Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SH3KBP1_chrX_19528977_19892600	19873286	A A	ACGTATAT others(19): Show ACGTATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	190	0.0053	26	c.4+1 others(41): Show c.4+14020_4+14021insCGTATATATATATATATATATATACG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACAC others(19): Show ACACACACACACACACACACACTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 NA18975.hp2 NA19060.hp1 HG03098.hp2 NA18975.hp2 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0011 a0001c0003 a0004c0011	a0001c0003t0034 a0004c0011t0111 a0001c0003t0034 a0004c0011t0111	a0001c0003t0034g0033 a0001c0003t0034g0051 a0004c0011t0111g0226 a0001c0003t0034g0033 a0001c0003t0034g0051 a0004c0011t0111g0226	3	77	0.0390	26	c.51 others(37): Show c.5152_*5153insAGAGAGTGTGTGTGTGTGTGTGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACAC others(19): Show ACACACACACACACACACACTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 NA18979.hp1 HG03471.hp1 NA18979.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0011 a0001c0003 a0004c0011	a0001c0003t0094 a0004c0011t0108 a0001c0003t0094 a0004c0011t0108	a0001c0003t0094g0213 a0004c0011t0108g0225 a0001c0003t0094g0213 a0004c0011t0108g0225	2	76	0.0263	26	c.51 others(37): Show c.5152_*5153insAGAGAGAGTGTGTGTGTGTGTGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596685	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0084 a0001c0002t0074g0084	1	186	0.0054	26	c.51 others(37): Show c.5130_*5131insTGAGAGAGAGAGAGAGAGAGAGAGAG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5130		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103608150	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAGTTTACAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0123 a0003c0019t0001g0123	1	19	0.0526	26	c.130 others(45): Show c.1309-2234_1309-2233insTTGTAAACTTTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103702596	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp1 HG02165.hp1 others(8): Show HG00597.hp2 HG01981.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp1 NA18975.hp2 NA19002.hp1 NA19010.hp1 NA19062.hp1 NA19064.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0021 a0001c0001t0023 a0001c0002t0077 others(7): Show a0001c0001t0021 a0001c0001t0023 a0001c0002t0077 a0001c0003t0033 a0001c0003t0034 a0001c0003t0058 a0001c0003t0065 a0001c0003t0080 a0001c0003t0105 a0002c0006t0004	a0001c0001t0021g0204 a0001c0001t0023g0099 a0001c0002t0077g0042 others(8): Show a0001c0001t0021g0204 a0001c0001t0023g0099 a0001c0002t0077g0042 a0001c0003t0033g0065 a0001c0003t0033g0085 a0001c0003t0034g0033 a0001c0003t0058g0064 a0001c0003t0065g0024 a0001c0003t0080g0086 a0001c0003t0105g0209 a0002c0006t0004g0043	11	36	0.3056	26	c.399 others(43): Show c.399-9541_399-9540insACACACACACACACACACACACACAC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG03041.hp2 HG02630.hp1 HG02630.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0042 a0001c0002t0026 a0001c0001t0014 a0001c0001t0042 a0001c0002t0026	a0001c0001t0014g0101 a0001c0001t0042g0096 a0001c0002t0026g0214 a0001c0001t0014g0101 a0001c0001t0042g0096 a0001c0002t0026g0214	3	20	0.1500	26	c.73- others(39): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	A A	ATATATAT others(19): Show ATATATATATATAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0074 a0001c0001t0070 a0001c0001t0074	a0001c0001t0070g0215 a0001c0001t0074g0211 a0001c0001t0070g0215 a0001c0001t0074g0211	2	225	0.0089	26	c.427 others(43): Show c.427+5291_427+5292insATATATATATATTTTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368596	T T	TTATATAT others(19): Show TTATATATATATAATATATATGTTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0006 a0001c0001t0031g0006	1	268	0.0037	26	c.427 others(43): Show c.427+5193_427+5194insTATAACATATATATTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368686	T T	TTATATAT others(19): Show TTATATATATATAAAATATATATGTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	266	0.0038	26	c.427 others(43): Show c.427+5103_427+5104insTAACATATATATTTTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169178281	T T	TAAATAAG others(19): Show TAAATAAGCAACTATGCTTATTTAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00741.hp1 others(35): Show HG00099.hp1 HG00280.hp2 HG00741.hp1 HG01109.hp1 HG01192.