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
SH3GL2_chr9_17574066_17802124	17628411	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	260	0.0039	-24	c.45+ others(41): Show c.45+49143_45+49166delGTGTGTGTGTGTGTGTGTGTGTGT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL3_chr15_83442341_83623743	83489837	CGATAGAT others(17): Show CGATAGATAGATAGATAGATAGATA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	324	0.0031	-24	c.45+ others(41): Show c.45+42288_45+42311delGATAGATAGATAGATAGATAGATA	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3GL3_chr15_83442341_83623743	83613620	AATCTATC others(17): Show AATCTATCTATCTATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp1 NA20300.hp2 HG02723.hp1 HG02976.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0221 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0221	3	324	0.0093	-24	c.839 others(41): Show c.839-4430_839-4407delTATCTATCTATCTATCTATCTATC	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3KBP1_chrX_19528977_19892600	19553930	TATATAAT others(17): Show TATATAATATATAATATATATTAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp2 HG03540.hp1 others(2): Show HG01099.hp1 HG01123.hp2 HG03540.hp1 NA19068.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0164	5	204	0.0245	-24	c.138 others(43): Show c.1385-3871_1385-3848delTTTAATATATATTATATATTATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760023	CCTCTCTC others(17): Show CCTCTCTCTCTCTCTCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	204	0.0049	-24	c.163 others(43): Show c.163-13606_163-13583delAGAGAGGGAGAGAGAGAGAGAGAG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19774654	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG02451.hp1 others(3): Show HG00639.hp2 HG01496.hp1 HG02451.hp1 HG02615.hp1 HG03688.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0112 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0112 a0001c0001t0001g0161 a0001c0001t0001g0191 a0001c0001t0001g0192	6	204	0.0294	-24	c.163 others(43): Show c.163-28237_163-28214delCTTTCTTTCTTTCTTTCTTTCTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19873273	CATATATA others(17): Show CATATATATATATATATGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp1 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0053 a0001c0006t0001g0054 a0001c0001t0001g0053 a0001c0006t0001g0054	2	204	0.0098	-24	c.4+1 others(39): Show c.4+14010_4+14033delATATATACATATATATATATATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103776425	CGTGTGTG others(17): Show CGTGTGTGTGTCTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0020 a0001c0002t0019g0020	1	250	0.0040	-24	c.154 others(41): Show c.154-9280_154-9257delACACACACACACAGACACACACAC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	2/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103795908	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0120 a0001c0002t0120	a0001c0002t0120g0163 a0001c0002t0120g0163	1	250	0.0040	-24	c.153 others(41): Show c.153+5350_153+5373delGCCTTCCTTCCTTCCTTCCTTCCT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	2/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348687	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	280	0.0036	-24	c.101 others(43): Show c.1013-1379_1013-1356delAATAGATAGATAGATAGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439257	AAAAAAAC others(17): Show AAAAAAACAAAAACAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	280	0.0036	-24	c.75+ others(41): Show c.75+14997_75+15020delGTTTTGTTTTTGTTTTTGTTTTTT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169187516	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG02074.hp2 others(17): Show HG00408.hp2 HG00423.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02165.hp1 HG02717.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 NA18951.hp2 NA18956.hp2 NA18967.hp1 NA18977.hp2 NA18990.hp2 NA19003.hp1 NA19009.hp2 NA19057.hp1 NA19063.hp2 NA19079.