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
SPNS2_chr17_4493881_4544035	4494974	T T	TTAAAAAA others(22): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02273.hp1 NA18983.hp1 others(1): Show HG02004.hp1 HG02273.hp1 NA18983.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0241 a0001c0001t0002g0275 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0241 a0001c0001t0002g0275 a0001c0001t0003g0252	4	45	0.0889	29	c.-40 others(40): Show c.-4074_-4073insTAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458621	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp2 HG01515.hp2 others(1): Show HG01106.hp1 HG01255.hp2 HG01515.hp2 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0005 a0003c0008 a0001c0006 a0003c0005 a0003c0008	a0001c0006t0001 a0003c0005t0002 a0003c0008t0003 a0001c0006t0001 a0003c0005t0002 a0003c0008t0003	a0001c0006t0001g0010 a0003c0005t0002g0155 a0003c0008t0003g0267 others(1): Show a0001c0006t0001g0010 a0003c0005t0002g0155 a0003c0008t0003g0267 a0003c0008t0003g0268	4	311	0.0129	29	c.111 others(48): Show c.1113+5444_1113+5445insTTTTCTTTCTTTCTTTCTTTCTTTCT TTC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	35	0.0286	29	c.-12 others(40): Show c.-1200_-1199insAAAAAAATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 NA19057.hp2 HG02809.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0164 a0001c0001t0001g0046 a0001c0001t0001g0164	2	36	0.0556	29	c.-12 others(40): Show c.-1200_-1199insAAAAAAAAAAAAATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	35	0.0286	29	c.-12 others(40): Show c.-1200_-1199insAAAAAAAAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0088 a0001c0001t0023g0088	1	63	0.0159	29	c.347 others(46): Show c.347+8590_347+8591insATATATATATATATATATATATATATTT T	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	167109196	T T	TTTATATA others(22): Show TTTATATAAAAATATATAAATATTATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	135	0.0074	29	c.190 others(48): Show c.190-46660_190-46659insGTATATAATATTTATATATTTTTATA TAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205242	T T	TTATATAT others(22): Show TTATATATTATATATATTTTATATCTATAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	137	0.0073	29	c.189 others(48): Show c.189+28714_189+28742dupTTATAGATATAAAATATATATAATAT ATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 NA18906.hp2 HG02897.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0027 a0001c0001t0001g0043	2	68	0.0294	29	c.69 others(40): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPPL3_chr12_120757510_120909358	120830408	A A	AGGGGGGA others(22): Show AGGGGGGAAGAAGGGGGAGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	34	0.0294	29	c.24- others(46): Show c.24-19523_24-19522insCTCCCCTTCCCCTCCCCCTTCTTCCCCC C	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830465	G G	GGGGGGGA others(22): Show GGGGGGGAAGAAGGGGGAGGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0117 a0001c0001t0008g0117	1	317	0.0032	29	c.24- others(46): Show c.24-19580_24-19579insTTCCCCTTCCCCTCCCCCTTCTTCCCCC C	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	93	0.0108	29	c.23+ others(46): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02738.hp1 NA19084.hp1 HG02523.hp1 HG02738.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0128 a0001c0001t0005g0155 a0001c0001t0008g0143 a0001c0001t0001g0128 a0001c0001t0005g0155 a0001c0001t0008g0143	3	118	0.0254	29	c.-28 others(48): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCTCTC TCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPSB1_chr1_9287894_9374532	9353171	A A	ACCTCGAG others(22): Show ACCTCGAGAGCCGCCTCAGCCCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0172 a0001c0002t0007g0172	1	367	0.0027	29	c.-14 others(48): Show c.-149-2555_-149-2527dupAGCCCGCCCGGCCCCTCGAGAGCCGC CTC	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18972.hp2 NA19058.hp1 others(1): Show NA18965.hp2 NA18972.hp2 NA19058.hp1 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0005 a0001c0001 a0002c0006 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0002c0006t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0002c0006t0008 a0003c0005t0010	a0001c0001t0002g0067 a0001c0001t0005g0110 a0002c0006t0008g0100 others(1): Show a0001c0001t0002g0067 a0001c0001t0005g0110 a0002c0006t0008g0100 a0003c0005t0010g0106	4	166	0.0241	29	c.258 others(48): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54495679	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTATTATACTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp1 HG03491.hp1 others(5): Show HG01192.hp2 HG01433.hp1 HG03491.hp1 HG03492.hp2 NA18964.hp2 NA18987.hp1 NA19000.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0007 a0001c0002t0001 a0001c0002t0006 others(4): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0006 a0001c0002t0047 a0001c0004t0004 a0001c0009t0007 a0001c0009t0010	a0001c0001t0007g0197 a0001c0002t0001g0066 a0001c0002t0001g0117 others(5): Show a0001c0001t0007g0197 a0001c0002t0001g0066 a0001c0002t0001g0117 a0001c0002t0006g0089 a0001c0002t0047g0271 a0001c0004t0004g0277 a0001c0009t0007g0288 a0001c0009t0010g0084	8	307	0.0261	29	c.-47 others(48): Show c.-47-30692_-47-30691insTTTTTTTTTTTTTTTTTTTATTATAC TCT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0018 a0002c0026t0018	a0002c0026t0018g0066 a0002c0026t0018g0066	1	151	0.0066	29	c.660 others(48): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(22): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18995.hp1 NA18953.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0096 a0001c0001t0009g0084 a0001c0001t0001g0096 a0001c0001t0009g0084	2	27	0.0741	29	c.130 others(48): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAG AAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SQOR_chr15_45630029_45696281	45634225	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	338	0.0030	29	c.-90 others(38): Show c.-901_-900insATATATATATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		803		chr15	TogoVar