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp2 HG02056.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02698.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18943.hp2 NA18954.hp1 NA18971.hp1 NA18981.hp1 NA18986.hp1 NA19058.hp2 NA19068.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0003c0016 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0016 a0001c0002t0017 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0028 a0003c0005t0010 a0003c0016t0002 a0006c0009t0004	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0163 others(34): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0003g0018 a0001c0001t0005g0162 a0001c0001t0014g0067 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0004g0159 a0001c0002t0006g0160 a0001c0002t0006g0167 a0001c0002t0009g0187 a0001c0002t0009g0188 a0001c0002t0016g0184 a0001c0002t0017g0171 a0002c0003t0001g0203 a0002c0003t0004g0001 a0002c0003t0004g0063 a0002c0003t0004g0168 a0002c0003t0004g0194 a0002c0003t0004g0195 a0002c0003t0004g0202 a0002c0003t0004g0204 a0002c0003t0004g0206 a0002c0003t0004g0210 a0002c0003t0006g0197 a0002c0003t0028g0201 a0003c0005t0010g0022 a0003c0016t0002g0151 a0006c0009t0004g0209	38	71	0.5352	26	c.394 others(45): Show c.394-21628_394-21603dupTTTTAAATAAGCATAGTTGCTTATTT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF3_chr2_109124205_109509634	109249532	T T	TTTCTTTT others(19): Show TTTCTTTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0110 a0001c0005t0017g0111 a0001c0005t0017g0110 a0001c0005t0017g0111	2	98	0.0204	26	c.574 others(45): Show c.574-98139_574-98138insTTTTTCTTTCTTTCTTTCCTTCCTTC	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02886.hp1 others(3): Show HG02055.hp2 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022 a0001c0001t0056 a0002c0002t0004	a0001c0001t0002g0088 a0001c0001t0003g0134 a0001c0001t0009g0147 others(3): Show a0001c0001t0002g0088 a0001c0001t0003g0134 a0001c0001t0009g0147 a0001c0001t0022g0149 a0001c0001t0056g0153 a0002c0002t0004g0160	6	55	0.1091	26	c.214 others(45): Show c.2148+9087_2148+9112dupGAGAGAGAGAGAGAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8237419	A A	ATGCCTGC others(19): Show ATGCCTGCTCCTGAGGGGCCTGTGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02056.hp2 others(13): Show HG01109.hp1 HG01891.hp1 HG02056.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 NA18954.hp1 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0019	a0001c0001 a0001c0002 a0001c0033 others(8): Show a0001c0001 a0001c0002 a0001c0033 a0001c0035 a0001c0037 a0001c0044 a0001c0083 a0001c0090 a0002c0006 a0006c0032 a0019c0074	a0001c0001t0001 a0001c0002t0001 a0001c0033t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0033t0001 a0001c0035t0001 a0001c0035t0003 a0001c0037t0003 a0001c0044t0001 a0001c0083t0003 a0001c0090t0003 a0002c0006t0001 a0006c0032t0001 a0006c0032t0002 a0019c0074t0001	a0001c0001t0001g0231 a0001c0001t0001g0352 a0001c0002t0001g0216 others(13): Show a0001c0001t0001g0231 a0001c0001t0001g0352 a0001c0002t0001g0216 a0001c0033t0001g0106 a0001c0033t0001g0326 a0001c0035t0001g0123 a0001c0035t0003g0124 a0001c0037t0003g0354 a0001c0037t0003g0356 a0001c0044t0001g0319 a0001c0083t0003g0330 a0001c0090t0003g0077 a0002c0006t0001g0203 a0006c0032t0001g0016 a0006c0032t0002g0017 a0019c0074t0001g0110	16	372	0.0430	26	c.355 others(41): Show c.3557-48_3557-47insTCCTGAGGGGCCTGTGCCCTGCCTGC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01243.hp1 others(8): Show HG00642.hp2 HG01081.hp1 HG01243.