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
SLC9A5_chr16_67243979_67277191	67260354	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02602.hp2 HG02145.hp1 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0004	2	204	0.0098	19	c.184 others(36): Show c.1842+413_1842+431dupAAAAAAAAAAAAAAAAAAA	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC9A7_chrX_46594251_46764118	46665562	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	250	0.0040	19	c.794 others(36): Show c.794-2920_794-2919insCTTTTTTTTTTTTTTTTTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	5/16			chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49884288	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03490.hp1 homoSapiens_chm13v2.hp1 HG03490.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0310 a0001c0001t0005g0100 a0001c0001t0003g0310 a0001c0001t0005g0100	2	360	0.0056	19	c.149 others(36): Show c.1491+222_1491+223insACACACACACACACACACA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15			chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884291	C C	CACACACA others(12): Show CACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19030.hp1 HG02818.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0307 a0001c0002t0005g0309 a0001c0002t0005g0307 a0001c0002t0005g0309	2	360	0.0056	19	c.149 others(36): Show c.1491+243_1491+244insGACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884293	C C	CACACACA others(12): Show CACACACACACACACACACG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0306 a0001c0002t0005g0306	1	360	0.0028	19	c.149 others(36): Show c.1491+245_1491+246insGACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884337	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0169 a0001c0003t0030g0169	1	360	0.0028	19	c.149 others(36): Show c.1491+271_1491+272insACACACACACACACACACA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15			chr20	TogoVar
SLC9B2_chr4_103017253_103081761	103072056	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 NA19030.hp2 others(1): Show HG02486.hp2 HG02818.hp2 NA19030.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 a0001c0001 a0001c0003 a0003c0011	a0001c0001t0002 a0001c0003t0003 a0003c0011t0027 a0001c0001t0002 a0001c0003t0003 a0003c0011t0027	a0001c0001t0002g0059 a0001c0003t0003g0079 a0001c0003t0003g0080 others(1): Show a0001c0001t0002g0059 a0001c0003t0003g0079 a0001c0003t0003g0080 a0003c0011t0027g0297	4	356	0.0112	19	c.-43 others(36): Show c.-43+4109_-43+4127dupAAAAAAAAAAAAAAAAAAA	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	1/11			chr4	TogoVar
SLC9C1_chr3_112135898_112299216	112183349	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01081.hp2 others(11): Show HG00099.hp1 HG01074.hp2 HG01081.hp2 HG01169.hp1 HG01346.hp1 HG01361.hp1 HG01884.hp1 HG02300.hp1 HG02486.hp2 HG02809.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0001 a0004c0004 a0004c0005 others(1): Show a0002c0001 a0004c0004 a0004c0005 a0009c0012	a0002c0001t0001 a0004c0004t0001 a0004c0005t0001 others(1): Show a0002c0001t0001 a0004c0004t0001 a0004c0005t0001 a0009c0012t0001	a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0204 others(11): Show a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0204 a0004c0004t0001g0333 a0004c0004t0001g0334 a0004c0004t0001g0335 a0004c0004t0001g0345 a0004c0004t0001g0347 a0004c0004t0001g0348 a0004c0004t0001g0353 a0004c0004t0001g0354 a0004c0005t0001g0040 a0009c0012t0001g0150 a0009c0012t0001g0154	14	372	0.0376	19	c.252 others(38): Show c.2524-1110_2524-1092dupAAAAAAAAAAAAAAAAAAA	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	20/28			chr3	TogoVar
SLCO1B1_chr12_21126194_21244796	21152533	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 NA18962.hp2 others(2): Show HG02630.hp1 HG03516.hp2 NA18962.hp2 NA18973.hp1 NA18973.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0008	a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 a0007c0008t0006	a0001c0001t0002g0249 a0001c0003t0002g0230 a0001c0003t0002g0231 others(2): Show a0001c0001t0002g0249 a0001c0003t0002g0230 a0001c0003t0002g0231 a0002c0002t0001g0236 a0007c0008t0006g0247	5	318	0.0157	19	c.84+ others(36): Show c.84+10893_84+10894insTTTTTTTTTTTTTTTTTTT	SLCO1B1	ENSG00000134538.3	transcript	ENST00000256958.3	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20740787	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	296	0.0034	19	c.173 others(36): Show c.1733+419_1733+420insATATATATATATATATATA	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	12/14			chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	91917655	G G	GGGGAAGA others(12): Show GGGGAAGAGAAAACGGCTCA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18980.hp2 NA19007.hp1 NA18612.hp2 NA18980.