Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCML4_chr6_107697154_107829313	107778211	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0068	1	250	0.0040	-23	c.-59 others(40): Show c.-59-5848_-59-5826delATATATATATATTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18948.hp1 NA18948.hp2 HG00733.hp2 NA18948.hp1 NA18948.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0007 a0004c0005 a0001c0004 a0001c0007 a0004c0005	a0001c0004t0001 a0001c0007t0001 a0004c0005t0001 a0001c0004t0001 a0001c0007t0001 a0004c0005t0001	a0001c0004t0001g0354 a0001c0007t0001g0129 a0004c0005t0001g0215 a0001c0004t0001g0354 a0001c0007t0001g0129 a0004c0005t0001g0215	3	372	0.0081	-23	c.350 others(40): Show c.3508-564_3508-542delAAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38814696	TATGCTCA others(16): Show TATGCTCATTTATTATTACTATTA	T T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0001 a0025c0041t0001	a0025c0041t0001g0147 a0025c0041t0001g0147	1	372	0.0027	-23	c.-33 others(40): Show c.-33+1318_-33+1340delTAATAGTAATAATAAATGAGCAT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	1/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963370	TATATATA others(16): Show TATATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18989.hp2 NA19010.hp1 NA18967.hp2 NA18989.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0053 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0053	3	314	0.0096	-23	c.-27 others(42): Show c.-279-2970_-279-2948delCTCCATCATATATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165320301	CAGGGTAC others(16): Show CAGGGTACAGCTTCCCTCCTGACT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02723.hp2 HG02451.hp2 HG02630.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0013g0040 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0013g0040	3	358	0.0084	-23	c.167 others(42): Show c.1672-2853_1672-2831delGGGTACAGCTTCCCTCCTGACTA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165395270	ATTATATA others(16): Show ATTATATACTTATATAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG02683.hp2 HG01243.hp2 HG01515.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0229	3	358	0.0084	-23	c.54 others(34): Show c.5447_*5469delTTATATACTTATATAATATATAT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding		2967		chr2	TogoVar
SCN5A_chr3_38543062_38654687	38543869	ACACAGGA others(16): Show ACACAGGAGCCAGCATCCGTCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0173 a0001c0001t0019g0173	1	340	0.0029	-23	c.64 others(34): Show c.6429_*6451delAGTGACGGATGCTGGCTCCTGTG	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding		4192		chr3	TogoVar
SCN8A_chr12_51586233_51817864	51721099	ATATATAT others(16): Show ATATATATAATATTTATTTATTGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01071.hp2 others(52): Show HG00621.hp2 HG00735.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03710.hp2 HG03834.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18999.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19084.hp2 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0007 a0001c0003t0012 a0001c0004t0008 a0001c0006t0001 a0001c0016t0005	a0001c0001t0002g0099 a0001c0001t0003g0021 a0001c0001t0003g0029 others(52): Show a0001c0001t0002g0099 a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0154 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0006g0130 a0001c0001t0020g0044 a0001c0001t0021g0144 a0001c0001t0029g0137 a0001c0001t0030g0142 a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0002t0001g0132 a0001c0002t0001g0138 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0007g0018 a0001c0002t0007g0028 a0001c0002t0007g0146 a0001c0002t0007g0184 a0001c0003t0012g0077 a0001c0003t0012g0105 a0001c0004t0008g0092 a0001c0004t0008g0093 a0001c0004t0008g0094 a0001c0004t0008g0096 a0001c0004t0008g0097 a0001c0004t0008g0098 a0001c0006t0001g0079 a0001c0006t0001g0190 a0001c0016t0005g0128	55	202	0.2723	-23	c.163 others(40): Show c.1636-438_1636-416delATATTTATTTATTGTTATATATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166201259	CTATACAT others(16): Show CTATACATATACATATACTATACA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03225.hp2 NA19240.hp1 HG01496.