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
SEZ6L_chr22_26164462_26388596	26348748	A A	AGGAAGGG others(39): Show AGGAAGGGAGGGGGAGGGAAGGGGAGGGAAGGAGAGGGGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0232 a0001c0001t0006g0232	1	114	0.0088	46	c.240 others(63): Show c.2407+866_2407+867insAGAGGGGAAAGGGAGGGAAGGGAGGGGG AGGGAAGGGGAGGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582204	T T	TTATATAT others(39): Show TTATATATATATATATGTGTATATATATATATATATATGTGTGTATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0001 a0006c0038t0001	a0006c0038t0001g0038 a0006c0038t0001g0038	1	138	0.0072	46	c.124 others(65): Show c.1249-1670_1249-1669insATATATATATATATGTGTATATATAT ATATATATATGTGTGTATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFSWAP_chr12_131706090_131804738	131795997	G G	GGGGGAGG others(39): Show GGGGGAGGGGAGGGGAGAGGGGGAGGGGAGGGGAGGGGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp2 HG02071.hp1 HG02132.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0020 a0001c0001 a0006c0020	a0001c0001t0001 a0006c0020t0001 a0001c0001t0001 a0006c0020t0001	a0001c0001t0001g0279 a0006c0020t0001g0280 a0001c0001t0001g0279 a0006c0020t0001g0280	2	229	0.0087	46	c.253 others(65): Show c.2535-1165_2535-1164insAGGGGGAGGGGAGGGGAGGGGAGAGG GGGAGGGGAGGGGAGGGGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796025	A A	AGGGGAGG others(39): Show AGGGGAGGGGAGGGGAGGGGAGAGGGGGAGGGGAGGGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19009.hp2 NA19068.hp2 others(1): Show NA18995.hp1 NA19009.hp2 NA19068.hp2 NA19080.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0013 a0001c0001 a0013c0013	a0001c0001t0001 a0013c0013t0001 a0001c0001t0001 a0013c0013t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0142 a0013c0013t0001g0111	4	314	0.0127	46	c.253 others(65): Show c.2535-1137_2535-1136insGGGAGAGGGGGAGGGGAGGGGAGAGG AGAGGGGGAGGGGAGGGGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFTPB_chr2_85652314_85673199	85666423	T T	TTGTGTGT others(39): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCGGCTGGCTGGGGTGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	319	0.0031	46	c.393 others(61): Show c.393+193_393+194insGCACCCCAGCCAGCCGGACACACACACACA CACACACACACACACA	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SFXN3_chr10_101026234_101046241	101044688	A A	ATGAGGGG others(39): Show ATGAGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGATGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	442	0.0023	46	c.51 others(57): Show c.5103_*5104insTGAGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGG ATGGGGGGGGGG	SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding		3448		chr10	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	194	0.0052	46	c.819 others(61): Show c.819-108_819-107insGCGCGCGCACACACACACACACACACACAC ACACACACACACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0078 a0001c0002t0015g0078	1	73	0.0137	46	c.192 others(63): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATATATATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423277	A A	ATATTTTA others(39): Show ATATTTTATTATAATATAATATTATATTATAATATAATATAATATTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG02922.hp2 others(5): Show HG02258.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0036 others(1): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0036 a0001c0001t0042	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0040 others(5): Show a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0066 a0001c0001t0022g0064 a0001c0001t0036g0043 a0001c0001t0042g0065	8	148	0.0541	46	c.192 others(65): Show c.192+78604_192+78605insTTATTATAATATAATATTATATTATA ATATAATATAATATTGTATT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	15012554	A A	ATATATAA others(39): Show ATATATAACATATAAATATATATTTATATAACATATAAATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0026 a0001c0001t0013g0026	1	75	0.0133	46	c.39+ others(65): Show c.39+224985_39+225030dupAATATATATTTATATGTTATATAAAT ATATATTTATATGTTATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15232675	G G	GTGTATAT others(39): Show GTGTATATATATATGTGTGTATATATATACATATATATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0073 a0001c0001t0012 a0001c0001t0073	a0001c0001t0012g0004 a0001c0001t0073g0053 a0001c0001t0012g0004 a0001c0001t0073g0053	2	90	0.0222	46	c.39+ others(61): Show c.39+4909_39+4910insTATACACACATATATATGTATATATATACA CACATATATATATACA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15232682	T T	TATATATG others(39): Show TATATATGTGTGTATATATATACATATATATGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0045 a0001c0001t0028 a0001c0001t0045	a0001c0001t0028g0006 a0001c0001t0045g0008 a0001c0001t0028g0006 a0001c0001t0045g0008	2	87	0.0230	46	c.39+ others(61): Show c.39+4902_39+4903insGTATATATATACACACATATATATGTATAT ATATACACACATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAGAA others(39): Show AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0145 a0002c0003t0003g0145	1	20	0.0500	46	c.75- others(61): Show c.75-2165_75-2164insAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM1_chr22_24801211_24932578	24900388	T T	TCTCTTTC others(39): Show TCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0284 a0003c0003t0009g0284	1	336	0.0030	46	c.261 others(65): Show c.2611-1445_2611-1444insCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTTCTCTC	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24			chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02109.hp2 NA18747.hp1 others(1): Show HG02074.hp2 HG02109.hp2 NA18747.hp1 NA18970.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0003 a0014c0040 a0001c0001 a0001c0003 a0014c0040	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0014c0040t0001	a0001c0001t0001g0214 a0001c0001t0002g0217 a0001c0003t0002g0215 others(1): Show a0001c0001t0001g0214 a0001c0001t0002g0217 a0001c0003t0002g0215 a0014c0040t0001g0216	4	169	0.0237	46	c.57+ others(61): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416448	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	2	363	0.0055	46	c.-44 others(57): Show c.-4433_-4432insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4313		chr1	TogoVar
SH3BP4_chr2_234947017_235060714	234992632	C C	CCCCTGGA others(39): Show CCCCTGGAGATGGACGCATTCCTGCTGCGTGGCTCTGGGTCTGGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	345	0.0029	46	c.-20 others(65): Show c.-206-2627_-206-2582dupAGACCCTGGAGATGGACGCATTCCTG CTGCGTGGCTCTGGGTCTGG	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038241	T T	TATATATT others(39): Show TATATATTATATATAATATATAGTATATATAATATATAGTATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp1 HG01261.hp1 others(1): Show HG00733.hp1 HG01192.hp1 HG01261.hp1 HG03704.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0077 a0002c0001t0002g0173 a0002c0001t0002g0279 others(1): Show a0002c0001t0002g0077 a0002c0001t0002g0173 a0002c0001t0002g0279 a0002c0001t0002g0294	4	231	0.0173	46	c.119 others(63): Show c.119-2641_119-2640insTATATATAATATATAGTATATATAATAT ATAGTATATATAATATAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0199 a0001c0002t0026g0199	1	18	0.0556	46	c.73- others(59): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0125 a0001c0003t0075g0125	1	267	0.0037	46	c.196 others(65): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATATATATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHC2_chr19_411589_466033	432376	G G	GATCGTGA others(39): Show GATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03942.hp2 NA19091.hp1 HG00558.hp2 HG03942.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0173 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0173	3	210	0.0143	46	c.111 others(65): Show c.1111-1630_1111-1629insGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	434567	A A	AGTGAGTC others(39): Show AGTGAGTCTGAGTGAGTGAGATTGTGAGTGGGATCATAAGTGAGTCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	2	0.5000	46	c.111 others(63): Show c.1110+141_1110+142insAGACTCACTTATGATCCCACTCACAATC TCACTCACTCAGACTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182918189	C C	CACATATA others(39): Show CACATATATATACATATATATACACATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03471.hp1 NA21309.hp2 HG02970.hp1 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198	3	300	0.0100	46	c.118 others(67): Show c.1182+11412_1182+11457dupATATATATATGTGTATATATATGT GTATATATATGTATATATATGT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924797	A A	AAAGAAAG others(39): Show AAAGAAAGAAAGAGAAAGAAAGAGAGAGAAAGAGAGAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	275	0.0036	46	c.118 others(65): Show c.1182+4849_1182+4850insCCTTCCTTTCTCTCTCTTTCTCTCTC TTTCTTTCTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA8_chr22_41904543_41920074	41908806	G G	GTCACACA others(39): Show GTCACACACCTCAACCAGCCACAGCCCTGGCCCCTAGCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01081.hp2 others(30): Show HG00639.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01884.hp1 HG01891.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18986.hp1 NA19043.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0002 a0001c0001t0004g0015 a0002c0002t0002g0004 others(3): Show a0001c0001t0001g0002 a0001c0001t0004g0015 a0002c0002t0002g0004 a0002c0002t0002g0023 a0002c0002t0002g0049 a0003c0003t0003g0005	33	348	0.0948	46	c.95 others(55): Show c.958_*959insTGTGGGGAGGCTAGGGGCCAGGGCTGTGGCTGGTTG AGGTGTGTGA	SHISA8	ENSG00000234965.3	transcript	ENST00000621082.2	protein_coding		736		chr22	TogoVar