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0151 a0001c0001t0004g0086 a0001c0001t0005g0152 a0001c0001t0002g0151 a0001c0001t0004g0086 a0001c0001t0005g0152	3	190	0.0158	19	c.646 others(36): Show c.646+1200_646+1218dupGAAGAGAAAACGGCTCAGG	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047198	T T	TAATATAT others(12): Show TAATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	190	0.0053	19	c.647 others(38): Show c.647-47682_647-47681insATATATAAATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047351	T T	TAATATAT others(12): Show TAATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	190	0.0053	19	c.647 others(38): Show c.647-47529_647-47528insATATATAAATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(12): Show GCCCCCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01258.hp2 HG02615.hp2 others(5): Show HG00741.hp1 HG01258.hp2 HG02615.hp2 HG02723.hp1 HG03225.hp1 NA18939.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0006 a0002c0002t0003	a0001c0001t0001g0039 a0001c0001t0002g0054 a0001c0001t0002g0065 others(4): Show a0001c0001t0001g0039 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0003g0094 a0001c0001t0003g0159 a0001c0006t0006g0220 a0002c0002t0003g0134	8	432	0.0185	19	c.127 others(36): Show c.1277-261_1277-260insCCCCCCCTTCCCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN11_chr17_35345305_35378621	35349342	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 NA18986.hp1 HG02451.hp1 NA18986.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0154 a0002c0001t0003g0017 a0002c0001t0003g0154	2	466	0.0043	19	c.30 others(30): Show c.3013_*3014insCTTTTTTTTTTTTTTTTTT	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		962		chr17	TogoVar
SLFN11_chr17_35345305_35378621	35349343	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03453.hp1 HG01891.hp2 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0053 a0002c0001t0003g0165 a0002c0001t0003g0053 a0002c0001t0003g0165	2	466	0.0043	19	c.30 others(30): Show c.3012_*3013insCTTTTTTTTTTTTTTTTTT	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		961		chr17	TogoVar
SLFN11_chr17_35345305_35378621	35349801	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01106.hp2 others(5): Show HG00621.hp1 HG01069.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 NA18965.hp2 NA18981.hp2 NA19076.hp1	a0002 a0003 a0014 others(1): Show a0002 a0003 a0014 a0015	a0002c0001 a0003c0005 a0014c0019 others(1): Show a0002c0001 a0003c0005 a0014c0019 a0015c0018	a0002c0001t0002 a0003c0005t0002 a0014c0019t0002 others(1): Show a0002c0001t0002 a0003c0005t0002 a0014c0019t0002 a0015c0018t0002	a0002c0001t0002g0037 a0002c0001t0002g0218 a0003c0005t0002g0066 others(4): Show a0002c0001t0002g0037 a0002c0001t0002g0218 a0003c0005t0002g0066 a0003c0005t0002g0222 a0003c0005t0002g0240 a0014c0019t0002g0233 a0015c0018t0002g0067	8	466	0.0172	19	c.25 others(30): Show c.2554_*2555insATTTTATTTTATTTTATTT	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		503		chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530523	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0048 a0003c0005t0048	a0003c0005t0048g0028 a0003c0005t0048g0028	1	360	0.0028	19	c.-60 others(38): Show c.-606+7049_-606+7050insCTTTCTTTCTTTCTTTCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12_chr17_35405922_35437500	35434428	A A	AGAGGAAG others(12): Show AGAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02071.hp1 HG03516.hp1 others(3): Show HG01109.hp1 HG02071.hp1 HG03516.hp1 NA18985.hp2 NA18989.hp2 NA19058.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0242 a0001c0001t0001g0249 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0242 a0001c0001t0001g0249 a0003c0003t0002g0007 a0003c0003t0002g0075	6	426	0.0141	19	c.-22 others(30): Show c.-2282_-2281insCTTCCTTCCTTCCTTCCTC	SLFN12	ENSG00000172123.13	transcript	ENST00000304905.10	protein_coding		1929		chr17	TogoVar
