Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(32): Show GACACACACGACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0078 a0001c0002t0029g0078	1	157	0.0064	39	c.149 others(56): Show c.1491+231_1491+232insGACACACACACACACACACACACACACA CACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143449592	T T	TATAATAA others(32): Show TATAATAATTATATAATTATATAAAATATAATTATATAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0020 a0001c0010t0020	a0001c0010t0020g0034 a0001c0010t0020g0034	1	102	0.0098	39	c.146 others(60): Show c.1469+17444_1469+17445insTTTATATAATTATATTTTATATAA TTATATAATTATTAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01346.hp1 HG01257.hp1 HG01346.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0001 a0003c0008t0001 a0001c0002t0001 a0003c0008t0001	a0001c0002t0001g0098 a0003c0008t0001g0126 a0001c0002t0001g0098 a0003c0008t0001g0126	2	42	0.0476	39	c.646 others(58): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(32): Show TAGATAGATGATAGATAGATTGATTGATTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0180 a0001c0002t0053g0180	1	96	0.0104	39	c.647 others(58): Show c.647-78627_647-78626insAGATAGATGATAGATAGATTGATTGA TTAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666115	C C	CCCCGCCC others(32): Show CCCCGCCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0086 a0001c0001t0002g0049 a0001c0001t0002g0086	2	349	0.0057	39	c.127 others(56): Show c.1277-263_1277-262insCGCCCCCCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLF2_chr10_100907963_100970134	100967812	G G	GCCCCCCC others(32): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	47	0.0213	39	c.59 others(50): Show c.5900_*5901insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CACCC	SLF2	ENSG00000119906.13	transcript	ENST00000238961.9	protein_coding		2679		chr10	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(32): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03017.hp1 HG02083.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0053 a0001c0001t0002g0024 a0001c0001t0002g0053	2	242	0.0083	39	c.150 others(58): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01346.hp1 HG01934.hp1 others(13): Show HG00673.hp2 HG01346.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02148.hp2 HG02273.hp1 HG03098.hp2 NA18998.hp1 NA19004.hp2 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024	16	365	0.0438	39	c.-37 others(50): Show c.-3746_-3745insATCTATCTATCTATCTATCTATCTATCTATCTAT CTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258292	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	369	0.0027	39	c.-37 others(50): Show c.-3750_-3749insATCTATCTATCTATCTATCTATCTATCTATCTAT CTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3729		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	31	0.0323	39	c.299 others(58): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLURP1_chr8_142735949_142747406	142740551	G G	GCCCAGGT others(32): Show GCCCAGGTGCACACACCCAGGAAGACCCCTTGGGCTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	39	c.59 others(48): Show c.591_*592insGCCCAGCCCAAGGGGTCTTCCTGGGTGTGTGCACCT GGG	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding		397		chr8	TogoVar
SMAD2_chr18_47803957_47935659	47850216	A A	ATATGTAT others(32): Show ATATGTATAATATATATTATATATTATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0226 a0001c0001t0226	a0001c0001t0226g0050 a0001c0001t0226g0050	1	307	0.0033	39	c.784 others(56): Show c.784+1019_784+1057dupATATATATAATATATAATATATAATATA TATTATACATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850282	A A	ATATATAT others(32): Show ATATATATTATATATATTATGTATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp2 NA18960.hp1 others(5): Show HG03942.hp2 HG04115.hp2 NA18960.hp1 NA18986.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0152 a0001c0001t0169 others(3): Show a0001c0001t0008 a0001c0001t0152 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0245	a0001c0001t0008g0125 a0001c0001t0008g0147 a0001c0001t0008g0164 others(5): Show a0001c0001t0008g0125 a0001c0001t0008g0147 a0001c0001t0008g0164 a0001c0001t0152g0146 a0001c0001t0169g0133 a0001c0001t0170g0171 a0001c0001t0171g0172 a0001c0001t0245g0127	8	308	0.0260	39	c.784 others(54): Show c.784+991_784+992insATATATAATATATATTATACATAATATATA TAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850481	T T	TTATATAT others(32): Show TTATATATAACATATAATGTATAATATATGTTATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0211 a0001c0001t0105g0211	1	224	0.0045	39	c.784 others(54): Show c.784+792_784+793insTTATATATAACATATATTATACATTATATG TTATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67183000	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0044 a0001c0001t0008g0044	1	173	0.0058	39	c.871 others(56): Show c.871+1547_871+1548insTATATATATATATATATATATATATATA TATATATATAT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8			chr15	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	10	0.1000	39	c.242 others(56): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02622.hp1 HG02886.