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
SREBF2_chr22_41828105_41912305	41844027	A A	AAATACAC others(4): Show AAATACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	332	0.0030	11	c.88+ others(28): Show c.88+10670_88+10671insATACACACACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41906281	T T	TGGTGGGA others(4): Show TGGTGGGAGGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01891.hp1 others(6): Show HG00639.hp2 HG01243.hp1 HG01891.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG03139.hp1 HG03195.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0006 a0002c0002t0020 a0001c0001t0006 a0002c0002t0006 a0002c0002t0020	a0001c0001t0006g0021 a0002c0002t0006g0017 a0002c0002t0006g0018 others(6): Show a0001c0001t0006g0021 a0002c0002t0006g0017 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0006g0020 a0002c0002t0006g0022 a0002c0002t0006g0023 a0002c0002t0006g0024 a0002c0002t0020g0014	9	334	0.0269	11	c.62 others(20): Show c.624_*634dupTGGGAGGCAGG	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	19/19	635	INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1_chr5_66139300_66188615	66184223	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18968.hp2 NA18986.hp1 HG01243.hp1 NA18968.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0002g0090 a0001c0001t0002g0150 a0001c0001t0001g0082 a0001c0001t0002g0090 a0001c0001t0002g0150	3	11	0.2727	11	c.53 others(22): Show c.5355_*5356insTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding		609		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(4): Show CACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	11	c.-28 others(20): Show c.-287_-286insACACACACACA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp2 HG01978.hp2 others(4): Show HG01261.hp1 HG01891.hp2 HG01978.hp2 HG03540.hp1 NA18988.hp1 NA19003.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023	a0001c0001t0001g0018 a0001c0001t0002g0019 a0001c0001t0003g0009 others(1): Show a0001c0001t0001g0018 a0001c0001t0002g0019 a0001c0001t0003g0009 a0001c0001t0023g0018	7	179	0.0391	11	c.116 others(28): Show c.1162+568_1162+578dupTTTTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63900145	A A	ACTAAGCA others(4): Show ACTAAGCAATGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02809.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0102 a0001c0003t0088 a0001c0001t0102 a0001c0003t0088	a0001c0001t0102g0159 a0001c0003t0088g0160 a0001c0001t0102g0159 a0001c0003t0088g0160	2	168	0.0119	11	c.67+ others(28): Show c.67+55265_67+55275dupAAGCAATGCCT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(4): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG01261.hp2 HG01496.hp2 HG02698.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0011 a0001c0001t0075 a0001c0001t0122 others(4): Show a0001c0001t0011 a0001c0001t0075 a0001c0001t0122 a0001c0002t0034 a0001c0002t0041 a0001c0002t0046 a0001c0013t0043	a0001c0001t0011g0149 a0001c0001t0075g0131 a0001c0001t0122g0073 others(4): Show a0001c0001t0011g0149 a0001c0001t0075g0131 a0001c0001t0122g0073 a0001c0002t0034g0001 a0001c0002t0041g0153 a0001c0002t0046g0120 a0001c0013t0043g0155	7	67	0.1045	11	c.801 others(28): Show c.801+1114_801+1124dupTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64072148	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18984.hp1 HG03195.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0100 a0001c0002t0039 a0001c0001t0100 a0001c0002t0039	a0001c0001t0100g0123 a0001c0002t0039g0019 a0001c0001t0100g0123 a0001c0002t0039g0019	2	163	0.0123	11	c.112 others(30): Show c.1126-6771_1126-6770insTGTGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	8/21			chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64137961	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03579.hp2 HG02559.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0147 a0001c0001t0146 a0001c0001t0147	a0001c0001t0146g0132 a0001c0001t0147g0116 a0001c0001t0146g0132 a0001c0001t0147g0116	2	130	0.0154	11	c.288 others(30): Show c.2881-4333_2881-4332insATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64137961	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0016 a0001c0001t0145g0016	1	129	0.0078	11	c.288 others(30): Show c.2881-4334_2881-4333insTATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	21/21			chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64144836	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp1 HG02451.hp2 HG03098.hp2 others(1): Show HG01517.hp1 HG02451.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0077 a0001c0001t0078 a0001c0006t0083 others(1): Show a0001c0001t0077 a0001c0001t0078 a0001c0006t0083 a0001c0006t0084	a0001c0001t0077g0128 a0001c0001t0078g0057 a0001c0006t0083g0018 others(1): Show a0001c0001t0077g0128 a0001c0001t0078g0057 a0001c0006t0083g0018 a0001c0006t0084g0014	4	62	0.0645	11	c.21 others(22): Show c.2180_*2190dupTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	2191	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64150934	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 NA18971.hp2 NA19057.hp1 HG02132.hp1 NA18971.