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
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	7	0.1429	23	c.190 others(40): Show c.190-2523_190-2501dupTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116686	C C	CACATATA others(16): Show CACATATAGTATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	141	0.0071	23	c.190 others(42): Show c.190-54150_190-54149insATATATACATATATACTATATGT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0249 a0001c0001t0094g0249	1	202	0.0050	23	c.44 others(34): Show c.4443_*4444insAAAAAAAAATATATATATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50765255	C C	CGGGAAAG others(16): Show CGGGAAAGTTGGGGGAAAGAGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0011 a0001c0001t0024g0012 a0001c0001t0024g0011 a0001c0001t0024g0012	2	334	0.0060	23	c.66+ others(36): Show c.66+190_66+212dupACCCTCTTTCCCCCAACTTTCCC	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	1/14			chr15	TogoVar
SPPL2B_chr19_2323684_2360095	2338957	T T	TGGCCCCT others(16): Show TGGCCCCTGCAGGCCAGGGTCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	412	0.0024	23	c.460 others(37): Show c.460-111_460-89dupGGCCCCTGCAGGCCAGGGTCTCC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120830606	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0303 a0001c0001t0018g0303	1	314	0.0032	23	c.24- others(40): Show c.24-19721_24-19720insCTCTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03491.hp2 HG03492.hp2 others(2): Show HG01175.hp2 HG03491.hp2 HG03492.hp2 NA18941.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0174 others(2): Show a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0017g0128	5	97	0.0515	23	c.23+ others(40): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38310115	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	352	0.0028	23	c.207 others(42): Show c.207+10568_207+10569insGTGTGTGTGTGTGTGTGTGTGTG	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6			chr15	TogoVar
SPRED1_chr15_38247836_38362249	38310153	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0331 a0001c0001t0004g0331	1	20	0.0500	23	c.207 others(42): Show c.207+10607_207+10608insGTGTGTGTGTGTGTGTGTGTGTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65342367	T T	TTATGTAT others(16): Show TTATGTATGTATATTTTGTATACG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	274	0.0036	23	c.204 others(40): Show c.204+2351_204+2352insCGTATACAAAATATACATACATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED3_chr19_38383697_38404587	38397903	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0032 a0001c0001t0013g0032	1	251	0.0040	23	c.17 others(34): Show c.1773_*1774insAAAAAAAAAAAAAAAAAAAAAAA	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	6/6	1774	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRR2B_chr1_153065226_153076611	153069533	A A	ACAATACA others(16): Show ACAATACAAATTTCAAAATACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(116): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	119	428	0.2780	23	c.10 others(34): Show c.1087_*1088insATTGTATTTTGAAATTTGTATTG	SPRR2B	ENSG00000196805.8	transcript	ENST00000368755.3	protein_coding		692		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231357145	T T	TCCTGGTC others(16): Show TCCTGGTCCACATGGTGAAACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG02723.hp2 others(5): Show HG01106.hp2 HG02451.hp1 HG02723.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	8	350	0.0229	23	c.37 others(34): Show c.3784_*3785insCCTGGTCCACATGGTGAAACCCC	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		2123		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(16): Show GTCTCTCTCCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18945.hp1 NA19011.hp1 others(1): Show HG02015.hp1 NA18945.hp1 NA19011.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0036 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0036 a0001c0001t0066	a0001c0001t0002g0125 a0001c0001t0015g0123 a0001c0001t0036g0122 others(1): Show a0001c0001t0002g0125 a0001c0001t0015g0123 a0001c0001t0036g0122 a0001c0001t0066g0124	4	203	0.0197	23	c.-28 others(42): Show c.-282+3461_-282+3462insCTCTCTCTCTCTCTCTCTCTCTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG01071.hp2 others(34): Show HG00544.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01192.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG03490.hp1 HG03834.hp2 HG03942.hp1 NA18953.hp1 NA18957.hp1 NA18962.hp1 NA18984.hp1 NA18986.hp1 NA19000.hp1 NA19012.hp1 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19082.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0037 a0001c0001t0052 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0104 a0001c0001t0116 a0001c0001t0124 a0001c0001t0127 a0001c0001t0130 a0001c0001t0145 a0001c0002t0030 a0001c0002t0136 a0001c0002t0137	a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0002g0207 others(34): Show a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0002g0207 a0001c0001t0002g0222 a0001c0001t0004g0149 a0001c0001t0004g0176 a0001c0001t0005g0186 a0001c0001t0009g0147 a0001c0001t0009g0180 a0001c0001t0009g0191 a0001c0001t0009g0206 a0001c0001t0010g0152 a0001c0001t0011g0154 a0001c0001t0011g0157 a0001c0001t0014g0177 a0001c0001t0014g0179 a0001c0001t0018g0140 a0001c0001t0019g0208 a0001c0001t0025g0182 a0001c0001t0025g0185 a0001c0001t0028g0225 a0001c0001t0029g0188 a0001c0001t0031g0215 a0001c0001t0037g0192 a0001c0001t0052g0183 a0001c0001t0058g0171 a0001c0001t0059g0175 a0001c0001t0061g0135 a0001c0001t0104g0153 a0001c0001t0116g0216 a0001c0001t0124g0146 a0001c0001t0127g0187 a0001c0001t0130g0203 a0001c0001t0145g0163 a0001c0002t0030g0205 a0001c0002t0136g0224 a0001c0002t0137g0131	37	152	0.2434	23	c.