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
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(37): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA19000.hp2 HG01168.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0095 a0002c0002t0182 a0001c0001t0095 a0002c0002t0182	a0001c0001t0095g0039 a0002c0002t0182g0333 a0001c0001t0095g0039 a0002c0002t0182g0333	2	167	0.0120	44	c.354 others(59): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(37): Show GTGTATATATATATGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0129 a0002c0012t0001g0129	1	175	0.0057	44	c.186 others(63): Show c.1868-3535_1868-3534insTATATATATATATATATATATATATA CACACATATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38995799	G G	GTCTATCT others(37): Show GTCTATCTATCTGTCTGTCTGTCTATCTATCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	274	0.0036	44	c.-27 others(65): Show c.-279-35377_-279-35376insTAGATAGACAGACAGATAGATAGA CAGACAGACAGATAGATAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166072789	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19057.hp2 NA18964.hp1 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0307 a0002c0002t0010g0309 a0002c0002t0010g0307 a0002c0002t0010g0309	2	207	0.0097	44	c.264 others(59): Show c.264+568_264+569insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	4/28			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444872	T T	TATACATA others(37): Show TATACATACATATATTCGTACGAATATACACATATATTCGTACGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	288	0.0035	44	c.114 others(63): Show c.1140+1886_1140+1887insTCGTACGAATATATGTGTATATTCGT ACGAATATATGTATGTAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43192616	A A	ATATATGT others(37): Show ATATATGTGTATATATATATACACATGTATATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03130.hp2 HG03471.hp2 HG02717.hp1 HG03130.hp2 HG03471.hp2	a0002 a0005 a0002 a0005	a0002c0014 a0005c0030 a0002c0014 a0005c0030	a0002c0014t0014 a0005c0030t0014 a0002c0014t0014 a0005c0030t0014	a0002c0014t0014g0258 a0005c0030t0014g0238 a0005c0030t0014g0239 a0002c0014t0014g0258 a0005c0030t0014g0238 a0005c0030t0014g0239	3	276	0.0109	44	c.11 others(57): Show c.11380_*11381insCGTATATATATATATATACATGTGTATATATA TATACACATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4663		chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0202 a0003c0003t0005g0202	1	121	0.0083	44	c.120 others(61): Show c.1208-967_1208-966insAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCYGR8_chr2_227740894_227751220	227749841	A A	ATCCTTCC others(37): Show ATCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18981.hp2 NA18964.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	53	0.0377	44	c.36 others(55): Show c.3621_*3622insTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		3622		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227749841	A A	ATCCTTCC others(37): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(59): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG01168.hp2 HG01261.hp2 HG02015.hp1 HG02074.hp1 HG02135.hp1 HG02451.hp2 HG02523.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03669.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18976.hp1 NA18980.hp2 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001	a0001c0001t0001g0000 a0001c0005t0001g0000 a0002c0002t0001g0000 others(3): Show a0001c0001t0001g0000 a0001c0005t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 a0005c0006t0001g0000	62	113	0.5487	44	c.36 others(55): Show c.3621_*3622insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		3622		chr2	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	72	0.0139	44	c.-32 others(55): Show c.-3205_-3204insATATATATATATATATATATATATATATATATAT ATATATTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(37): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp1 HG01515.hp1 HG00733.hp1 HG01123.