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0097 a0001c0001t0126 a0001c0001t0096 a0001c0001t0097 a0001c0001t0126	a0001c0001t0096g0022 a0001c0001t0097g0129 a0001c0001t0126g0043 a0001c0001t0096g0022 a0001c0001t0097g0129 a0001c0001t0126g0043	3	67	0.0448	11	c.82 others(22): Show c.8278_*8288dupAAAAAAAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	8289	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121180379	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02809.hp2 others(5): Show HG01884.hp1 HG02109.hp2 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03195.hp2 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0019 a0001c0003t0053 others(1): Show a0001c0003t0004 a0001c0003t0019 a0001c0003t0053 a0001c0003t0055	a0001c0003t0004g0257 a0001c0003t0004g0258 a0001c0003t0004g0259 others(5): Show a0001c0003t0004g0257 a0001c0003t0004g0258 a0001c0003t0004g0259 a0001c0003t0004g0260 a0001c0003t0004g0266 a0001c0003t0019g0255 a0001c0003t0053g0261 a0001c0003t0055g0262	8	247	0.0324	11	c.-52 others(22): Show c.-5288_-5287insAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		4595		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121235626	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19010.hp2 NA18957.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0142 a0001c0001t0001g0118 a0001c0001t0001g0142	2	90	0.0222	11	c.67+ others(28): Show c.67+48118_67+48128dupTTTTTTTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239212	A A	ATATATAT others(4): Show ATATATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0101 a0002c0002t0002g0101	1	250	0.0040	11	c.68- others(28): Show c.68-45581_68-45580insCTATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249581	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	219	0.0046	11	c.68- others(28): Show c.68-35222_68-35221insATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121285419	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0007 a0008c0013t0007	a0008c0013t0007g0246 a0008c0013t0007g0246	1	272	0.0037	11	c.260 others(26): Show c.260+430_260+431insACACAACACAC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp2 others(20): Show HG00099.hp2 HG00639.hp1 HG00735.hp2 HG01167.hp1 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01934.hp2 HG01978.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02572.hp1 HG02647.hp2 HG02738.hp2 HG02886.hp2 HG03654.hp2 HG04228.hp1 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA19088.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0008c0013t0007	a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0132 others(20): Show a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0001t0006g0150 a0001c0001t0013g0119 a0001c0001t0014g0220 a0008c0013t0007g0246	23	60	0.3833	11	c.423 others(28): Show c.423+6523_423+6533dupAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206254179	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp1 HG01243.hp2 others(6): Show HG00280.hp1 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG02055.hp2 HG02135.hp1 HG03041.hp2 HG03942.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0012 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0015 a0001c0003t0007 a0001c0004t0003 a0001c0004t0008 a0001c0006t0009	a0001c0001t0001g0010 a0001c0002t0002g0013 a0001c0002t0012g0036 others(6): Show a0001c0001t0001g0010 a0001c0002t0002g0013 a0001c0002t0012g0036 a0001c0002t0015g0075 a0001c0003t0007g0125 a0001c0003t0007g0144 a0001c0004t0003g0032 a0001c0004t0008g0065 a0001c0006t0009g0130	9	67	0.1343	11	c.67+ others(28): Show c.67+48149_67+48159dupTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02572.hp2 others(4): Show HG01884.hp1 HG02451.hp2 HG02572.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0005 a0001c0003t0004 a0001c0003t0007 others(2): Show a0001c0002t0005 a0001c0003t0004 a0001c0003t0007 a0001c0003t0022 a0001c0006t0009	a0001c0002t0005g0078 a0001c0003t0004g0073 a0001c0003t0004g0074 others(4): Show a0001c0002t0005g0078 a0001c0003t0004g0073 a0001c0003t0004g0074 a0001c0003t0004g0079 a0001c0003t0007g0144 a0001c0003t0022g0136 a0001c0006t0009g0130	7	57	0.1228	11	c.68- others(28): Show c.68-23692_68-23682dupTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206359798	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03654.hp1 HG03710.hp2 others(2): Show HG00621.hp1 HG03654.hp1 HG03710.hp2 NA18959.hp2 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0006 a0001c0003t0016 a0001c0003t0025 others(1): Show a0001c0003t0006 a0001c0003t0016 a0001c0003t0025 a0001c0013t0016	a0001c0003t0006g0172 a0001c0003t0006g0177 a0001c0003t0016g0076 others(2): Show a0001c0003t0006g0172 a0001c0003t0006g0177 a0001c0003t0016g0076 a0001c0003t0025g0031 a0001c0013t0016g0121	5	40	0.1250	11	c.423 others(30): Show c.423+16806_423+16816dupTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372956	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0169 a0001c0003t0007g0170 a0001c0003t0007g0169 a0001c0003t0007g0170	2	153	0.0131	11	c.424 others(30): Show c.424-11056_424-11055insCTTTCTTTCTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9138931	A A	ACTTATCT others(4): Show ACTTATCTGTTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01109.