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
RPA3_chr7_7631518_7723607	7679638	A A	ATTTATAG others(175): Show ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG03834.hp2 others(2): Show HG01109.hp2 HG01175.hp1 HG03834.hp2 HG03927.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0010g0065	5	308	0.0162	182	c.-75 others(201): Show c.-758+6191_-758+6192insCTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATATATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATC TATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	288219	T T	TCTCTCCA others(175): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC GCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	133	0.0075	182	c.352 others(199): Show c.352-6366_352-6365insGGTGCGAGGTCTGACGGTGGAGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAG AGAGCGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGG AGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314422	C C	CATGTAGT others(175): Show CATGTAGTCCCTCTGCCCCCACCTCCATTGACCTGTAGTCTCTATGCCCC CACCTCCATTGACCTGTAGTCCCTATACTCCACGTCCATTGACCTGTAGT CCCTATACTCCACGTCCATTGACCTGTAGTCTCTGTGCCCCACCTCCACT GACAGGCAGTCTCTGTGCTCCACCTCCACTGAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	182	c.351 others(199): Show c.351+4997_351+4998insATCAGTGGAGGTGGAGCACAGAGACTGC CTGTCAGTGGAGGTGGGGCACAGAGACTACAGGTCAATGGACGTGGAGTA TAGGGACTACAGGTCAATGGACGTGGAGTATAGGGACTACAGGTCAATGG AGGTGGGGGCATAGAGACTACAGGTCAATGGAGGTGGGGGCAGAGGGACT ACAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(175): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01081.hp2 HG01167.hp2 others(1): Show HG01071.hp1 HG01081.hp2 HG01167.hp2 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0034 a0003c0003t0036 a0003c0003t0005 a0003c0003t0034 a0003c0003t0036	a0003c0003t0005g0013 a0003c0003t0034g0137 a0003c0003t0036g0077 others(1): Show a0003c0003t0005g0013 a0003c0003t0034g0137 a0003c0003t0036g0077 a0003c0003t0036g0080	4	366	0.0109	182	c.-15 others(193): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(175): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0034 a0001c0054t0034	a0001c0054t0034g0056 a0001c0054t0034g0056	1	196	0.0051	182	c.348 others(201): Show c.348+21631_348+21632insTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(175): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0070 a0001c0073t0002g0070	1	196	0.0051	182	c.348 others(201): Show c.348+21586_348+21587insTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(175): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0313 a0001c0003t0005g0313	1	386	0.0026	182	c.21+ others(197): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(175): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTAT AAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0308 a0001c0001t0018g0308	1	386	0.0026	182	c.21+ others(197): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTATACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(175): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0206 a0001c0002t0002g0206	1	386	0.0026	182	c.21+ others(197): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCLY_chr2_238056001_238104413	238098559	G G	GCATAGGA others(175): Show GCATAGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCACATAGGA CCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGAACCGCCCAC ATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATGGGACC GCCCACATGGGAACGCCCACATAGAACCGCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0150 a0001c0003t0150	a0001c0003t0150g0170 a0001c0003t0150g0170	1	392	0.0026	182	c.21 others(191): Show c.212_*213insCGCCCACATGGGAACGCCCACATGGGAACGCCCACA TAGGACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGAACCG CCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATG GGACCGCCCACATGGGAACGCCCACATAGAACCGCCCACATAGGAC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	213	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098563	A A	AGGACCGC others(175): Show AGGACCGCCCACATAGGAACGCCCACATGGGAACGCCCACATGGGACCGC CCACATGGGAACGCCCACATGGGAACGCCCACATAGGAACGCCCACATAG GAACGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGACCGCCC ACATGGGACCGCCCACATAGAACCGTCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0179 a0005c0007t0179	a0005c0007t0179g0271 a0005c0007t0179g0271	1	392	0.0026	182	c.21 others(191): Show c.212_*213insCGCCCACATAGGAACGCCCACATGGGAACGCCCACA TGGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCACATAGGAACG CCCACATAGGAACGCCCACATGGGAACGCCCACATGGGACCGCCCACATG GGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATGGGAC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	213	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098619	G G	GGGAACGC others(175): Show GGGAACGCCCACATGGGAACGCCCACATAGGAACGCCCACATGGGAACGC CCACATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATAG AACCGTCCACATGGGACCGCCCACATGGGACCGCCCACATAGAACCGTCC ACATAGGACCGCCCACATGGGAACGCCCACATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02647.hp1 HG01891.hp2 HG02280.hp2 HG02647.