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02717.hp1 HG03098.hp1 HG03492.hp1 HG03516.hp2 HG03831.hp2	a0001 a0011 a0015 a0001 a0011 a0015	a0001c0003 a0001c0004 a0001c0010 others(2): Show a0001c0003 a0001c0004 a0001c0010 a0011c0023 a0015c0025	a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 others(6): Show a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0110 a0001c0004t0008 a0001c0010t0001 a0011c0023t0012 a0015c0025t0004	a0001c0003t0004g0099 a0001c0003t0004g0100 a0001c0003t0004g0193 others(8): Show a0001c0003t0004g0099 a0001c0003t0004g0100 a0001c0003t0004g0193 a0001c0003t0006g0168 a0001c0003t0007g0075 a0001c0003t0010g0169 a0001c0003t0110g0313 a0001c0004t0008g0064 a0001c0010t0001g0285 a0011c0023t0012g0082 a0015c0025t0004g0282	11	98	0.1122	26	c.576 others(43): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG03710.hp1 others(1): Show HG02258.hp1 HG03225.hp1 HG03710.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0013 a0002c0001 a0001c0003 a0001c0013 a0002c0001	a0001c0003t0102 a0001c0013t0024 a0002c0001t0055 a0001c0003t0102 a0001c0013t0024 a0002c0001t0055	a0001c0003t0102g0303 a0001c0013t0024g0123 a0001c0013t0024g0137 others(1): Show a0001c0003t0102g0303 a0001c0013t0024g0123 a0001c0013t0024g0137 a0002c0001t0055g0033	4	270	0.0148	26	c.196 others(45): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHARPIN_chr8_144093637_144108773	144107619	C C	CCTGATGC others(19): Show CCTGATGCGGTGTGGGGGTGGGGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp2 others(7): Show HG00099.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01123.hp2 HG01496.hp2 HG03453.hp1 HG04199.hp1 NA19076.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0017 a0001c0002 a0007c0017	a0001c0002t0001 a0007c0017t0001 a0001c0002t0001 a0007c0017t0001	a0001c0002t0001g0004 a0001c0002t0001g0018 a0007c0017t0001g0068 a0001c0002t0001g0004 a0001c0002t0001g0018 a0007c0017t0001g0068	10	332	0.0301	26	c.-38 others(37): Show c.-3892_-3867dupCAGGCCCCACCCCCACACCGCATCAG	SHARPIN	ENSG00000179526.17	transcript	ENST00000398712.7	protein_coding		3847		chr8	TogoVar
SHC4_chr15_48818741_48968919	48897756	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	48	0.0208	26	c.657 others(43): Show c.657-6971_657-6946dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp1 HG01361.hp2 others(5): Show HG00438.hp1 HG01109.hp1 HG01361.hp2 HG02055.hp1 HG02258.hp2 NA18943.hp2 NA19010.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0098 a0001c0001t0001g0152 a0001c0001t0001g0361 others(5): Show a0001c0001t0001g0098 a0001c0001t0001g0152 a0001c0001t0001g0361 a0001c0001t0001g0373 a0001c0001t0002g0034 a0001c0001t0004g0037 a0001c0001t0023g0150 a0001c0001t0024g0025	8	52	0.1538	26	c.656 others(43): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(19): Show GAAAGGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	125	0.0080	26	c.118 others(45): Show c.1182+4945_1182+4946insTCTTTCTTTCTTTCTTTCTTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924976	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	288	0.0035	26	c.118 others(45): Show c.1182+4670_1182+4671insCTTTCTTTCTTTCTTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0007 a0001c0001t0030g0007	1	82	0.0122	26	c.799 others(45): Show c.799+13755_799+13756insTCTCTCTCTCACACACACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12970393	A A	ATATATAT others(19): Show ATATATATACATATATATACATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0185 a0001c0002t0006g0185	1	209	0.0048	26	c.691 others(45): Show c.691+53586_691+53587insCATATATATACATATATGTATATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12970395	A A	ATATATAC others(19): Show ATATATACATATATATATACATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0184 a0001c0002t0009g0184	1	214	0.0047	26	c.691 others(45): Show c.691+53586_691+53587insCATATATATATACATATATGTATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015890	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03017.hp2 NA20129.hp1 HG01255.hp2 HG03017.