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 (≤).

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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
SCARF1_chr17_1628858_1650732	1643338	GCCCCCTG others(12): Show GCCCCCTGTCTCCGCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0067 a0005c0005t0002g0067	1	401	0.0025	-19	c.791 others(33): Show c.791+85_791+103delGCGGGGCGGAGACAGGGGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCCPDH_chr1_246719409_246773137	246770183	GGTTTTCT others(12): Show GGTTTTCTGTTCTTGCATTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	410	0.0024	-19	c.28 others(30): Show c.2884_*2902delGTTTTCTGTTCTTGCATTA	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		2047		chr1	TogoVar
SCEL_chr13_77530706_77650263	77637289	CATATATA others(12): Show CATATATATAAATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0248 a0011c0017t0001g0248	1	356	0.0028	-19	c.183 others(35): Show c.1838+96_1838+114delATATATATAAATATATATA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	30/32			chr13	TogoVar
SCFD2_chr4_52867982_53371061	53028552	ACTTATTC others(12): Show ACTTATTCAATAGAGTGCTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0149 a0003c0008t0002g0149	1	162	0.0062	-19	c.156 others(42): Show c.1562-107701_1562-107683delAAGCACTCTATTGAATAAG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51709697	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	402	0.0025	-19	c.120 others(38): Show c.1208-3634_1208-3616delATATTTTTTTTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663060	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	415	0.0024	-19	c.227 others(38): Show c.227-16698_227-16680delTATATATATATAATATATA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCLT1_chr4_128878993_129098539	128987116	TCTGCAAT others(12): Show TCTGCAATGTTCTGAAATGG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	288	0.0035	-19	c.686 others(36): Show c.686+5032_686+5050delCCATTTCAGAACATTGCAG	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107778223	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02897.hp2 HG03540.hp2 HG01169.hp1 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0015 a0001c0001t0001 a0001c0003t0015	a0001c0001t0001g0159 a0001c0003t0015g0161 a0001c0003t0015g0162 a0001c0001t0001g0159 a0001c0003t0015g0161 a0001c0003t0015g0162	3	250	0.0120	-19	c.-59 others(36): Show c.-59-5856_-59-5838delATATATATATATATATATA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813368	AATTATAT others(12): Show AATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0241 a0002c0004t0005g0241	1	250	0.0040	-19	c.-60 others(38): Show c.-60+10739_-60+10757delATATATATATATATATAAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38713323	AGGAAAGA others(12): Show AGGAAAGACTCATTTGTCAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0142 a0005c0011t0001g0142	1	372	0.0027	-19	c.380 others(36): Show c.3804+616_3804+634delATGACAAATGAGTCTTTCC	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	22/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938536	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0003 a0007c0021t0003	a0007c0021t0003g0267 a0007c0021t0003g0267	1	314	0.0032	-19	c.488 others(36): Show c.488+6856_488+6874delAAAAATATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963374	TATATATA others(12): Show TATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19085.hp2 NA19002.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0048 a0001c0002t0004g0040 a0001c0002t0004g0048	2	314	0.0064	-19	c.-27 others(38): Show c.-279-2970_-279-2952delCTCCATCATATATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166000614	CCTTGTGA others(12): Show CCTTGTGAGGTGGTGGATTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03942.hp1 HG03704.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	356	0.0056	-19	c.428 others(36): Show c.4285-857_4285-839delAAATCCACCACCTCACAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	24/28			chr2	TogoVar
