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
SHANK1_chr19_50654255_50724802	50713405	C C	CTGTTTTC others(33): Show CTGTTTTCAGGGTGTGTGTGGAGGGGCTCTATCTGGGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	316	0.0032	40	c.792 others(55): Show c.792+353_792+392dupTGCCCCCAGATAGAGCCCCTCCACACACAC CCTGAAAACA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	6/23			chr19	TogoVar
SHC3_chr9_89000771_89183818	89182522	A A	AAAAATAA others(33): Show AAAAATAAAATAACATAAAATAACATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0002 a0001c0002t0006g0002	1	188	0.0053	40	c.-40 others(51): Show c.-4063_-4062insATTTTATTTTATTTTATGTTATTTTATGTTATTT TATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	384	0.0026	40	c.657 others(59): Show c.657-17030_657-17029insTATATACACACACACACACATATATA TATATATACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(33): Show GTGTGTGTGTATATATATATATATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	384	0.0026	40	c.657 others(59): Show c.657-17030_657-17029insTATACACACACACACACATATATATA TATATACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTATATATATATATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	384	0.0026	40	c.657 others(59): Show c.657-17030_657-17029insTATACACACACACACACATATATATA TATACACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	302	0.0033	40	c.118 others(59): Show c.1182+4906_1182+4945dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924786	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	302	0.0033	40	c.118 others(59): Show c.1182+4860_1182+4861insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA5_chr3_48462876_48509174	48481441	A A	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02027.hp2 others(8): Show HG00609.hp1 HG01884.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02630.hp1 HG03471.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0038 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0004g0014	11	290	0.0379	40	c.234 others(57): Show c.234-2185_234-2184insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13140138	T T	TCCCTCCC others(33): Show TCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0046 a0001c0001t0059g0046	1	214	0.0047	40	c.692 others(59): Show c.692-63217_692-63216insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02965.hp1 HG03491.hp2 others(8): Show HG00423.hp2 HG02965.hp1 HG03491.hp2 HG03492.hp2 NA18522.hp2 NA18951.hp1 NA18955.hp1 NA18981.hp2 NA19057.hp1 NA19080.hp2 NA19086.hp2	a0001 a0001	a0001c0041 a0001c0098 a0001c0152 others(8): Show a0001c0041 a0001c0098 a0001c0152 a0001c0165 a0001c0180 a0001c0279 a0001c0315 a0001c0318 a0001c0324 a0001c0333 a0001c0334	a0001c0041t0003 a0001c0098t0008 a0001c0152t0001 others(8): Show a0001c0041t0003 a0001c0098t0008 a0001c0152t0001 a0001c0165t0021 a0001c0180t0032 a0001c0279t0001 a0001c0315t0001 a0001c0318t0008 a0001c0324t0001 a0001c0333t0025 a0001c0334t0025	a0001c0041t0003g0126 a0001c0098t0008g0092 a0001c0152t0001g0227 others(8): Show a0001c0041t0003g0126 a0001c0098t0008g0092 a0001c0152t0001g0227 a0001c0165t0021g0160 a0001c0180t0032g0125 a0001c0279t0001g0287 a0001c0315t0001g0349 a0001c0318t0008g0079 a0001c0324t0001g0146 a0001c0333t0025g0054 a0001c0334t0025g0055	11	380	0.0290	40	c.600 others(59): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02486.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0065 a0001c0004t0010g0236 a0001c0004t0010g0065 a0001c0004t0010g0236	2	380	0.0053	40	c.599 others(55): Show c.599+530_599+531insAAGGAAGGAAGGAAGGAAGGAAGGCAGGCA GGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0005 a0001c0048t0005	a0001c0048t0005g0176 a0001c0048t0005g0176	1	380	0.0026	40	c.599 others(55): Show c.599+530_599+531insAAGGAAGGAAGGAAGGAAGGAAGGAAGGCA GGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(33): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG01069.hp1 others(33): Show HG00609.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02165.hp2 HG02602.hp2 HG03139.hp1 HG03491.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp1 NA18941.hp1 NA18945.hp2 NA18951.hp2 NA18980.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA19009.