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0001t0094 a0001c0003t0008 a0001c0001t0025 a0001c0001t0094 a0001c0003t0008	a0001c0001t0025g0010 a0001c0001t0094g0101 a0001c0003t0008g0001 a0001c0001t0025g0010 a0001c0001t0094g0101 a0001c0003t0008g0001	3	206	0.0146	26	c.691 others(45): Show c.691+99094_691+99095insCTTTCTTTTTCTTTCTTTCTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13198202	A A	ATGTGTGT others(19): Show ATGTGTGTATATGCATACATATATACT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	136	0.0074	26	c.692 others(43): Show c.692-5058_692-5033dupGTGTATATGCATACATATATACTTGT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0089 a0001c0001t0006g0089	1	162	0.0062	26	c.80 others(37): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02080.hp2 HG03516.hp1 others(1): Show HG01109.hp2 HG02080.hp2 HG03516.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0001t0087 a0001c0002t0009 others(1): Show a0001c0001t0032 a0001c0001t0087 a0001c0002t0009 a0001c0002t0014	a0001c0001t0032g0328 a0001c0001t0087g0103 a0001c0002t0009g0325 others(1): Show a0001c0001t0032g0328 a0001c0001t0087g0103 a0001c0002t0009g0325 a0001c0002t0014g0049	4	108	0.0370	26	c.600 others(45): Show c.600-11393_600-11392insTATATATATATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02738.hp1 NA18952.hp1 HG01109.hp1 HG02738.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0161 a0001c0001t0004g0220 a0001c0001t0005g0291 a0001c0001t0002g0161 a0001c0001t0004g0220 a0001c0001t0005g0291	3	146	0.0205	26	c.600 others(45): Show c.600-16869_600-16844dupCACACACACACACACACACACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5764158	T T	TTATATAT others(19): Show TTATATATATATATATATATTTTTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02723.hp2 others(5): Show HG02055.hp1 HG02145.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0001t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0002g0134 others(5): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0256 a0001c0002t0002g0274 a0001c0002t0005g0038 a0001c0002t0005g0311	8	165	0.0485	26	c.-4- others(41): Show c.-4-8687_-4-8686insATTTTTATATATATATATATATATAT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOC1_chr9_111681171_111799937	111793622	A A	ATGGTTAG others(19): Show ATGGTTAGAGAGAGGGTAATTTAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00642.hp2 others(29): Show HG00140.hp1 HG00408.hp2 HG00642.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02300.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp2 HG03834.hp1 NA18998.hp2 NA19043.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0003 a0008 a0015 others(1): Show a0003 a0008 a0015 a0017	a0003c0003 a0008c0009 a0015c0029 others(1): Show a0003c0003 a0008c0009 a0015c0029 a0017c0016	a0003c0003t0002 a0008c0009t0001 a0015c0029t0002 others(1): Show a0003c0003t0002 a0008c0009t0001 a0015c0029t0002 a0017c0016t0002	a0003c0003t0002g0011 a0003c0003t0002g0020 a0003c0003t0002g0077 others(28): Show a0003c0003t0002g0011 a0003c0003t0002g0020 a0003c0003t0002g0077 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0111 a0008c0009t0001g0084 a0008c0009t0001g0100 a0008c0009t0001g0101 a0008c0009t0001g0102 a0008c0009t0001g0103 a0008c0009t0001g0104 a0008c0009t0001g0107 a0015c0029t0002g0089 a0017c0016t0002g0081	32	293	0.1092	26	c.-37 others(43): Show c.-37+1252_-37+1277dupATTTTAAATTACCCTCTCTCTAACCA	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	1/27			chr9	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA18968.hp1 HG02886.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0001 a0001c0001t0006g0009 a0001c0001t0002g0001 a0001c0001t0006g0009	2	62	0.0323	26	c.-57 others(35): Show c.