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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Select column to sort.

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Results per page.

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
SGSM2_chr17_2332501_2386054	2372274	GGCTGTGG others(20): Show GGCTGTGGCGGGCTGGGGGCGGGCGGCC	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0001 a0010c0033t0001	a0010c0033t0001g0202 a0010c0033t0001g0202	1	422	0.0024	-27	c.164 others(42): Show c.1642+21_1643-42delGCTGTGGCGGGCTGGGGGCGGGCGGCC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	14/23			chr17	TogoVar
SH2D4B_chr10_80532902_80651560	80572959	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0204 a0005c0005t0006g0204	1	322	0.0031	-27	c.495 others(44): Show c.495+1382_495+1408delATATATATATATATATATATATATATA	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7			chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572960	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0023 a0009c0009t0001g0023	1	322	0.0031	-27	c.495 others(44): Show c.495+1384_495+1410delATATATATATATATATATATATATATT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572962	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG02145.hp1 others(8): Show HG00639.hp2 HG01074.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02683.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG04184.hp1	a0002 a0007 a0009 a0002 a0007 a0009	a0002c0007 a0007c0020 a0009c0009 a0002c0007 a0007c0020 a0009c0009	a0002c0007t0001 a0002c0007t0002 a0002c0007t0010 others(4): Show a0002c0007t0001 a0002c0007t0002 a0002c0007t0010 a0002c0007t0020 a0007c0020t0001 a0009c0009t0001 a0009c0009t0027	a0002c0007t0001g0001 a0002c0007t0001g0022 a0002c0007t0002g0012 others(7): Show a0002c0007t0001g0001 a0002c0007t0001g0022 a0002c0007t0002g0012 a0002c0007t0002g0013 a0002c0007t0002g0033 a0002c0007t0010g0005 a0002c0007t0020g0034 a0007c0020t0001g0010 a0009c0009t0001g0014 a0009c0009t0027g0024	11	322	0.0342	-27	c.495 others(44): Show c.495+1386_495+1412delATATATATATATATATATATATATTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572964	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0015 a0001c0010t0001g0015	1	322	0.0031	-27	c.495 others(44): Show c.495+1388_495+1414delATATATATATATATATATATATTTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BGR_chr21_39446970_39520504	39510435	CACACACA others(20): Show CACACACACACACACACACACTGTAGCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02055.hp1 HG02145.hp2 others(6): Show HG01168.hp2 HG02055.hp1 HG02145.hp2 HG02615.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0003 a0001c0001t0003g0022 a0001c0001t0003g0023 others(5): Show a0001c0001t0003g0003 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0119 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0004g0245	9	302	0.0298	-27	c.436 others(44): Show c.436-1226_436-1200delACTGTAGCTACACACACACACACACAC	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BGR_chr21_39446970_39520504	39510454	ACTGTAGC others(20): Show ACTGTAGCTACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	302	0.0033	-27	c.436 others(44): Show c.436-1224_436-1198delTGTAGCTACACACACACACACACACCC	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP5L_chr1_248805446_248830915	248829718	CCCCTCTC others(20): Show CCCCTCTCCCCTCTCCCCTCTCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	412	0.0024	-27	c.-43 others(38): Show c.-4342_-4316delAGAGGGGAGAGGGGAGAGGGGAGAGGG	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding		3804		chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17643575	AGTCATTG others(20): Show AGTCATTGGTTCTGTTTATGTGTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	1	260	0.0039	-27	c.45+ others(44): Show c.45+64310_45+64336delTTTTTTGTCATTGGTTCTGTTTATGTG	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL3_chr15_83442341_83623743	83559003	TCCTACAG others(20): Show TCCTACAGCACTTACCATGTGTTTTACA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	324	0.0031	-27	c.46- others(40): Show c.46-248_46-222delCTACAGCACTTACCATGTGTTTTACAC	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3KBP1_chrX_19528977_19892600	19774655	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19005.hp1 NA18957.