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
SEMA3A_chr7_83950777_84199789	84091184	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02572.hp2 HG02647.hp1 others(7): Show HG02132.hp2 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG02922.hp1 NA18942.hp2 NA18993.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0005c0010	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0003t0006 a0001c0003t0015 a0001c0004t0036 a0001c0005t0001 a0005c0010t0015	a0001c0001t0001g0241 a0001c0001t0009g0013 a0001c0002t0002g0171 others(7): Show a0001c0001t0001g0241 a0001c0001t0009g0013 a0001c0002t0002g0171 a0001c0002t0002g0193 a0001c0002t0002g0233 a0001c0003t0006g0014 a0001c0003t0015g0221 a0001c0004t0036g0012 a0001c0005t0001g0011 a0005c0010t0015g0001	10	274	0.0365	-34	c.453 others(53): Show c.453+19252_453+19285delTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9384649	TAGATAGA others(27): Show TAGATAGATAGATATAGATAGATAGATATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0049 a0001c0004t0010g0049	1	128	0.0078	-34	c.-77 others(51): Show c.-77-4660_-77-4627delCTATCTATATCTATCTATCTATATCTAT CTATCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384653	TAGATAGA others(27): Show TAGATAGATATAGATAGATAGATATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0039 a0001c0004t0001g0039	1	130	0.0077	-34	c.-77 others(51): Show c.-77-4664_-77-4631delCTATCTATCTATATCTATCTATCTATAT CTATCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SENP1_chr12_48037897_48111079	48056918	AATATATT others(27): Show AATATATTATTTAATATATTACATATTACATATAT	A A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	392	0.0026	-34	c.140 others(53): Show c.1407+6758_1407+6791delATATATGTAATATGTAATATATTAAA TAATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP3_chr17_7556919_7576969	7571834	CTTTTATA others(27): Show CTTTTATATATATATATATATATATATATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0019 a0001c0001t0017g0019	1	421	0.0024	-34	c.35 others(43): Show c.352_*385delTTTTATATATATATATATATATATATATATATAT	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	352		chr17	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp2 others(11): Show HG00544.hp1 HG00558.hp2 HG00597.hp2 HG01993.hp2 HG02135.hp2 HG03017.hp2 HG03654.hp2 NA18946.hp1 NA18963.hp2 NA18983.hp1 NA18994.hp2 NA19057.hp2 NA19062.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0092 a0001c0003t0001g0035	14	329	0.0426	-34	c.39 others(43): Show c.393_*426delTATATATATATATATATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	393	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571876	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG03471.hp2 NA18978.hp2 others(2): Show HG02922.hp1 HG03471.hp2 NA18978.hp2 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0004 a0001c0001t0001g0037 a0001c0001t0006g0007 a0001c0001t0001g0004 a0001c0001t0001g0037 a0001c0001t0006g0007	5	428	0.0117	-34	c.39 others(43): Show c.395_*428delTATATATATATATATATATATATATATATATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	395	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571878	TATATATA others(27): Show TATATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp1 others(6): Show HG00544.hp2 HG00558.hp1 HG00673.hp1 HG01256.hp2 HG02004.hp2 HG03017.hp1 NA18967.hp2 NA18997.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0002g0001 a0001c0001t0002g0056 a0001c0001t0005g0006 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0056 a0001c0001t0005g0006 a0001c0001t0005g0013 a0001c0001t0011g0001	9	442	0.0204	-34	c.40 others(43): Show c.403_*436delTATATATATATATATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	403	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP7_chr3_101319205_101518212	101463360	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02451.hp2 HG02559.