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0033 a0005c0007t0033	a0005c0007t0033g0284 a0005c0007t0033g0285 a0005c0007t0033g0286 a0005c0007t0033g0284 a0005c0007t0033g0285 a0005c0007t0033g0286	3	392	0.0077	182	c.26 others(191): Show c.267_*268insACGCCCACATGGGAACGCCCACATAGGAACGCCCAC ATGGGAACGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGACC GCCCACATAGAACCGTCCACATGGGACCGCCCACATGGGACCGCCCACAT AGAACCGTCCACATAGGACCGCCCACATGGGAACGCCCACATAGGA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	268	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(175): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03017.hp2 HG03491.hp2 others(2): Show HG02683.hp1 HG03017.hp2 HG03491.hp2 HG03688.hp2 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0015 a0002c0003t0002g0081 a0002c0003t0002g0082 others(2): Show a0002c0003t0002g0015 a0002c0003t0002g0081 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0003t0002g0105	5	290	0.0172	182	c.464 others(195): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288237	T T	TCCCGTGT others(175): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	182	c.166 others(199): Show c.1662+213_1662+214insCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(175): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	290	0.0035	182	c.166 others(199): Show c.1662+239_1662+240insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(175): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0281 a0005c0016t0001g0281	1	290	0.0035	182	c.166 others(200): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289187	C C	CCGTGTCT others(175): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0071 a0007c0006t0001g0071	1	290	0.0035	182	c.166 others(201): Show c.1663-1083_1663-1082insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444506	T T	TATATATA others(175): Show TATATATATACACATATATACGTACGTATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATACG TACGAATATATATACACATATATACGTACGAATATATATACACATATATA CGTACGAATATATATACACATATATACGTACGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp1 HG03688.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0087 a0001c0002t0004g0088 a0001c0002t0004g0087 a0001c0002t0004g0088	2	290	0.0069	182	c.114 others(201): Show c.1140+2252_1140+2253insTCGTACGTATATATGTGTATATATAT TCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATACGTACGTATATATGTGTAT ATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(175): Show ATATATATATATACGTGTATATATATATACGTATATATATATATACGTAT ATATATATATACGTGTATATATATATATACGTATATATATATACGTGTAT ATATATATATACGTATATATATATACGTGTATATATATATATACGTATAT ATATATATACGTGTATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0230 a0003c0001t0001g0230	1	280	0.0036	182	c.11 others(195): Show c.11400_*11401insCACGTATATATATATATATACACGTATATATA TATATACGTATATATATATATACACGTATATATATATACGTATATATATA TATACACGTATATATATATACGTATATATATATATACACGTATATATATA TATACGTATATATATATATACGTATATATATATACACGTATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(175): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATTCCATAT ATATATATATTCCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	324	0.0031	182	c.115 others(199): Show c.115-2706_115-2705insATATATATATATATATATATGGAATATA TATATATATGGAATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(175): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGAAA TGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	134	0.0075	182	c.125 others(201): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTT CCTTTCATTTCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCC TTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCT TTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77485170	T T	TGGGTGAT others(175): Show TGGGTGATGGTGATTGTGGTGGTGGTGAAGGGGGTGATGGTGGTGATTGT GGTGGTGGTAATGGTGATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGT GATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATTGTGATGGGGGTGATGACGGTAATGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	150	0.0067	182	c.914 others(199): Show c.914-2228_914-2227insAAGGGGGTGATGGTGGTGATTGTGGTGG TGGTAATGGTGATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTGATGT GGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTG ATTGTGATGGGGGTGATGACGGTAATGGGGGTGATGGTGATTGTGGTGGT GGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGCZ_chr8_14079845_15243431	14101438	T T	TAAAAATG others(175): Show TAAAAATGTGATTCTGCAGATAACAATAATCATGTATACTTATCACTTTA TAGTGGAAAAATAGAACATCAATGACAAAGTATTATTTAAAGCAGACAGC AGGAGAAAAAATAAATGATGTCTGCAGGAGTAGCAACAAGATTTAAAGGA AATTCTTGGGGAATAAAGGTAATATAGAATAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0053 a0001c0001t0073g0053	1	102	0.0098	182	c.744 others(197): Show c.744+937_744+938insTTTATTCTATATTACCTTTATTCCCCAAGA ATTTCCTTTAAATCTTGTTGCTACTCCTGCAGACATCATTTATTTTTTCT CCTGCTGTCTGCTTTAAATAATACTTTGTCATTGATGTTCTATTTTTCCA CTATAAAGTGATAAGTATACATGATTATTGTTATCTGCAGAATCACATTT TT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	7/7			chr8	TogoVar
SGK3_chr8_66707781_66867022	66720613	T T	TACAAAAA others(175): Show TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0014 a0001c0002t0004g0014	1	142	0.0070	182	c.-12 others(201): Show c.-122+7781_-122+7782insCAAAAAATTAGCCGGGCGTGGTAGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH3BP4_chr2_234947017_235060714	235010852	C C	CCCTCTCC others(175): Show CCCTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCC TTCTCCAAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCCCTCTC CTAGGAGAACCTTTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGG AGAACCCTTCCTCCCTCTCCTAGGAGAACCCTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0137 a0002c0001t0002g0137	1	348	0.0029	182	c.-13 others(203): Show c.-133+15491_-133+15492insCCCTTCCTCCCTCTCCTAGGAGAA CCCTTCCTCCTTCTCCAAGGAGAACCCTTCCTCCCTCTCCTAGAACCCTT CTTCCCTCTCCTAGGAGAACCTTTCCTCCCTCTCCTAGAACCCTTCCTCA CTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCTCC TAGGAGAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF1_chr4_169089259_169275956	169178281	T T	TAAATAAG others(175): Show TAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTATTTA AAAAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTATT TAAAAAAATAAGCAACTATGCTTATTTAAAAAAATAAGCAACTATGCTTA TTTAAAAAAATAAGCAACTATGCTTATTTAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0035 a0004c0011t0002g0035	1	216	0.0046	182	c.394 others(201): Show c.394-21603_394-21602insTTTTAAATAAGCATAGTTGCTTATTT TTTTAAATAAGCATAGTTGCTTATTTTTTTAAATAAGCATAGTTGCTTAT TTTTTTAAATAAGCATAGTTGCTTATTTTTTTAAATAAGCATAGTTGCTT ATTTTTTTAAATAAGCATAGTTGCTTATTTTTTTAAATAAGCATAGTTGC TTATTT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGAA others(175): Show GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC AGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02074.hp2 HG03654.hp1 others(1): Show HG01981.hp1 HG02074.hp2 HG03654.hp1 HG03831.hp1	a0001 a0016 a0001 a0016	a0001c0002 a0016c0029 a0001c0002 a0016c0029	a0001c0002t0001 a0001c0002t0009 a0016c0029t0001 a0001c0002t0001 a0001c0002t0009 a0016c0029t0001	a0001c0002t0001g0139 a0001c0002t0009g0175 a0001c0002t0009g0194 others(1): Show a0001c0002t0001g0139 a0001c0002t0009g0175 a0001c0002t0009g0194 a0016c0029t0001g0204	4	316	0.0127	182	c.257 others(201): Show c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCA TCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACAC CCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCT TCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(175): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0110 a0001c0001t0024g0110	1	214	0.0047	182	c.691 others(201): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTC CCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(175): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0189 a0001c0001t0007g0189	1	214	0.0047	182	c.691 others(201): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(175): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp2 others(4): Show HG00099.hp1 HG00140.hp1 HG00558.hp2 HG01070.hp1 HG01496.hp1 HG02129.