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0003c0016 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0004t0002 a0001c0006t0003 a0003c0016t0002 a0005c0011t0002	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0002g0032 others(17): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0002g0032 a0001c0001t0003g0048 a0001c0001t0013g0026 a0001c0004t0002g0037 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0042 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0002g0049 a0001c0004t0002g0050 a0001c0006t0003g0034 a0001c0006t0003g0051 a0003c0016t0002g0151 a0005c0011t0002g0035	20	216	0.0926	-24	c.394 others(43): Show c.394-30861_394-30838delCACACACACACACACACACACACA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF2_chr5_145931578_146068292	146064656	GAGAGAAA others(17): Show GAGAGAAAGAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02056.hp1 HG02486.hp1 others(5): Show HG01257.hp1 HG02056.hp1 HG02486.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA19057.hp2 NA19077.hp2	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0012	a0002c0002 a0003c0003 a0008c0028 others(1): Show a0002c0002 a0003c0003 a0008c0028 a0012c0020	a0002c0002t0001 a0003c0003t0001 a0008c0028t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0008c0028t0001 a0012c0020t0001	a0002c0002t0001g0116 a0003c0003t0001g0008 a0003c0003t0001g0216 others(5): Show a0002c0002t0001g0116 a0003c0003t0001g0008 a0003c0003t0001g0216 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0243 a0008c0028t0001g0221 a0012c0020t0001g0261	8	272	0.0294	-24	c.19 others(35): Show c.1956_*1979delAGAGAAAGAGAAAGAAAGAAAGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1365		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064664	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0257 a0001c0010t0001g0257	1	272	0.0037	-24	c.19 others(35): Show c.1964_*1987delAGAAAGAAAGAAAGAAAGAAAGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1373		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109170295	TTCTCTTC others(17): Show TTCTCTTCTCTTCTCTTCTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 NA18522.hp2 HG02055.hp1 HG02630.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0026 a0001c0001 a0001c0025 a0001c0026	a0001c0001t0003 a0001c0025t0045 a0001c0026t0005 a0001c0001t0003 a0001c0025t0045 a0001c0026t0005	a0001c0001t0003g0093 a0001c0025t0045g0064 a0001c0026t0005g0055 a0001c0001t0003g0093 a0001c0025t0045g0064 a0001c0026t0005g0055	3	172	0.0174	-24	c.573 others(43): Show c.573+40188_573+40211delTCTCTTCTCTTCTCTCCTCTCTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109199486	AATGGAAT others(17): Show AATGGAATGGATGGAATGGAATGGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	172	0.0058	-24	c.573 others(43): Show c.573+69384_573+69407delTGGAATGGAATGGGATGGAATGGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109331678	TTTTATCT others(17): Show TTTTATCTATTTTGTTTCTATTTTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp2 NA19030.hp1 HG02257.hp1 HG02647.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0039 a0001c0001t0060 a0001c0001t0007 a0001c0001t0039 a0001c0001t0060	a0001c0001t0007g0145 a0001c0001t0039g0019 a0001c0001t0060g0132 a0001c0001t0007g0145 a0001c0001t0039g0019 a0001c0001t0060g0132	3	172	0.0174	-24	c.574 others(43): Show c.574-15980_574-15957delTCTATTTTCTTTATCTATTTTGTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC2_chr5_148977150_149068062	148994600	ATGGTTGG others(17): Show ATGGTTGGTTGGTTGGTTGGTTGGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0130 a0003c0004t0130	a0003c0004t0130g0272 a0003c0004t0130g0272	1	326	0.0031	-24	c.10 others(37): Show c.10087_*10110delACCAACCAACCAACCAACCAACCA	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	17/17	10087		chr5	TogoVar
SH3YL1_chr2_213144_269032	214424	TGGGCTGC others(17): Show TGGGCTGCCCCTGCCAACAGGCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 NA18969.hp1 NA19062.hp2 HG03209.hp1 NA18969.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0071 a0001c0002t0002g0221 a0001c0002t0002g0245 a0001c0001t0001g0071 a0001c0002t0002g0221 a0001c0002t0002g0245	3	360	0.0083	-24	c.43 others(35): Show c.4363_*4386delGGTGCCTGTTGGCAGGGGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SHB_chr9_37910898_38074227	37916059	GCCAAGGG others(17): Show GCCAAGGGGCACCTGTGTTCCAGGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0030 a0001c0017t0030	a0001c0017t0030g0305 a0001c0017t0030g0306 a0001c0017t0030g0305 a0001c0017t0030g0306	2	330	0.0061	-24	c.37 others(35): Show c.3738_*3761delTCCTGGAACACAGGTGCCCCTTGG	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	6/6	3738		chr9	TogoVar