SCN2B_chr11_118157806_118181639	118178887	ATTATTAT others(12): Show ATTATTATTATTATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA19007.hp2 NA19086.hp1 NA18982.hp2 NA19007.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0187 a0001c0001t0005g0025 a0001c0001t0005g0187	3	450	0.0067	-19	c.-24 others(30): Show c.-2475_-2457delAAAAAAATAATAATAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2249		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178890	ATTATTAT others(12): Show ATTATTATTATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG03041.hp2 HG01243.hp1 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0008 a0001c0001t0022	a0001c0001t0008g0024 a0001c0001t0022g0051 a0001c0001t0008g0024 a0001c0001t0022g0051	3	450	0.0067	-19	c.-24 others(30): Show c.-2478_-2460delAAAAAAAAAATAATAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2252		chr11	TogoVar
SCN3A_chr2_165082526_165209050	165120745	ACAGTGAA others(12): Show ACAGTGAAGCCATTGGGTTG	A A	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0216 a0006c0018t0001g0216	1	314	0.0032	-19	c.339 others(38): Show c.3394-5189_3394-5171delCAACCCAATGGCTTCACTG	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	18/27			chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555084	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02965.hp1 HG02683.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0001 a0001c0019t0002 a0001c0002t0001 a0001c0019t0002	a0001c0002t0001g0161 a0001c0019t0002g0021 a0001c0002t0001g0161 a0001c0019t0002g0021	2	340	0.0059	-19	c.454 others(36): Show c.4542+553_4543-536delTATATATATATATATATAT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38644108	CCAGTCCC others(12): Show CCAGTCCCACCTGTTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0275 a0001c0014t0004g0275	1	340	0.0029	-19	c.-53 others(36): Show c.-53+5404_-53+5422delCCTGGAACAGGTGGGACTG	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	1/27			chr3	TogoVar
SCN8A_chr12_51586233_51817864	51721103	ATATAATA others(12): Show ATATAATATTTATTTATTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG01891.hp2 others(9): Show HG00140.hp1 HG00621.hp1 HG01891.hp2 HG02257.hp2 HG02559.hp2 HG02602.hp2 HG02886.hp1 HG02965.hp1 HG03654.hp1 NA18979.hp2 NA18983.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0001 a0001c0002t0007 a0001c0003t0009 others(1): Show a0001c0002t0001 a0001c0002t0007 a0001c0003t0009 a0001c0009t0001	a0001c0002t0001g0035 a0001c0002t0001g0068 a0001c0002t0001g0140 others(9): Show a0001c0002t0001g0035 a0001c0002t0001g0068 a0001c0002t0001g0140 a0001c0002t0001g0161 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0007g0013 a0001c0002t0007g0019 a0001c0002t0007g0143 a0001c0003t0009g0114 a0001c0009t0001g0147	12	202	0.0594	-19	c.163 others(36): Show c.1636-438_1636-420delATATTTATTTATTGTTATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp2 HG02572.hp1 others(7): Show HG01255.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02976.hp1 HG03540.hp1 HG03579.hp1	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0023	a0001c0011 a0001c0018 a0002c0020 others(5): Show a0001c0011 a0001c0018 a0002c0020 a0002c0036 a0002c0061 a0002c0067 a0018c0043 a0023c0046	a0001c0011t0018 a0001c0018t0034 a0002c0020t0007 others(5): Show a0001c0011t0018 a0001c0018t0034 a0002c0020t0007 a0002c0036t0007 a0002c0061t0007 a0002c0067t0007 a0018c0043t0007 a0023c0046t0018	a0001c0011t0018g0021 a0001c0018t0034g0290 a0002c0020t0007g0207 others(7): Show a0001c0011t0018g0021 a0001c0018t0034g0290 a0002c0020t0007g0207 a0002c0020t0007g0257 a0002c0020t0007g0287 a0002c0036t0007g0240 a0002c0061t0007g0158 a0002c0067t0007g0028 a0018c0043t0007g0277 a0023c0046t0018g0019	10	296	0.0338	-19	c.477 others(36): Show c.4775-130_4775-112delAAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166222930	CAAAAAAA others(12): Show CAAAAAAAAAAACAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0149 a0001c0001t0015g0149	1	296	0.0034	-19	c.439 others(38): Show c.4398+3618_4398+3636delTTTTGTTGTTTTTTTTTTT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	24/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23377607	CTTCTTTC others(12): Show CTTCTTTCTTCCTTCCTTCA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG02135.hp2 others(5): Show HG00544.hp2 HG02027.hp1 HG02135.hp2 NA18747.hp2 NA18941.hp1 NA18966.hp1 NA19063.