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0030 a0001c0001t0032 others(4): Show a0001c0001t0002 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0042 a0001c0001t0096 a0001c0003t0022	a0001c0001t0002g0063 a0001c0001t0030g0013 a0001c0001t0032g0062 others(4): Show a0001c0001t0002g0063 a0001c0001t0030g0013 a0001c0001t0032g0062 a0001c0001t0035g0140 a0001c0001t0042g0027 a0001c0001t0096g0103 a0001c0003t0022g0160	7	214	0.0327	182	c.691 others(201): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTC CCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(175): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00438.hp2 HG00609.hp1 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0075 a0001c0001t0003 a0001c0001t0017 a0001c0001t0075	a0001c0001t0003g0034 a0001c0001t0017g0209 a0001c0001t0075g0017 a0001c0001t0003g0034 a0001c0001t0017g0209 a0001c0001t0075g0017	3	214	0.0140	182	c.691 others(201): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTC CCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A1_chr15_48201302_48309078	48270760	A A	ATATATAT others(175): Show ATATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT TTATACACACATATATATACATACACATATATATATACACACACACACAG AGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0070 a0002c0003t0003g0070	1	266	0.0038	182	c.240 others(201): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA TATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270762	A A	ATATATAT others(175): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTATATATATATATATATATATATATATATATATATATATATATAT TTATACACACATATATATACATACACATATATATATACACACACACACAG AGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	266	0.0038	182	c.240 others(201): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATATATATTTATACACACATATATATACATACACATATATATATA CACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATA TATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(175): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT TTATACACACATATATATACATACACATATATATATACACACACACACAG AGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18994.hp1 NA19063.hp2 HG00609.hp1 NA18994.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0215 a0001c0001t0002g0225 a0001c0001t0002g0204 a0001c0001t0002g0215 a0001c0001t0002g0225	3	266	0.0113	182	c.240 others(201): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATATATATATTTATACACACATATATATACATACACATATATATA TACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTA TATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(175): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATAT TTATACACACATATATATACATACACATATATATATACACACACACACAG AGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18747.hp2 HG03195.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0002g0202 a0001c0001t0001g0028 a0001c0001t0002g0202	2	266	0.0075	182	c.240 others(201): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA TATATATATATATATTTATACACACATATATATACATACACATATATATA TACACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTA TATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(175): Show ATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT TTATACACACATATATATACATACACATATATATATACACACACACACAG AGTTTTGGAGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02486.hp2 others(2): Show HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02809.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0012 a0001c0001t0006g0014 a0001c0001t0007g0038 others(2): Show a0001c0001t0006g0012 a0001c0001t0006g0014 a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0158	5	266	0.0188	182	c.240 others(201): Show c.2402+1012_2402+1013insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATATATATATTTATACACACATATATATACATACACATATATATATA CACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATA TATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC22A23_chr6_3263973_3462050	3402417	G G	GACCCCAA others(175): Show GACCCCAATTACCCACACTACCCAGAGCGCACTAGGCCCCAGCTGACACC ACAATCACCCACACTACCCAGAGTGCACTAGGCTCCAGCTGACACCACAA TCACCCACACTACCCAGAGCGCACTAGGCTCCAGCTGACACCACAATCAC CCACACTACCCAGAGTGCACTAGGCCCCAGCCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp2 HG01175.