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0016 a0001c0003 a0008c0016	a0001c0003t0002 a0008c0016t0002 a0001c0003t0002 a0008c0016t0002	a0001c0003t0002g0017 a0008c0016t0002g0015 a0001c0003t0002g0017 a0008c0016t0002g0015	2	364	0.0055	-34	c.187 others(51): Show c.187-4342_187-4309delATATATATATATATATATATATATATAT ATTTAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463364	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(49): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG01081.hp1 HG01106.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02129.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03471.hp2 HG03654.hp2 HG04228.hp2 NA18944.hp2 NA18945.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18983.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19085.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0009 a0004c0006 a0001c0003 a0001c0009 a0004c0006	a0001c0003t0002 a0001c0009t0002 a0004c0006t0002 a0001c0003t0002 a0001c0009t0002 a0004c0006t0002	a0001c0003t0002g0023 a0001c0003t0002g0120 a0001c0003t0002g0121 others(49): Show a0001c0003t0002g0023 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0131 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0185 a0001c0003t0002g0284 a0001c0009t0002g0144 a0001c0009t0002g0145 a0001c0009t0002g0163 a0004c0006t0002g0130 a0004c0006t0002g0169 a0004c0006t0002g0170 a0004c0006t0002g0172 a0004c0006t0002g0173	52	302	0.1722	-34	c.187 others(51): Show c.187-4346_187-4313delGTATATATATATATATATATATATATAT ATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPTIN10_chr2_109537799_109618966	109590041	CATATATA others(27): Show CATATATATGTGTGTGTATATATATACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03490.hp1 HG03942.hp1 others(2): Show HG02015.hp2 HG03490.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0006 a0005c0004t0006 a0001c0001t0006 a0005c0004t0006	a0001c0001t0006g0134 a0001c0001t0006g0136 a0001c0001t0006g0137 others(2): Show a0001c0001t0006g0134 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0161 a0005c0004t0006g0160	5	388	0.0129	-34	c.99+ others(49): Show c.99+2976_99+3009delATGTGTGTGTATATATATACACACACATAT ATAT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	2/10			chr2	TogoVar
SEPTIN6_chrX_119611945_119698168	119662295	TGAAGGTC others(27): Show TGAAGGTCATCGCGTATCTCAGTATTCCTCAGACA	T T	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	250	0.0040	-34	c.341 others(51): Show c.341+1153_341+1186delTGTCTGAGGAATACTGAGATACGCGATG ACCTTC	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	3/10			chrX	TogoVar
SERGEF_chr11_17783048_18018047	17998432	CATACATA others(27): Show CATACATACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01168.hp1 others(13): Show HG00280.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp2 HG01928.hp2 HG02300.hp1 HG02738.hp1 HG02809.hp1 HG03688.hp1 NA18943.hp2 NA18972.hp1 NA19000.hp2 NA19065.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(13): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0002g0216 a0002c0003t0001g0123	16	211	0.0758	-34	c.508 others(51): Show c.508+2031_508+2064delATATATATATATATATATATATATATGT ATGTAT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	5/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	17998436	CATACATA others(27): Show CATACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0136 a0007c0008t0002g0136	1	125	0.0080	-34	c.508 others(51): Show c.508+2027_508+2060delATATATATATATATATATATATATATAT ATGTAT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	5/10			chr11	TogoVar
SERPINB7_chr18_63770418_63810370	63783206	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	430	0.0023	-34	c.168 others(49): Show c.168+670_168+703delGAGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783210	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0186 a0001c0001t0003g0004 a0001c0001t0003g0186	2	400	0.0050	-34	c.168 others(49): Show c.168+674_168+707delGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA AAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101140244	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(82): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 NA18522.hp2 NA18940.hp1 NA18947.