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	204	0.0098	-27	c.163 others(46): Show c.163-28241_163-28215delCTTTCTTTCTTTCTTTCTTTCTTTCT T	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172344960	AAGGAAGG others(20): Show AAGGAAGGAGGGAGAGAAAGAAAGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0037 a0005c0013t0037	a0005c0013t0037g0021 a0005c0013t0037g0021	1	280	0.0036	-27	c.118 others(46): Show c.1188+1149_1188+1175delCCTTCTTTCTTTCTCTCCCTCCTTCC T	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	12/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439249	AAGAAAAA others(20): Show AAGAAAAAAAAAAAACAAAAACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp2 HG03654.hp1 others(3): Show HG02280.hp2 HG03486.hp2 HG03654.hp1 HG03688.hp2 NA18747.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0062 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0062 a0001c0003t0005 a0001c0005t0081	a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0008g0122 others(3): Show a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0008g0122 a0001c0001t0062g0166 a0001c0003t0005g0020 a0001c0005t0081g0216	6	280	0.0214	-27	c.75+ others(44): Show c.75+15002_75+15028delGTTTTTGTTTTTGTTTTTTTTTTTTCT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064687	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	272	0.0037	-27	c.19 others(38): Show c.1987_*2013delAAGAAAGAAAGAAAGAAAGAAAGAAAG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1396		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064714	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG02258.hp1 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0076 a0005c0004t0001g0150 a0001c0001t0001g0076 a0005c0004t0001g0150	2	272	0.0074	-27	c.20 others(38): Show c.2014_*2040delAAAGAAAGAAAGAAAGGAAGGAAGGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1423		chr5	TogoVar
SH3TC1_chr4_8194290_8246103	8234144	TCATCCAT others(20): Show TCATCCATCCATCCATCCTTCCATCATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(91): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03130.hp1 HG03139.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04115.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18985.hp2 NA18998.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(12): Show a0001 a0002 a0007 a0012 a0018 a0019 a0020 a0026 a0027 a0028 a0030 a0033 a0035 a0041 a0043	a0001c0008 a0001c0009 a0001c0038 others(21): Show a0001c0008 a0001c0009 a0001c0038 a0002c0003 a0002c0005 a0002c0012 a0002c0014 a0002c0039 a0002c0050 a0002c0074 a0002c0080 a0007c0032 a0012c0030 a0018c0043 a0019c0069 a0020c0068 a0026c0049 a0027c0059 a0028c0079 a0030c0047 a0033c0077 a0035c0081 a0041c0042 a0043c0040	a0001c0008t0001 a0001c0008t0002 a0001c0009t0002 others(26): Show a0001c0008t0001 a0001c0008t0002 a0001c0009t0002 a0001c0009t0005 a0001c0038t0003 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 a0002c0012t0002 a0002c0014t0002 a0002c0039t0002 a0002c0050t0002 a0002c0074t0002 a0002c0080t0001 a0007c0032t0001 a0007c0032t0002 a0012c0030t0002 a0018c0043t0002 a0019c0069t0001 a0020c0068t0001 a0026c0049t0002 a0027c0059t0006 a0028c0079t0001 a0030c0047t0002 a0033c0077t0002 a0035c0081t0002 a0041c0042t0002 a0043c0040t0002	a0001c0008t0001g0112 a0001c0008t0001g0201 a0001c0008t0002g0094 others(90): Show a0001c0008t0001g0112 a0001c0008t0001g0201 a0001c0008t0002g0094 a0001c0008t0002g0095 a0001c0008t0002g0115 a0001c0008t0002g0116 a0001c0008t0002g0119 a0001c0009t0002g0111 a0001c0009t0002g0144 a0001c0009t0002g0147 a0001c0009t0002g0148 a0001c0009t0002g0274 a0001c0009t0005g0146 a0001c0038t0003g0357 a0001c0038t0003g0359 a0002c0003t0001g0052 a0002c0003t0001g0066 a0002c0003t0001g0130 a0002c0003t0001g0151 a0002c0003t0001g0241 a0002c0003t0001g0248 a0002c0003t0001g0256 a0002c0003t0001g0263 a0002c0003t0002g0009 a0002c0003t0002g0040 a0002c0003t0002g0046 