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0133 a0001c0001t0003g0002 a0001c0001t0001g0133 a0001c0001t0003g0002	2	222	0.0090	182	c.913 others(199): Show c.913+7770_913+7771insTGGCTGGGGCCTAGTGCACTCTGGGTAG TGTGGGTGATTGTGGTGTCAGCTGGAGCCTAGTGCGCTCTGGGTAGTGTG GGTGATTGTGGTGTCAGCTGGAGCCTAGTGCACTCTGGGTAGTGTGGGTG ATTGTGGTGTCAGCTGGGGCCTAGTGCGCTCTGGGTAGTGTGGGTAATTG GGGT	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(175): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0052 a0001c0002t0015g0052	1	386	0.0026	182	c.563 others(199): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA GGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(175): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0145 a0002c0003t0006g0145	1	386	0.0026	182	c.563 others(199): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAA GGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC44A5_chr1_75197129_75616114	75280309	A A	AATCTATA others(175): Show AATCTATATATTGTATATATTATATATTGTATATATAATCTATATATTGT ATATATTATATATTGTATATATAATCTATATATTGTATATATTATATATT GTATATATAATCTATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0095 a0001c0006t0002g0095	1	156	0.0064	182	c.176 others(199): Show c.176-5268_176-5267insATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATAGATTATA TATACAATATATAATATATACAATATATAGATTATATATACAATATATAA TATATACAATATATAGATTATATATACAATATATAATATATACAATATAT AGAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1229907	A A	AAGGGAAG others(175): Show AAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCT GTCACGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCAGGTGCAGGCT GGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGAGC GAAGAAGGGCTCTAACGGTACAGGCTGGAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp1 others(23): Show HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02523.hp1 HG02559.hp1 HG02647.hp1 HG02922.hp2 HG03017.hp2 HG03490.hp2 HG03540.hp1 NA18985.hp2 NA19043.hp2 NA19084.hp1 NA19085.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0002 a0003c0004 a0005c0006 others(2): Show a0001c0002 a0003c0004 a0005c0006 a0008c0022 a0008c0050	a0001c0002t0002 a0003c0004t0001 a0005c0006t0003 others(3): Show a0001c0002t0002 a0003c0004t0001 a0005c0006t0003 a0008c0022t0003 a0008c0022t0004 a0008c0050t0004	a0001c0002t0002g0089 a0001c0002t0002g0171 a0001c0002t0002g0173 others(19): Show a0001c0002t0002g0089 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0172 a0005c0006t0003g0009 a0005c0006t0003g0034 a0005c0006t0003g0035 a0005c0006t0003g0258 a0005c0006t0003g0260 a0005c0006t0003g0262 a0005c0006t0003g0263 a0005c0006t0003g0265 a0005c0006t0003g0266 a0005c0006t0003g0267 a0005c0006t0003g0268 a0008c0022t0003g0259 a0008c0022t0004g0261 a0008c0050t0004g0264	26	456	0.0570	182	c.161 others(199): Show c.161-2243_161-2242insTGGGGGAAGAAGAGCTCTCAGGTGCAGG CTGGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGA GCGAAGAAGGGCTCTAACGGTACAGGCTGGAGGGGAGGGAAGAAGGGCTC TCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTGTCACGGTGCAGGCTG GAGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1229907	A A	AAGGGAAG others(175): Show AAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCT GTCACGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCAGGTGCAGGCT GGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGAGC GAAGAAGGGCTCTAACGGTACAGGCTGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp1 others(25): Show HG00099.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02647.hp2 HG02922.hp2 HG03017.hp1 HG03490.hp1 HG03540.hp2 NA18956.hp2 NA18985.hp1 NA19043.hp2 NA19084.hp1 NA19085.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0002t0004 a0001c0002t0008 a0001c0002t0025 a0002c0003t0003 a0002c0003t0008 a0002c0003t0009 a0002c0003t0017	a0001c0001t0003g0283 a0001c0001t0003g0321 a0001c0001t0004g0202 others(20): Show a0001c0001t0003g0283 a0001c0001t0003g0321 a0001c0001t0004g0202 a0001c0001t0008g0054 a0001c0001t0008g0157 a0001c0001t0008g0161 a0001c0001t0008g0213 a0001c0001t0008g0300 a0001c0001t0008g0323 a0001c0001t0010g0023 a0001c0001t0010g0262 a0001c0002t0004g0152 a0001c0002t0008g0234 a0001c0002t0008g0320 a0001c0002t0008g0363 a0001c0002t0008g0373 a0001c0002t0025g0358 a0002c0003t0003g0256 a0002c0003t0008g0252 a0002c0003t0008g0366 a0002c0003t0008g0371 a0002c0003t0009g0002 a0002c0003t0017g0356	28	458	0.0611	182	c.80 others(193): Show c.8003_*8004insAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGGG GAGGGAAGAAGGGCTGTCACGGTGCAGGCTGGAGGTGGGGGAAGAAGAGC TCTCAGGTGCAGGCTGGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCAC AGGCTGGAGGGGAGCGAAGAAGGGCTCTAACGGTACAGGCTGGAGGGG	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding		4797		chr5	TogoVar