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0016 a0001c0021 a0001c0057 others(31): Show a0001c0016 a0001c0021 a0001c0057 a0001c0065 a0001c0068 a0001c0080 a0001c0099 a0001c0118 a0001c0125 a0001c0126 a0001c0133 a0001c0143 a0001c0150 a0001c0156 a0001c0158 a0001c0169 a0001c0183 a0001c0194 a0001c0195 a0001c0199 a0001c0200 a0001c0203 a0001c0204 a0001c0239 a0001c0257 a0001c0258 a0001c0273 a0001c0283 a0001c0294 a0001c0301 a0001c0320 a0001c0329 a0001c0335 a0001c0347	a0001c0016t0001 a0001c0021t0002 a0001c0057t0002 others(31): Show a0001c0016t0001 a0001c0021t0002 a0001c0057t0002 a0001c0065t0065 a0001c0068t0001 a0001c0080t0002 a0001c0099t0008 a0001c0118t0031 a0001c0125t0012 a0001c0126t0002 a0001c0133t0001 a0001c0143t0003 a0001c0150t0003 a0001c0156t0001 a0001c0158t0096 a0001c0169t0002 a0001c0183t0089 a0001c0194t0001 a0001c0195t0001 a0001c0199t0014 a0001c0200t0014 a0001c0203t0001 a0001c0204t0024 a0001c0239t0026 a0001c0257t0001 a0001c0258t0003 a0001c0273t0004 a0001c0283t0002 a0001c0294t0003 a0001c0301t0006 a0001c0320t0001 a0001c0329t0001 a0001c0335t0001 a0001c0347t0003	a0001c0016t0001g0081 a0001c0016t0001g0082 a0001c0021t0002g0009 others(32): Show a0001c0016t0001g0081 a0001c0016t0001g0082 a0001c0021t0002g0009 a0001c0057t0002g0228 a0001c0065t0065g0256 a0001c0068t0001g0350 a0001c0080t0002g0195 a0001c0099t0008g0107 a0001c0118t0031g0339 a0001c0125t0012g0036 a0001c0126t0002g0151 a0001c0133t0001g0253 a0001c0143t0003g0112 a0001c0150t0003g0172 a0001c0156t0001g0272 a0001c0158t0096g0142 a0001c0169t0002g0080 a0001c0183t0089g0068 a0001c0194t0001g0197 a0001c0195t0001g0198 a0001c0199t0014g0021 a0001c0200t0014g0026 a0001c0203t0001g0196 a0001c0204t0024g0029 a0001c0239t0026g0042 a0001c0257t0001g0069 a0001c0258t0003g0194 a0001c0273t0004g0364 a0001c0283t0002g0295 a0001c0294t0003g0100 a0001c0301t0006g0366 a0001c0320t0001g0351 a0001c0329t0001g0319 a0001c0335t0001g0193 a0001c0347t0003g0199	36	380	0.0947	40	c.-32 others(57): Show c.-32-1676_-32-1637dupGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302843	G G	GGTGAGGA others(33): Show GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0233 a0001c0233	a0001c0233t0004 a0001c0233t0004	a0001c0233t0004g0354 a0001c0233t0004g0354	1	380	0.0026	40	c.-32 others(57): Show c.-32-1867_-32-1866insTGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCAC	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHOX_chrX_625791_656584	648889	C C	CTCCTTCC others(33): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0006 a0001c0001t0173g0006	1	220	0.0046	40	c.42 others(51): Show c.4274_*4275insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	4275	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0005	1	222	0.0045	40	c.118 others(61): Show c.1182-14722_1182-14721insAAAAAAAAAAAAAAAATATATATA TATATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(33): Show AATAAATAAATAAATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	218	0.0046	40	c.324 others(59): Show c.324-63928_324-63927insAATAAATAAATAAATATATATATATA TATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(33): Show AATAAATAAATAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	218	0.0046	40	c.324 others(59): Show c.324-63928_324-63927insAATAAATAAATATATATATATATATA TATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18967.hp1 NA19002.hp2 others(1): Show HG03195.hp2 NA18967.hp1 NA19002.hp2 NA19010.hp2	a0002 a0003 a0009 others(1): Show a0002 a0003 a0009 a0020	a0002c0002 a0003c0003 a0009c0021 others(1): Show a0002c0002 a0003c0003 a0009c0021 a0020c0029	a0002c0002t0001 a0003c0003t0001 a0009c0021t0009 others(1): Show a0002c0002t0001 a0003c0003t0001 a0009c0021t0009 a0020c0029t0003	a0002c0002t0001g0170 a0003c0003t0001g0129 a0009c0021t0009g0132 others(1): Show a0002c0002t0001g0170 a0003c0003t0001g0129 a0009c0021t0009g0132 a0020c0029t0003g0190	4	218	0.0184	40	c.324 others(59): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTATGTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	C C	CTCCTTCC others(33): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19062.hp1 HG01069.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0092 a0001c0001t0001g0102	2	175	0.0114	40	c.295 others(59): Show c.2957+9336_2957+9337insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGA	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50618278	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	175	0.0057	40	c.295 others(59): Show c.2957+9296_2957+9335dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SIAH3_chr13_45772242_45856753	45826361	A A	ATGGATGG others(33): Show ATGGATGGATGGTTGGGTAGGTGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00673.hp2 others(54): Show HG00280.hp2 HG00597.hp1 HG00673.hp2 HG00738.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01891.