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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SETD3_chr14_99392748_99485859	99403489	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	290	0.0035	19	c.117 others(36): Show c.1177+735_1177+736insGAGAGAGAGAGAGAGAGAG	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	11/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG02735.hp2 others(4): Show HG01109.hp2 HG02257.hp2 HG02735.hp2 HG04199.hp2 NA18990.hp2 NA18992.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0096	7	290	0.0241	19	c.676 others(36): Show c.676-9673_676-9655dupTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9406607	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0154 a0001c0001t0020g0154	1	240	0.0042	19	c.-17 others(38): Show c.-177+8644_-177+8645insAAAAAAAAAAAAAAAAAAA	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9445962	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG03579.hp1 others(4): Show HG00639.hp1 HG01978.hp2 HG03579.hp1 NA18994.hp2 NA19070.hp1 NA19081.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014	a0001c0001t0003g0210 a0001c0001t0003g0216 a0001c0001t0003g0220 others(4): Show a0001c0001t0003g0210 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0011g0222 a0001c0001t0014g0172	7	240	0.0292	19	c.152 others(36): Show c.1524+224_1524+225insTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9445965	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0029 a0001c0003t0010 a0001c0003t0029	a0001c0003t0010g0195 a0001c0003t0010g0204 a0001c0003t0029g0194 a0001c0003t0010g0195 a0001c0003t0010g0204 a0001c0003t0029g0194	3	240	0.0125	19	c.152 others(36): Show c.1524+230_1524+248dupTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD9_chr5_56904596_56922348	56908069	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03471.hp2 HG02723.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0002c0002t0001g0008 a0001c0001t0001g0005 a0002c0002t0001g0008	2	426	0.0047	19	c.-15 others(30): Show c.-1577_-1576insTTTTTTTTTTTTTTTTTTT	SETD9	ENSG00000155542.12	transcript	ENST00000285947.5	protein_coding		1526		chr5	TogoVar
SETDB2_chr13_49439274_49500003	49471935	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02976.hp1 HG01109.hp1 HG02976.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0009 a0003c0004 a0007c0009	a0003c0004t0018 a0007c0009t0021 a0003c0004t0018 a0007c0009t0021	a0003c0004t0018g0196 a0007c0009t0021g0194 a0003c0004t0018g0196 a0007c0009t0021g0194	2	406	0.0049	19	c.305 others(36): Show c.305+3975_305+3976insATATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13			chr13	TogoVar
SEZ6L_chr22_26164462_26388596	26304361	A A	AAAAGAAG others(12): Show AAAAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	240	0.0042	19	c.134 others(38): Show c.1349-1612_1349-1611insGAAAGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26304381	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0074 a0002c0002t0004g0075	2	240	0.0083	19	c.134 others(38): Show c.1349-1595_1349-1577dupGAAAGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAAG others(12): Show AAGAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0080 a0001c0001t0011g0080	1	240	0.0042	19	c.240 others(36): Show c.2407+734_2407+735insGAAAAGAAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348831	G G	GAGGGAAG others(12): Show GAGGGAAGGGGAGGGAAGGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0191 a0002c0005t0001g0191	1	240	0.0042	19	c.240 others(36): Show c.2407+918_2407+919insAGGGAAGGGGAGGGAAGGT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16			chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG03225.hp1 others(2): Show HG01243.hp1 HG01891.hp1 HG03225.hp1 HG03540.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0002 a0002c0005 others(1): Show a0001c0008 a0002c0002 a0002c0005 a0003c0004	a0001c0008t0004 a0002c0002t0004 a0002c0005t0004 others(1): Show a0001c0008t0004 a0002c0002t0004 a0002c0005t0004 a0003c0004t0004	a0001c0008t0004g0002 a0002c0002t0004g0187 a0002c0005t0004g0181 others(2): Show a0001c0008t0004g0002 a0002c0002t0004g0187 a0002c0005t0004g0181 a0003c0004t0004g0102 a0003c0004t0004g0111	5	240	0.0208	19	c.279 others(38): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02080.hp1 HG02155.hp2 others(12): Show HG01515.hp1 HG02080.hp1 HG02155.hp2 HG02258.hp2 HG02647.hp2 HG03942.hp2 NA18941.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp1 NA19004.hp2 NA19043.hp1 NA19060.hp2 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0044	a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 others(12): Show a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0004g0021 a0001c0001t0004g0359 a0001c0001t0004g0360 a0001c0001t0007g0190 a0001c0001t0007g0306 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0291 a0001c0002t0004g0279 a0001c0002t0007g0162 a0001c0002t0044g0165	15	400	0.0375	19	c.468 others(34): Show c.468+564_468+582dupTTTTTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01516.hp1 HG02300.hp1 HG00735.hp2 HG01516.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0063 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0001t0004g0063 a0001c0002t0002g0132 a0001c0002t0002g0133	3	344	0.0087	19	c.495 others(34): Show c.495+256_495+274dupTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02886.hp1 HG02451.hp2 HG02559.