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0015g0109 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0015g0109	3	74	0.0405	39	c.125 others(56): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(32): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	368	0.0027	39	c.-15 others(58): Show c.-154+7488_-154+7489insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18827507	A A	ATTTTTAT others(32): Show ATTTTTATATATCTTTGGTATAAATATACCAAAATATATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0286 a0001c0002t0002g0286	1	297	0.0034	39	c.974 others(56): Show c.9741+485_9741+523dupAATATATTTTGGTATATTTATACCAAAG ATATATAAAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18827546	T T	TTTTTTAT others(32): Show TTTTTTATATATCTTTGGTATAAATATACCAAAATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG00642.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0003 a0001c0001t0001 a0001c0010t0003	a0001c0001t0001g0067 a0001c0010t0003g0205 a0001c0001t0001g0067 a0001c0010t0003g0205	2	294	0.0068	39	c.974 others(56): Show c.9741+446_9741+484dupTATATATTTTGGTATATTTATACCAAAG ATATATAAAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18827558	C C	CTTTGGTA others(32): Show CTTTGGTATAAATATACCAAAATATATATTTTTATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01952.hp2 HG01981.hp1 others(6): Show HG00280.hp2 HG01952.hp2 HG01981.hp1 HG02109.hp2 HG03139.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0007c0034	a0001c0001t0012 a0001c0001t0015 a0001c0002t0002 others(2): Show a0001c0001t0012 a0001c0001t0015 a0001c0002t0002 a0001c0003t0009 a0007c0034t0001	a0001c0001t0012g0003 a0001c0001t0012g0005 a0001c0001t0015g0004 others(6): Show a0001c0001t0012g0003 a0001c0001t0012g0005 a0001c0001t0015g0004 a0001c0002t0002g0254 a0001c0002t0002g0263 a0001c0003t0009g0296 a0001c0003t0009g0297 a0001c0003t0009g0298 a0007c0034t0001g0105	9	296	0.0304	39	c.974 others(56): Show c.9741+472_9741+473insTATATATAAAAATATATATTTTGGTATA TTTATACCAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMG9_chr19_43722983_43759962	43723493	G G	GCAGCACA others(32): Show GCAGCACAGGGATTGGTGAGAAGGACTTAATGTGGCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0113 a0001c0001t0025g0113	1	318	0.0031	39	c.81 others(50): Show c.8102_*8103insAAGAGCCACATTAAGTCCTTCTCACCAATCCCTG TGCTG	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		4489		chr19	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA19080.hp1 HG00408.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0067 a0001c0001t0001g0002 a0001c0001t0001g0067	2	170	0.0118	39	c.16 others(50): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT TTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	169	0.0059	39	c.16 others(50): Show c.1695_*1696insTATATATATATATATATATATATTTTTTTTTTTT TTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	169	0.0059	39	c.16 others(50): Show c.1695_*1696insTATATATATATATATATATATTTTTTTTTTTTTT TTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	169	0.0059	39	c.16 others(50): Show c.1695_*1696insTATATATATATATATATATTTTTTTTTTTTTTTT TTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMYD1_chr2_88062825_88118384	88065219	T T	TCCCCTCC others(32): Show TCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	307	0.0033	39	c.-26 others(50): Show c.-2646_-2645insCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTC	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2605		chr2	TogoVar
SNRPA1_chr15_101276510_101300248	101290094	A A	AAGGTAAA others(32): Show AAGGTAAACCTCAAGGTAAACAGCAAGGTAAACCTCAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	440	0.0023	39	c.309 others(56): Show c.309+1867_309+1868insCCTTGAGGTTTACCTTGCTGTTTACCTT GAGGTTTACCT	SNRPA1	ENSG00000131876.18	transcript	ENST00000254193.11	protein_coding	3/8			chr15	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(32): Show TTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	34	0.0294	39	c.-10 others(60): Show c.-103+26379_-103+26380insTCTTTTTTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701579	T T	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01192.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0033 a0001c0001t0016 a0001c0001t0033	a0001c0001t0016g0003 a0001c0001t0033g0056 a0001c0001t0016g0003 a0001c0001t0033g0056	2	73	0.0274	39	c.103 others(58): Show c.1039-3015_1039-3014insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	965110	A A	ACCCCAGT others(32): Show ACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0140 a0010c0013t0001g0140	1	144	0.0069	39	c.72+ others(56): Show c.72+14098_72+14136dupTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965362	T T	TCCCCAAT others(32): Show TCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0140 a0010c0013t0001g0140	1	100	0.0100	39	c.72+ others(56): Show c.72+14298_72+14336dupCAATCCTCCTCCTGGTCCCCAGTCCTCC TCCTTGGACCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1362074	G G	GGCTGAGC others(32): Show GGCTGAGCATTTCAGTAGAACTTCCATGAAGGTCACCAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0001 a0010c0029t0001	a0010c0029t0001g0152 a0010c0029t0001g0152	1	139	0.0072	39	c.148 others(58): Show c.1489-5240_1489-5239insGGTCACCAACGCTGAGCATTTCAGTA GAACTTCCATGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX12_chrX_71054247_71073334	71071670	T T	TATATATA others(32): Show TATATATAAATATATTTATATATAAATATATAATATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02809.hp2 others(3): Show HG01884.hp2 HG02145.hp1 HG02809.hp2 HG03041.