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
SCNN1D_chr1_1275436_1297025	1289651	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	290	0.0035	40	c.166 others(57): Show c.1663-617_1663-616insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289707	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	290	0.0035	40	c.166 others(57): Show c.1663-561_1663-560insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289803	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	290	0.0035	40	c.166 others(57): Show c.1663-465_1663-464insCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289895	T T	TGTCTCTG others(33): Show TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0070 a0007c0006t0001g0070	1	290	0.0035	40	c.166 others(57): Show c.1663-360_1663-359insCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289908	T T	TCCCCCGT others(33): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	290	0.0035	40	c.166 others(57): Show c.1663-360_1663-359insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289991	C C	CCTGCTCC others(33): Show CCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0114 a0002c0003t0004g0114	1	290	0.0035	40	c.166 others(57): Show c.1663-268_1663-267insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290054	T T	TCCCGTGT others(33): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG02109.hp2 HG02970.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0284 a0008c0007t0004g0285 a0008c0007t0004g0284 a0008c0007t0004g0285	2	290	0.0069	40	c.166 others(57): Show c.1663-196_1663-195insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1293731	A A	ACGACCCT others(33): Show ACGACCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18947.hp2 NA18973.hp2 others(1): Show NA18946.hp2 NA18947.hp2 NA18973.hp2 NA19081.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0014 a0002c0002 a0009c0014	a0002c0002t0001 a0009c0014t0001 a0002c0002t0001 a0009c0014t0001	a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0102 others(1): Show a0002c0002t0001g0088 a0002c0002t0001g0094 a0002c0002t0001g0102 a0009c0014t0001g0009	4	290	0.0138	40	c.21 others(51): Show c.2121_*2122insCGACCCTGCCCTGGAGGCCCCGCCCCTGCCCTGG AGGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		1707		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1293731	A A	ACGCCCCT others(33): Show ACGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01106.hp2 others(12): Show HG00639.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01993.hp1 HG02300.hp1 HG02486.hp2 HG03209.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0009 a0002c0003 others(3): Show a0001c0001 a0001c0009 a0002c0003 a0004c0005 a0004c0008 a0005c0017	a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0009t0001 a0002c0003t0001 a0004c0005t0010 a0004c0008t0001 a0005c0017t0002	a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0188 others(12): Show a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0009t0001g0205 a0001c0009t0001g0210 a0001c0009t0001g0211 a0001c0009t0001g0218 a0002c0003t0001g0091 a0004c0005t0010g0124 a0004c0005t0010g0125 a0004c0008t0001g0241 a0005c0017t0002g0288	15	290	0.0517	40	c.21 others(51): Show c.2121_*2122insCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTGG AGGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		1707		chr1	TogoVar
SCP2_chr1_52922276_53056698	52960590	A A	ATATGTAT others(33): Show ATATGTATATATATGTATATATGTATGTATATGTATATATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03453.hp1 others(2): Show HG03130.hp1 HG03139.hp1 HG03453.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0004t0008 a0001c0004t0011 a0001c0002t0006 a0001c0004t0008 a0001c0004t0011	a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0004t0008g0044 others(2): Show a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048	5	280	0.0179	40	c.397 others(55): Show c.397-902_397-901insATGTATATATGTATGTATATGTATATATGT ATGTATATAT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0138 a0003c0003t0015g0138	1	358	0.0028	40	c.120 others(57): Show c.1208-967_1208-966insAATATATATATATATATATATATATATA TATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCX_chr8_144261453_144273481	144262838	G G	GCCCCCCC others(33): Show GCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	440	0.0023	40	c.-37 others(51): Show c.-3776_-3775insCCCCCCCCCCACCCCTCACCTGCAGGGTACACCG CCCCCC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3614		chr8	TogoVar
SCX_chr8_144261453_144273481	144262838	G G	GCCCCCCC others(33): Show GCCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	40	c.-37 others(51): Show c.-3776_-3775insCCCCCCCCCCCACCCCTCACCTGCAGGGTACACC GCCCCC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3614		chr8	TogoVar