SQOR_chr15_45630029_45696281	45683026	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0229 a0005c0008t0001g0229	1	241	0.0041	29	c.104 others(46): Show c.1048+381_1048+382insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414893	G G	GTACACAC others(22): Show GTACACACACAGTGTTATATAGTATGTACA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	356	0.0028	29	c.233 others(48): Show c.2334-1601_2334-1600insTGTACATACTATATAACACTGTGTGT GTA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414894	T T	TACACACA others(22): Show TACACACACACAGTGTTATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	285	0.0035	29	c.233 others(48): Show c.2334-1602_2334-1601insGTACATACTATATAACACTGTGTGTG TGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415175	T T	TACATACA others(22): Show TACATACACACAGTGTTATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG02615.hp1 HG02630.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0161 a0005c0006t0001g0162 a0005c0006t0001g0161 a0005c0006t0001g0162	2	309	0.0065	29	c.233 others(48): Show c.2334-1883_2334-1882insGTACATACTATATAACACTGTGTGTA TGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31531561	G G	GGGGAATT others(22): Show GGGGAATTTAATTCCAAAAAATGAAGGGAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	318	0.0031	29	c.446 others(42): Show c.446-90_446-89insTTCCCTTCATTTTTTGGAATTAAATTCCC	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	2/4			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31531561	G G	GGGGCATT others(22): Show GGGGCATTTAATTCCAAAAAATGAAGGGAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp2 HG01169.hp2 others(63): Show HG00609.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18971.hp1 NA18972.hp2 NA18978.hp1 NA18980.hp1 NA18986.hp1 NA18997.hp2 NA19009.hp2 NA19043.hp2 NA19056.hp2 NA19064.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0007t0016	a0001c0001t0002g0014 a0001c0001t0002g0129 a0001c0001t0002g0287 others(62): Show a0001c0001t0002g0014 a0001c0001t0002g0129 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0004g0132 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0167 a0001c0001t0005g0131 a0001c0001t0005g0160 a0001c0001t0005g0166 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0010g0130 a0001c0001t0010g0163 a0001c0001t0013g0159 a0001c0001t0013g0161 a0001c0001t0014g0332 a0001c0001t0023g0282 a0001c0001t0028g0158 a0001c0001t0029g0156 a0001c0001t0030g0157 a0001c0001t0031g0344 a0001c0001t0032g0284 a0001c0007t0016g0023	66	383	0.1723	29	c.446 others(42): Show c.446-90_446-89insTTCCCTTCATTTTTTGGAATTAAATGCCC	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	2/4			chr2	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0151 a0001c0001t0009g0151	1	194	0.0052	29	c.91+ others(44): Show c.91+7521_91+7522insATATATATATTTTTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	194	0.0052	29	c.91+ others(44): Show c.91+7521_91+7522insATATATATATATTTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SRGAP1_chr12_63839700_64167217	63951152	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0007 a0001c0001t0142g0007	1	20	0.0500	29	c.68- others(46): Show c.68-32794_68-32766dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882698	G G	GGGCACAA others(22): Show GGGCACAAAGACGCAAAAAGCCGCGGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG03490.hp2 others(2): Show HG00735.hp2 HG01099.hp1 HG03490.hp2 HG03492.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0012 a0003c0003t0004 a0001c0001t0001 a0001c0001t0012 a0003c0003t0004	a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0012g0051 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0012g0051 a0003c0003t0004g0054 a0003c0003t0004g0055	5	54	0.0926	29	c.94 others(40): Show c.9461_*9462insGCCGCCGCGGCTTTTTGCGTCTTTGTGCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4589		chr1	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp2 HG01167.hp1 others(51): Show HG00558.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp2 HG01515.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02258.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18959.hp1 NA18961.hp2 NA18965.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19010.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19086.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0005c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0045 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0009g0202 a0001c0001t0010g0145 a0005c0007t0001g0118	54	141	0.3830	29	c.478 others(46): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT T	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105331308	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	39	0.0256	29	c.71+ others(46): Show c.71+57311_71+57339dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	15	0.0667	29	c.164 others(46): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG01975.hp1 others(9): Show HG01261.hp2 HG01943.hp2 HG01975.hp1 HG02559.hp1 HG02683.hp1 HG03139.hp1 HG03491.hp2 HG03492.hp1 NA18992.hp1 NA19077.