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0031 a0002c0003t0001 a0002c0003t0007	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 others(71): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0293 a0001c0001t0006g0057 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0008g0028 a0001c0001t0008g0100 a0001c0001t0008g0140 a0001c0001t0010g0038 a0001c0001t0010g0143 a0001c0001t0010g0149 a0001c0001t0011g0054 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0016g0148 a0001c0001t0019g0197 a0001c0001t0031g0007 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0007g0299	85	335	0.2537	-34	c.28 others(45): Show c.2803_*2836delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		998		chr7	TogoVar
SEZ6L_chr22_26164462_26388596	26294899	TGCTTGCT others(27): Show TGCTTGCTTCCTGCTTTCTTGCTTCTTTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG01243.hp1 HG03209.hp2	a0002 a0011 a0002 a0011	a0002c0005 a0011c0032 a0002c0005 a0011c0032	a0002c0005t0004 a0011c0032t0001 a0002c0005t0004 a0011c0032t0001	a0002c0005t0004g0180 a0011c0032t0001g0177 a0002c0005t0004g0180 a0011c0032t0001g0177	2	238	0.0084	-34	c.969 others(49): Show c.969+475_969+508delGCTTGCTTCCTGCTTTCTTGCTTCTTTCTC TTTC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	3/16			chr22	TogoVar
SFMBT2_chr10_7153624_7416034	7213694	TGTGGGCA others(27): Show TGTGGGCACTCAGATCCGTGTGCGAGGCCATGGGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02258.hp1 others(8): Show HG01243.hp2 HG02257.hp1 HG02258.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0003c0004t0007	a0001c0001t0001g0012 a0001c0001t0002g0122 a0001c0001t0003g0030 others(8): Show a0001c0001t0001g0012 a0001c0001t0002g0122 a0001c0001t0003g0030 a0001c0001t0003g0100 a0001c0001t0004g0056 a0001c0001t0005g0027 a0001c0001t0009g0089 a0001c0001t0019g0062 a0001c0001t0029g0107 a0001c0001t0030g0041 a0003c0004t0007g0040	11	142	0.0775	-34	c.133 others(53): Show c.1330+6683_1330+6716delGCCCATGGCCTCGCACACGGATCTGA GTGCCCAC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	11/20			chr10	TogoVar
SFSWAP_chr12_131706090_131804738	131792611	ACATGTGT others(27): Show ACATGTGTGTTCACAGATCAGTACTGGTGCACATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp1 HG01243.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	316	0.0063	-34	c.253 others(53): Show c.2535-4550_2535-4517delTCAGTACTGGTGCACATGCATGTGTG TTCACAGA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN1_chr5_175473560_175534742	175524111	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0151 a0001c0002t0041g0151	1	370	0.0027	-34	c.872 others(51): Show c.872+1691_872+1724delAAAAAAAAAAAAAATATATATATATATA TATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524117	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0174 a0001c0002t0030g0174	1	367	0.0027	-34	c.872 others(51): Show c.872+1697_872+1730delAAAAAAAATATATATATATATATATATA TATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156444112	CTCTCCCC others(27): Show CTCTCCCCTTCCCTCTCTCTCTCTCTCCTTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0046 a0001c0001t0021g0046	1	148	0.0068	-34	c.193 others(53): Show c.193-64484_193-64451delCCCTTCCCTCTCTCTCTCTCTCCTTC CCTTTCTC	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156524094	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0074 a0001c0002t0060g0074	1	8	0.1250	-34	c.294 others(53): Show c.294+15412_294+15445delATATATATATATATATATATATATAT ATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCE_chr7_94579980_94661133	94604806	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18975.hp1 NA19002.hp2 HG00438.hp1 NA18975.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0040 a0001c0001t0001g0247 a0001c0001t0001g0250	3	54	0.0556	-34	c.663 others(51): Show c.663-1388_663-1355delATATATATATATATATATATATATATAT ATATAT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding	5/10			chr7	TogoVar