SLC7A10_chr19_33203664_33230850	33218683	T T	TTCTTTCT others(175): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	410	0.0024	182	c.152 others(199): Show c.152-2711_152-2710insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGA AAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29559070	G G	GGGGGAGA others(175): Show GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTG ACGGGGAGTGAATGTGAGTGACGGGGAGTGAATGTGAGTGACGGGGAGTG AATGTGAGTGAGGGGGGAGTGAATGTGAGTGAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0235 a0001c0001t0040g0235	1	330	0.0030	182	c.-11 others(201): Show c.-114-5211_-114-5210insGTCACTCACATTCACTCCCCCCTCAC TCACATTCACTCCCCGTCACTCACATTCACTCCCCGTCACTCACATTCAC TCCCCGTCACTCACATTCACTCCCCCCTCACTCACATTCACTCCCCCTCA CTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCT CTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	487414	C C	CACACTGA others(175): Show CACACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACC CACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGAC ACCCACCACACTGACACCCACCGCACTGACACCGTGATCCCGACCGCACT GACACCCACCGCACTGACACCGTGATCCCGACT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0007 a0001c0027t0007	a0001c0027t0007g0136 a0001c0027t0007g0136	1	218	0.0046	182	c.675 others(197): Show c.675+901_675+902insAGTCGGGATCACGGTGTCAGTGCGGTGGGT GTCAGTGCGGTCGGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGTGGTG GGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCG GTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTGGGTGTCAGT GT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	487430	A A	ACACTGAC others(175): Show ACACTGACACCGTGATCCAGACCGCACTGACACCCACCGCACTGACACCG TGATCCAGACCGCACTGACACCCACCACACTGACACCCACCACACTGACA CCCACCGCACTGACACCGTGATCCCGACCGCACTGACACCCACCGCACTG ACACCGTGATCCCGACTGCACTGACACCCACCG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0007 a0008c0023t0007	a0008c0023t0007g0147 a0008c0023t0007g0147	1	218	0.0046	182	c.675 others(197): Show c.675+885_675+886insCGGTGGGTGTCAGTGCAGTCGGGATCACGG TGTCAGTGCGGTGGGTGTCAGTGCGGTCGGGATCACGGTGTCAGTGCGGT GGGTGTCAGTGTGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGA TCACGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAG TG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92047039	T T	TAAATATA others(175): Show TAAATATATATATAATATATAAATATATATATATAAATATATATATAATA TATAAATATATATATATAAATATATATAATATATAAATATATATATAAAT ATATAATATATAAATATATATACAAATATATATATAATATATAAATATAT ACAAATATATATATAATATATAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0148 a0001c0007t0002g0148	1	190	0.0053	182	c.647 others(201): Show c.647-47812_647-47811insTATAAATATATATATAATATATAAAT ATATATATATAAATATATATAATATATAAATATATATATAAATATATAAT ATATAAATATATATACAAATATATATATAATATATAAATATATACAAATA TATATATAATATATAAATATATATACAAATATATATATAATATATAAATA TATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047072	A A	AATATATA others(175): Show AATATATATATAATATATAAATATATATATATAAATATATATAATATATA AATATATATATAAATATATAATATATAAATATATATACAAATATATATAT AATATATAAATATATACAAATATATATATAATATATAAATATATATACAA ATATATATATAATATATAAATATATATACAAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0165 a0001c0001t0050g0165	1	190	0.0053	182	c.647 others(201): Show c.647-47800_647-47799insTAATATATAAATATATATATATAAAT ATATATAATATATAAATATATATATAAATATATAATATATAAATATATAT ACAAATATATATATAATATATAAATATATACAAATATATATATAATATAT AAATATATATACAAATATATATATAATATATAAATATATATACAAATATA TATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(175): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	150	0.0067	182	c.165 others(201): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGC GTTGTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221793	G G	GCCTCTCT others(175): Show GCCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCT CTTTTTCTCTCTGTCTCTGTCTCTATCTCTGTCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCT GCCTATCTCTGTCTTTCTGTCTCTCTTTTTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG03486.hp2 HG02486.hp1 HG03453.hp1 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0002 a0003c0007t0001 a0003c0007t0002	a0003c0007t0001g0008 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0007t0001g0008 a0003c0007t0002g0075 a0003c0007t0002g0077	3	190	0.0158	182	c.719 others(201): Show c.719+12563_719+12564insCCTCTCTCTGTCTCTCTCTGTCTCTC TCTGTCTCTGCCTATCTCTGTCTCTTTTTCTCTCTGTCTCTGTCTCTATC TCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTC TCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTTTCTGTCTCTCTT TTTCTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar

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