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 a0001c0003 a0001c0005 a0001c0007	a0001c0003t0012 a0001c0005t0012 a0001c0007t0012 a0001c0003t0012 a0001c0005t0012 a0001c0007t0012	a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018 a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018	3	296	0.0101	-23	c.477 others(42): Show c.4775-1418_4775-1396delTGTATAGTATATGTATATGTATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCNN1A_chr12_6341847_6380563	6369258	GCTGCCAC others(16): Show GCTGCCACCCTACACGCCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	454	0.0022	-23	c.416 others(40): Show c.416+5087_416+5109delGAGGGAGGCGTGTAGGGTGGCAG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6369273	GCCTCCCT others(16): Show GCCTCCCTCCTGCCACCCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 NA18942.hp1 others(6): Show HG00423.hp1 HG00438.hp2 NA18942.hp1 NA18968.hp1 NA18983.hp1 NA18983.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 a0001c0001t0001 a0002c0002t0001 a0002c0011t0001	a0001c0001t0001g0222 a0001c0001t0001g0319 a0001c0001t0001g0320 others(4): Show a0001c0001t0001g0222 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0368 a0002c0002t0001g0006 a0002c0002t0001g0285 a0002c0011t0001g0128	9	454	0.0198	-23	c.416 others(40): Show c.416+5072_416+5094delTGAGTAGGGTGGCAGGAGGGAGG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6369294	TCACCTCC others(16): Show TCACCTCCCTCCTGCCACCCTACG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01074.hp2 others(9): Show HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG03139.hp2 NA18943.hp2 NA18944.hp2 NA18971.hp2 NA18982.hp1 NA19063.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0017	a0001c0001 a0001c0029 a0002c0002 others(4): Show a0001c0001 a0001c0029 a0002c0002 a0003c0003 a0005c0007 a0008c0015 a0017c0027	a0001c0001t0001 a0001c0001t0002 a0001c0029t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0029t0001 a0002c0002t0001 a0003c0003t0001 a0005c0007t0001 a0008c0015t0017 a0017c0027t0001	a0001c0001t0001g0293 a0001c0001t0001g0375 a0001c0001t0002g0048 others(9): Show a0001c0001t0001g0293 a0001c0001t0001g0375 a0001c0001t0002g0048 a0001c0029t0001g0106 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0398 a0003c0003t0001g0418 a0005c0007t0001g0199 a0005c0007t0001g0200 a0008c0015t0017g0374 a0017c0027t0001g0107	12	454	0.0264	-23	c.416 others(40): Show c.416+5051_416+5073delCGTAGGGTGGCAGGAGGGAGGTG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6369342	ACCTCCCT others(16): Show ACCTCCCTCCTGCCACCCTACGCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01081.hp2 others(63): Show HG00544.hp2 HG00735.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG02895.hp1 HG03017.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19055.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0011 a0002c0028 a0003c0003 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0019 a0002c0002t0001 a0002c0002t0018 a0002c0011t0001 a0002c0028t0003 a0003c0003t0001 a0003c0003t0002 a0004c0014t0003	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(54): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0150 a0001c0001t0001g0185 a0001c0001t0001g0284 a0001c0001t0001g0302 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0365 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0396 a0001c0001t0001g0408 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0006t0001g0118 a0001c0006t0001g0122 a0001c0006t0019g0123 a0002c0002t0001g0004 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0205 a0002c0002t0001g0317 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0387 a0002c0002t0001g0395 a0002c0002t0018g0379 a0002c0011t0001g0119 a0002c0011t0001g0120 a0002c0011t0001g0121 a0002c0028t0003g0124 a0003c0003t0001g0005 a0003c0003t0001g0016 a0003c0003t0001g0186 a0003c0003t0001g0203 a0003c0003t0001g0283 a0003c0003t0001g0301 a0003c0003t0001g0349 a0003c0003t0002g0081 a0004c0014t0003g0105 a0004c0014t0003g0125 a0004c0014t0003g0127	66	454	0.1454	-23	c.416 others(40): Show c.416+5003_416+5025delCGCGTAGGGTGGCAGGAGGGAGG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23305524	AATATATA others(16): Show AATATATATATTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	306	0.0033	-23	c.-9+ others(38): Show c.-9+3098_-9+3120delTATATATATATATATATATATAT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCT_chr11_621309_632181	628956	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-23	c.