SGCZ_chr8_14079845_15243431	14440667	GTATGTAT others(27): Show GTATGTATATACATACGTATACACGTATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp2 HG01258.hp1 others(36): Show HG00438.hp2 HG01243.hp2 HG01258.hp1 HG01346.hp2 HG01975.hp1 HG02004.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA19000.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0001t0033 a0001c0001t0036 a0001c0001t0039 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0084 a0002c0002t0004 a0002c0002t0009	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 others(36): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0002g0086 a0001c0001t0005g0090 a0001c0001t0006g0083 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0010g0002 a0001c0001t0016g0022 a0001c0001t0017g0011 a0001c0001t0018g0037 a0001c0001t0020g0025 a0001c0001t0023g0029 a0001c0001t0028g0006 a0001c0001t0033g0003 a0001c0001t0036g0012 a0001c0001t0039g0036 a0001c0001t0053g0055 a0001c0001t0054g0058 a0001c0001t0057g0087 a0001c0001t0058g0097 a0001c0001t0064g0069 a0001c0001t0065g0047 a0001c0001t0066g0099 a0001c0001t0067g0068 a0001c0001t0069g0096 a0001c0001t0072g0066 a0001c0001t0073g0053 a0001c0001t0074g0098 a0001c0001t0075g0044 a0001c0001t0078g0093 a0001c0001t0080g0089 a0001c0001t0081g0085 a0001c0001t0084g0101 a0002c0002t0004g0027 a0002c0002t0004g0038 a0002c0002t0009g0001	39	75	0.5200	-34	c.234 others(55): Show c.234+114031_234+114064delTATACATATACGTGTATACGTATG TATATACATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGK1_chr6_134164256_134323112	134206357	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18940.hp2 HG01433.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0216 a0001c0001t0001g0049 a0001c0001t0001g0216	2	231	0.0087	-34	c.361 others(49): Show c.361+965_361+998delAAAAAAAATATATATATATATATATATATA TATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206359	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0147 a0001c0001t0001g0024 a0001c0001t0001g0147	2	185	0.0108	-34	c.361 others(49): Show c.361+963_361+996delAAAAAAAAAATATATATATATATATATATA TATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66839498	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	53	0.0189	-34	c.742 others(49): Show c.742-478_742-445delATATATATATATATATATATATATATATAT ATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50400396	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0030 a0001c0002t0010g0110 a0001c0002t0010g0030 a0001c0002t0010g0110	2	12	0.1667	-34	c.-23 others(55): Show c.-232+33046_-232+33079delATATATATATATATATATATATAT ATATATATAT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572962	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0009 a0002c0007t0001g0009	1	303	0.0033	-34	c.495 others(51): Show c.495+1386_495+1419delATATATATATATATATATATATATTTTT TTTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BP5_chr3_15249353_15337586	15272598	CATTACAA others(27): Show CATTACAAAACAGAGTGCCCGTAGGATAAAGACAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01943.hp2 HG02523.hp1 others(1): Show HG01123.hp2 HG01943.hp2 HG02523.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0283 a0001c0001t0001g0306 a0001c0001t0003g0115 others(1): Show a0001c0001t0001g0283 a0001c0001t0001g0306 a0001c0001t0003g0115 a0001c0002t0002g0065	4	374	0.0107	-34	c.331 others(51): Show c.331-2755_331-2722delATGTCTTTATCCTACGGGCACTCTGTTT TGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3KBP1_chrX_19528977_19892600	19634031	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	25	0.0400	-34	c.803 others(51): Show c.803-2107_803-2074delACACACACACACACACACACACACACAC ACACAC	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	7/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103810918	ACGGAGAC others(27): Show ACGGAGACACACACATGGACACAGGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01106.hp1 others(12): Show HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01884.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA20805.