SLFN13_chr17_35430096_35453766	35434428	A A	AGAGGAAG others(12): Show AGAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02071.hp2 HG03516.hp2 others(3): Show HG01109.hp2 HG02071.hp2 HG03516.hp2 NA18985.hp1 NA19058.hp1 NA19059.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0002c0014 a0011c0012 a0002c0002 a0002c0014 a0011c0012	a0002c0002t0003 a0002c0014t0003 a0011c0012t0011 others(1): Show a0002c0002t0003 a0002c0014t0003 a0011c0012t0011 a0011c0012t0029	a0002c0002t0003g0003 a0002c0014t0003g0084 a0002c0014t0003g0169 others(2): Show a0002c0002t0003g0003 a0002c0014t0003g0084 a0002c0014t0003g0169 a0011c0012t0011g0012 a0011c0012t0029g0199	6	456	0.0132	19	c.61 others(30): Show c.6166_*6167insCTTCCTTCCTTCCTTCCTC	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding		667		chr17	TogoVar
SLFN13_chr17_35430096_35453766	35434453	A A	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	456	0.0022	19	c.61 others(30): Show c.6141_*6142insCCTTCCTTCCTTCCTTCCT	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding		642		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02738.hp1 HG00280.hp2 HG02738.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0008 a0007c0008t0008	a0007c0008t0008g0014 a0007c0008t0008g0014	2	428	0.0047	19	c.-11 others(30): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA18954.hp1 NA18990.hp1 others(2): Show HG02129.hp2 NA18954.hp1 NA18990.hp1 NA19000.hp2 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0018 a0002c0002t0003g0099 a0002c0002t0003g0004 a0002c0002t0003g0018 a0002c0002t0003g0099	5	428	0.0117	19	c.-11 others(30): Show c.-1107_-1106insCTTTCTTTTTTTTTTTTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLIT1_chr10_96993038_97190959	97002414	A A	AGCCCCAC others(12): Show AGCCCCACCTGACACAGCCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0087 a0001c0003t0015g0087	1	256	0.0039	19	c.415 others(34): Show c.4155-64_4155-46dupGGGCTGTGTCAGGTGGGGC	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	35/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20324350	T T	TTGTATTG others(12): Show TTGTATTGGTGAGGTGCTGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02165.hp2 others(13): Show HG00639.hp2 HG01243.hp2 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp1 NA18998.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0021	a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 others(12): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0030 a0001c0001t0054 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0029 a0001c0002t0070 a0001c0006t0042 a0001c0007t0065 a0001c0021t0017	a0001c0001t0005g0059 a0001c0001t0007g0168 a0001c0001t0007g0169 others(13): Show a0001c0001t0005g0059 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0012g0014 a0001c0001t0013g0165 a0001c0001t0014g0133 a0001c0001t0030g0225 a0001c0001t0054g0157 a0001c0002t0002g0125 a0001c0002t0010g0215 a0001c0002t0013g0171 a0001c0002t0029g0217 a0001c0002t0070g0170 a0001c0006t0042g0084 a0001c0007t0065g0197 a0001c0021t0017g0229	16	230	0.0696	19	c.395 others(38): Show c.395+55487_395+55488insATGTATTGGTGAGGTGCTG	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20511587	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02886.hp2 NA20300.hp2 HG01981.hp2 HG02886.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0022 a0001c0002t0053 a0001c0003t0010 a0001c0002t0022 a0001c0002t0053 a0001c0003t0010	a0001c0002t0022g0120 a0001c0002t0053g0160 a0001c0003t0010g0222 a0001c0002t0022g0120 a0001c0002t0053g0160 a0001c0003t0010g0222	3	230	0.0130	19	c.105 others(36): Show c.1058+466_1058+467insTTTTTTTTTTTTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518587	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0154 a0001c0003t0009g0154	1	230	0.0044	19	c.105 others(36): Show c.1059-794_1059-793insATATATATATATATATATT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518587	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	230	0.0044	19	c.105 others(36): Show c.1059-794_1059-793insATATATATATATATATTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518588	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp2 HG02300.hp2 others(2): Show HG01261.hp2 HG02055.hp2 HG02300.hp2 HG04228.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0013 a0001c0001t0020 a0001c0002t0010 others(2): Show a0001c0001t0013 a0001c0001t0020 a0001c0002t0010 a0001c0002t0038 a0001c0003t0001	a0001c0001t0013g0172 a0001c0001t0020g0131 a0001c0002t0010g0216 others(2): Show a0001c0001t0013g0172 a0001c0001t0020g0131 a0001c0002t0010g0216 a0001c0002t0038g0005 a0001c0003t0001g0098	5	230	0.0217	19	c.105 others(36): Show c.1059-794_1059-793insATATATATATATATATATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36			chr4	TogoVar
