACGCTCCCCACATCTC AGACGATGGGCAGCCGGGCAGAGACGCTCCTCACTTCCTAGACGGGATGG TGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0006 a0010c0006t0006	a0010c0006t0006g0058 a0010c0006t0006g0058	1	42	0.0238	390	c.722 others(409): Show c.7221+7020_7221+7021insTCTCCTCACCTCCCAGACGATGGGCG GCCCGGCAGAGACGCTCCTCACTTCCCAGACGGGGCGGTTGCCAGGCGGA GGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCATC TCCCAGACGGGGGTCCCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACG GGGCGGCGGGGCAGAGACGCTCCCCACATCTCAGACGATGGGCAGCCGGG CAGAGACGCTCCTCACTTCCTAGACGGGATGGTGGCCGGGAAGAGGCGCT CCTCACTTCCTAGATGGGATGGTGGCCGGGAAGAGGCGCTCCTCACTTCC TAGATGAGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGC AGCCAGGCAGAGGG	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	45/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64038434	C C	CGGGGCGG others(383): Show CGGGGCGGTTGCCAGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCC GGGCAGAGACGCTCCTCATCTCCCAGACGGGGTCCCGGCCGGGCAGAGGC GCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGACGCTCCCCACATCT CAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGACGGGATG GTGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGTGGCCGGGA AGAGGCGCTCCTCACTTCCTAGATGAGATGGCGGCCGGGCAGAGACGCTC CTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACCTCCCAGA CGATGGGCGGCCCGGCAGAGACACTCCTCACTTCCCAGACG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0056 a0056	a0056c0073 a0056c0073	a0056c0073t0003 a0056c0073t0003	a0056c0073t0003g0019 a0056c0073t0003g0019	1	145	0.0069	390	c.722 others(409): Show c.7221+7081_7221+7082insCGGTTGCCAGGCGGAGGGTCTCCTCA CTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCATCTCCCAGACGGG GTCCCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGC AGAGACGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCC TCACTTCCTAGACGGGATGGTGGCCGGGAAGAGGCGCTCCTCACTTCCTA GATGGGATGGTGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGAGATGG CGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAG GGGCTCCTCACCTCCCAGACGATGGGCGGCCCGGCAGAGACACTCCTCAC TTCCCAGACGGGGG	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	45/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(383): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGGG AGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03710.hp1 HG01515.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0004 a0001c0001t0045 a0001c0002t0004	a0001c0001t0045g0224 a0001c0002t0004g0253 a0001c0001t0045g0224 a0001c0002t0004g0253	2	109	0.0183	390	c.-18 others(409): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCT CTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(383): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGG AGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0235 a0001c0002t0004g0235	1	108	0.0093	390	c.-18 others(409): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCT CTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(383): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGG AGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0151 a0001c0002t0008g0151	1	108	0.0093	390	c.-18 others(409): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCT CTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(383): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGG AGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0131 a0001c0002t0008g0131	1	108	0.0093	390	c.-18 others(409): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCT CTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(383): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGG AGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0043 a0001c0003t0003g0043	1	108	0.0093	390	c.-18 others(409): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCT CTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TENM4_chr11_78647829_79446030	79139352	T T	TAAATATA others(383): Show TAAATATATAAAACATATATTATATTTCTACAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATATAT TATATTTATAGAAATATATAAAATATATATTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0011 a0006c0010 a0001c0011 a0006c0010	a0001c0011t0047 a0006c0010t0009 a0001c0011t0047 a0006c0010t0009	a0001c0011t0047g0066 a0006c0010t0009g0024 a0001c0011t0047g0066 a0006c0010t0009g0024	2	56	0.0357	390	c.-66 others(407): Show c.-66+9357_-66+9358insCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATA TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTGTAGAAATATAATATATG TTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139592	G G	GAAATATA others(383): Show GAAATATATAAAACATATATTATATTTATAGAAATATATAAAATATATAT TATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATA AAATATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA GAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATATAT TATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATA AAATATATATTATATTTATATAAATATATAAAATATATATTATATTTATA TAAATATATAAAATATATATTATATTTATATAAATATATAAAATATATAT TATATTTATATAAATATATAAAATATATATTATATTTATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0007 a0007	a0007c0047 a0007c0047	a0007c0047t0041 a0007c0047t0041	a0007c0047t0041g0047 a0007c0047t0041g0047	1	42	0.0238	390	c.-66 others(407): Show c.-66+9117_-66+9118insATATAAATATAATATATATTTTATATAT TTATATAAATATAATATATATTTTATATATTTATATAAATATAATATATA TTTTATATATTTATATAAATATAATATATATTTTATATATTTATATAAAT ATAATATATATTTTATATATTTCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATA TTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATAAAT ATAATATATATTTTATATATTTCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATG TTTTATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TMPRSS9_chr19_2355265_2431261	2377590	T T	TCCTCTCC others(383): Show TCCTCTCCCCTCCCCCTCTCCCCCTCCCCTCCTCCCCCCCTCCTCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCT CCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTC CCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCTCTCTCC CCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCC CCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCT CTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0002 a0005c0028t0002	a0005c0028t0002g0065 a0005c0028t0002g0065	1	77	0.0130	390	c.-25 others(409): Show c.-25-12167_-25-12166insTCCCCTCCCCCTCTCCCCCTCCCCTC CTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCT CTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTC TCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCC CTCTTCCCTCCCTCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCC CCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTC CCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTC CCTCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar

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