SCYGR8_chr2_227740894_227751220	227749841	A A	ATCCTTCC others(33): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp2 others(99): Show HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 NA18940.hp1 NA18941.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19006.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp2 NA19059.hp1 NA19059.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0002c0002 a0002c0008 others(4): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0005c0005 a0008c0009	a0001c0001t0000 a0002c0002t0000 a0002c0008t0000 others(4): Show a0001c0001t0000 a0002c0002t0000 a0002c0008t0000 a0003c0003t0000 a0004c0004t0000 a0005c0005t0000 a0008c0009t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0002c0008t0000g0000 others(4): Show a0001c0001t0000g0000 a0002c0002t0000g0000 a0002c0008t0000g0000 a0003c0003t0000g0000 a0004c0004t0000g0000 a0005c0005t0000g0000 a0008c0009t0000g0000	102	457	0.2232	40	c.36 others(51): Show c.3621_*3622insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		3622		chr2	TogoVar
SCYL2_chr12_100262177_100346715	100294818	G G	GGACGGGG others(33): Show GGACGGGGTGGCTGCTGGGCGGAGACGCTCCTCATTTCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp1 NA18522.hp1 HG00735.hp1 HG01258.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013	3	220	0.0136	40	c.335 others(57): Show c.335+3173_336-3159dupTGGGCGGAGACGCTCCTCATTTCCCAGA CGGGGTGGCTGC	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp1 HG02155.hp2 others(3): Show HG00597.hp1 HG01074.hp1 HG02155.hp2 NA18939.hp2 NA19056.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0005	a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0003g0319 others(3): Show a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0003g0319 a0001c0001t0003g0323 a0001c0001t0004g0043 a0002c0002t0005g0190	6	334	0.0180	40	c.61- others(57): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	398	0.0025	40	c.-19 others(51): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	330	0.0030	40	c.-48 others(51): Show c.-4854_-4853insTATATATATATATATATATATATATATATATATT TTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(33): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	330	0.0030	40	c.-48 others(51): Show c.-4854_-4853insTATATATATATATATATATATTTTTTTTTTTTTT TTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02155.hp1 HG02622.hp1 HG01975.hp1 HG02155.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0134	3	330	0.0091	40	c.180 others(55): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3723932	A A	ACATATAC others(33): Show ACATATACACGTGTATATACACGTACATATACATATACACG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04228.hp1 HG01123.hp2 HG04228.hp1	a0001 a0007 a0001 a0007	a0001c0004 a0007c0077 a0001c0004 a0007c0077	a0001c0004t0005 a0007c0077t0003 a0001c0004t0005 a0007c0077t0003	a0001c0004t0005g0102 a0007c0077t0003g0099 a0001c0004t0005g0102 a0007c0077t0003g0099	2	116	0.0172	40	c.713 others(59): Show c.713+81827_713+81828insCATATACACGTGTATATACACGTACA TATACATATACACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3806279	C C	CTAGGATG others(33): Show CTAGGATGTGGATGTCCACATTAGGATGTGGATGTCCACAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0063 a0003c0001t0063	a0003c0001t0063g0032 a0003c0001t0063g0032	1	116	0.0086	40	c.714 others(59): Show c.714-15105_714-15066dupTGTGGATGTCCACATTAGGATGTGGA TGTCCACATTAGGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0020 a0001c0027t0020	a0001c0027t0020g0087 a0001c0027t0020g0087	1	116	0.0086	40	c.301 others(59): Show c.3011-2113_3011-2112insCTCTCTCTCTCTGTGTGTGTGTATAT ATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC24B_chr4_109428815_109545896	109489643	G G	GATATATT others(33): Show GATATATTATAATATATATGGTATATATATGATATATTATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00642.hp2 others(61): Show HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01975.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18942.hp1 NA18947.hp1 NA18957.hp2 NA18960.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18998.hp1 NA19010.hp1 NA19060.hp2 NA19062.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0015 a0002c0004 a0003c0005 a0004c0007 a0006c0014 a0008c0012 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0003t0003 a0001c0003t0005 a0001c0006t0002 a0001c0006t0016 a0001c0008t0008 a0001c0015t0003 a0002c0004t0005 a0003c0005t0003 a0003c0005t0005 a0004c0007t0003 a0006c0014t0003 a0008c0012t0002 a0009c0013t0003	a0001c0001t0001g0045 a0001c0001t0002g0051 a0001c0001t0002g0071 others(61): Show a0001c0001t0001g0045 a0001c0001t0002g0051 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0212 a0001c0001t0009g0087 a0001c0001t0012g0013 a0001c0001t0014g0012 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0110 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0099 a0001c0002t0004g0100 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0004g0105 a0001c0002t0004g0106 a0001c0002t0004g0107 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0015g0098 a0001c0003t0003g0060 a0001c0003t0003g0063 a0001c0003t0005g0053 a0001c0003t0005g0054 a0001c0003t0005g0056 a0001c0003t0005g0057 a0001c0003t0005g0059 a0001c0003t0005g0062 a0001c0003t0005g0064 a0001c0006t0002g0092 a0001c0006t0016g0093 a0001c0008t0008g0219 a0001c0008t0008g0220 a0001c0015t0003g0216 