SLIT3_chr5_168656740_169306139	168798220	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA21309.hp1 NA18974.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0030 a0002c0002 a0002c0030	a0002c0002t0018 a0002c0030t0002 a0002c0002t0018 a0002c0030t0002	a0002c0002t0018g0105 a0002c0030t0002g0033 a0002c0002t0018g0105 a0002c0030t0002g0033	2	132	0.0152	19	c.936 others(36): Show c.936-2643_936-2642insAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	9/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168901362	T T	TCAAACAA others(12): Show TCAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0003 a0002c0049t0003	a0002c0049t0003g0127 a0002c0049t0003g0127	1	132	0.0076	19	c.414 others(38): Show c.414-18027_414-18026insTTTTGTTTTGTTTTGTTTG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168952528	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 NA19030.hp1 others(1): Show HG02559.hp1 HG03225.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0003 a0001c0013 a0002c0005 others(1): Show a0001c0003 a0001c0013 a0002c0005 a0011c0028	a0001c0003t0016 a0001c0013t0001 a0002c0005t0003 others(1): Show a0001c0003t0016 a0001c0013t0001 a0002c0005t0003 a0011c0028t0006	a0001c0003t0016g0074 a0001c0013t0001g0047 a0002c0005t0003g0128 others(1): Show a0001c0003t0016g0074 a0001c0013t0001g0047 a0002c0005t0003g0128 a0011c0028t0006g0014	4	132	0.0303	19	c.414 others(38): Show c.414-69211_414-69193dupTTTTTTTTTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG02976.hp2 HG01433.hp1 HG01433.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0008 a0002c0043 a0001c0015 a0002c0008 a0002c0043	a0001c0015t0017 a0002c0008t0002 a0002c0043t0028 a0001c0015t0017 a0002c0008t0002 a0002c0043t0028	a0001c0015t0017g0089 a0002c0008t0002g0017 a0002c0043t0028g0052 a0001c0015t0017g0089 a0002c0008t0002g0017 a0002c0043t0028g0052	3	132	0.0227	19	c.414 others(38): Show c.414-84120_414-84102dupAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079702	A A	AGAGGAGG others(12): Show AGAGGAGGAGGAGGGAAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 NA19030.hp2 HG02622.hp1 HG02965.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0019 a0002c0053 a0001c0003 a0002c0019 a0002c0053	a0001c0003t0017 a0002c0019t0001 a0002c0053t0003 a0001c0003t0017 a0002c0019t0001 a0002c0053t0003	a0001c0003t0017g0050 a0002c0019t0001g0009 a0002c0053t0003g0123 a0001c0003t0017g0050 a0002c0019t0001g0009 a0002c0053t0003g0123	3	132	0.0227	19	c.413 others(40): Show c.413+113758_413+113776dupCTCTTCCCTCCTCCTCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK3_chr3_165181720_165201384	165196887	C C	CTCTAGCA others(12): Show CTCTAGCACGTATCTAGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	414	0.0024	19	c.-13 others(30): Show c.-1330_-1329insTCACTAGATACGTGCTAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		504		chr3	TogoVar
SLITRK3_chr3_165181720_165201384	165196927	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02809.hp2 NA19000.hp1 HG00423.hp1 HG02809.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0002g0001 a0002c0002t0001g0008 a0001c0001t0001g0003 a0001c0001t0002g0001 a0002c0002t0001g0008	3	414	0.0073	19	c.-13 others(30): Show c.-1370_-1369insAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		544		chr3	TogoVar
SLK_chr10_103962140_104034233	103974655	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(85): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp1 HG06807.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18955.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0008 a0009	a0001c0001 a0001c0014 a0003c0003 others(4): Show a0001c0001 a0001c0014 a0003c0003 a0004c0005 a0007c0009 a0008c0013 a0009c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0029 a0001c0014t0001 a0003c0003t0003 a0004c0005t0005 a0007c0009t0001 a0008c0013t0001 a0009c0021t0003	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(79): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0353 a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0255 a0001c0001t0004g0303 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0339 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0006g0320 a0001c0001t0007g0115 a0001c0001t0008g0346 a0001c0001t0008g0349 a0001c0001t0008g0351 a0001c0001t0008g0352 a0001c0001t0014g0012 a0001c0001t0015g0249 a0001c0001t0019g0013 a0001c0001t0021g0322 a0001c0001t0025g0256 a0001c0001t0029g0222 a0001c0014t0001g0230 a0003c0003t0003g0003 a0003c0003t0003g0119 a0003c0003t0003g0174 a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0193 a0003c0003t0003g0194 a0003c0003t0003g0195 a0004c0005t0005g0215 a0007c0009t0001g0324 a0008c0013t0001g0252 a0009c0021t0003g0192	88	376	0.2340	19	c.150 others(36): Show c.150+6773_150+6774insTTTTTTTTTTTTTTTTTTT	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLMAP_chr3_57751309_57935003	57869630	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	310	0.0032	19	c.123 others(38): Show c.1238-2006_1238-2005insATATATATATATATATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24			chr3	TogoVar