-573_-548dupCTCTCTCTCTCTCTCTCTCTCTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		152		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	127	0.0079	26	c.118 others(43): Show c.1182-673_1182-672insTATATATATATACACACACACACACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72765530	C C	CATACATA others(19): Show CATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0208 a0007c0007t0001g0208	1	134	0.0075	26	c.118 others(47): Show c.1182-14695_1182-14694insATATATATATATATATATATATGT AT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(19): Show AATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19043.hp1 NA20129.hp1 HG03540.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0035 a0002c0003 a0004c0004 a0001c0035 a0002c0003 a0004c0004	a0001c0035t0002 a0002c0003t0001 a0004c0004t0001 a0001c0035t0002 a0002c0003t0001 a0004c0004t0001	a0001c0035t0002g0032 a0002c0003t0001g0196 a0004c0004t0001g0131 a0001c0035t0002g0032 a0002c0003t0001g0196 a0004c0004t0001g0131	3	33	0.0909	26	c.324 others(45): Show c.324-63928_324-63927insAATATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76651401	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0032 a0004c0004t0032	a0004c0004t0032g0208 a0004c0004t0032g0208	1	4	0.2500	26	c.324 others(45): Show c.324-58735_324-58710dupTATATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76676944	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0013 a0005c0011t0013	a0005c0011t0013g0031 a0005c0011t0013g0031	1	126	0.0079	26	c.324 others(45): Show c.324-33189_324-33188insAAAAAAAAAAAAAAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681594	G G	GGGGTGTG others(19): Show GGGGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0013 a0005c0011t0013	a0005c0011t0013g0031 a0005c0011t0013g0031	1	181	0.0055	26	c.324 others(45): Show c.324-28561_324-28560insGGTGTGTGTGTGTGTGTGTGTGTGTG	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(19): Show GTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG02451.hp2 others(9): Show HG00639.hp1 HG01952.hp2 HG02451.hp2 HG03688.hp2 NA18939.hp2 NA18964.hp2 NA18978.hp1 NA18980.hp2 NA18993.hp2 NA19056.hp2 NA19063.hp1 NA19079.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0005c0013	a0001c0001t0002 a0001c0001t0012 a0002c0003t0001 others(2): Show a0001c0001t0002 a0001c0001t0012 a0002c0003t0001 a0003c0002t0001 a0005c0013t0031	a0001c0001t0002g0087 a0001c0001t0002g0136 a0001c0001t0002g0153 others(9): Show a0001c0001t0002g0087 a0001c0001t0002g0136 a0001c0001t0002g0153 a0001c0001t0012g0025 a0001c0001t0012g0078 a0002c0003t0001g0013 a0002c0003t0001g0177 a0003c0002t0001g0015 a0003c0002t0001g0098 a0003c0002t0001g0116 a0003c0002t0001g0150 a0005c0013t0031g0061	12	40	0.3000	26	c.324 others(45): Show c.324-28522_324-28521insGTGTGTGTGTGTATGTATGTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0205 a0003c0002t0003g0205	1	150	0.0067	26	c.588 others(43): Show c.588-2892_588-2891insAAAATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0003 a0003c0028t0003	a0003c0028t0003g0202 a0003c0028t0003g0202	1	150	0.0067	26	c.588 others(43): Show c.588-2892_588-2891insAATATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50610352	T T	TCTCTCTC others(19): Show TCTCTCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG02486.hp1 others(2): Show HG01081.hp2 HG01884.hp1 HG02486.hp1 HG02922.hp2 HG03453.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0006 a0003c0004 a0005c0006	a0003c0004t0001 a0003c0004t0006 a0005c0006t0005 a0003c0004t0001 a0003c0004t0006 a0005c0006t0005	a0003c0004t0001g0083 a0003c0004t0006g0047 a0003c0004t0006g0128 others(2): Show a0003c0004t0001g0083 a0003c0004t0006g0047 a0003c0004t0006g0128 a0005c0006t0005g0140 a0005c0006t0005g0141	5	105	0.0476	26	c.295 others(45): Show c.2958-2169_2958-2168insTGTGTGTGTGTGTGTGTGAGAGAGAG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50610352	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 NA18906.hp1 others(1): Show HG02922.hp1 HG03195.hp2 NA18906.hp1 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0006 a0003c0004t0007 a0003c0004t0004 a0003c0004t0006 a0003c0004t0007	a0003c0004t0004g0043 a0003c0004t0004g0089 a0003c0004t0006g0045 others(1): Show a0003c0004t0004g0043 a0003c0004t0004g0089 a0003c0004t0006g0045 a0003c0004t0007g0019	4	104	0.0385	26	c.295 others(45): Show c.2958-2169_2958-2168insTGTGTGTGTGTGTGTGAGAGAGAGAG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHTN1_chr10_116876477_117010187	116893576	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp1 HG01258.hp1 others(30): Show HG00544.hp2 HG01074.hp1 HG01258.hp1 HG01891.hp2 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03225.