a0002c0004t0005g0052 a0002c0004t0005g0061 a0002c0004t0005g0065 a0003c0005t0003g0055 a0003c0005t0005g0058 a0004c0007t0003g0214 a0004c0007t0003g0215 a0006c0014t0003g0111 a0008c0012t0002g0085 a0009c0013t0003g0213	64	222	0.2883	40	c.116 others(59): Show c.1166-1678_1166-1677insTATAATATATATGGTATATATATGAT ATATTATAATATAT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	328	0.0031	40	c.296 others(57): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC63_chr6_107862756_107963208	107934488	A A	ATCTGAGA others(33): Show ATCTGAGAAGTGAGGAGACCCTCCGCCTGGCAACCGCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00558.hp2 others(69): Show HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00621.hp2 HG00735.hp1 HG00741.hp2 HG01256.hp2 HG01258.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02273.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG03139.hp1 HG03486.hp1 HG03688.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 others(11): Show a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0015 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0003c0005t0005	a0001c0001t0021g0205 a0001c0001t0021g0230 a0001c0002t0001g0005 others(63): Show a0001c0001t0021g0205 a0001c0001t0021g0230 a0001c0002t0001g0005 a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0005g0006 a0001c0002t0005g0174 a0001c0002t0005g0181 a0001c0002t0005g0182 a0001c0002t0005g0183 a0001c0002t0005g0185 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0005g0189 a0001c0002t0005g0190 a0001c0002t0005g0194 a0001c0002t0005g0195 a0001c0002t0005g0196 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0010g0004 a0001c0002t0010g0184 a0001c0002t0010g0191 a0001c0002t0010g0192 a0001c0002t0010g0193 a0001c0002t0015g0201 a0001c0002t0015g0202 a0001c0002t0015g0311 a0001c0002t0015g0313 a0001c0002t0025g0290 a0001c0002t0025g0307 a0001c0002t0026g0203 a0001c0002t0026g0204 a0001c0002t0027g0231 a0001c0002t0027g0232 a0001c0002t0053g0291 a0001c0002t0054g0312 a0001c0002t0055g0300 a0001c0002t0056g0197 a0003c0005t0005g0186	72	332	0.2169	40	c.125 others(57): Show c.125-4975_125-4974insCGGGGCGGTTGCCAGGCGGAGGGTCTCC TCACTTCTCAGA	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18522.hp1 NA18747.hp1 others(3): Show HG02040.hp1 NA18522.hp1 NA18747.hp1 NA18950.hp2 NA18977.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0033 a0001c0001t0003g0093 a0001c0001t0003g0179 others(3): Show a0001c0001t0003g0033 a0001c0001t0003g0093 a0001c0001t0003g0179 a0001c0001t0003g0194 a0001c0001t0003g0273 a0002c0002t0002g0138	6	312	0.0192	40	c.19 others(51): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT ATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SEMA3E_chr7_83358238_83654139	83390048	C C	CGTATATG others(33): Show CGTATATGTGTATACGTATACACATATATACGCGTATATGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0073 a0001c0001t0070g0073	1	226	0.0044	40	c.166 others(59): Show c.1667+2506_1667+2507insACATATACGCGTATATATGTGTATAC GTATACACATATAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0018 a0001c0021 a0001c0018 a0001c0021	a0001c0018t0002 a0001c0021t0020 a0001c0018t0002 a0001c0021t0020	a0001c0018t0002g0130 a0001c0021t0020g0004 a0001c0018t0002g0130 a0001c0021t0020g0004	2	134	0.0149	40	c.207 others(61): Show c.2073+19480_2073+19481insGTGTGTGTGTATATATATATATAT ATATATATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353106	G G	GGAAAGGA others(33): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0052 a0001c0005t0001g0052	1	134	0.0075	40	c.125 others(59): Show c.125-15295_125-15294insTTTCCTTTCCTTTCCCTTTCCTTTCC TTTCCTTTCCTTTC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353162	G G	GAAAGGAA others(33): Show GAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0034 a0001c0007t0034	a0001c0007t0034g0033 a0001c0007t0034g0033	1	134	0.0075	40	c.125 others(59): Show c.125-15351_125-15350insTCCCTTCCTTTCCCTTCCTTTCCCTC CTTTCCTTTCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353184	G G	GGGAAAGG others(33): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0086 a0001c0005t0007g0086	1	134	0.0075	40	c.125 others(59): Show c.125-15373_125-15372insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353189	G G	GGGAAAGG others(33): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0128 a0001c0001t0067g0128	1	134	0.0075	40	c.125 others(59): Show c.125-15417_125-15378dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116579517	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	304	0.0033	40	c.-53 others(51): Show c.-5372_-5371insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding		4695		chr5	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	394	0.0025	40	c.553 others(57): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TATATATATATA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02135.hp2 NA18952.hp2 others(1): Show HG00673.hp1 HG02135.hp2 NA18952.hp2 NA18987.