-18 others(34): Show c.-1836_-1814delGAAAGAAAGAAAGAAAGAAAGAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1776		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43280468	TCCCGTCC others(16): Show TCCCGTCCCTTCCCCTCACCCATC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01496.hp1 HG02615.hp2 others(4): Show HG00597.hp2 HG01496.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp2 NA18943.hp2 NA19003.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0002 a0002c0059 a0003c0001 others(2): Show a0002c0002 a0002c0059 a0003c0001 a0005c0016 a0007c0041	a0002c0002t0002 a0002c0059t0001 a0003c0001t0001 others(3): Show a0002c0002t0002 a0002c0059t0001 a0003c0001t0001 a0005c0016t0002 a0005c0016t0079 a0007c0041t0081	a0002c0002t0002g0265 a0002c0059t0001g0119 a0003c0001t0001g0202 others(4): Show a0002c0002t0002g0265 a0002c0059t0001g0119 a0003c0001t0001g0202 a0003c0001t0001g0211 a0005c0016t0002g0025 a0005c0016t0079g0132 a0007c0041t0081g0236	7	280	0.0250	-23	c.484 others(42): Show c.484+10555_484+10577delGATGGGTGAGGGGAAGGGACGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281016	CTTCTGTC others(16): Show CTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0086 a0001c0006t0086	a0001c0006t0086g0272 a0001c0006t0086g0272	1	280	0.0036	-23	c.484 others(42): Show c.484+10007_484+10029delTAGCTGAGGAGGAGATGACAGAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281134	CTTCTGTC others(16): Show CTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0193 a0003c0007t0001g0193	1	280	0.0036	-23	c.484 others(40): Show c.484+9889_484+9911delTAGCTGAGGAGGAGATGACAGAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281253	TTCTGTCA others(16): Show TTCTGTCATCTCCTCCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0086 a0001c0006t0086	a0001c0006t0086g0272 a0001c0006t0086g0272	1	280	0.0036	-23	c.484 others(40): Show c.484+9770_484+9792delGTAGCTGAGGAGGAGATGACAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281327	TCCTGTCA others(16): Show TCCTGTCACCTCCTCCTCAGTCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18944.hp1 HG02886.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0013 a0002c0009t0025 a0002c0002t0013 a0002c0009t0025	a0002c0002t0013g0062 a0002c0009t0025g0259 a0002c0002t0013g0062 a0002c0009t0025g0259	2	280	0.0071	-23	c.484 others(40): Show c.484+9696_484+9718delGTGACTGAGGAGGAGGTGACAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281365	TGGCCACC others(16): Show TGGCCACCCTTCTGTCATCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0096 a0001c0012t0096	a0001c0012t0096g0277 a0001c0012t0096g0277	1	280	0.0036	-23	c.484 others(40): Show c.484+9658_484+9680delGAGGAGATGACAGAAGGGTGGCC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281536	TCAGTCAC others(16): Show TCAGTCACCCTCCTGTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03239.hp1 others(1): Show HG02055.hp2 HG02258.hp2 HG03239.hp1 NA19005.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0015 a0002c0002 a0006c0015	a0002c0002t0010 a0002c0002t0018 a0006c0015t0007 a0002c0002t0010 a0002c0002t0018 a0006c0015t0007	a0002c0002t0010g0114 a0002c0002t0018g0011 a0002c0002t0018g0012 others(1): Show a0002c0002t0010g0114 a0002c0002t0018g0011 a0002c0002t0018g0012 a0006c0015t0007g0066	4	280	0.0143	-23	c.484 others(40): Show c.484+9487_484+9509delGGGAGGTGACAGGAGGGTGACTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9096536	TGCCCCAT others(16): Show TGCCCCATCTCTAACTTCAGGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0010 a0010c0012t0010	a0010c0012t0010g0144 a0010c0012t0010g0144	1	358	0.0028	-23	c.-50 others(34): Show c.-5031_-5009delGAGCCTGAAGTTAGAGATGGGGC	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding		4938		chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35217230	GGGGGGGC others(16): Show GGGGGGGCGGGGGGGAGGCGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0177	1	290	0.0035	-23	c.85+ others(38): Show c.85+2734_85+2756delCGGGGGGGAGGCGCGGCGGGGGG	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SDK1_chr7_3296252_4274000	3718541	AAATAAAT others(16): Show AAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 HG02145.hp2 HG03516.hp1	a0001 a0020 a0001 a0020	a0001c0092 a0020c0089 a0001c0092 a0020c0089	a0001c0092t0048 a0020c0089t0047 a0001c0092t0048 a0020c0089t0047	a0001c0092t0048g0057 