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0076 a0001c0003t0001g0043 a0001c0003t0001g0054 a0001c0001t0002g0076 a0001c0003t0001g0043 a0001c0003t0001g0054	3	76	0.0395	44	c.61- others(61): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDHAF1_chr19_35990188_36001312	35998814	C C	CTACTAAA others(37): Show CTACTAAAAATATAAAAAATTACTAAAAATTATAAAATTTAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0000 a0001c0002t0007g0000	1	390	0.0026	44	c.31 others(55): Show c.3192_*3193insTACTAAAAATATAAAAAATTACTAAAAATTATAA AATTTAAAAT	SDHAF1	ENSG00000205138.4	transcript	ENST00000378887.4	protein_coding		2503		chr19	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0084 a0001c0002t0040g0084	1	88	0.0114	44	c.301 others(63): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTGTGTGTGTATAT ATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4204998	G G	GTGTGGTG others(37): Show GTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0077 a0001c0037t0002g0077	1	63	0.0159	44	c.509 others(61): Show c.5099-875_5099-874insGAGGCGCGGAGGAGGTGCGGCCACACCC CTAATGGCGATGTGGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0015 a0002c0030t0015	a0002c0030t0015g0095 a0002c0030t0015g0095	1	172	0.0058	44	c.559 others(63): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT ATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATACA others(37): Show TATATACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0098 a0001c0002t0004g0098	1	12	0.0833	44	c.116 others(63): Show c.1165+1199_1165+1200insTATACACACACACACACACACACACA CACACACACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(37): Show TATATATATATACACATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0003 a0006c0014t0003	a0006c0014t0003g0112 a0006c0014t0003g0112	1	12	0.0833	44	c.116 others(63): Show c.1165+1199_1165+1200insTATATATATACACATATACACACACA CACACACACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	36	0.0278	44	c.296 others(61): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG02258.hp2 others(3): Show HG00140.hp2 HG00741.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02976.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0009 others(1): Show a0001c0001 a0001c0003 a0002c0009 a0010c0016	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0003t0009 a0002c0009t0003 a0010c0016t0002	a0001c0001t0002g0102 a0001c0001t0009g0124 a0001c0001t0010g0129 others(3): Show a0001c0001t0002g0102 a0001c0001t0009g0124 a0001c0001t0010g0129 a0001c0003t0009g0027 a0002c0009t0003g0278 a0010c0016t0002g0141	6	248	0.0242	44	c.19 others(55): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT ATATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0092 a0001c0001t0015g0092	1	82	0.0122	44	c.207 others(65): Show c.2073+19480_2073+19481insGTGTGTGTGTGTATATATATATAT ATATATATATATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9188771	A A	ATCCTGTC others(37): Show ATCCTGTCTGCAGTCTCATAAACAAGAAGACAGTGCAATGGTAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp2 HG02451.hp1 others(39): Show HG00280.hp1 HG01884.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG06807.hp2 NA18944.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18989.hp1 NA18991.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0021 a0001c0022 a0004c0019 a0005c0020	a0001c0001t0018 a0001c0001t0053 a0001c0003t0001 others(34): Show a0001c0001t0018 a0001c0001t0053 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0003t0012 a0001c0003t0019 a0001c0003t0041 a0001c0003t0051 a0001c0003t0072 a0001c0003t0079 a0001c0003t0080 a0001c0004t0001 a0001c0004t0049 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0005t0042 a0001c0005t0048 a0001c0005t0052 a0001c0005t0065 a0001c0006t0044 a0001c0007t0012 a0001c0007t0016 a0001c0008t0001 a0001c0008t0004 a0001c0008t0027 a0001c0009t0001 a0001c0009t0002 a0001c0011t0037 a0001c0021t0020 a0001c0022t0055 a0004c0019t0059 a0005c0020t0071	a0001c0001t0018g0098 a0001c0001t0053g0080 a0001c0003t0001g0027 others(39): Show a0001c0001t0018g0098 a0001c0001t0053g0080 a0001c0003t0001g0027 a0001c0003t0002g0102 a0001c0003t0003g0031 a0001c0003t0005g0021 a0001c0003t0006g0047 a0001c0003t0006g0074 a0001c0003t0010g0048 a0001c0003t0012g0068 a0001c0003t0019g0104 a0001c0003t0041g0016 a0001c0003t0051g0079 a0001c0003t0072g0124 a0001c0003t0079g0126 a0001c0003t0080g0132 a0001c0004t0001g0030 a0001c0004t0049g0011 