-28 others(42): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155688794	C C	CTAGCTAT others(16): Show CTAGCTATTAAGCCCAGCATGCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03579.hp1 others(1): Show HG02451.hp1 HG03195.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0039 a0001c0001t0040 others(1): Show a0001c0001t0007 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042	a0001c0001t0007g0098 a0001c0001t0039g0097 a0001c0001t0040g0096 others(1): Show a0001c0001t0007g0098 a0001c0001t0039g0097 a0001c0001t0040g0096 a0001c0001t0042g0092	4	229	0.0175	23	c.-28 others(44): Show c.-282+76152_-282+76153insATTAAGCCCAGCATGCCTTAGCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRYD3_chr12_53059316_53084390	53065765	T T	TCAGGAAC others(16): Show TCAGGAACTGGGTGCCTGGCCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0057 a0001c0001t0016g0057	1	402	0.0025	23	c.44 others(30): Show c.44_*66dupCTGGGCCAGGCACCCAGTTCCTG	SPRYD3	ENSG00000167778.9	transcript	ENST00000301463.9	protein_coding	11/11	66		chr12	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18991.hp1 NA18991.hp2 others(1): Show NA18943.hp2 NA18991.hp1 NA18991.hp2 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0092 a0001c0001 a0003c0005 a0003c0092	a0001c0001t0002 a0001c0001t0043 a0003c0005t0021 others(1): Show a0001c0001t0002 a0001c0001t0043 a0003c0005t0021 a0003c0092t0010	a0001c0001t0002g0122 a0001c0001t0043g0135 a0003c0005t0021g0063 others(1): Show a0001c0001t0002g0122 a0001c0001t0043g0135 a0003c0005t0021g0063 a0003c0092t0010g0081	4	166	0.0241	23	c.258 others(42): Show c.2587+1669_2587+1691dupAAAAAAAAAAAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	22	0.0455	23	c.-3- others(38): Show c.-3-5072_-3-5050dupAAAAAAAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128574972	G G	GCTCTCCA others(16): Show GCTCTCCAGCTCTCCTAGCTGCTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0128 a0001c0001t0001g0131	2	310	0.0065	23	c.504 others(38): Show c.504+157_504+158insCTCTCCAGCTCTCCTAGCTGCTC	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	4/56			chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0007 a0001c0029t0007	a0001c0029t0007g0283 a0001c0029t0007g0283	1	129	0.0078	23	c.149 others(42): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0304 a0001c0003t0003g0304	1	63	0.0159	23	c.149 others(42): Show c.149-17514_149-17492dupTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0051 a0001c0005t0011g0051	1	92	0.0109	23	c.149 others(40): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64744771	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0110 a0002c0003t0005g0110	1	163	0.0061	23	c.45 others(34): Show c.4534_*4535insAAAAAAAAAAAAAAAAAAAAAAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding		1511		chr14	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0017 a0005c0036t0017	a0005c0036t0017g0210 a0005c0036t0017g0210	1	151	0.0066	23	c.660 others(42): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00735.hp2 others(14): Show HG00544.hp1 HG00609.hp1 HG00735.hp2 HG02040.hp2 HG02155.hp1 HG02886.hp1 HG03195.hp1 HG03834.hp2 HG04228.hp1 NA18947.hp1 NA18957.hp1 NA18973.hp2 NA18979.hp1 NA18990.hp1 NA18998.hp1 NA19070.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 others(13): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0335 a0002c0003t0001g0014 a0002c0003t0001g0050 a0002c0003t0001g0055 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0071 a0002c0003t0001g0088 a0002c0003t0001g0091 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0098	17	216	0.0787	23	c.61- others(38): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622091	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19068.hp1 NA18945.hp1 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0056 a0002c0003t0001g0057	2	442	0.0045	23	c.61- others(38): Show c.61-5103_61-5102insGTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622100	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	442	0.0023	23	c.61- others(38): Show c.61-5112_61-5111insGTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04184.hp2 HG01433.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0276 a0003c0003t0001g0308 a0003c0003t0001g0276 a0003c0003t0001g0308	2	117	0.0171	23	c.130 others(42): Show c.1305+1667_1305+1689dupTTTTTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	16	0.0625	23	c.345 others(40): Show c.345+1344_345+1345insGGAAGGAAGGAAGGAAGGAAGGA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp2 HG03471.hp2 HG03579.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0009 a0007c0009t0009	a0007c0009t0009g0135 a0007c0009t0009g0137 a0007c0009t0009g0135 a0007c0009t0009g0137	2	195	0.0103	23	c.91+ others(38): Show c.91+7521_91+7522insATATATATTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0059 a0001c0003t0014g0059	1	104	0.0096	23	c.278 others(38): Show c.278+553_278+554insAAAAAAAAAAATATATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02145.