a0020c0089t0047g0056 a0001c0092t0048g0057 a0020c0089t0047g0056	2	116	0.0172	-23	c.713 others(42): Show c.713+76439_713+76461delTAAATAAATAAATAAATAAATAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG03225.hp2 others(1): Show HG02145.hp2 HG02451.hp2 HG03225.hp2 HG03516.hp1	a0001 a0020 a0022 a0001 a0020 a0022	a0001c0025 a0001c0092 a0020c0089 others(1): Show a0001c0025 a0001c0092 a0020c0089 a0022c0050	a0001c0025t0024 a0001c0092t0048 a0020c0089t0047 others(1): Show a0001c0025t0024 a0001c0092t0048 a0020c0089t0047 a0022c0050t0019	a0001c0025t0024g0088 a0001c0092t0048g0057 a0020c0089t0047g0056 others(1): Show a0001c0025t0024g0088 a0001c0092t0048g0057 a0020c0089t0047g0056 a0022c0050t0019g0092	4	116	0.0345	-23	c.242 others(40): Show c.2420+335_2420+357delTTTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4084709	ATGTTATG others(16): Show ATGTTATGTTATGTTATGTTATGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 NA20129.hp1 HG02145.hp2 HG02809.hp2 NA20129.hp1	a0001 a0001	a0001c0011 a0001c0037 a0001c0092 a0001c0011 a0001c0037 a0001c0092	a0001c0011t0008 a0001c0037t0002 a0001c0092t0048 a0001c0011t0008 a0001c0037t0002 a0001c0092t0048	a0001c0011t0008g0028 a0001c0037t0002g0077 a0001c0092t0048g0057 a0001c0011t0008g0028 a0001c0037t0002g0077 a0001c0092t0048g0057	3	116	0.0259	-23	c.332 others(42): Show c.3324+5131_3324+5153delTGTTATGTTATGTTATGTTGTTA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73505649	ATCAATAG others(16): Show ATCAATAGCTGGACCTCATCATCG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0016 a0001c0025t0016	a0001c0025t0016g0055 a0001c0025t0016g0055	1	204	0.0049	-23	c.224 others(40): Show c.224+1766_224+1788delCGATGATGAGGTCCAGCTATTGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02074.hp1 NA19030.hp1 HG00741.hp2 HG02074.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0291 a0001c0001t0001g0303 a0001c0001t0002g0028 a0001c0001t0001g0291 a0001c0001t0001g0303 a0001c0001t0002g0028	3	320	0.0094	-23	c.52- others(38): Show c.52-8972_52-8950delTTTTTTTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC14L5_chr16_4953330_5024157	5014676	AGATGGGA others(16): Show AGATGGGAGTGTGGGGAATTCGGT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0165 a0001c0003t0003g0165	1	376	0.0027	-23	c.198 others(40): Show c.1980-182_1980-160delGATGGGAGTGTGGGGAATTCGGT	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	15/15			chr16	TogoVar
SEC23A_chr14_39026919_39108235	39094424	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	366	0.0027	-23	c.222 others(40): Show c.222-1203_222-1181delAAAAATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094426	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	366	0.0027	-23	c.222 others(40): Show c.222-1205_222-1183delAAAAAAATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC31A_chr4_82813509_82896153	82837176	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	328	0.0031	-23	c.296 others(42): Show c.2968+4941_2968+4963delTATATATATATATATATATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SELENON_chr1_25795193_25823221	25805622	CCCCACAT others(16): Show CCCCACATACTATGATGATTATTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0120 a0001c0009t0010g0121 a0001c0009t0010g0120 a0001c0009t0010g0121	2	392	0.0051	-23	c.537 others(38): Show c.537+354_537+376delTACTATGATGATTATTTCCCACA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENON_chr1_25795193_25823221	25805629	TACTATGA others(16): Show TACTATGATGATTATTTCCCACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp1 HG02145.hp1 others(7): Show HG01099.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0008 a0001c0002t0027 a0001c0008t0007 a0001c0002t0008 a0001c0002t0027 a0001c0008t0007	a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0008g0178 others(6): Show a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0008g0178 a0001c0002t0027g0136 a0001c0008t0007g0041 a0001c0008t0007g0154 a0001c0008t0007g0155 a0001c0008t0007g0156 a0001c0008t0007g0157	10	392	0.0255	-23	c.537 others(38): Show c.537+368_537+390delTTTCCCACACACTATGATGATTA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENOV_chr19_39510139_39525675	39510557	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(103): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG03041.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19059.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0140 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0012t0001g0003	106	436	0.2431	-23	c.-46 others(34): Show c.-4655_-4633delTTTTTTTTTTTTTTTTTTTTTTT	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding		4581		chr19	TogoVar