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0138 a0001c0001t0001g0143 others(8): Show a0001c0001t0001g0041 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0190 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0001g0269 a0001c0001t0001g0276	12	126	0.0952	29	c.-28 others(40): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76236005	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0149 a0001c0011t0001g0149	1	117	0.0085	29	c.233 others(44): Show c.233+731_233+732insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM4_chr12_118976541_119168051	119135606	C C	CATGCACC others(22): Show CATGCACCAGGTGTTTACTGAGCACCTACT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	326	0.0031	29	c.771 others(46): Show c.771+4785_771+4813dupTTTACTGAGCACCTACTATGCACCAGGT G	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRXN1_chr20_641615_658200	642006	G G	GGGGGGGC others(22): Show GGGGGGGCCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG02615.hp1 others(3): Show HG00323.hp2 HG01109.hp2 HG02615.hp1 HG02735.hp1 HG02818.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0036 a0001c0001t0001g0132 a0001c0001t0003g0077 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0132 a0001c0001t0003g0077 a0001c0001t0010g0041 a0001c0001t0010g0124	6	416	0.0144	29	c.67 others(40): Show c.6707_*6708insAGGCAACTCCACCCCCGCTGGGGCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4608		chr20	TogoVar
SRXN1_chr20_641615_658200	642199	G G	GGGGGGGG others(22): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0009 a0001c0001t0003 a0001c0002t0009	a0001c0001t0003g0015 a0001c0002t0009g0026 a0001c0001t0003g0015 a0001c0002t0009g0026	2	412	0.0049	29	c.65 others(40): Show c.6514_*6515insAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4415		chr20	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0102 a0001c0001t0014g0102	1	126	0.0079	29	c.927 others(46): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03225.hp1 HG01516.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0072 a0001c0001t0015g0014 a0001c0001t0014g0072 a0001c0001t0015g0014	2	77	0.0260	29	c.276 others(48): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0001 a0015c0027t0001	a0015c0027t0001g0393 a0015c0027t0001g0393	1	190	0.0053	29	c.138 others(46): Show c.1387+451_1387+452insATATATATATATATATATATATATATTT T	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02698.hp2 HG01884.hp1 HG02698.hp2	a0006 a0020 a0006 a0020	a0006c0041 a0020c0044 a0006c0041 a0020c0044	a0006c0041t0001 a0020c0044t0001 a0006c0041t0001 a0020c0044t0001	a0006c0041t0001g0295 a0020c0044t0001g0384 a0006c0041t0001g0295 a0020c0044t0001g0384	2	191	0.0105	29	c.138 others(46): Show c.1387+451_1387+452insATATATATATATATATATATATTTTTTT T	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0035 a0035	a0035c0067 a0035c0067	a0035c0067t0001 a0035c0067t0001	a0035c0067t0001g0341 a0035c0067t0001g0341	1	190	0.0053	29	c.138 others(46): Show c.1387+451_1387+452insATATATATATATATATATATTTTTTTTT T	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0223 a0005c0005t0001g0223	1	190	0.0053	29	c.138 others(46): Show c.1387+451_1387+452insATATATATATATATATATTTTTTTTTTT T	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495234	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	342	0.0029	29	c.138 others(46): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT A	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13			chr19	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAATTATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01261.hp1 HG00408.hp2 HG01123.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0070	3	87	0.0345	29	c.63+ others(46): Show c.63+16590_63+16591insATATATATATAATTTTTTTTTTTTTTTT T	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG01433.hp2 others(5): Show HG01109.hp1 HG01255.hp1 HG01433.hp2 HG01978.hp2 HG02738.hp2 HG03491.hp2 HG03927.hp1 NA18966.hp1	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0009c0017 a0010c0018 a0001c0001 a0009c0017 a0010c0018	a0001c0001t0001 a0009c0017t0001 a0010c0018t0001 a0001c0001t0001 a0009c0017t0001 a0010c0018t0001	a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0137 a0009c0017t0001g0039 a0010c0018t0001g0079	8	92	0.0870	29	c.63+ others(46): Show c.63+16590_63+16591insATATATATATATAATTTTTTTTTTTTTT T	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSTR2_chr17_73160010_73181633	73175198	T T	TCCCCCCC others(22): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0004 a0001c0001t0089g0004	1	452	0.0022	29	c.47 others(40): Show c.4772_*4773insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2	4773	INFO_REALIGN_3_PRIME	chr17	TogoVar
SSU72L6_chr7_124471317_124482664	124479398	G G	GGGGAAGA others(22): Show GGGGAAGAAAAAGGAAGGGCTCCTAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	464	0.0022	29	c.24 others(40): Show c.2443_*2444insGGGAAGAAAAAGGAAGGGCTCCTAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1735		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03130.hp2 others(3): Show HG02280.hp1 HG02572.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0018 a0001c0001t0001g0054 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0054 a0001c0001t0001g0194 a0001c0001t0007g0042	6	150	0.0400	29	c.58 others(40): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18984.hp2 HG02738.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0047 a0001c0001t0025g0046 a0001c0001t0002g0047 a0001c0001t0025g0046	2	93	0.0215	29	c.-10 others(52): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar

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