a0002c0003t0002g0062 a0002c0003t0002g0077 a0002c0003t0002g0140 a0002c0003t0002g0152 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0002g0261 a0002c0003t0002g0262 a0002c0003t0002g0269 a0002c0003t0002g0280 a0002c0003t0002g0282 a0002c0003t0002g0284 a0002c0003t0002g0285 a0002c0003t0002g0289 a0002c0003t0002g0292 a0002c0003t0002g0299 a0002c0003t0002g0302 a0002c0003t0002g0303 a0002c0003t0002g0308 a0002c0003t0002g0328 a0002c0003t0002g0352 a0002c0005t0001g0166 a0002c0005t0001g0170 a0002c0005t0001g0205 a0002c0005t0002g0026 a0002c0005t0002g0027 a0002c0005t0002g0158 a0002c0005t0002g0160 a0002c0005t0002g0163 a0002c0005t0002g0172 a0002c0005t0002g0177 a0002c0005t0002g0182 a0002c0005t0002g0185 a0002c0005t0002g0189 a0002c0005t0002g0190 a0002c0005t0002g0194 a0002c0005t0002g0208 a0002c0005t0002g0209 a0002c0005t0002g0210 a0002c0005t0002g0216 a0002c0005t0002g0218 a0002c0005t0002g0362 a0002c0012t0002g0073 a0002c0012t0002g0315 a0002c0012t0002g0321 a0002c0014t0002g0207 a0002c0014t0002g0226 a0002c0014t0002g0332 a0002c0039t0002g0187 a0002c0039t0002g0188 a0002c0050t0002g0233 a0002c0074t0002g0211 a0002c0080t0001g0363 a0007c0032t0001g0013 a0007c0032t0002g0014 a0012c0030t0002g0005 a0018c0043t0002g0142 a0019c0069t0001g0223 a0020c0068t0001g0032 a0026c0049t0002g0255 a0027c0059t0006g0260 a0028c0079t0001g0215 a0030c0047t0002g0281 a0033c0077t0002g0325 a0035c0081t0002g0186 a0041c0042t0002g0029 a0043c0040t0002g0326	94	374	0.2513	-27	c.328 others(44): Show c.3282+644_3282+670delCATCCTTCCATCATCCATCCATCCATC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8234178	TCCATCAT others(20): Show TCCATCATCCATCCATTCATCCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0037 a0037	a0037c0092 a0037c0092	a0037c0092t0003 a0037c0092t0003	a0037c0092t0003g0365 a0037c0092t0003g0365	1	374	0.0027	-27	c.328 others(44): Show c.3282+667_3282+693delCATCATCCATCCATTCATCCATCCACC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHARPIN_chr8_144093637_144108773	144096762	TGGCAGTG others(20): Show TGGCAGTGGGCATGTGGAATACTTCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(286): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014	a0001c0001 a0001c0002 a0001c0011 others(12): Show a0001c0001 a0001c0002 a0001c0011 a0001c0018 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0007 a0008c0008 a0009c0016 a0010c0015 a0011c0012 a0013c0013 a0014c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0011t0001 a0001c0018t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001 a0008c0008t0001 a0009c0016t0001 a0010c0015t0001 a0011c0012t0001 a0013c0013t0001 a0014c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(60): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0002g0041 a0001c0001t0003g0042 a0001c0002t0001g0071 a0001c0011t0001g0043 a0001c0018t0001g0073 a0002c0004t0001g0018 a0002c0004t0001g0074 a0003c0003t0001g0013 a0003c0003t0001g0038 a0004c0005t0001g0023 a0004c0005t0001g0049 a0004c0005t0001g0055 a0005c0006t0001g0014 a0006c0007t0001g0015 a0008c0008t0001g0027 a0009c0016t0001g0067 a0010c0015t0001g0047 a0011c0012t0001g0056 a0013c0013t0001g0044 a0014c0014t0001g0045	289	334	0.8653	-27	c.20 others(38): Show c.2012_*2038delGGAGAAGTATTCCACATGCCCACTGCC	SHARPIN	ENSG00000179526.17	transcript	ENST00000398712.7	protein_coding		1874		chr8	TogoVar
SHCBP1L_chr1_182894865_182958166	182952170	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	302	0.0033	-27	c.405 others(42): Show c.405+532_405+558delATATATTTTTTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952172	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18986.hp1 NA18942.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	302	0.0066	-27	c.405 others(42): Show c.405+530_405+556delATATATATTTTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952174	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	302	0.0033	-27	c.405 others(42): Show c.405+528_405+554delATATATATATTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952178	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	302	0.0033	-27	c.405 others(42): Show c.405+524_405+550delATATATATATATATTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952182	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04184.hp1 NA18979.hp1 others(2): Show HG02602.hp2 HG04184.hp1 NA18979.hp1 NA19000.