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0121 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0002t0001g0008	8	306	0.0261	-19	c.140 others(36): Show c.1404+225_1404+243delTTTCTTCCTTCCTTCATTC	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289317	TCCCGTGT others(12): Show TCCCGTGTCCCTGCTCCGTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	290	0.0035	-19	c.166 others(36): Show c.1663-950_1663-932delGTGTCCCTGCTCCGTCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23190831	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp2 HG01891.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0060 a0001c0001t0006g0225 a0001c0001t0006g0060 a0001c0001t0006g0225	2	320	0.0063	-19	c.618 others(36): Show c.618+1172_618+1190delTTTTTTTTTTTTTTTTTTT	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52957899	TCTTTTTT others(12): Show TCTTTTTTCCATTATATTGC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	280	0.0036	-19	c.396 others(36): Show c.396+3100_396+3118delTTTCCATTATATTGCCTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRN3_chr2_174390730_174434575	174407770	TTGAGTGG others(12): Show TTGAGTGGGATTCTTAATCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	364	0.0028	-19	c.754 others(36): Show c.754+3461_754+3479delGGGATTCTTAATCCTGAGT	SCRN3	ENSG00000144306.15	transcript	ENST00000272732.11	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDHA_chr5_213320_262082	237196	TTTAGGGG others(12): Show TTTAGGGGAATCATTACATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01168.hp2 others(7): Show HG00735.hp2 HG01081.hp2 HG01168.hp2 HG02280.hp2 HG02647.hp2 HG03471.hp1 HG03669.hp2 NA18522.hp2 NA18965.hp2 NA19081.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0004c0005t0006 a0002c0003t0004 a0004c0005t0004 a0004c0005t0006	a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 others(6): Show a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 a0002c0003t0004g0103 a0002c0003t0004g0104 a0004c0005t0004g0106 a0004c0005t0006g0105 a0004c0005t0006g0107 a0004c0005t0006g0108	10	266	0.0376	-19	c.143 others(36): Show c.1432+601_1432+619delGGGGAATCATTACATATTA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDHB_chr1_17013722_17059032	17016035	CTTTCCCT others(12): Show CTTTCCCTACAGATCTGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01106.hp1 others(4): Show HG00642.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01346.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0292 a0001c0001t0001g0293 others(4): Show a0001c0001t0001g0111 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297	7	368	0.0190	-19	c.28 others(30): Show c.2827_*2845delCTCCAGATCTGTAGGGAAA	SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding		2686		chr1	TogoVar
SDHD_chr11_112081873_112100794	112088253	GCAGTGGT others(12): Show GCAGTGGTGCGATCTCGGCT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	388	0.0026	-19	c.169 others(34): Show c.169+283_169+301delGTGGTGCGATCTCGGCTCA	SDHD	ENSG00000204370.13	transcript	ENST00000375549.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDK1_chr7_3296252_4274000	3357328	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0086 a0012c0086	a0012c0086t0046 a0012c0086t0046	a0012c0086t0046g0012 a0012c0086t0046g0012	1	116	0.0086	-19	c.298 others(38): Show c.298+55465_298+55483delTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3718569	AAATAAAT others(12): Show AAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0056 a0002c0009t0056	a0002c0009t0056g0044 a0002c0009t0056g0044	1	116	0.0086	-19	c.713 others(38): Show c.713+76466_713+76484delATAAATAAATAAATAAATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp1 HG01243.hp1 others(14): Show HG01081.hp2 HG01167.hp1 HG01243.hp1 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp1 NA18522.