SHISA8_chr22_41904543_41920074	41908833	T T	TGGCCCCT others(39): Show TGGCCCCTAGCCTCCCCACATCACACACCTCAACCAGCCACAGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	374	0.0027	46	c.93 others(55): Show c.931_*932insCGGGCTGTGGCTGGTTGAGGTGTGTGATGTGGGGAG GCTAGGGGCC	SHISA8	ENSG00000234965.3	transcript	ENST00000621082.2	protein_coding		709		chr22	TogoVar
SHISA9_chr16_12896598_13245416	13015963	T T	TCCTTTCC others(39): Show TCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03098.hp2 NA18979.hp2 others(2): Show HG02300.hp1 HG03098.hp2 NA18979.hp2 NA19060.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0023 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0023 a0001c0001t0024 a0001c0003t0008	a0001c0001t0002g0163 a0001c0001t0002g0213 a0001c0001t0023g0195 others(2): Show a0001c0001t0002g0163 a0001c0001t0002g0213 a0001c0001t0023g0195 a0001c0001t0024g0038 a0001c0003t0008g0001	5	172	0.0291	46	c.691 others(65): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015973	T T	TCCCTTCC others(39): Show TCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0010 a0001c0001t0025g0010	1	214	0.0047	46	c.691 others(65): Show c.691+99166_691+99167insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTTCCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18612.hp2 NA18998.hp1 HG03579.hp2 NA18612.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0031 a0001c0002t0001 a0001c0002t0008 a0001c0002t0031	a0001c0002t0001g0279 a0001c0002t0008g0361 a0001c0002t0031g0244 a0001c0002t0001g0279 a0001c0002t0008g0361 a0001c0002t0031g0244	3	107	0.0280	46	c.600 others(65): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5764160	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATTTTTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0173 a0002c0007t0002g0173	1	316	0.0032	46	c.-4- others(61): Show c.-4-8687_-4-8686insATATATATATATTTTTATATATATATATAT TTATATATATATATAT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOX_chrX_625791_656584	628682	T T	TCTGTCTG others(39): Show TCTGTCTGTCTCTCTCTTTCTCTCTCTCTATCTCTCCCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03041.hp1 NA18906.hp1 others(1): Show HG02922.hp2 HG03041.hp1 NA18906.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0025 a0001c0001t0033 others(1): Show a0001c0001t0018 a0001c0001t0025 a0001c0001t0033 a0001c0001t0175	a0001c0001t0018g0098 a0001c0001t0025g0158 a0001c0001t0033g0159 others(1): Show a0001c0001t0018g0098 a0001c0001t0025g0158 a0001c0001t0033g0159 a0001c0001t0175g0157	4	190	0.0211	46	c.-22 others(57): Show c.-2216_-2215insCTGTCTGTCTCTCTCTTTCTCTCTCTCTATCTCT CCCTCTCTCTCC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2108		chrX	TogoVar
SHPK_chr17_3603240_3641250	3635236	A A	AGGAAGGA others(39): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01433.hp1 NA21309.hp1 HG00408.hp2 HG01433.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0002 a0001c0001t0009 a0002c0002t0002	a0001c0001t0009g0346 a0001c0001t0009g0348 a0002c0002t0002g0347 a0001c0001t0009g0346 a0001c0001t0009g0348 a0002c0002t0002g0347	3	362	0.0083	46	c.168 others(61): Show c.168+815_168+816insCTTCCTTCCTTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(39): Show AATAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0067 a0001c0001t0020g0067	1	31	0.0323	46	c.324 others(65): Show c.324-63928_324-63927insAATATATATATATATATATATATATA TATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0066 a0003c0002t0001g0066	1	29	0.0345	46	c.324 others(65): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTATGTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	117006783	T T	TTTATGGA others(39): Show TTTATGGAAGTGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	290	0.0034	46	c.-17 others(57): Show c.-1705_-1704insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GCACTTCCATAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding		1597		chr10	TogoVar
SIGIRR_chr11_400716_419999	401088	G G	GCCCCGCT others(39): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	230	0.0043	46	c.48 others(57): Show c.4807_*4808insGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4627		chr11	TogoVar