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 others(2): Show a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035	5	302	0.0166	-27	c.405 others(42): Show c.405+520_405+546delATATATATATATATATATTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952192	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	302	0.0033	-27	c.405 others(42): Show c.405+510_405+536delATATATATATATATATATATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHFL_chr19_10081317_10098243	10086325	GCCCCCTG others(20): Show GCCCCCTGCCCTGCGCGGCTGCTGGACC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	444	0.0023	-27	c.-10 others(35): Show c.-102_-76delCCCCCTGCCCTGCGCGGCTGCTGGACC	SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding	1/8	76		chr19	TogoVar
SHISA9_chr16_12896598_13245416	13152665	GTGCCAGG others(20): Show GTGCCAGGCAAGGATGGAACACCCAGTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	214	0.0047	-27	c.692 others(46): Show c.692-50699_692-50673delCCAGGCAAGGATGGAACACCCAGTTT G	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHLD1_chr20_5745401_5869395	5764138	AAATATAT others(20): Show AAATATATATATATTTATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0009 a0002c0004t0006g0009	1	328	0.0031	-27	c.-4- others(42): Show c.-4-8722_-4-8696delATATATATATATTTATATTTATATATA	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOX_chrX_625791_656584	643040	ACCCGGGA others(20): Show ACCCGGGAGGGCCTTGGGGATCTGGTGT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0157 a0001c0001t0157	a0001c0001t0157g0089 a0001c0001t0157g0089	1	220	0.0046	-27	c.634 others(44): Show c.634-1342_634-1316delGGCCTTGGGGATCTGGTGTCCCGGGAG	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	643406	TTGGGGAC others(20): Show TTGGGGACCTGGTGACCTTGGAGAGGCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0091 a0001c0001t0029g0091	1	220	0.0046	-27	c.634 others(42): Show c.634-968_634-942delTTGGAGAGGCCTGGGGACCTGGTGACC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76735857	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG03195.hp2 others(1): Show HG02572.hp2 HG03130.hp1 HG03195.hp2 HG03516.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0009c0021 a0004c0004 a0009c0021	a0004c0004t0001 a0004c0004t0009 a0009c0021t0009 a0004c0004t0001 a0004c0004t0009 a0009c0021t0009	a0004c0004t0001g0029 a0004c0004t0001g0101 a0004c0004t0009g0102 others(1): Show a0004c0004t0001g0029 a0004c0004t0001g0101 a0004c0004t0009g0102 a0009c0021t0009g0132	4	218	0.0184	-27	c.588 others(44): Show c.588-2902_588-2876delAAAAAAAAAAATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50795127	GATATATA others(20): Show GATATATATATATATATATGATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19000.hp1 HG03942.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0031 a0002c0002t0001 a0001c0001t0031 a0002c0002t0001	a0001c0001t0031g0131 a0002c0002t0001g0027 a0001c0001t0031g0131 a0002c0002t0001g0027	2	175	0.0114	-27	c.117 others(46): Show c.117+18748_117+18774delATATATATCATATATATATATATATA T	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03225.hp2 HG03710.hp1 HG01168.hp2 HG03225.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0064 a0001c0001t0002 a0001c0001t0031 a0001c0001t0064	a0001c0001t0002g0247 a0001c0001t0031g0217 a0001c0001t0064g0024 a0001c0001t0002g0247 a0001c0001t0031g0217 a0001c0001t0064g0024	3	292	0.0103	-27	c.173 others(44): Show c.173-2832_173-2806delAAAAAAAAAAAAAAAAAAAAAAAAAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16			chr10	TogoVar