SEMA3A_chr7_83950777_84199789	83965644	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03041.hp2 HG00639.hp1 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0155 a0001c0003t0006g0156	2	276	0.0073	-23	c.171 others(42): Show c.1718-2320_1718-2298delATATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965646	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0219 a0001c0003t0006g0219	1	276	0.0036	-23	c.171 others(42): Show c.1718-2322_1718-2300delAAATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89438964	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG02615.hp1 others(1): Show HG01109.hp2 HG01168.hp2 HG02615.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0010 a0001c0003t0003 a0001c0007t0001 a0001c0001t0010 a0001c0003t0003 a0001c0007t0001	a0001c0001t0010g0165 a0001c0003t0003g0037 a0001c0007t0001g0168 others(1): Show a0001c0001t0010g0165 a0001c0003t0003g0037 a0001c0007t0001g0168 a0001c0007t0001g0169	4	370	0.0108	-23	c.-24 others(44): Show c.-244+16901_-244+16923delAAAAAAAAAAAAAAAAAAAAAAA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89485792	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp2 others(17): Show HG00099.hp2 HG00140.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01346.hp1 HG01516.hp1 HG01943.hp1 HG02300.hp2 HG03139.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03579.hp1 HG04228.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0031 a0001c0001t0032 a0001c0003t0001 a0001c0003t0015 a0002c0002t0001 a0003c0005t0015 a0004c0006t0006	a0001c0001t0001g0018 a0001c0001t0003g0010 a0001c0001t0003g0013 others(17): Show a0001c0001t0001g0018 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0006g0007 a0001c0001t0006g0009 a0001c0001t0006g0012 a0001c0001t0006g0014 a0001c0001t0006g0017 a0001c0001t0006g0019 a0001c0001t0031g0023 a0001c0001t0032g0020 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0021 a0001c0003t0015g0078 a0002c0002t0001g0025 a0002c0002t0001g0085 a0003c0005t0015g0015 a0003c0005t0015g0016 a0004c0006t0006g0022	20	370	0.0541	-23	c.-31 others(44): Show c.-310+12104_-310+12126delCTTTTTTTTTTTTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9131636	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01884.hp2 others(13): Show HG00140.hp2 HG00280.hp1 HG01884.hp2 HG02280.hp2 HG02818.hp1 HG02965.hp2 HG03225.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp1 NA18944.hp1 NA18964.hp2 NA18966.hp2 NA18989.hp1 NA18991.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0013	a0001c0001t0054 a0001c0004t0001 a0001c0004t0005 others(10): Show a0001c0001t0054 a0001c0004t0001 a0001c0004t0005 a0001c0004t0062 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0005t0042 a0001c0005t0048 a0001c0005t0052 a0001c0005t0065 a0001c0009t0002 a0001c0013t0036	a0001c0001t0054g0094 a0001c0004t0001g0020 a0001c0004t0001g0030 others(13): Show a0001c0001t0054g0094 a0001c0004t0001g0020 a0001c0004t0001g0030 a0001c0004t0001g0041 a0001c0004t0005g0044 a0001c0004t0005g0050 a0001c0004t0062g0114 a0001c0005t0001g0051 a0001c0005t0002g0115 a0001c0005t0007g0082 a0001c0005t0042g0070 a0001c0005t0048g0022 a0001c0005t0052g0097 a0001c0005t0065g0123 a0001c0009t0002g0113 a0001c0013t0036g0008	16	134	0.1194	-23	c.159 others(42): Show c.1599+4845_1599+4867delGTTTTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9207892	GATAGATA others(16): Show GATAGATACATAGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG02976.hp1 others(3): Show HG00741.hp2 HG02280.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0013 others(1): Show a0001c0001 a0001c0005 a0001c0013 a0001c0022	a0001c0001t0001 a0001c0001t0064 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0064 a0001c0005t0001 a0001c0013t0036 a0001c0022t0055	a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0064g0127 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0064g0127 a0001c0005t0001g0005 a0001c0013t0036g0008 a0001c0022t0055g0081	6	134	0.0448	-23	c.647 others(40): Show c.647-5675_647-5653delTATCTATCTATCTATGTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22			chr5	TogoVar