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0004 a0001c0008 others(3): Show a0001c0001 a0001c0004 a0001c0008 a0001c0010 a0004c0011 a0006c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0024 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0024 a0001c0001t0044 a0001c0001t0045 a0001c0001t0103 a0001c0001t0113 a0001c0004t0020 a0001c0008t0051 a0001c0010t0129 a0004c0011t0108 a0004c0011t0111 a0006c0013t0014	a0001c0001t0003g0105 a0001c0001t0005g0185 a0001c0001t0024g0230 others(12): Show a0001c0001t0003g0105 a0001c0001t0005g0185 a0001c0001t0024g0230 a0001c0001t0044g0244 a0001c0001t0045g0094 a0001c0001t0045g0098 a0001c0001t0103g0117 a0001c0001t0113g0233 a0001c0004t0020g0104 a0001c0004t0020g0118 a0001c0008t0051g0248 a0001c0010t0129g0249 a0004c0011t0108g0225 a0004c0011t0111g0226 a0006c0013t0014g0115	15	232	0.0647	-34	c.73- others(49): Show c.73-9590_73-9557delCGCGCGCGCGCCTGTGTCCATGTGTGTGTC TCCG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3RF2_chr5_145931578_146068292	146064672	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	267	0.0037	-34	c.19 others(45): Show c.1972_*2005delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1381		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109199476	AATGGAAT others(27): Show AATGGAATGGAATGGAATGGATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0160 a0002c0002t0004g0160	1	172	0.0058	-34	c.573 others(53): Show c.573+69384_573+69417delTGGAATGGAATGGGATGGAATGGAAT GGAATGGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHB_chr9_37910898_38074227	37917915	AAGGGCAG others(27): Show AAGGGCAGGGCTTTGCACAAACCGCTGAAGTCCAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0033 a0011c0027t0033	a0011c0027t0033g0195 a0011c0027t0033g0195	1	328	0.0030	-34	c.18 others(45): Show c.1872_*1905delGTGGACTTCAGCGGTTTGTGCAAAGCCCTGCCCT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	6/6	1872		chr9	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG00673.hp2 others(38): Show HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01192.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01952.hp2 HG01978.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02809.hp1 HG03017.hp1 HG03688.hp1 HG03710.hp2 NA18940.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA19058.hp2 NA19065.hp2 NA19085.hp1 NA19085.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 others(38): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0260 a0001c0001t0001g0274 a0001c0003t0001g0111 a0001c0003t0001g0125 a0002c0002t0001g0001 a0005c0005t0001g0046 a0005c0005t0001g0048 a0005c0005t0001g0050 a0005c0005t0001g0051	41	49	0.8367	-34	c.118 others(53): Show c.1182+2563_1182+2596delTATATATATATATATATATATATATA TATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930547	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0301 a0006c0007t0001g0301	1	198	0.0051	-34	c.107 others(51): Show c.1077-829_1077-796delTATATATATATATATATATATATATATA TACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	12943308	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02818.hp1 HG03654.hp1 HG01074.hp1 HG02818.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0088 a0001c0002t0006 a0001c0001t0001 a0001c0001t0088 a0001c0002t0006	a0001c0001t0001g0090 a0001c0001t0088g0018 a0001c0002t0006g0117 a0001c0001t0001g0090 a0001c0001t0088g0018 a0001c0002t0006g0117	3	207	0.0145	-34	c.691 others(53): Show c.691+26495_691+26528delTGTGTGTGTGTGTGTGTGTGTGAGAG AGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943310	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG04204.hp2 NA18967.hp2 others(2): Show HG02300.hp1 HG04204.hp2 NA18967.hp2 NA18970.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0030 a0001c0001t0068 others(2): Show a0001c0001t0002 a0001c0001t0030 a0001c0001t0068 a0001c0001t0074 a0004c0006t0019	a0001c0001t0002g0163 a0001c0001t0030g0026 a0001c0001t0068g0044 others(2): Show a0001c0001t0002g0163 a0001c0001t0030g0026 a0001c0001t0068g0044 a0001c0001t0074g0068 a0004c0006t0019g0023	5	144	0.0347	-34	c.691 others(53): Show c.691+26497_691+26530delTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943312	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04228.hp1 NA18983.hp2 others(2): Show HG02258.hp2 HG04228.hp1 NA18983.hp2 NA19000.