a0001c0005t0001g0005 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0002g0115 a0001c0005t0007g0082 a0001c0005t0007g0086 a0001c0005t0042g0070 a0001c0005t0048g0022 a0001c0005t0052g0097 a0001c0005t0065g0123 a0001c0006t0044g0009 a0001c0007t0012g0064 a0001c0007t0016g0095 a0001c0008t0001g0046 a0001c0008t0004g0066 a0001c0008t0027g0035 a0001c0009t0001g0045 a0001c0009t0002g0113 a0001c0011t0037g0065 a0001c0021t0020g0004 a0001c0022t0055g0081 a0004c0019t0059g0089 a0005c0020t0071g0108	42	132	0.3182	44	c.127 others(63): Show c.1273+1495_1273+1496insATTACCATTGCACTGTCTTCTTGTTT ATGAGACTGCAGACAGGA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	11/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353072	A A	AGGAAAGG others(37): Show AGGAAAGGAAAGGAAGGAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0082 a0001c0005t0007g0082	1	131	0.0076	44	c.125 others(63): Show c.125-15261_125-15260insCTTTCCTTTCCTTTCCTTTCCTTTCC TTCCTTCCTTTCCTTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116524775	C C	CACACACA others(37): Show CACACACACACACAGACACACACACACACAGACACACACACACAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	85	0.0118	44	c.-38 others(63): Show c.-38-19794_-38-19793insCTGTGTGTGTGTGTCTGTGTGTGTGT GTGTCTGTGTGTGTGTGT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116579517	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	11	0.0909	44	c.-53 others(55): Show c.-5372_-5371insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding		4695		chr5	TogoVar
SEMA7A_chr15_74404289_74438958	74429365	T T	TCCCCCCC others(37): Show TCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCTCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	402	0.0025	44	c.178 others(61): Show c.178+4375_178+4376insGGGGGGGGGGGGGAGGGGGGGGGAGGGG GGGGGGGGGGGGGGGG	SEMA7A	ENSG00000138623.10	transcript	ENST00000261918.9	protein_coding	1/13			chr15	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0384	1	158	0.0063	44	c.553 others(61): Show c.553-3542_553-3541insGTGTATATATATATATATATATATATAT ATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19005.hp1 NA18951.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0112 a0001c0001t0001g0064 a0001c0001t0001g0112	2	159	0.0126	44	c.553 others(61): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT ATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP7_chr3_101319205_101518212	101364228	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0009	1	121	0.0083	44	c.147 others(61): Show c.1476+605_1476+606insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	10/23			chr3	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	147	0.0068	44	c.720 others(61): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169495	T T	TTATATAT others(37): Show TTATATATAATATACAGTATAATATATATAATATACAGTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	211	0.0047	44	c.-13 others(55): Show c.-1358_-1357insTAATATACTGTATATTATATATATTATACTGTAT ATTATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1234		chr6	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0200 a0001c0001t0034g0200	1	223	0.0045	44	c.304 others(59): Show c.304-517_304-516insTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19043.hp1 HG02486.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0039 a0003c0004t0006g0039	2	224	0.0089	44	c.304 others(59): Show c.304-519_304-518insTTCTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01515.hp2 HG03017.hp2 HG00642.hp2 HG01515.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0005g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0005g0067	3	379	0.0079	44	c.-17 others(63): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	25	0.0400	44	c.676 others(61): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SEZ6L_chr22_26164462_26388596	26244163	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	183	0.0055	44	c.95- others(61): Show c.95-48220_95-48219insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0196 a0001c0003t0004g0196	1	144	0.0069	44	c.240 others(61): Show c.2407+655_2407+656insGGAAGGAAGGAAGGGAGGAAAGAAAGAA AGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0121 a0001c0021t0002g0121	1	144	0.0069	44	c.240 others(61): Show c.2407+655_2407+656insGGAAGGAAGGGAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348748	A A	AGGAAGGG others(37): Show AGGAAGGGAGGGGGAGGGAAGGGGAGGGAAGGAGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(115): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18946.hp2 NA18960.hp1 NA18962.