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0002c0004t0001 a0001c0001t0001 a0001c0001t0007 a0002c0004t0001	a0001c0001t0001g0363 a0001c0001t0001g0366 a0001c0001t0007g0262 others(1): Show a0001c0001t0001g0363 a0001c0001t0001g0366 a0001c0001t0007g0262 a0002c0004t0001g0373	4	394	0.0102	40	c.553 others(57): Show c.553-3542_553-3541insGTGTGTGTATATATATATATATATATAT ATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02004.hp2 NA18971.hp1 others(4): Show HG01928.hp1 HG02004.hp2 NA18971.hp1 NA19072.hp1 NA19079.hp2 NA19083.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0002c0004t0001 a0001c0001t0001 a0001c0001t0007 a0002c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0279 a0001c0001t0001g0356 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0279 a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0007g0267 a0002c0004t0001g0369	7	394	0.0178	40	c.553 others(57): Show c.553-3542_553-3541insGTGTGTATATATATATATATATATATAT ATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	394	0.0025	40	c.553 others(57): Show c.553-3542_553-3541insGTATGTATATATATATATATATATATAT ATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	394	0.0025	40	c.553 others(57): Show c.553-3542_553-3541insGTGTATATATATATATATATATATATAT ATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01928.hp2 NA18968.hp1 others(3): Show HG01069.hp2 HG01928.hp2 NA18968.hp1 NA18971.hp2 NA19007.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0003g0264	6	394	0.0152	40	c.553 others(57): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT ATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185631486	C C	CCCCTCCC others(33): Show CCCCTCCCCCCTCCCTCCCTCCCCCTCCCCCCTCCCTCCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0086 a0002c0002t0086	a0002c0002t0086g0286 a0002c0002t0086g0286	1	360	0.0028	40	c.16 others(51): Show c.1643_*1644insCCTCCCCCCTCCCTCCCTCCCCCTCCCCCCTCCC TCCCTC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1644	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0072 a0001c0002t0008g0072	1	306	0.0033	40	c.188 others(59): Show c.1885-8827_1885-8826insAAAAAAAATATATATATATATATATA TATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0183 a0001c0001t0010g0183	1	362	0.0028	40	c.43 others(51): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SENP7_chr3_101319205_101518212	101364228	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	370	0.0027	40	c.147 others(57): Show c.1476+605_1476+606insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	10/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101410845	A A	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG03098.hp1 HG02145.hp1 HG02630.hp1 HG03098.hp1	a0004 a0007 a0004 a0007	a0004c0006 a0007c0010 a0004c0006 a0007c0010	a0004c0006t0002 a0007c0010t0002 a0004c0006t0002 a0007c0010t0002	a0004c0006t0002g0169 a0004c0006t0002g0171 a0007c0010t0002g0103 a0004c0006t0002g0169 a0004c0006t0002g0171 a0007c0010t0002g0103	3	370	0.0081	40	c.482 others(57): Show c.482+6708_482+6747dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	5/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463378	T T	TATATATA others(33): Show TATATATATATATATATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0291 a0005c0007t0001g0291	1	370	0.0027	40	c.187 others(57): Show c.187-4327_187-4326insGTATATATATATATATATATATGTATAT ATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463400	T T	TATATATA others(33): Show TATATATATATATATATATACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0288 a0005c0007t0001g0288	1	370	0.0027	40	c.187 others(57): Show c.187-4349_187-4348insGTGTATATATATATATATATGTATATAT ATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPHS1_chr10_13312428_13353293	13352431	C C	CACTGGGC others(33): Show CACTGGGCTGGAGGAAACTCAGAACTTAGAGATCCTGCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	378	0.0027	40	c.-45 others(51): Show c.-4511_-4510insATGGCAGGATCTCTAAGTTCTGAGTTTCCTCCAG CCCAGT	SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding		4139		chr10	TogoVar
SEPTIN10_chr2_109537799_109618966	109604383	A A	AAGGGGAG others(33): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGCGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01934.hp2 HG02027.hp1 others(28): Show HG00609.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02523.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18951.hp2 NA18966.hp2 NA18968.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18995.hp2 NA19000.hp2 NA19058.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0132 others(26): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0179	31	404	0.0767	40	c.30+ others(55): Show c.30+9414_30+9415insCCCCTCCCCGCCCCTCCCCTCCCCTCCCCT CCCCTCCCCT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	1/10			chr2	TogoVar
SEPTIN11_chr4_76944752_77043615	77016633	C C	CACATATA others(33): Show CACATATATATATATACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0246 a0001c0001t0008g0246	1	370	0.0027	40	c.687 others(57): Show c.687+1617_687+1618insCATATATATATATACACACACACATATA TATATATATATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar

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