SENP6_chr6_75596880_75723281	75638614	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	362	0.0028	-23	c.459 others(40): Show c.459-2068_459-2046delATATATATTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP7_chr3_101319205_101518212	101387946	ACTGTCTG others(16): Show ACTGTCTGGGAGCCTAGGCATAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(59): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01515.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03927.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 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0009t0002 a0001c0003t0002 a0001c0009t0002	a0001c0003t0002g0025 a0001c0003t0002g0120 a0001c0003t0002g0121 others(59): Show a0001c0003t0002g0025 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0284 a0001c0009t0002g0144 a0001c0009t0002g0151 a0001c0009t0002g0163	62	370	0.1676	-23	c.677 others(42): Show c.677+10892_677+10914delCCTATGCCTAGGCTCCCAGACAG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	6/23			chr3	TogoVar
SEPTIN10_chr2_109537799_109618966	109556519	GAACAGAT others(16): Show GAACAGATCCTAAACACTTGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18949.hp2 HG00621.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0268 a0001c0001t0001g0269	2	404	0.0050	-23	c.102 others(42): Show c.1029-3323_1029-3301delTCTGCAAGTGTTTAGGATCTGTT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	8/10			chr2	TogoVar
SEPTIN11_chr4_76944752_77043615	77024414	GGACCCAG others(16): Show GGACCCAGGCGTCTCCTTCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0100 a0001c0001t0014g0100	1	370	0.0027	-23	c.953 others(40): Show c.953+3750_953+3772delAGGCGTCTCCTTCCTCCAGACCC	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN14_chr7_55788540_55867752	55832541	GTATATAT others(16): Show GTATATATACACCATGGAATACTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(60): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01515.hp2 HG01928.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02258.hp1 HG02622.hp1 HG02717.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG03540.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0003c0003 a0005c0004 others(1): Show a0001c0001 a0003c0003 a0005c0004 a0008c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0022 a0001c0001t0029 a0003c0003t0019 a0005c0004t0003 a0008c0010t0003	a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0033 others(60): Show a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0156 a0001c0001t0003g0249 a0001c0001t0007g0056 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0046 a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0001t0008g0183 a0001c0001t0013g0018 a0001c0001t0013g0024 a0001c0001t0013g0028 a0001c0001t0013g0050 a0001c0001t0022g0031 a0001c0001t0022g0041 a0001c0001t0029g0026 a0003c0003t0019g0002 a0003c0003t0019g0003 a0003c0003t0019g0004 a0005c0004t0003g0049 a0005c0004t0003g0070 a0008c0010t0003g0067	63	390	0.1615	-23	c.720 others(40): Show c.720+1861_720+1883delTAGTATTCCATGGTGTATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838340	CCCTCCCT others(16): Show CCCTCCCTCCCTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	346	0.0029	-23	c.169 others(40): Show c.169+5466_169+5488delTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77454023	GTTTAGGG others(16): Show GTTTAGGGCTTCCGCCCTCTCTCC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 homoSapiens_chm13v2.hp1 HG02738.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0099 a0001c0001t0038g0118 a0001c0001t0001g0099 a0001c0001t0038g0118	2	150	0.0133	-23	c.722 others(42): Show c.722-28120_722-28098delTTTAGGGCTTCCGCCCTCTCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77454023	GTTTAGGG others(16): Show GTTTAGGGCTTCCGCCCTCTCTCC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 homoSapiens_chm13v2.hp1 HG02738.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0048 a0001c0001t0001 a0001c0001t0048	a0001c0001t0001g0004 a0001c0001t0048g0131 a0001c0001t0001g0004 a0001c0001t0048g0131	2	158	0.0127	-23	c.668 others(42): Show c.668-28120_668-28098delTTTAGGGCTTCCGCCCTCTCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10			chr17	TogoVar

Search by Variant

Search

Search Results (Total: 4709 hits)