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0014 a0001c0003t0010 a0001c0003t0014	a0001c0003t0010g0053 a0001c0003t0014g0062 a0001c0003t0010g0053 a0001c0003t0014g0062	2	105	0.0190	23	c.278 others(38): Show c.278+553_278+554insAAAAAAAAAAAAATATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03195.hp1 HG02818.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0031 a0001c0003t0005g0040 a0001c0003t0005g0031 a0001c0003t0005g0040	2	277	0.0072	23	c.206 others(40): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0056 a0001c0001t0007g0056	1	173	0.0058	23	c.116 others(40): Show c.1162+578_1162+579insTTTTTTTTTTTTTTTTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63913454	C C	CTTATAAT others(16): Show CTTATAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0061 a0001c0002t0055g0061	1	144	0.0069	23	c.67+ others(40): Show c.67+68571_67+68572insTTATAATATATATATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21			chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0130 a0001c0002t0014g0130	1	61	0.0164	23	c.801 others(40): Show c.801+1102_801+1124dupTTTTTTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882394	T T	TGGGGCAA others(16): Show TGGGGCAAAAAGCCGCGGCGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG02602.hp1 others(1): Show HG01099.hp2 HG01109.hp2 HG02602.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0002 a0001c0001t0002g0035	4	54	0.0741	23	c.97 others(34): Show c.9765_*9766insCCGCCGCCGCGGCTTTTTGCCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4893		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	38	0.0263	23	c.423 others(40): Show c.423+6511_423+6533dupAAAAAAAAAAAAAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396304	C C	CCCGCCGC others(16): Show CCCGCCGCGGCTTTTTACCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	270	0.0037	23	c.84 others(34): Show c.8449_*8450insCCGCCGCGGCTTTTTACCCCCCG	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3431		chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9015219	T T	TCTTGCAC others(16): Show TCTTGCACCATGCACAGGCTGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02647.hp1 others(6): Show HG02145.hp1 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03130.hp1 HG03453.hp2 HG03516.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0019 a0001c0001 a0007c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0017 a0001c0001t0042 a0001c0001t0052 a0007c0019t0017	a0001c0001t0002g0016 a0001c0001t0002g0155 a0001c0001t0004g0036 others(6): Show a0001c0001t0002g0016 a0001c0001t0002g0155 a0001c0001t0004g0036 a0001c0001t0015g0041 a0001c0001t0015g0154 a0001c0001t0017g0098 a0001c0001t0042g0186 a0001c0001t0052g0188 a0007c0019t0017g0089	9	226	0.0398	23	c.181 others(40): Show c.1813+355_1813+377dupTCCCAGCCTGTGCATGGTGCAAG	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	15/21			chr3	TogoVar
SRMS_chr20_63533489_63552749	63535771	C C	CCCTCACC others(16): Show CCCTCACCTGGCCTCCCGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0009 a0018c0018t0009	a0018c0018t0009g0057 a0018c0018t0009g0057	1	352	0.0028	23	c.50 others(34): Show c.5024_*5046dupAGGGGGCGGGAGGCCAGGTGAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2717		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535822	A A	ACCTGGCC others(16): Show ACCTGGCCTCCCGCCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0031 a0011c0014t0002g0031	1	350	0.0029	23	c.49 others(34): Show c.4995_*4996insAGAGGAGGGGGCGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2666		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535841	C C	CCCTCATC others(16): Show CCCTCATCTGGCCTCCCGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0031 a0011c0014t0002g0031	1	344	0.0029	23	c.49 others(34): Show c.4976_*4977insAGGGGGCGGGAGGCCAGATGAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2647		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535925	C C	CCGCCCCC others(16): Show CCGCCCCCCCCCCTCACCTGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	354	0.0028	23	c.48 others(34): Show c.4892_*4893insAGGCCAGGTGAGGGGGGGGGGCG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2563		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535956	C C	CCCTCACC others(16): Show CCCTCACCTGGCCTCCCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0009 a0006c0008t0009	a0006c0008t0009g0012 a0006c0008t0009g0012	1	303	0.0033	23	c.48 others(34): Show c.4861_*4862insACGGGGTGGGAGGCCAGGTGAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2532		chr20	TogoVar
SRMS_chr20_63533489_63552749	63536007	A A	ACCTGGCC others(16): Show ACCTGGCCTCCCGCCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18991.hp2 NA18999.hp2 NA18964.hp1 NA18991.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0014g0017 a0001c0001t0001g0001 a0001c0001t0014g0017	3	353	0.0085	23	c.47 others(34): Show c.4788_*4810dupAGAGGAGGGGGCGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2481		chr20	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	97	0.0103	23	c.-34 others(40): Show c.-34+5364_-34+5365insAAAAAAAAAAAAATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	97	0.0103	23	c.-34 others(40): Show c.-34+5364_-34+5365insAAAAAAAAATATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988582	T T	TATATATA others(16): Show TATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0272 a0001c0001t0005g0272	1	338	0.0030	23	c.-34 others(40): Show c.-34+5380_-34+5381insTATATATAACATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar

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