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0005g0023 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0005g0023 a0001c0001t0005g0066 a0001c0001t0008g0050	6	307	0.0195	39	c.-34 others(50): Show c.-3403_-3365dupCTATATATTATATATTTATATATAAATATATTTA TATAT	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3337		chrX	TogoVar
SNX25_chr4_185204598_185368966	185258633	A A	AAAATTTA others(32): Show AAAATTTAGGACATGGTCACCATACCTAAACGTTCTAGTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	274	0.0036	39	c.515 others(54): Show c.515-213_515-175dupAATTTAGGACATGGTCACCATACCTAAACG TTCTAGTTA	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX27_chr1_151607050_151704080	151681235	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18992.hp1 NA18960.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0239 a0001c0001t0004g0207 a0001c0001t0001g0239 a0001c0001t0004g0207	2	120	0.0167	39	c.115 others(58): Show c.1150-2097_1150-2096insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12476383	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0105 a0001c0003t0055g0105	1	117	0.0085	39	c.203 others(58): Show c.2038-1336_2038-1335insTATATATATATATATATATATATATA CATATATATATAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20			chr16	TogoVar
SNX6_chr14_34556093_34635148	34557496	A A	ATTCTTCT others(32): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0277 a0001c0001t0010g0278 a0001c0001t0010g0277 a0001c0001t0010g0278	2	69	0.0290	39	c.56 others(50): Show c.5625_*5626insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3596		chr14	TogoVar
SNX8_chr7_2246770_2319441	2260098	A A	ATAAGACC others(32): Show ATAAGACCCTTACTGTATTTTTTGCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	368	0.0027	39	c.916 others(56): Show c.916-2296_916-2295insAAAAAAAAAAAAAAAGCAAAAAATACAG TAAGGGTCTTA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	7/10			chr7	TogoVar
SNX9_chr6_157818246_157950077	157827515	A A	ATATATTA others(32): Show ATATATTATAGTTTATATAATATATAAACATATATTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01496.hp1 HG02083.hp1 others(5): Show HG00438.hp1 HG01496.hp1 HG02083.hp1 HG02738.hp1 HG04115.hp1 NA18941.hp1 NA18999.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0120 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0013t0001g0153	8	28	0.2857	39	c.12+ others(54): Show c.12+4073_12+4074insTTATAGTTTATATAATATATAAACATATAT TATATTATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(32): Show GTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0055 a0002c0007t0007g0055	1	223	0.0045	39	c.12+ others(56): Show c.12+21148_12+21149insGTTTTTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(32): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18998.hp2 HG00408.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0014 a0002c0002t0002g0012 a0002c0002t0002g0014	2	224	0.0089	39	c.12+ others(56): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTTTTGTTTTTT TTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	1	191	0.0052	39	c.949 others(56): Show c.949+5616_949+5617insAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19011.hp1 NA18975.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0054 a0002c0002t0002g0030 a0002c0002t0002g0054	2	192	0.0104	39	c.949 others(56): Show c.949+5616_949+5617insAAAAAAAAAAAAATATATATATATATAT ATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	191	0.0052	39	c.949 others(56): Show c.949+5616_949+5617insAAAAAAAAAAATATATATATATATATAT ATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOD3_chr4_24790573_24805842	24797545	A A	AGTATCCC others(32): Show AGTATCCCTATTTACAGATGAGAAAACTGAGGTTCACAGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	464	0.0022	39	c.-17 others(56): Show c.-17+1896_-16-1921dupTATCCCTATTTACAGATGAGAAAACTGA GGTTCACAGGG	SOD3	ENSG00000109610.6	transcript	ENST00000382120.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0163 a0001c0011t0002g0163	1	53	0.0189	39	c.641 others(56): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	107	0.0093	39	c.-46 others(58): Show c.-46+23148_-46+23149insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0083 a0002c0004t0005g0083	1	31	0.0323	39	c.481 others(58): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATATATTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0027 a0001c0028t0027	a0001c0028t0027g0152 a0001c0028t0027g0152	1	31	0.0323	39	c.481 others(58): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar

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