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0008 a0009 a0010 a0013 a0025 a0026 a0027 a0029 a0031	a0001c0064 a0001c0088 a0001c0091 others(13): Show a0001c0064 a0001c0088 a0001c0091 a0001c0093 a0002c0013 a0005c0076 a0008c0015 a0009c0082 a0010c0019 a0010c0020 a0013c0084 a0025c0070 a0026c0069 a0027c0068 a0029c0063 a0031c0074	a0001c0064t0006 a0001c0088t0009 a0001c0091t0010 others(13): Show a0001c0064t0006 a0001c0088t0009 a0001c0091t0010 a0001c0093t0006 a0002c0013t0064 a0005c0076t0003 a0008c0015t0017 a0009c0082t0001 a0010c0019t0074 a0010c0020t0070 a0013c0084t0045 a0025c0070t0026 a0026c0069t0069 a0027c0068t0014 a0029c0063t0007 a0031c0074t0042	a0001c0064t0006g0111 a0001c0088t0009g0048 a0001c0091t0010g0055 others(14): Show a0001c0064t0006g0111 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0093t0006g0053 a0002c0013t0064g0026 a0005c0076t0003g0072 a0008c0015t0017g0059 a0008c0015t0017g0066 a0009c0082t0001g0076 a0010c0019t0074g0009 a0010c0020t0070g0008 a0013c0084t0045g0011 a0025c0070t0026g0112 a0026c0069t0069g0064 a0027c0068t0014g0014 a0029c0063t0007g0106 a0031c0074t0042g0081	17	116	0.1466	-19	c.242 others(36): Show c.2420+339_2420+357delTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4081434	TTTTTGAG others(12): Show TTTTTGAGACAGAATCTTGC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0105 a0002c0042t0002g0105	1	116	0.0086	-19	c.332 others(38): Show c.3324+1852_3324+1870delTTTGAGACAGAATCTTGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4125046	ATGGATGG others(12): Show ATGGATGGATGGGTAATGGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0035 a0035	a0035c0018 a0035c0018	a0035c0018t0071 a0035c0018t0071	a0035c0018t0071g0005 a0035c0018t0071g0005	1	116	0.0086	-19	c.382 others(38): Show c.3824-2323_3824-2305delGTAATGGGTGGATGGATGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73483688	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0089 a0002c0020t0089	a0002c0020t0089g0106 a0002c0020t0089g0106	1	204	0.0049	-19	c.225 others(38): Show c.225-11489_225-11471delTATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73570215	TACACCCC others(12): Show TACACCCCTGCCTCCTAAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp2 others(28): Show HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG00733.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01361.hp1 HG01884.hp2 HG01981.hp2 HG02145.hp2 HG02258.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA19043.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0018 a0019 a0027	a0001c0002 a0001c0003 a0001c0006 others(25): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0015 a0001c0018 a0001c0023 a0001c0026 a0001c0052 a0001c0084 a0001c0094 a0001c0111 a0002c0028 a0002c0104 a0003c0017 a0005c0012 a0007c0019 a0007c0083 a0008c0044 a0008c0047 a0008c0090 a0009c0021 a0018c0086 a0019c0081 a0027c0076	a0001c0002t0001 a0001c0002t0010 a0001c0003t0011 others(28): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0011 a0001c0003t0020 a0001c0006t0020 a0001c0007t0003 a0001c0008t0030 a0001c0010t0043 a0001c0013t0013 a0001c0015t0004 a0001c0018t0008 a0001c0023t0008 a0001c0023t0017 a0001c0026t0035 a0001c0052t0007 a0001c0084t0088 a0001c0094t0005 a0001c0111t0001 a0002c0028t0060 a0002c0104t0003 a0003c0017t0005 a0005c0012t0058 a0007c0019t0075 a0007c0083t0076 a0008c0044t0023 a0008c0047t0023 a0008c0090t0023 a0009c0021t0019 a0018c0086t0012 a0019c0081t0001 a0027c0076t0034	a0001c0002t0001g0137 a0001c0002t0010g0181 a0001c0003t0011g0067 others(28): Show a0001c0002t0001g0137 a0001c0002t0010g0181 a0001c0003t0011g0067 a0001c0003t0020g0155 a0001c0006t0020g0202 a0001c0007t0003g0026 a0001c0008t0030g0103 a0001c0010t0043g0069 a0001c0013t0013g0195 a0001c0015t0004g0150 a0001c0018t0008g0016 a0001c0023t0008g0034 a0001c0023t0017g0189 a0001c0026t0035g0070 a0001c0052t0007g0056 a0001c0084t0088g0015 a0001c0094t0005g0089 a0001c0111t0001g0203 a0002c0028t0060g0018 a0002c0104t0003g0196 a0003c0017t0005g0193 a0005c0012t0058g0040 a0007c0019t0075g0017 a0007c0083t0076g0037 a0008c0044t0023g0068 a0008c0047t0023g0019 a0008c0090t0023g0071 a0009c0021t0019g0045 a0018c0086t0012g0204 a0019c0081t0001g0186 a0027c0076t0034g0020	31	204	0.1520	-19	c.65- others(36): Show