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0034 a0001c0001t0021 a0001c0001t0034	a0001c0001t0021g0126 a0001c0001t0021g0140 a0001c0001t0034g0071 a0001c0001t0021g0126 a0001c0001t0021g0140 a0001c0001t0034g0071	3	342	0.0088	19	c.571 others(34): Show c.571-112_571-111insAAAAAAAAAAAAAAAAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 NA18984.hp1 HG01257.hp1 HG01258.hp2 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0115 a0002c0006t0001g0013 a0002c0006t0001g0014 a0002c0002t0001g0115 a0002c0006t0001g0013 a0002c0006t0001g0014	3	322	0.0093	19	c.124 others(38): Show c.1249-1638_1249-1637insATATATATATATATATATT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18995.hp1 HG00621.hp2 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0112 a0002c0002t0001g0068 a0002c0002t0001g0112	2	322	0.0062	19	c.124 others(38): Show c.1249-1638_1249-1637insATATATATATATATTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	322	0.0031	19	c.124 others(38): Show c.1249-1638_1249-1637insATATATATATATTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582237	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	322	0.0031	19	c.124 others(38): Show c.1249-1638_1249-1637insATATATATATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612388	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	322	0.0031	19	c.249 others(36): Show c.2490+548_2490+549insTATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612390	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18954.hp1 NA18994.hp2 others(1): Show HG04204.hp1 NA18954.hp1 NA18994.hp2 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0113 others(1): Show a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0113 a0002c0002t0001g0322	4	322	0.0124	19	c.249 others(36): Show c.2490+550_2490+551insTATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	322	0.0031	19	c.249 others(36): Show c.2490+552_2490+553insTATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612396	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	322	0.0031	19	c.249 others(36): Show c.2490+556_2490+557insTATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612398	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	322	0.0031	19	c.249 others(36): Show c.2490+559_2490+560insAAAAAAAAATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	328	0.0031	19	c.124 others(36): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52949568	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	328	0.0031	19	c.123 others(36): Show c.123+4730_123+4748dupAAAAAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53006628	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 HG02809.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0314 a0001c0002t0002g0310 a0001c0001t0004g0314 a0001c0002t0002g0310	2	328	0.0061	19	c.-13 others(40): Show c.-130-37371_-130-37370insTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02451.hp1 HG02723.hp2 others(1): Show HG00438.hp1 HG02451.hp1 HG02723.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0034 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035	4	328	0.0122	19	c.-13 others(38): Show c.-131+4829_-131+4847dupAAAAAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7246392	C C	CTATTTAA others(12): Show CTATTTAAAGGCATAAGAAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0128 a0001c0001t0022g0128	1	144	0.0069	19	c.972 others(36): Show c.972+2137_972+2155dupATTCTTATGCCTTTAAATA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	8/20			chr10	TogoVar
SFT2D1_chr6_166314728_166347545	166314867	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0049 a0001c0002t0002g0014 a0001c0002t0002g0049	2	388	0.0052	19	c.53 others(30): Show c.5349_*5350insAAAAATATATATATATATA	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		4860		chr6	TogoVar
SFTPA1_chr10_79605939_79620443	79614816	C C	CGCCTTCA others(12): Show CGCCTTCAGATGTGACCCGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0030 a0003c0003t0019g0030	1	472	0.0021	19	c.70 others(28): Show c.705_*723dupCCTTCAGATGTGACCCGAG	SFTPA1	ENSG00000122852.15	transcript	ENST00000398636.8	protein_coding	6/6	724	INFO_REALIGN_3_PRIME	chr10	TogoVar
SFXN5_chr2_72937036_73076712	73050421	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	250	0.0040	19	c.171 others(36): Show c.171+8106_171+8107insTGTGTGTGTGTGTGTGTGT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCG_chr13_23175979_23330162	23299456	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0006 a0004c0017t0006	a0004c0017t0006g0066 a0004c0017t0006g0066	1	354	0.0028	19	c.578 others(36): Show c.578+3970_578+3971insATTTTTTTTTTTTTTTTTT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCZ_chr8_14079845_15243431	14110348	T T	TTATATAT others(12): Show TTATATATAAAAAATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0090 a0001c0001t0080g0090	1	102	0.0098	19	c.548 others(36): Show c.548-2114_548-2113insTATATATTTTTTATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0102 a0001c0001t0091g0102	1	102	0.0098	19	c.547 others(38): Show c.547+17689_547+17690insATTTTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0054 a0001c0001t0088g0054	1	102	0.0098	19	c.547 others(38): Show c.547+17689_547+17690insATTATTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03486.hp2 HG02132.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0057 a0001c0001t0045 a0001c0001t0057	a0001c0001t0045g0008 a0001c0001t0057g0087 a0001c0001t0045g0008 a0001c0001t0057g0087	2	102	0.0196	19	c.547 others(38): Show c.547+17689_547+17690insATTATTATTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14326111	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01993.hp2 HG02109.hp1 others(2): Show HG01243.hp1 HG01993.hp2 HG02109.hp1 HG02886.