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG06807.hp2 NA18939.hp2 NA18942.hp2 NA18959.hp1 NA18966.hp1 NA18972.hp1 NA18973.hp1 NA18984.hp1 NA18985.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0053 a0001c0001t0085 a0001c0001t0090 a0001c0001t0091 a0001c0001t0098 a0001c0001t0105	a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0141 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0002g0140 a0001c0001t0003g0114 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0004g0131 a0001c0001t0005g0110 a0001c0001t0006g0026 a0001c0001t0006g0108 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0124 a0001c0001t0008g0123 a0001c0001t0009g0033 a0001c0001t0009g0222 a0001c0001t0009g0231 a0001c0001t0010g0137 a0001c0001t0011g0142 a0001c0001t0012g0032 a0001c0001t0012g0119 a0001c0001t0013g0007 a0001c0001t0013g0012 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0014g0133 a0001c0001t0014g0134 a0001c0001t0015g0148 a0001c0001t0019g0014 a0001c0001t0019g0017 a0001c0001t0021g0200 a0001c0001t0023g0120 a0001c0001t0024g0230 a0001c0001t0025g0011 a0001c0001t0025g0018 a0001c0001t0027g0235 a0001c0001t0038g0082 a0001c0001t0038g0121 a0001c0001t0040g0006 a0001c0001t0041g0010 a0001c0001t0042g0008 a0001c0001t0043g0013 a0001c0001t0044g0009 a0001c0001t0045g0019 a0001c0001t0049g0210 a0001c0001t0053g0225 a0001c0001t0085g0103 a0001c0001t0090g0344 a0001c0001t0091g0343 a0001c0001t0098g0229 a0001c0001t0105g0109	57	364	0.1566	40	c.135 others(59): Show c.135+25133_135+25134insACCATCCATCCATCCATCCACCTACC CAACCATCCATCCA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(33): Show CGGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	242	0.0041	40	c.-15 others(59): Show c.-153-1244_-153-1243insCGACTGCATTCAGACATGGTCAGAGC TGGGCACCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(33): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01256.hp1 others(19): Show HG00735.hp1 HG00738.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18969.hp1 NA18971.hp2 NA18978.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0178 a0001c0001t0001g0227 a0004c0005t0001g0042	22	242	0.0909	40	c.-15 others(59): Show c.-153-1244_-153-1243insCCGACTGCATTCAGACATGGTCAGAG CTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411271	G G	GGGGGGGT others(33): Show GGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	242	0.0041	40	c.-15 others(59): Show c.-153-1245_-153-1244insGCCGACTGCATTCAGACATGGTCAGA GCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412020	C C	CCAGCTCT others(33): Show CCAGCTCTGAACATGTCTGGATACAGTCGGGGGGGGGTGCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG02622.hp1 HG00741.hp1 HG01358.hp1 HG02622.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0151 a0001c0001t0001g0201 a0008c0010t0001g0053 a0001c0001t0001g0151 a0001c0001t0001g0201 a0008c0010t0001g0053	3	242	0.0124	40	c.-15 others(59): Show c.-153-1994_-153-1993insAGCACCCCCCCCCGACTGTATCCAGA CATGTTCAGAGCTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412282	C C	CGGCGGGG others(33): Show CGGCGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	242	0.0041	40	c.-15 others(59): Show c.-153-2256_-153-2255insCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTTTCT others(33): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01516.hp1 others(4): Show HG00558.hp2 HG00738.hp2 HG01516.hp1 HG01934.hp2 HG02004.hp1 HG03017.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0050	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0030 a0001c0001t0012g0032 a0001c0001t0050g0185	7	198	0.0354	40	c.316 others(57): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0321 a0002c0003t0009g0321	1	366	0.0027	40	c.30 others(51): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(33): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG02129.hp1 others(2): Show HG01074.hp2 HG01243.hp1 HG02129.hp1 NA19030.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0027 a0001c0002t0005 a0001c0001t0004 a0001c0001t0027 a0001c0002t0005	a0001c0001t0004g0046 a0001c0001t0004g0124 a0001c0001t0004g0138 others(2): Show a0001c0001t0004g0046 a0001c0001t0004g0124 a0001c0001t0004g0138 a0001c0001t0027g0136 a0001c0002t0005g0028	5	366	0.0137	40	c.616 others(57): Show c.616+9352_616+9391dupTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938373	G G	GGAGGAGA others(33): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02647.hp2 HG02148.hp1 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0008 a0002c0003t0001 a0002c0003t0008	a0002c0003t0001g0342 a0002c0003t0008g0353 a0002c0003t0001g0342 a0002c0003t0008g0353	2	366	0.0055	40	c.455 others(59): Show c.455-10994_455-10993insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938378	G G	GGAGGAGA others(33): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0361 a0004c0006t0008g0361	1	366	0.0027	40	c.455 others(59): Show c.455-10999_455-10998insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18948.hp2 HG02129.