SLMAP_chr3_57751309_57935003	57869660	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	310	0.0032	19	c.123 others(38): Show c.1238-1976_1238-1975insTATATATATATATATATAT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24			chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(12): Show CTTTTTTTTCTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp2 HG02451.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0179 a0001c0001t0011g0191 a0001c0001t0011g0179 a0001c0001t0011g0191	2	310	0.0065	19	c.150 others(38): Show c.1502-1576_1502-1575insCTTTTCTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0280 a0001c0002t0029g0280	1	310	0.0032	19	c.150 others(38): Show c.1502-1570_1502-1552dupTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(12): Show AGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02965.hp2 HG02976.hp2 others(3): Show HG01081.hp1 HG02965.hp2 HG02976.hp2 HG03453.hp2 HG03688.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 others(2): Show a0001c0001t0001g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0038	6	398	0.0151	19	c.-37 others(30): Show c.-3746_-3745insATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03540.hp1 NA18986.hp2 others(1): Show HG02040.hp2 HG03540.hp1 NA18986.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0241 a0001c0001t0002g0278 a0001c0001t0002g0309 others(1): Show a0001c0001t0001g0241 a0001c0001t0002g0278 a0001c0001t0002g0309 a0001c0001t0002g0359	4	386	0.0104	19	c.299 others(38): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58922377	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02886.hp1 HG03195.hp2 HG02004.hp2 HG02886.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0248 a0001c0002t0001g0078 a0001c0002t0001g0082 a0001c0001t0001g0248 a0001c0002t0001g0078 a0001c0002t0001g0082	3	386	0.0078	19	c.251 others(36): Show c.251-5397_251-5379dupTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	2/20			chr15	TogoVar
SLX1B_chr16_29449533_29463219	29450761	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	174	0.0058	19	c.-39 others(30): Show c.-3982_-3981insTATATATATATATATATAT	SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding		3771		chr16	TogoVar
SMAD2_chr18_47803957_47935659	47830576	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0253 a0001c0002t0253	a0001c0002t0253g0015 a0001c0002t0253g0015	1	310	0.0032	19	c.11 others(32): Show c.11250_*11251insTTTTTTTTTTTTTTTTTTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	11250		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850626	A A	ATATATTA others(12): Show ATATATTATGTATAATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp1 HG01993.hp1 HG01261.hp2 HG01496.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0202 a0001c0001t0203 a0001c0001t0242 a0001c0001t0202 a0001c0001t0203 a0001c0001t0242	a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0242g0160 a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0242g0160	3	310	0.0097	19	c.784 others(34): Show c.784+647_784+648insATATATTATACATAATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850669	A A	ATATATTA others(12): Show ATATATTATGTATAATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0227 a0001c0001t0227	a0001c0001t0227g0166 a0001c0001t0227g0166	1	310	0.0032	19	c.784 others(34): Show c.784+604_784+605insATATATTATACATAATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0216 a0001c0001t0015g0216	1	310	0.0032	19	c.237 others(38): Show c.237-11496_237-11478dupAAAAAAAAAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67113095	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0021 a0001c0001t0017g0021	1	310	0.0032	19	c.206 others(38): Show c.206+46735_206+46736insATATATATATATATATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8			chr15	TogoVar

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