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01175.hp1 HG03139.hp1 HG03540.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0023 a0001c0002t0004 others(3): Show a0001c0001t0002 a0001c0001t0023 a0001c0002t0004 a0001c0002t0010 a0001c0004t0002 a0001c0004t0009	a0001c0001t0002g0187 a0001c0001t0023g0134 a0001c0002t0004g0092 others(5): Show a0001c0001t0002g0187 a0001c0001t0023g0134 a0001c0002t0004g0092 a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003 a0001c0004t0002g0070 a0001c0004t0009g0164	8	226	0.0354	11	c.68- others(28): Show c.68-14015_68-14014insCAACAGATAAG	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRGN_chr10_69083103_69109805	69091879	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01256.hp2 others(4): Show HG00140.hp1 HG00323.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG03710.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0185 a0001c0001t0003g0184 a0001c0001t0003g0186 others(4): Show a0001c0001t0001g0185 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190	7	302	0.0232	11	c.79+ others(26): Show c.79+3662_79+3672dupAAAAAAAAAAA	SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
SRMS_chr20_63533489_63552749	63543218	C C	CAGCCCCA others(4): Show CAGCCCCAGGGG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0088 a0022c0024t0001g0088	1	354	0.0028	11	c.645 others(24): Show c.645+85_645+95dupCCCCTGGGGCT	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding	3/7			chr20	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03239.hp2 HG02976.hp2 HG03239.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0058 a0001c0004t0001g0060	2	70	0.0286	11	c.211 others(26): Show c.211-272_211-262dupTTTTTTTTTTT	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP54_chr14_34977992_35034567	34988560	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	339	0.0029	11	c.-34 others(28): Show c.-34+5354_-34+5364dupAAAAAAAAAAA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	97	0.0103	11	c.-34 others(28): Show c.-34+5364_-34+5365insAAAAATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35011180	G G	GATCTGGC others(4): Show GATCTGGCCCGC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	394	0.0025	11	c.486 others(26): Show c.486-329_486-328insATCTGGCCCGC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15			chr14	TogoVar
SRP54_chr14_34977992_35034567	35014290	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	183	0.0055	11	c.886 others(26): Show c.886+392_886+393insTTTTTTGTTTT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76070880	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	358	0.0028	11	c.185 others(26): Show c.185-437_185-436insGTGTGTGTGTG	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56477297	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01123.hp1 HG01167.hp2 others(11): Show HG01071.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01496.hp2 HG01993.hp1 HG02004.hp2 HG02300.hp2 HG02572.hp2 NA18951.hp2 NA18978.hp2 NA19000.hp1 NA19055.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0005 a0001c0009t0011 a0001c0002t0005 a0001c0009t0011	a0001c0002t0005g0042 a0001c0002t0005g0043 a0001c0002t0005g0251 others(8): Show a0001c0002t0005g0042 a0001c0002t0005g0043 a0001c0002t0005g0251 a0001c0002t0005g0252 a0001c0002t0005g0260 a0001c0002t0005g0261 a0001c0002t0005g0268 a0001c0002t0005g0271 a0001c0002t0005g0272 a0001c0002t0005g0275 a0001c0009t0011g0044	14	306	0.0458	11	c.642 others(26): Show c.642+596_642+597insTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0008 a0004c0015t0008	a0004c0015t0008g0053 a0004c0015t0008g0053	1	134	0.0075	11	c.958 others(26): Show c.958-695_958-685dupTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35830704	G G	GTGTGTGT others(4): Show GTGTGTGTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG01891.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0299 a0001c0002t0002g0300	2	137	0.0146	11	c.45 others(22): Show c.4599_*4600insAAAAACACACA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		2261		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35830704	G G	GTGTGTTT others(4): Show GTGTGTTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG04184.hp2 NA18978.hp1 others(2): Show HG00558.hp2 HG04184.hp2 NA18978.hp1 NA19000.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0247 a0001c0002t0002g0272 a0001c0002t0002g0273 others(2): Show a0001c0002t0002g0247 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0284 a0001c0002t0004g0249	5	140	0.0357	11	c.45 others(22): Show c.4599_*4600insAATAAAACACA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		2261		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35830704	G G	GTGTGTTT others(4): Show GTGTGTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG02615.hp1 others(7): Show HG00621.hp1 HG02056.hp2 HG02615.