SHC2_chr19_411589_466033	437266	GTCTGCGT others(17): Show GTCTGCGTGCTCGTCTGTGTGCTCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19030.hp1 NA19043.hp2 others(1): Show HG02451.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0007 a0002c0024 a0010c0022 a0001c0007 a0002c0024 a0010c0022	a0001c0007t0002 a0001c0007t0006 a0002c0024t0003 others(1): Show a0001c0007t0002 a0001c0007t0006 a0002c0024t0003 a0010c0022t0002	a0001c0007t0002g0080 a0001c0007t0006g0037 a0002c0024t0003g0188 others(1): Show a0001c0007t0002g0080 a0001c0007t0006g0037 a0002c0024t0003g0188 a0010c0022t0002g0184	4	212	0.0189	-24	c.721 others(39): Show c.721-607_721-584delTGAGCACACAGACGAGCACGCAGA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	4/12			chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182915161	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp1 others(6): Show HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01257.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01978.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0043 a0005c0005t0001g0044 a0005c0005t0001g0045 others(6): Show a0005c0005t0001g0043 a0005c0005t0001g0044 a0005c0005t0001g0045 a0005c0005t0001g0046 a0005c0005t0001g0047 a0005c0005t0001g0048 a0005c0005t0001g0049 a0005c0005t0001g0050 a0005c0005t0001g0051	9	302	0.0298	-24	c.118 others(43): Show c.1183-9536_1183-9513delTTTTTTTTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	302	0.0033	-24	c.118 others(43): Show c.1182+4922_1182+4945delTCTTTCTTTCTTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00597.hp1 others(8): Show HG00280.hp1 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG01258.hp2 HG01346.hp1 HG02004.hp2 HG02155.hp2 HG02300.hp2 HG03704.hp2 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0121 others(8): Show a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0249 a0001c0001t0001g0262 a0002c0002t0001g0023	11	302	0.0364	-24	c.118 others(43): Show c.1182+2573_1182+2596delTATATATATATATATATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930551	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02300.hp2 HG02004.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0210 a0001c0001t0001g0211	2	302	0.0066	-24	c.107 others(41): Show c.1077-823_1077-800delTATATATATATATATATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930653	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG02976.hp1 others(2): Show HG02622.hp1 HG02965.hp1 HG02976.hp1 HG03486.hp1 HG03516.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0052 a0003c0008t0001g0053 a0003c0008t0001g0054 others(2): Show a0003c0008t0001g0052 a0003c0008t0001g0053 a0003c0008t0001g0054 a0003c0008t0001g0055 a0003c0008t0001g0064	5	302	0.0166	-24	c.107 others(41): Show c.1077-925_1077-902delCACACACACACACACACACACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182930681	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02886.hp2 HG02622.hp2 HG02723.hp1 HG02886.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0056 a0003c0006t0001g0062 a0003c0006t0001g0063 a0003c0006t0001g0056 a0003c0006t0001g0062 a0003c0006t0001g0063	3	302	0.0099	-24	c.107 others(41): Show c.1077-953_1077-930delTACACACACACACACACACACACA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	5/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952171	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0260 a0001c0009t0001g0260	1	302	0.0033	-24	c.405 others(39): Show c.405+534_405+557delATATTTTTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952177	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	302	0.0033	-24	c.405 others(39): Show c.405+528_405+551delATATATATATTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952181	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	302	0.0033	-24	c.405 others(39): Show c.405+524_405+547delATATATATATATATTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952185	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0298 a0006c0007t0001g0298	1	302	0.0033	-24	c.405 others(39): Show c.405+520_405+543delATATATATATATATATATTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHD_chr19_4274266_4295722	4286226	CTTTCTTT others(17): Show CTTTCTTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01433.hp1 others(13): Show HG00735.hp2 HG01069.