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0057	a0001c0001t0001g0201 a0001c0001t0008g0111 a0001c0001t0010g0134 others(2): Show a0001c0001t0001g0201 a0001c0001t0008g0111 a0001c0001t0010g0134 a0001c0001t0011g0123 a0001c0001t0057g0094	5	191	0.0262	-34	c.691 others(53): Show c.691+26499_691+26532delTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943314	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0033 a0001c0001t0044g0033	1	201	0.0050	-34	c.691 others(53): Show c.691+26501_691+26534delTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943316	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG01261.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0013 a0001c0001t0029 a0001c0002t0013	a0001c0001t0029g0003 a0001c0002t0013g0124 a0001c0001t0029g0003 a0001c0002t0013g0124	2	205	0.0098	-34	c.691 others(53): Show c.691+26503_691+26536delTGTGTGTGTGTGTGAGAGAGAGAGAG AGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943318	TGTGTGTG others(27): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01255.hp2 NA21309.hp1 HG01167.hp1 HG01255.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0049 a0001c0001t0079 a0001c0001t0025 a0001c0001t0049 a0001c0001t0079	a0001c0001t0025g0010 a0001c0001t0049g0074 a0001c0001t0079g0164 a0001c0001t0025g0010 a0001c0001t0049g0074 a0001c0001t0079g0164	3	208	0.0144	-34	c.691 others(53): Show c.691+26505_691+26538delTGTGTGTGTGTGAGAGAGAGAGAGAG AGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943322	TGTGTGTG others(27): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0118 a0001c0001t0055g0118	1	213	0.0047	-34	c.691 others(53): Show c.691+26509_691+26542delTGTGTGTGAGAGAGAGAGAGAGAGAG AGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13121832	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0156 a0001c0001t0037g0156	1	34	0.0294	-34	c.692 others(53): Show c.692-81544_692-81511delCACACACACACACACACACACACACA CACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181284	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	1	134	0.0075	-34	c.692 others(53): Show c.692-22108_692-22075delTATATATATATATATATATATATATA TACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13198339	TATATGCA others(27): Show TATATGCATACATATATACTTGTATGTGTATGTAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0214 a0001c0001t0009g0214	1	213	0.0047	-34	c.692 others(51): Show c.692-5007_692-4974delTATACTTGTATGTGTATGTACATATGCA TACATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHOX_chrX_625791_656584	654894	GCCAGGCT others(27): Show GCCAGGCTGGTTTTGAGCTCCCGACCTCGGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01169.hp1 others(28): Show HG00741.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03486.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0009 a0001c0001t0022 others(27): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0022 a0001c0001t0025 a0001c0001t0030 a0001c0001t0033 a0001c0001t0043 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0073 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0091 a0001c0001t0095 a0001c0001t0124 a0001c0001t0129 a0001c0001t0143 a0001c0001t0144 a0001c0001t0155 a0001c0001t0156 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0173 a0001c0001t0175 a0001c0002t0170	a0001c0001t0004g0002 a0001c0001t0009g0144 a0001c0001t0022g0131 others(28): Show a0001c0001t0004g0002 a0001c0001t0009g0144 a0001c0001t0022g0131 a0001c0001t0025g0117 a0001c0001t0025g0158 a0001c0001t0030g0043 a0001c0001t0033g0159 a0001c0001t0043g0119 a0001c0001t0055g0146 a0001c0001t0057g0006 a0001c0001t0059g0087 a0001c0001t0073g0101 a0001c0001t0077g0178 a0001c0001t0078g0170 a0001c0001t0079g0103 a0001c0001t0091g0129 a0001c0001t0095g0133 a0001c0001t0124g0045 a0001c0001t0129g0082 a0001c0001t0143g0086 a0001c0001t0144g0148 a0001c0001t0155g0008 a0001c0001t0156g0127 a0001c0001t0161g0199 a0001c0001t0162g0121 a0001c0001t0163g0083 a0001c0001t0164g0080 a0001c0001t0165g0125 a0001c0001t0173g0074 a0001c0001t0175g0157 a0001c0002t0170g0014	31	218	0.1422	-34	c.10 others(47): Show c.10259_*10292delCCAGGCTGGTTTTGAGCTCCCGACCTCGGGTG AT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		3311		chrX	TogoVar

Search by Variant

Search

Search Results