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03491.hp1 HG03579.hp1 NA18948.hp1 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0230 a0001c0002t0002g0298 a0001c0002t0002g0307 others(7): Show a0001c0002t0002g0230 a0001c0002t0002g0298 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0323 a0001c0002t0007g0291	10	145	0.0690	11	c.45 others(22): Show c.4599_*4600insAAAAAAACACA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		2261		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAG others(4): Show AAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	88	0.0114	11	c.478 others(28): Show c.478+5981_478+5982insCTTTCTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK1_chr6_35827966_35926098	35921156	T T	TCCCGCCC others(4): Show TCCCGCCCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02622.hp2 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0225 a0001c0003t0004g0226 a0001c0003t0004g0225 a0001c0003t0004g0226	2	340	0.0059	11	c.-11 others(20): Show c.-111_-101dupGGTGGGGCGGG	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		59		chr6	TogoVar
SRPK2_chr7_105111374_105393921	105124640	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02622.hp2 others(3): Show HG02055.hp2 HG02145.hp1 HG02622.hp2 HG02976.hp2 HG03491.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0001t0001 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0199 a0001c0001t0005g0116 a0001c0002t0003g0039 a0001c0002t0003g0113	6	79	0.0759	11	c.191 others(30): Show c.1915+1597_1915+1607dupTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	15/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105127725	A A	ACCATTTG others(4): Show ACCATTTGTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0002t0003 a0003c0006t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(203): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0002g0130 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0280 a0001c0001t0003g0157 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0006g0137 a0001c0001t0006g0183 a0001c0001t0007g0010 a0001c0001t0008g0073 a0001c0001t0010g0086 a0001c0001t0011g0227 a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0003c0006t0001g0145 a0004c0005t0001g0276	206	280	0.7357	11	c.175 others(28): Show c.1753-664_1753-663insGGAACAAATGG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	13/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105159466	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03017.hp1 NA18949.hp2 others(3): Show HG01978.hp1 HG03017.hp1 NA18949.hp2 NA18975.hp2 NA19002.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 others(3): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0200	6	191	0.0314	11	c.621 others(28): Show c.621+1040_621+1041insGTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170915	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	249	0.0040	11	c.230 others(28): Show c.230-1651_230-1650insTTTCTTTCTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105245034	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02300.hp1 HG02080.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0229 a0001c0001t0001g0071 a0001c0001t0001g0229	2	10	0.2000	11	c.72- others(28): Show c.72-41250_72-41249insGTGTGTGTGTG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105280947	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	12	0.0833	11	c.72- others(28): Show c.72-77173_72-77163dupTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105287259	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19057.hp2 HG03491.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0039 a0001c0002t0003g0040	2	269	0.0074	11	c.72- others(28): Show c.72-83485_72-83475dupTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105312437	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18955.hp1 NA18977.hp1 others(1): Show HG03017.hp2 NA18955.hp1 NA18977.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0042 others(1): Show a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0042 a0001c0002t0003g0113	4	144	0.0278	11	c.71+ others(28): Show c.71+76200_71+76210dupTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105319504	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18985.hp2 HG04184.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0084 a0001c0001t0001g0101	2	74	0.0270	11	c.71+ others(28): Show c.71+69133_71+69143dupCCCCCCCCCCC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105341357	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	70	0.0143	11	c.71+ others(28): Show c.71+47280_71+47290dupTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105349522	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03225.hp2 HG02055.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0115 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0001g0115 a0001c0001t0005g0114 a0001c0001t0005g0116	3	186	0.0161	11	c.71+ others(28): Show c.71+39115_71+39125dupTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105359150	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18999.hp1 NA18965.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0041 a0001c0002t0003g0036 a0001c0002t0003g0041	2	36	0.0556	11	c.71+ others(28): Show c.71+29487_71+29497dupAAAAAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar

Search by Variant

Search

Search Results