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02056.hp1 HG02074.hp2 HG04204.hp2 NA18612.hp1 NA18944.hp2 NA18977.hp1 NA18991.hp2 NA19030.hp1 NA19084.hp2 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0005t0002 a0002c0003t0003 a0003c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0155 a0001c0001t0002g0039 others(10): Show a0001c0001t0001g0019 a0001c0001t0001g0155 a0001c0001t0002g0039 a0001c0001t0002g0103 a0001c0001t0002g0146 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0199 a0001c0001t0002g0311 a0001c0001t0012g0198 a0001c0005t0002g0294 a0002c0003t0003g0091 a0003c0004t0001g0150	16	462	0.0346	-24	c.716 others(41): Show c.716+1323_716+1346delTTTCTTTTCTTTCTTTCTTTCTTT	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5			chr19	TogoVar
SHISA6_chr17_11236213_11569063	11388788	GTTTATAT others(17): Show GTTTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp1 HG02273.hp1 others(1): Show HG01258.hp1 HG01981.hp1 HG02273.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0024	a0001c0001t0002g0008 a0001c0001t0003g0044 a0001c0001t0004g0042 others(1): Show a0001c0001t0002g0008 a0001c0001t0003g0044 a0001c0001t0004g0042 a0001c0001t0024g0036	4	192	0.0208	-24	c.895 others(41): Show c.895+9281_895+9304delTTATATATATATATATATATATAT	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12943308	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02647.hp2 HG02071.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0153 a0001c0001t0013g0122 a0001c0001t0002g0153 a0001c0001t0013g0122	2	214	0.0094	-24	c.691 others(43): Show c.691+26495_691+26518delTGTGTGTGTGTGTGTGTGTGTGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943310	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0056 a0001c0001t0065g0056	1	214	0.0047	-24	c.691 others(43): Show c.691+26497_691+26520delTGTGTGTGTGTGTGTGTGTGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943320	TGTGTGTG others(17): Show TGTGTGTGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0157 a0001c0001t0037g0157	1	214	0.0047	-24	c.691 others(43): Show c.691+26507_691+26530delTGTGTGTGTGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019764	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0119 a0001c0001t0023g0119	1	214	0.0047	-24	c.691 others(45): Show c.691+102997_691+103020delCTTTCTTTCTTTCTTTCTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019866	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19056.hp1 HG03471.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0070 a0001c0001t0002g0152 a0001c0001t0001g0070 a0001c0001t0002g0152	2	214	0.0094	-24	c.691 others(45): Show c.691+103053_691+103076delCTCCCTCCCTCCCTCCCTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019878	CCCTCCCT others(17): Show CCCTCCCTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0039 a0001c0001t0046g0039	1	214	0.0047	-24	c.691 others(45): Show c.691+103065_691+103088delCTCCCTTCTTTCTTTCTTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019880	CTCCCTTC others(17): Show CTCCCTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	214	0.0047	-24	c.691 others(45): Show c.691+103067_691+103090delCCCTTCTTTCTTTCTTTCTTTCTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019882	CCCTTCTT others(17): Show CCCTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19012.hp1 NA19060.hp2 HG00544.hp1 NA19012.