c.65-62637_65-62619delGCTTAGGAGGCAGGGGTGT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56310213	AAGGAGGA others(12): Show AAGGAGGAGGAGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	398	0.0025	-19	c.466 others(36): Show c.466-1205_466-1187delCCTTCCTCCTCCTCCTCCT	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SDR16C5_chr8_56295005_56325175	56310229	AAGGAGGA others(12): Show AAGGAGGAGGAGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	398	0.0025	-19	c.466 others(36): Show c.466-1221_466-1203delCCTTCCTCCTCCTCCTCCT	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SDR16C5_chr8_56295005_56325175	56310277	AAGGAGGA others(12): Show AAGGAGGAGGAGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(153): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(74): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0005g0026 a0001c0001t0005g0162 a0001c0001t0010g0049 a0001c0001t0012g0153 a0001c0001t0013g0215 a0001c0001t0014g0207 a0001c0003t0001g0180 a0003c0004t0001g0188	156	398	0.3920	-19	c.466 others(36): Show c.466-1269_466-1251delCCTTCCTCCTCCTCCTCCT	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19085.hp1 HG02559.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0141 a0001c0001t0002g0080 a0001c0001t0001g0141 a0001c0001t0002g0080	2	320	0.0063	-19	c.52- others(34): Show c.52-8968_52-8950delTTTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC14L1_chr17_77135969_77222101	77158798	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02559.hp1 HG00639.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0009 a0001c0001t0032g0009	2	430	0.0047	-19	c.63+ others(36): Show c.63+15154_63+15172delTTTTTTTTTTTTTTTTTTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L5_chr16_4953330_5024157	5012890	CTCAAAAA others(12): Show CTCAAAAAGAAAAAGGAAAA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	376	0.0027	-19	c.197 others(38): Show c.1979+1618_1979+1636delTCAAAAAGAAAAAGGAAAA	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	15/15			chr16	TogoVar
SEC22A_chr3_123196943_123279136	123260131	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	340	0.0029	-19	c.723 others(34): Show c.723+562_723+580delAAAAAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC23A_chr14_39026919_39108235	39059278	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01346.hp2 HG00140.hp2 HG01081.hp1 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0113 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0113	3	366	0.0082	-19	c.150 others(38): Show c.1505+2468_1505+2486delTTTTTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39061299	TCCTAAAA others(12): Show TCCTAAAACAGAACCTACTC	T T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	366	0.0027	-19	c.150 others(36): Show c.1505+447_1505+465delGAGTAGGTTCTGTTTTAGG	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094424	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	366	0.0027	-19	c.222 others(36): Show c.222-1199_222-1181delATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094426	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	366	0.0027	-19	c.222 others(36): Show c.222-1201_222-1183delAAATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094430	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	366	0.0027	-19	c.222 others(36): Show c.222-1205_222-1187delAAAAAAATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18973.hp2 NA18957.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0209 a0001c0001t0001g0121 a0001c0001t0001g0209	2	222	0.0090	-19	c.133 others(36): Show c.133+5499_133+5517delTTTTTTTTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC61G_chr7_54747253_54764211	54756969	ATATACTA others(12): Show ATATACTATATACTATATAC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp2 NA20805.hp2 HG01358.hp1 HG01361.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	406	0.0074	-19	c.94+ others(32): Show c.94+507_94+525delGTATATAGTATATAGTATA	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding	2/3			chr7	TogoVar

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Search Results (Total: 7091 hits)