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0121 a0001c0001t0004g0046 a0001c0001t0004g0121	2	366	0.0055	40	c.274 others(59): Show c.274-56838_274-56837insACACACATACACACACACACACACAC ACACACACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	366	0.0027	40	c.274 others(59): Show c.274-56838_274-56837insACATACACACACACACACACACACAC ACACACACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117016394	G G	GGGAGGGA others(33): Show GGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	366	0.0027	40	c.274 others(59): Show c.274-59331_274-59330insTTCCTTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0019 a0003c0005t0005g0019	1	366	0.0027	40	c.274 others(59): Show c.274-63183_274-63182insGTGTATATATATATATATATATATAT ATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02615.hp1 HG02602.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0015 a0001c0001t0004 a0001c0002t0015	a0001c0001t0004g0128 a0001c0002t0015g0033 a0001c0001t0004g0128 a0001c0002t0015g0033	2	366	0.0055	40	c.274 others(59): Show c.274-63183_274-63182insGTATATATATATATATATATATATAT ATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	366	0.0027	40	c.274 others(59): Show c.274-66558_274-66557insATATATATATATATATATATATATAT ATATATATATTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19063.hp2 HG01496.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0052 a0001c0002t0001g0038 a0001c0001t0001g0052 a0001c0002t0001g0038	2	200	0.0100	40	c.-10 others(59): Show c.-10-27596_-10-27595insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	349	0.0029	40	c.-23 others(51): Show c.-2399_-2398insATATATATATATATATATATATTTTTTTTTTTTT TTTTTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SIPA1L2_chr1_232392965_232635133	232584002	A A	AACGTATT others(33): Show AACGTATTAACTCTTCCCCGCTCTCTGTATAAAAACTGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0287 a0001c0005t0003g0287	1	292	0.0034	40	c.-31 others(59): Show c.-318-9820_-318-9781dupGGCCAGTTTTTATACAGAGAGCGGGG AAGAGTTAATACGT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	1/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37968063	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp2 HG02080.hp2 others(16): Show HG00558.hp2 HG01981.hp2 HG02080.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02896.hp2 HG02970.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 NA18946.hp1 NA18946.hp2 NA18954.hp2 NA18973.hp1 NA19007.hp2 NA19085.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0020 a0004c0017 a0005c0011 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0003t0004 a0001c0004t0003 a0002c0002t0001 a0002c0002t0003 a0002c0020t0001 a0004c0017t0002 a0005c0011t0006 a0009c0013t0001	a0001c0001t0001g0097 a0001c0001t0002g0099 a0001c0001t0002g0109 others(16): Show a0001c0001t0001g0097 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0004g0105 a0001c0001t0004g0127 a0001c0001t0012g0103 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0004t0003g0100 a0002c0002t0001g0083 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0020t0001g0133 a0004c0017t0002g0118 a0005c0011t0006g0142 a0009c0013t0001g0128	19	164	0.1159	40	c.-37 others(61): Show c.-379+60730_-379+60731insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38196376	G G	GGAGCATG others(33): Show GGAGCATGGAGGTCAAGGGCGGAGCAAGGAGGTCAAGGGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02970.hp1 others(2): Show HG02109.hp2 HG02257.hp2 HG02970.hp1 HG03041.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0012 a0001c0004 a0003c0012	a0001c0004t0003 a0001c0004t0013 a0003c0012t0003 a0001c0004t0003 a0001c0004t0013 a0003c0012t0003	a0001c0004t0003g0070 a0001c0004t0003g0158 a0001c0004t0013g0089 others(2): Show a0001c0004t0003g0070 a0001c0004t0003g0158 a0001c0004t0013g0089 a0003c0012t0003g0160 a0003c0012t0003g0161	5	164	0.0305	40	c.484 others(59): Show c.4841-1994_4841-1993insGGAGCAAGGAGGTCAAGGGCAGAGCA TGGAGGTCAAGGGC	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38196396	A A	AGAGCAAG others(33): Show AGAGCAAGGAGGTCAAGGGCAGAGCATGGAGGTCAAGGGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(74): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp1 NA18906.