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0018 a0001c0001t0041 a0001c0001t0016 a0001c0001t0018 a0001c0001t0041	a0001c0001t0016g0200 a0001c0001t0018g0131 a0001c0001t0041g0019 a0001c0001t0016g0200 a0001c0001t0018g0131 a0001c0001t0041g0019	3	214	0.0140	-24	c.691 others(45): Show c.691+103069_691+103092delCTTCTTTCTTTCTTTCTTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019884	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0100 a0001c0001t0052g0100	1	214	0.0047	-24	c.691 others(45): Show c.691+103121_691+103144delTTTCTTTCTTTCTTTCTTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019948	TTTCTTTC others(17): Show TTTCTTTCTTTCCCTCCTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18983.hp2 HG02015.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0028 a0001c0001t0010 a0001c0001t0028	a0001c0001t0010g0133 a0001c0001t0028g0172 a0001c0001t0010g0133 a0001c0001t0028g0172	2	214	0.0094	-24	c.691 others(45): Show c.691+103137_691+103160delTTTCTTTCCCTCCTTCTTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHLD2_chr10_87090206_87196465	87115577	GTTGTCAT others(17): Show GTTGTCATGGGTTAAAACGTTCAGA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	340	0.0029	-24	c.-6+ others(41): Show c.-6+18608_-6+18631delTCAGATTGTCATGGGTTAAAACGT	SHLD2	ENSG00000122376.12	transcript	ENST00000298786.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOX_chrX_625791_656584	655602	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18953.hp1 NA18979.hp2 others(1): Show NA18949.hp1 NA18953.hp1 NA18979.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0095 a0001c0001t0115 others(1): Show a0001c0001t0005 a0001c0001t0095 a0001c0001t0115 a0001c0001t0118	a0001c0001t0005g0054 a0001c0001t0095g0035 a0001c0001t0115g0195 others(1): Show a0001c0001t0005g0054 a0001c0001t0095g0035 a0001c0001t0115g0195 a0001c0001t0118g0009	4	220	0.0182	-24	c.10 others(37): Show c.10967_*10990delTCTCTCTCTCTCTATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4019		chrX	TogoVar
SHOX_chrX_625791_656584	655604	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18981.hp2 NA18991.hp1 NA18946.hp2 NA18981.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0062 a0001c0001t0199 a0001c0001t0005 a0001c0001t0062 a0001c0001t0199	a0001c0001t0005g0186 a0001c0001t0062g0044 a0001c0001t0199g0017 a0001c0001t0005g0186 a0001c0001t0062g0044 a0001c0001t0199g0017	3	220	0.0136	-24	c.10 others(37): Show c.10969_*10992delTCTCTCTCTCTATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4021		chrX	TogoVar
SHOX_chrX_625791_656584	655606	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18950.hp1 NA18956.hp1 HG00597.hp1 NA18950.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0073 a0001c0001t0154 a0001c0001t0040 a0001c0001t0073 a0001c0001t0154	a0001c0001t0040g0112 a0001c0001t0073g0201 a0001c0001t0154g0036 a0001c0001t0040g0112 a0001c0001t0073g0201 a0001c0001t0154g0036	3	220	0.0136	-24	c.10 others(37): Show c.10971_*10994delTCTCTCTCTATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4023		chrX	TogoVar
SHOX_chrX_625791_656584	655608	CTCTCTCT others(17): Show CTCTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02004.hp1 HG00741.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0175 a0001c0001t0078 a0001c0001t0175	a0001c0001t0078g0105 a0001c0001t0175g0168 a0001c0001t0078g0105 a0001c0001t0175g0168	2	220	0.0091	-24	c.10 others(37): Show c.10973_*10996delTCTCTCTATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4025		chrX	TogoVar
SHQ1_chr3_72744277_72853445	72833444	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	222	0.0045	-24	c.487 others(39): Show c.487-987_487-964delTATCTATCTATCTATCTATCTATC	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	4/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72833479	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG03516.hp1 others(1): Show HG02615.hp1 HG02717.hp1 HG03516.hp1 HG06807.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0008c0007t0001 a0002c0002t0001 a0008c0007t0001	a0002c0002t0001g0023 a0002c0002t0001g0024 a0008c0007t0001g0207 others(1): Show a0002c0002t0001g0023 a0002c0002t0001g0024 a0008c0007t0001g0207 a0008c0007t0001g0208	4	222	0.0180	-24	c.487 others(40): Show c.487-1022_487-999delGTCTATCTATCTATCTATCTATCT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	4/10			chr3	TogoVar

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