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(22): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0025 a0001c0029 a0001c0030 a0001c0035 a0001c0036 a0002c0002 a0002c0005 a0002c0017 a0002c0022 a0003c0004 a0004c0013 a0004c0014 a0004c0015 a0005c0011 a0006c0016 a0007c0019 a0008c0031 a0009c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0025 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0003t0027 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0003 a0001c0007t0006 a0001c0008t0005 a0001c0009t0002 a0001c0009t0003 a0001c0009t0006 a0001c0010t0002 a0001c0025t0006 a0001c0029t0023 a0001c0030t0001 a0001c0035t0003 a0001c0036t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0005t0004 a0002c0005t0005 a0002c0005t0013 a0002c0017t0001 a0002c0017t0008 a0002c0022t0001 a0003c0004t0001 a0003c0004t0004 a0003c0004t0006 a0004c0013t0002 a0004c0013t0013 a0004c0014t0001 a0004c0014t0028 a0004c0015t0001 a0005c0011t0006 a0006c0016t0002 a0007c0019t0003 a0008c0031t0001 a0009c0028t0016	a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0115 others(114): Show a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0211 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0002g0127 a0001c0001t0002g0135 a0001c0001t0002g0141 a0001c0001t0002g0169 a0001c0001t0002g0201 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0003g0033 a0001c0001t0003g0048 a0001c0001t0003g0069 a0001c0001t0003g0083 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0143 a0001c0001t0003g0165 a0001c0001t0003g0214 a0001c0001t0003g0221 a0001c0001t0003g0236 a0001c0001t0004g0172 a0001c0001t0005g0030 a0001c0001t0005g0056 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0068 a0001c0001t0005g0078 a0001c0001t0005g0125 a0001c0001t0005g0132 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0216 a0001c0001t0005g0224 a0001c0001t0006g0040 a0001c0001t0006g0053 a0001c0001t0006g0058 a0001c0001t0006g0060 a0001c0001t0006g0219 a0001c0001t0008g0140 a0001c0001t0008g0174 a0001c0001t0011g0081 a0001c0001t0025g0237 a0001c0003t0001g0233 a0001c0003t0002g0001 a0001c0003t0002g0041 a0001c0003t0002g0051 a0001c0003t0003g0052 a0001c0003t0010g0025 a0001c0003t0016g0171 a0001c0003t0027g0156 a0001c0006t0001g0002 a0001c0006t0002g0089 a0001c0007t0001g0152 a0001c0007t0003g0230 a0001c0007t0003g0231 a0001c0007t0006g0161 a0001c0007t0006g0163 a0001c0008t0005g0082 a0001c0009t0002g0170 a0001c0009t0003g0112 a0001c0009t0006g0113 a0001c0010t0002g0032 a0001c0010t0002g0238 a0001c0010t0002g0239 a0001c0025t0006g0118 a0001c0029t0023g0206 a0001c0030t0001g0123 a0001c0035t0003g0047 a0001c0036t0015g0225 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0099 a0002c0002t0001g0108 a0002c0002t0002g0188 a0002c0002t0003g0042 a0002c0002t0006g0034 a0002c0002t0006g0061 a0002c0002t0006g0173 a0002c0002t0008g0094 a0002c0005t0004g0180 a0002c0005t0005g0204 a0002c0005t0005g0205 a0002c0005t0013g0203 a0002c0017t0001g0107 a0002c0017t0008g0106 a0002c0022t0001g0193 a0003c0004t0001g0101 a0003c0004t0004g0159 a0003c0004t0006g0178 a0004c0013t0002g0006 a0004c0013t0013g0009 a0004c0014t0001g0007 a0004c0014t0028g0008 a0004c0015t0001g0010 a0004c0015t0001g0011 a0005c0011t0006g0105 a0006c0016t0002g0120 a0007c0019t0003g0079 a0007c0019t0003g0080 a0008c0031t0001g0162 a0009c0028t0016g0139	118	231	0.5108	44	c.240 others(61): Show c.2407+866_2407+867insAGAGGGAAGGGAGGGAAGGGAGGGGGAG GGAAGGGGAGGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp2 NA18942.hp1 HG00280.hp2 HG01261.