SIGIRR_chr11_400716_419999	401613	G G	GGGCCCCG others(39): Show GGGCCCCGCTCACACCCGACCCGCTCACACCCGGCCCCGCTCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	221	0.0045	46	c.42 others(57): Show c.4282_*4283insGGGGTGAGCGGGGCCGGGTGTGAGCGGGTCGGGT GTGAGCGGGGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4102		chr11	TogoVar
SIGIRR_chr11_400716_419999	401916	G G	GGCCCCGC others(39): Show GGCCCCGCTCACACCCGCCCCGCTCACCCGGACCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	147	0.0068	46	c.39 others(57): Show c.3979_*3980insGGGTGTGAGCGGGGGTCCGGGTGAGCGGGGCGGG TGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3799		chr11	TogoVar
SIGIRR_chr11_400716_419999	402608	C C	CCCGCTCA others(39): Show CCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	239	0.0042	46	c.32 others(57): Show c.3287_*3288insTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTC GGGGGTGAGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3107		chr11	TogoVar
SIGIRR_chr11_400716_419999	402936	G G	GACCCCCG others(39): Show GACCCCCGGCTCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	227	0.0088	46	c.29 others(57): Show c.2959_*2960insGAGCGGGGCGGGGGTGAGCGGGGCGGGGGTGAGC GGAGCCGGGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2779		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCGCC others(39): Show CCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	152	0.0066	46	c.28 others(57): Show c.2880_*2881insTGTGAGTGGGGCGGGGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCGCC others(39): Show CCCCCGCCCCGCTCACCCCGGACCCCGCTCCCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	152	0.0066	46	c.28 others(57): Show c.2880_*2881insTGTGAGTGGGGCGGGGGGAGCGGGGTCCGGGGTG AGCGGGGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGIRR_chr11_400716_419999	411392	G G	GGCCGGGG others(39): Show GGCCGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02074.hp2 HG02132.hp2 others(6): Show HG00280.hp1 HG02074.hp2 HG02132.hp2 HG03017.hp2 HG04204.hp2 HG04228.hp1 NA18945.hp2 NA19065.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0054 a0001c0001t0001g0055 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0113 a0001c0001t0001g0118	9	232	0.0388	46	c.-15 others(65): Show c.-153-1366_-153-1365insTCCCCGACTGCATCCAGACATGGTCA GAGCTGAGCACCCCCCCGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(39): Show TATATATATATATATATATATATATACATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02109.hp2 HG02280.hp2 others(1): Show HG01081.hp2 HG02109.hp2 HG02280.hp2 HG02970.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0344 a0004c0006t0001g0346 a0004c0006t0001g0347 others(1): Show a0004c0006t0001g0344 a0004c0006t0001g0346 a0004c0006t0001g0347 a0004c0006t0001g0349	4	232	0.0172	46	c.274 others(65): Show c.274-63183_274-63182insGTGTGTATATATATATATATGTATAT ATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0051 a0001c0002t0004g0051	1	229	0.0044	46	c.274 others(65): Show c.274-63183_274-63182insGTGTATATATATATATATATATATAT ATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139169861	C C	CCCTCTTT others(39): Show CCCTCTTTCCACGGTCTCCCTCTGCCTCTTTCCACGGTCTCCCTCTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19063.hp2 HG00423.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	141	0.0142	46	c.-11 others(65): Show c.-11+28407_-11+28408insCAGAGGGAGACCGTGGAAAGAGGCAG AGGGAGACCGTGGAAAGAGG	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305703	A A	AGATGGGG others(39): Show AGATGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	302	0.0033	46	c.173 others(65): Show c.1735-7987_1735-7986insATGGGGGGTCAGCCCCGACGCCCGGC CAGCCGTGCCATCCGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305706	T T	TGGGGGGT others(39): Show TGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0319 a0002c0002t0002g0319	1	292	0.0034	46	c.173 others(65): Show c.1735-7979_1735-7978insTCAGCCCCGACGCCCGGCCAGCCGTG CCATCCGGGGGGAGGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKI_chr1_2223319_2315213	2280665	A A	AGGCGGCG others(39): Show AGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	311	0.0032	46	c.970 others(65): Show c.970-22302_970-22257dupGCGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGCGGCGGCG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281072	C C	CAGAGAGA others(39): Show CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0148 a0001c0001t0018g0148	1	326	0.0031	46	c.970 others(65): Show c.970-21900_970-21899insAGAGATGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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