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp1 NA18979.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19068.hp1 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0012 a0014 a0015 a0017 a0019 a0024 a0025	a0001c0001 a0001c0003 a0001c0004 others(18): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0030 a0002c0002 a0002c0020 a0003c0005 a0005c0039 a0006c0010 a0006c0035 a0008c0009 a0009c0013 a0010c0018 a0012c0040 a0014c0019 a0015c0034 a0017c0023 a0019c0028 a0024c0036 a0025c0037	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0001t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0004t0003 a0001c0006t0009 a0001c0006t0010 a0001c0030t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0015 a0002c0002t0020 a0002c0020t0001 a0003c0005t0003 a0003c0005t0011 a0005c0039t0001 a0006c0010t0004 a0006c0035t0001 a0008c0009t0001 a0008c0009t0007 a0009c0013t0001 a0010c0018t0004 a0010c0018t0016 a0012c0040t0004 a0014c0019t0003 a0015c0034t0001 a0017c0023t0002 a0019c0028t0001 a0024c0036t0004 a0025c0037t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 others(74): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0004g0127 a0001c0001t0012g0103 a0001c0001t0021g0045 a0001c0001t0025g0095 a0001c0003t0001g0092 a0001c0003t0001g0144 a0001c0003t0001g0151 a0001c0003t0004g0026 a0001c0003t0004g0049 a0001c0003t0004g0091 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0003t0004g0124 a0001c0003t0007g0043 a0001c0003t0007g0068 a0001c0003t0007g0120 a0001c0003t0007g0148 a0001c0003t0007g0153 a0001c0004t0003g0032 a0001c0004t0003g0033 a0001c0004t0003g0100 a0001c0006t0009g0140 a0001c0006t0009g0141 a0001c0006t0010g0084 a0001c0006t0010g0085 a0001c0030t0001g0080 a0002c0002t0001g0014 a0002c0002t0001g0059 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0002g0051 a0002c0002t0003g0017 a0002c0002t0003g0025 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0053 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0106 a0002c0002t0003g0116 a0002c0002t0003g0147 a0002c0002t0015g0117 a0002c0002t0020g0038 a0002c0020t0001g0133 a0003c0005t0003g0110 a0003c0005t0003g0138 a0003c0005t0011g0029 a0003c0005t0011g0163 a0005c0039t0001g0123 a0006c0010t0004g0012 a0006c0010t0004g0013 a0006c0010t0004g0054 a0006c0035t0001g0016 a0008c0009t0001g0011 a0008c0009t0007g0020 a0008c0009t0007g0034 a0009c0013t0001g0050 a0009c0013t0001g0128 a0010c0018t0004g0018 a0010c0018t0016g0154 a0012c0040t0004g0040 a0014c0019t0003g0146 a0015c0034t0001g0081 a0017c0023t0002g0019 a0019c0028t0001g0041 a0024c0036t0004g0057 a0025c0037t0001g0129	77	164	0.4695	40	c.484 others(59): Show c.4841-1954_4841-1953insGGAGCAAGGAGGTCAAGGGCAGAGCA TGGAGGTCAAGGGC	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPB2_chr20_1469578_1496420	1482526	T T	TCTTCCTT others(33): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0064 a0001c0001t0008g0064	1	372	0.0027	40	c.86- others(55): Show c.86-2462_86-2461insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	SIRPB2	ENSG00000196209.13	transcript	ENST00000359801.8	protein_coding	1/4			chr20	TogoVar
SIRPB2_chr20_1469578_1496420	1482534	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0063 a0004c0004t0004g0063	1	372	0.0027	40	c.86- others(55): Show c.86-2470_86-2469insAAAGGAAGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	SIRPB2	ENSG00000196209.13	transcript	ENST00000359801.8	protein_coding	1/4			chr20	TogoVar
SIRT3_chr11_210030_241342	234398	A A	AAGGATTT others(33): Show AAGGATTTTCCATTGCATGGCCGCTTTAGTCCAGTGGCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	414	0.0024	40	c.282 others(55): Show c.282-865_282-864insAGAGCCACTGGACTAAAGCGGCCATGCAAT GGAAAATCCT	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	1/6			chr11	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	40	c.21 others(51): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18974.hp2 NA19090.hp1 HG02965.hp2 NA18974.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0135 a0001c0001t0001g0159 a0001c0001t0007g0306 a0001c0001t0001g0135 a0001c0001t0001g0159 a0001c0001t0007g0306	3	360	0.0083	40	c.47 others(51): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(33): Show TACATACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	360	0.0028	40	c.47 others(51): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar

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