SIK3_chr11_116838402_117103428	116844632	ATATTATA others(20): Show ATATTATATTATATATTATATATATAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00597.hp1 others(60): Show HG00280.hp1 HG00438.hp2 HG00597.hp1 HG00738.hp2 HG01099.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp1 HG02074.hp1 HG02109.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18960.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18979.hp1 NA18998.hp2 NA19000.hp1 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19070.hp2 NA19090.hp2 NA20905.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0010 a0018	a0001c0002 a0001c0026 a0002c0004 others(3): Show a0001c0002 a0001c0026 a0002c0004 a0008c0025 a0010c0021 a0018c0023	a0001c0002t0003 a0001c0002t0029 a0001c0026t0003 others(5): Show a0001c0002t0003 a0001c0002t0029 a0001c0026t0003 a0002c0004t0006 a0002c0004t0014 a0008c0025t0003 a0010c0021t0006 a0018c0023t0003	a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(60): Show a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0024 a0001c0002t0003g0172 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0271 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0356 a0001c0002t0029g0298 a0001c0026t0003g0173 a0002c0004t0006g0017 a0002c0004t0006g0151 a0002c0004t0006g0152 a0002c0004t0006g0153 a0002c0004t0006g0154 a0002c0004t0006g0155 a0002c0004t0006g0156 a0002c0004t0006g0157 a0002c0004t0006g0158 a0002c0004t0006g0159 a0002c0004t0006g0160 a0002c0004t0006g0161 a0002c0004t0006g0162 a0002c0004t0006g0163 a0002c0004t0006g0165 a0002c0004t0006g0166 a0002c0004t0006g0169 a0002c0004t0006g0294 a0002c0004t0006g0364 a0002c0004t0006g0365 a0002c0004t0006g0366 a0002c0004t0014g0168 a0008c0025t0003g0302 a0010c0021t0006g0150 a0018c0023t0003g0289	63	366	0.1721	-27	c.98 others(37): Show c.984_*1010delATTATATATATAATATATAATATAATA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	25/25	1737		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412611	GGAAAGAA others(20): Show GGAAAGAAAGAAGGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0054 a0002c0002t0007g0054	1	320	0.0031	-27	c.116 others(46): Show c.1167+8152_1167+8178delTTCTTTCTTTCTTTCCTTCTTTCTTT C	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIPA1L1_chr14_71315476_71746209	71543841	TGTATGTG others(20): Show TGTATGTGTATATATACATATATCATAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18957.hp1 NA18979.hp1 others(1): Show HG00673.hp2 NA18957.hp1 NA18979.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0002g0107	4	174	0.0230	-27	c.-30 others(48): Show c.-303+14503_-303+14529delGTGTATATATACATATATCATACG TAT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIRPB1_chr20_1556385_1625009	1561385	TGATTAAT others(20): Show TGATTAATCAAAGTTCATAGTTTATTTA	T T	splice_region_variant splice_region_variant	LOW	HG00735.hp2 HG00738.hp2 HG01074.hp1 others(26): Show HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01358.hp1 HG01981.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03453.hp2 HG03490.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18961.hp2 NA18983.hp2 NA19043.hp1 NA19058.hp1 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0012 a0015	a0001c0001 a0002c0002 a0007c0007 others(3): Show a0001c0001 a0002c0002 a0007c0007 a0011c0024 a0012c0026 a0015c0022	a0001c0001t0003 a0002c0002t0003 a0002c0002t0024 others(4): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0024 a0007c0007t0003 a0011c0024t0018 a0012c0026t0018 a0015c0022t0003	a0001c0001t0003g0005 a0001c0001t0003g0027 a0001c0001t0003g0051 others(16): Show a0001c0001t0003g0005 a0001c0001t0003g0027 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0069 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0090 a0002c0002t0003g0030 a0002c0002t0003g0110 a0002c0002t0003g0116 a0002c0002t0003g0117 a0002c0002t0024g0125 a0007c0007t0003g0025 a0007c0007t0003g0070 a0011c0024t0018g0208 a0012c0026t0018g0203 a0015c0022t0003g0068	29	364	0.0797	-27	c.40 others(38): Show c.4088_*4114delTAAATAAACTATGAACTTTGATTAATC	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding	6/6			chr20	TogoVar