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0068 a0001c0001t0001g0159 a0001c0001t0001g0171	3	35	0.0857	44	c.240 others(63): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFTPB_chr2_85652314_85673199	85666495	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTTTGTGTCTGGCCGGCTTGGGTGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	413	0.0024	44	c.393 others(59): Show c.393+121_393+122insGCACCCAAGCCGGCCAGACACAAACACACA CACACACACACACA	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(37): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	194	0.0052	44	c.819 others(59): Show c.819-108_819-107insGCGCGCGCGCGCACACACACACACACACAC ACACACACACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SGCD_chr5_156322164_156772788	156423223	T T	TATTATAT others(37): Show TATTATATTATAATATAATATAATATTATATTTTATTATAATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG02922.hp2 others(5): Show HG02258.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0036 others(1): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0036 a0001c0001t0042	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0040 others(5): Show a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0066 a0001c0001t0022g0064 a0001c0001t0036g0043 a0001c0001t0042g0065	8	148	0.0541	44	c.192 others(63): Show c.192+78548_192+78549insTATATTATAATATAATATAATATTAT ATTTTATTATAATATAAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(37): Show AAAGAAAGAAGGAAAGAAAGAAGGAAAGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19011.hp1 NA18522.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0004g0002 a0001c0004t0001g0089 a0001c0001t0004g0002 a0001c0004t0001g0089	2	21	0.0952	44	c.75- others(59): Show c.75-2165_75-2164insAGAAAGAAGGAAAGAAAGAAGGAAAGAAGG GAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGACAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	139	0.0072	44	c.460 others(59): Show c.460-498_460-497insAAGAAAGAAAGAAAGACAGGAAGGAAGGAA GGAAGGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAGGAAAG others(37): Show AAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0249 a0002c0002t0007g0249	1	139	0.0072	44	c.460 others(59): Show c.460-498_460-497insAGGAAAGAAAGAAAGAAAGAAAGACAGGAA GGAAGGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	63	0.0159	44	c.286 others(63): Show c.286-25026_286-24983dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66720781	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0059 a0001c0002t0006g0059	1	76	0.0132	44	c.-12 others(63): Show c.-122+7962_-122+7963insTATATATATATATATATATATATATA TATATATATATATATATA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(37): Show GTATATATATATATATGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG04115.hp1 others(2): Show HG00408.hp2 HG00738.hp2 HG04115.hp1 NA19056.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0001c0001t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0003g0067 a0001c0001t0003g0226 a0001c0001t0003g0240 others(2): Show a0001c0001t0003g0067 a0001c0001t0003g0226 a0001c0001t0003g0240 a0001c0001t0005g0242 a0001c0002t0003g0241	5	26	0.1923	44	c.-58 others(65): Show c.-589+15189_-589+15190insTATATATATATATATATATATATA TACACATATATATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGPP2_chr2_222419543_222567621	222435029	T T	TATATATA others(37): Show TATATATATGTGTATATATACACATATATATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	264	0.0038	44	c.219 others(63): Show c.219+10227_219+10228insCACATATATATGTGTATATATACACA TATATATGTGTATATATA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM1_chr22_24801211_24932578	24900385	T T	TTCTCTCT others(37): Show TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02647.hp1 others(3): Show HG01167.hp2 HG01169.hp1 HG02647.hp1 HG02922.hp1 HG03225.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0003 a0001c0007 a0003c0003	a0001c0007t0001 a0001c0007t0015 a0001c0007t0045 others(1): Show a0001c0007t0001 a0001c0007t0015 a0001c0007t0045 a0003c0003t0009	a0001c0007t0001g0323 a0001c0007t0001g0324 a0001c0007t0015g0074 others(3): Show a0001c0007t0001g0323 a0001c0007t0001g0324 a0001c0007t0015g0074 a0001c0007t0045g0170 a0003c0003t0009g0039 a0003c0003t0009g0300	6	332	0.0181	44	c.261 others(63): Show c.2611-1445_2611-1444insCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTCTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar

Search by Variant

Search

Search Results