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp2 NA18948.hp1 NA18952.hp2 NA18956.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19078.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0037 a0001c0001t0039 a0001c0001t0054 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067	a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0053 others(30): Show a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0004g0016 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0006g0037 a0001c0001t0006g0054 a0001c0001t0006g0083 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0012g0030 a0001c0001t0012g0031 a0001c0001t0018g0117 a0001c0001t0019g0018 a0001c0001t0019g0019 a0001c0001t0019g0020 a0001c0001t0025g0151 a0001c0001t0027g0040 a0001c0001t0037g0093 a0001c0001t0039g0154 a0001c0001t0054g0092 a0001c0001t0062g0155 a0001c0001t0064g0029 a0001c0001t0067g0038	33	34	0.9706	26	c.167 others(45): Show c.1674-7011_1674-7010insTGTGTGTGTGTGTGTGTGTGTGTGTG	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SHTN1_chr10_116876477_117010187	116893576	G G	GCGCACAC others(19): Show GCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG04115.hp1 NA18993.hp1 others(1): Show HG00408.hp1 HG04115.hp1 NA18993.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0061 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0061 a0001c0001t0068	a0001c0001t0001g0097 a0001c0001t0005g0196 a0001c0001t0061g0108 others(1): Show a0001c0001t0001g0097 a0001c0001t0005g0196 a0001c0001t0061g0108 a0001c0001t0068g0015	4	5	0.8000	26	c.167 others(45): Show c.1674-7011_1674-7010insTGTGTGTGTGTGTGTGTGTGTGTGCG	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SIAE_chr11_124628113_124678739	124644351	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0204 a0001c0005t0005g0204	1	205	0.0049	26	c.966 others(43): Show c.966+3013_966+3014insTTTTTTTTTTTTTTTTTTTTTTTTTT	SIAE	ENSG00000110013.13	transcript	ENST00000263593.8	protein_coding	7/9			chr11	TogoVar
SIAH3_chr13_45772242_45856753	45822520	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0035 a0001c0001t0088g0035	1	13	0.0769	26	c.135 others(45): Show c.135+28949_135+28974dupATATATATATATATATATATATATAT	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIAH3_chr13_45772242_45856753	45843032	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01978.hp2 others(6): Show HG00738.hp1 HG01106.hp1 HG01978.hp2 HG02273.hp2 HG03490.hp2 HG03942.hp1 HG04115.hp2 NA18953.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0058 a0001c0001t0084 a0001c0001t0096	a0001c0001t0001g0059 a0001c0001t0001g0159 a0001c0001t0001g0269 others(6): Show a0001c0001t0001g0059 a0001c0001t0001g0159 a0001c0001t0001g0269 a0001c0001t0003g0248 a0001c0001t0004g0162 a0001c0001t0007g0062 a0001c0001t0058g0262 a0001c0001t0084g0053 a0001c0001t0096g0161	9	212	0.0425	26	c.135 others(43): Show c.135+8462_135+8463insCACACACACACACACACACACACACA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	402659	G G	GCCCCGCT others(19): Show GCCCCGCTCACCCCTGCCCCGCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	169	0.0059	26	c.32 others(37): Show c.3236_*3237insGAGCGGCGGGGCAGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3056		chr11	TogoVar
SIK2_chr11_111597449_111735855	111692350	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0178 a0001c0001t0008g0178	1	7	0.1429	26	c.478 others(43): Show c.478+4201_478+4226dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results