SIRPD_chr20_1529251_1562705	1561385	TGATTAAT others(20): Show TGATTAATCAAAGTTCATAGTTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01074.hp1 others(26): Show HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01358.hp1 HG01981.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG03453.hp2 HG03490.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18961.hp1 NA18983.hp2 NA19043.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0027 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0002c0002t0001g0081	29	390	0.0744	-27	c.-37 others(38): Show c.-3759_-3733delTAAATAAACTATGAACTTTGATTAATC	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		3681		chr20	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(20): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG01074.hp1 others(61): Show HG00438.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03239.hp2 HG03471.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp2 NA18944.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18978.hp1 NA18993.hp2 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0009 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0003c0003t0001 a0004c0004t0003 a0004c0004t0005 a0004c0004t0012	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0009g0019 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0009g0019 a0003c0003t0001g0003 a0004c0004t0003g0006 a0004c0004t0005g0010 a0004c0004t0012g0031	64	414	0.1546	-27	c.-13 others(38): Show c.-1387_-1361delCTGCTGCTGCTGCTGCTGCTGCTGCTG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SKA3_chr13_21148595_21181552	21174889	TAATTTGC others(20): Show TAATTTGCATTTCCTTGATGACTAATGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(31): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00673.hp2 HG01069.hp1 HG01515.hp2 HG02015.hp1 HG02523.hp2 HG02735.hp2 HG02738.hp2 HG03704.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 NA18747.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18992.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19059.hp2 NA19064.hp1 NA19076.hp1 NA19077.hp2 NA19083.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0011 a0001c0001 a0002c0003 a0002c0011	a0001c0001t0001 a0002c0003t0005 a0002c0003t0009 others(2): Show a0001c0001t0001 a0002c0003t0005 a0002c0003t0009 a0002c0003t0016 a0002c0011t0005	a0001c0001t0001g0180 a0002c0003t0005g0006 a0002c0003t0005g0015 others(16): Show a0001c0001t0001g0180 a0002c0003t0005g0006 a0002c0003t0005g0015 a0002c0003t0005g0028 a0002c0003t0005g0031 a0002c0003t0005g0056 a0002c0003t0005g0057 a0002c0003t0005g0058 a0002c0003t0005g0059 a0002c0003t0005g0060 a0002c0003t0005g0062 a0002c0003t0005g0064 a0002c0003t0005g0065 a0002c0003t0005g0179 a0002c0003t0005g0181 a0002c0003t0009g0016 a0002c0003t0016g0061 a0002c0011t0005g0063 a0002c0011t0005g0182	34	378	0.0900	-27	c.103 others(44): Show c.103+1459_103+1485delTCATTAGTCATCAAGGAAATGCAAATT	SKA3	ENSG00000165480.16	transcript	ENST00000314759.6	protein_coding	1/8			chr13	TogoVar
SLC10A6_chr4_86818468_86854384	86842850	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	350	0.0029	-27	c.377 others(44): Show c.377+5862_377+5888delAAAGAAAGAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1098184	GCCCAGCC others(20): Show GCCCAGCCCCCCTCTAACCCTCTGCACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0063 a0002c0008t0002g0063	1	118	0.0085	-27	c.125 others(44): Show c.125-3963_125-3937delTGTGCAGAGGGTTAGAGGGGGGCTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC15A5_chr12_16183485_16282685	16193776	AAGGGGAG others(20): Show AAGGGGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0256 a0003c0003t0002g0256	1	324	0.0031	-27	c.159 others(44): Show c.1592+542_1592+568delCTCTCTCTCTCTCTCTCTCTCTCCCCT	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	8/8			chr12	TogoVar