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0014 a0001c0001t0046 others(2): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0046 a0002c0002t0004 a0002c0002t0007	a0001c0001t0005g0072 a0001c0001t0014g0024 a0001c0001t0046g0019 others(2): Show a0001c0001t0005g0072 a0001c0001t0014g0024 a0001c0001t0046g0019 a0002c0002t0004g0027 a0002c0002t0007g0070	5	102	0.0490	19	c.235 others(36): Show c.235-1926_235-1908dupTTTTTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14769793	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0077 a0001c0001t0052g0077	1	102	0.0098	19	c.40- others(38): Show c.40-214886_40-214868dupTTTTTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14978470	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0047 a0001c0001t0065g0047	1	102	0.0098	19	c.39+ others(38): Show c.39+259096_39+259114dupTTTTTTTTTTTTTTTTTTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66683700	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02647.hp2 HG02257.hp2 HG02615.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028	a0001c0001t0023g0113 a0001c0001t0026g0207 a0001c0001t0028g0302 a0001c0001t0023g0113 a0001c0001t0026g0207 a0001c0001t0028g0302	3	302	0.0099	19	c.131 others(38): Show c.1315+1341_1315+1359dupTTTTTTTTTTTTTTTTTTT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66695255	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0210 a0002c0006t0007g0210	1	302	0.0033	19	c.157 others(36): Show c.1571-163_1571-162insAAAAAAAAAAAAAAAAAAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66742460	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01943.hp1 others(2): Show HG00099.hp1 HG00140.hp1 HG01943.hp1 HG02132.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0012 a0002c0003t0054 a0001c0001t0001 a0001c0001t0012 a0002c0003t0054	a0001c0001t0001g0094 a0001c0001t0001g0140 a0001c0001t0012g0105 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0140 a0001c0001t0012g0105 a0001c0001t0012g0106 a0002c0003t0054g0190	5	302	0.0166	19	c.246 others(36): Show c.2465-604_2465-586dupTTTTTTTTTTTTTTTTTTT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134191835	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0001g0173 a0001c0001t0001g0210	2	250	0.0080	19	c.361 others(38): Show c.361+15520_361+15521insAAAAAAAAAAAAAAAAAAA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134220058	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	250	0.0040	19	c.286 others(38): Show c.286-12646_286-12628dupTTTTTTTTTTTTTTTTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(12): Show GAAAAGAAAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp2 HG01975.hp1 others(1): Show HG01106.hp2 HG01346.hp2 HG01975.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0083 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0083 a0001c0001t0001g0135	4	250	0.0160	19	c.286 others(38): Show c.286-24983_286-24982insTTCTCTCTTTCTTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134273592	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03710.hp2 HG02970.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0150 a0001c0003t0001g0203 a0001c0001t0001g0150 a0001c0003t0001g0203	2	250	0.0080	19	c.70- others(36): Show c.70-11463_70-11445dupTTTTTTTTTTTTTTTTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66758037	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	142	0.0070	19	c.-12 others(40): Show c.-121-35579_-121-35578insACACACACACACACACACA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16			chr8	TogoVar
SGO2_chr2_200521207_200589096	200522345	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	384	0.0026	19	c.-39 others(30): Show c.-3910_-3909insTTCTTTCTTTCTTTCTTTC	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		3861		chr2	TogoVar
SGO2_chr2_200521207_200589096	200588726	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00673.hp2 others(46): Show HG00408.hp1 HG00639.hp2 HG00673.hp2 HG01123.hp1 HG01169.hp1 HG01243.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp2 HG02809.hp1 HG02896.hp2 HG03486.hp1 HG03579.hp1 HG03831.hp2 HG04228.hp1 NA18939.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18965.hp2 NA18969.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19082.hp2 NA19085.hp1 NA19089.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0004 a0003c0006 others(1): Show a0001c0002 a0001c0004 a0003c0006 a0005c0008	a0001c0002t0001 a0001c0004t0001 a0003c0006t0001 others(2): Show a0001c0002t0001 a0001c0004t0001 a0003c0006t0001 a0003c0006t0003 a0005c0008t0001	a0001c0002t0001g0011 a0001c0002t0001g0038 a0001c0002t0001g0039 others(43): Show a0001c0002t0001g0011 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0293 a0001c0002t0001g0296 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0004t0001g0004 a0001c0004t0001g0014 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0055 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0068 a0001c0004t0001g0074 a0001c0004t0001g0079 a0001c0004t0001g0081 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0001g0092 a0003c0006t0001g0030 a0003c0006t0001g0164 a0003c0006t0001g0170 a0003c0006t0001g0171 a0003c0006t0003g0030 a0005c0008t0001g0083	49	384	0.1276	19	c.52 others(30): Show c.5262_*5263insTTTTTTTTTTTTTTTTTTT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		4631		chr2	TogoVar

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