SLC15A5_chr12_16183485_16282685	16205553	TATATATT others(20): Show TATATATTCCATAAGAAGGGAAAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01081.hp1 others(49): Show HG00597.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG03130.hp1 HG03486.hp2 HG03491.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18961.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18988.hp2 NA18991.hp1 NA18994.hp2 NA19054.hp1 NA19065.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0014 a0024	a0001c0001 a0002c0002 a0002c0005 others(6): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0006 a0003c0022 a0004c0004 a0014c0015 a0024c0020	a0001c0001t0001 a0002c0002t0002 a0002c0005t0001 others(7): Show a0001c0001t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0018 a0003c0003t0002 a0003c0006t0001 a0003c0022t0002 a0004c0004t0001 a0014c0015t0009 a0024c0020t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0027 others(49): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0216 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0145 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0211 a0002c0005t0001g0038 a0002c0005t0001g0170 a0002c0005t0001g0174 a0002c0005t0001g0181 a0002c0005t0001g0186 a0002c0005t0018g0162 a0003c0003t0002g0256 a0003c0003t0002g0261 a0003c0003t0002g0272 a0003c0003t0002g0306 a0003c0006t0001g0308 a0003c0022t0002g0010 a0004c0004t0001g0237 a0004c0004t0001g0288 a0004c0004t0001g0292 a0004c0004t0001g0293 a0014c0015t0009g0282 a0014c0015t0009g0312 a0024c0020t0001g0005	52	324	0.1605	-27	c.148 others(48): Show c.1484-11127_1484-11101delGCACCTTTCCCTTCTTATGGAATA TAT	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8			chr12	TogoVar
SLC16A2_chrX_74416493_74538916	74420673	TGGCCCGG others(20): Show TGGCCCGGCCCTGGCCCGGCCCAGACCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	235	0.0043	-27	c.-96 others(36): Show c.-964_-938delGGCCCGGCCCTGGCCCGGCCCAGACCC	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding		819		chrX	TogoVar
SLC16A9_chr10_59645764_59714850	59681647	GTATGTAT others(20): Show GTATGTATATGTATATGATGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0016 a0002c0002t0015 a0002c0002t0016	a0002c0002t0015g0007 a0002c0002t0016g0041 a0002c0002t0015g0007 a0002c0002t0016g0041	3	352	0.0085	-27	c.196 others(44): Show c.196+2422_196+2448delTACATATACATCATATACATATACATA	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC17A1_chr6_25777915_25837052	25789392	GAAATATT others(20): Show GAAATATTTACATAGTTCCAAAGTATGT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	348	0.0029	-27	c.3- others(42): Show c.3-6201_*3-6175delACATACTTTGGAACTATGTAAATATTT	SLC17A1	ENSG00000124568.12	transcript	ENST00000244527.10	protein_coding	12/12			chr6	TogoVar
SLC17A6_chr11_22333381_22384503	22339128	TGTTATAT others(20): Show TGTTATATATATATGTTATATATAGTTA	T T	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19083.hp1 NA19006.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0359 a0001c0001t0002g0404 a0001c0001t0001g0359 a0001c0001t0002g0404	2	450	0.0044	-27	c.86+ others(40): Show c.86+510_86+536delGTTATATATATATGTTATATATAGTTA	SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11			chr11	TogoVar
SLC19A1_chr21_45507565_45547440	45508080	ACAGGTGG others(20): Show ACAGGTGGGTGAGTGGATGGATGGTGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG04199.hp2 HG03942.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0020 a0002c0002t0002 a0001c0007t0020 a0002c0002t0002	a0001c0007t0020g0160 a0002c0002t0002g0202 a0001c0007t0020g0160 a0002c0002t0002g0202	2	318	0.0063	-27	c.75 others(38): Show c.7551_*7577delACCACCATCCATCCACTCACCCACCTG	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding		4484		chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45545652	CAGACATA others(20): Show CAGACATACACATGACACAGAGATACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02922.hp2 NA20129.hp1 HG02109.hp1 HG02922.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0027 a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0004g0027 a0002c0002t0004g0255 a0002c0002t0004g0256	3	318	0.0094	-27	c.-33 others(38): Show c.-3361_-3335delCTGTATCTCTGTGTCATGTGTATGTCT	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding		3213		chr21	TogoVar
SLC22A11_chr11_64550941_64577875	64552044	GAGCCTCT others(20): Show GAGCCTCTTCATTCTACACATGTTCGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	383	0.0026	-27	c.-39 others(38): Show c.-3955_-3929delAGCCTCTTCATTCTACACATGTTCGTA	SLC22A11	ENSG00000168065.16	transcript	ENST00000301891.9	protein_coding		3896		chr11	TogoVar

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Search Results (Total: 3848 hits)