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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ASB2_chr14_93929166_93981570	93948637	CCAAGAAA others(89): Show CCAAGAAAATACTAGGCCAGGTGCAATGGCTCACACTTGTAATCCCAGCA CTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGCTCAGGAATTCAAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 NA18522.hp2 HG02451.hp2 HG02572.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0141 a0001c0002t0002g0154 a0001c0002t0002g0047 a0001c0002t0002g0141 a0001c0002t0002g0154	3	373	0.0080	-96	c.881 others(113): Show c.881-1213_881-1118delCTTGAATTCCTGAGCTCAAGTGATCTGC CCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCATTGCACC TGGCCTAGTATTTTCTTG	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	6/9			chr14	TogoVar
ASIC2_chr17_33008087_33298295	33269655	CTTCCTTC others(89): Show CTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCTGCCTGCCTGCCTGCCT GCCTGCCTTTCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp1 others(5): Show HG01167.hp1 HG01169.hp1 HG01192.hp1 HG02129.hp1 HG03041.hp1 NA18943.hp2 NA18945.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0004t0001	a0001c0001t0003g0020 a0001c0001t0004g0039 a0001c0001t0007g0233 others(4): Show a0001c0001t0003g0020 a0001c0001t0004g0039 a0001c0001t0007g0233 a0001c0001t0019g0225 a0001c0004t0001g0001 a0001c0004t0001g0167 a0001c0004t0001g0169	8	240	0.0333	-96	c.708 others(115): Show c.708+21657_708+21752delAGAAGGAAGGAAGGAAGGAGGGAGGG AGGAAGGGAGGAAAGGCAGGCAGGCAGGCAGGCAGGCAGGAGGGAGGGAG GGAAGGAAGGAAGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASRGL1_chr11_62332448_62398412	62362542	AAATATAT others(89): Show AAATATATAACATATATTATTTATATAATATATATTATATAAAATATATA ATATATATTATATAAAATATATATTATATATTATATAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	370	0.0027	-96	c.491 others(113): Show c.491+5408_491+5503delCATATATTATTTATATAATATATATTAT ATAAAATATATAATATATATTATATAAAATATATATTATATATTATATAA AATATATATAATATATAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP11A_chr13_112685038_112892168	112790073	CGTGTAGA others(89): Show CGTGTAGACTCCTATGTAGACCTATTTAATTCACACCAGGAGTCCTGATA TGTAGATCCCTGTGGAGACCTACTTAATTCACACCCGGCATCCTGAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(75): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02735.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18969.hp1 NA18974.hp2 NA18978.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0013	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0014 a0001c0019 a0001c0022 a0001c0028 a0002c0003 a0002c0010 a0003c0007 a0003c0008 a0003c0012 a0005c0032 a0006c0034 a0008c0035 a0013c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0072 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0001c0002t0016 a0001c0002t0018 a0001c0002t0059 a0001c0002t0070 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0028 a0001c0004t0029 a0001c0005t0001 a0001c0005t0020 a0001c0005t0061 a0001c0005t0071 a0001c0006t0001 a0001c0011t0001 a0001c0014t0003 a0001c0014t0043 a0001c0019t0008 a0001c0022t0001 a0001c0028t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0003t0009 a0002c0003t0025 a0002c0003t0027 a0002c0010t0001 a0002c0010t0010 a0002c0010t0040 a0003c0007t0011 a0003c0008t0005 a0003c0008t0008 a0003c0008t0011 a0003c0012t0005 a0005c0032t0001 a0006c0034t0031 a0008c0035t0001 a0013c0036t0062	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(75): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0002g0206 a0001c0001t0010g0122 a0001c0001t0019g0018 a0001c0001t0022g0202 a0001c0001t0026g0227 a0001c0001t0072g0006 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0190 a0001c0002t0003g0198 a0001c0002t0007g0110 a0001c0002t0012g0026 a0001c0002t0012g0028 a0001c0002t0016g0209 a0001c0002t0018g0189 a0001c0002t0059g0201 a0001c0002t0070g0199 a0001c0004t0001g0224 a0001c0004t0002g0195 a0001c0004t0002g0208 a0001c0004t0006g0203 a0001c0004t0006g0228 a0001c0004t0028g0246 a0001c0004t0029g0060 a0001c0005t0001g0223 a0001c0005t0020g0247 a0001c0005t0061g0129 a0001c0005t0071g0125 a0001c0006t0001g0135 a0001c0006t0001g0184 a0001c0006t0001g0194 a0001c0011t0001g0139 a0001c0014t0003g0178 a0001c0014t0043g0056 a0001c0019t0008g0051 a0001c0022t0001g0196 a0001c0028t0002g0136 a0002c0003t0001g0137 a0002c0003t0001g0236 a0002c0003t0002g0118 a0002c0003t0002g0238 a0002c0003t0002g0248 a0002c0003t0007g0185 a0002c0003t0007g0186 a0002c0003t0009g0143 a0002c0003t0009g0226 a0002c0003t0009g0232 a0002c0003t0009g0242 a0002c0003t0025g0241 a0002c0003t0027g0233 a0002c0010t0001g0200 a0002c0010t0001g0239 a0002c0010t0010g0222 a0002c0010t0040g0221 a0003c0007t0011g0025 a0003c0008t0005g0249 a0003c0008t0008g0245 a0003c0008t0011g0020 a0003c0012t0005g0235 a0003c0012t0005g0243 a0005c0032t0001g0234 a0006c0034t0031g0075 a0008c0035t0001g0187 a0013c0036t0062g0204	78	254	0.3071	-96	c.162 others(113): Show c.162+4908_162+5003delCTGATGTGTAGACTCCTATGTAGACCTA TTTAATTCACACCAGGAGTCCTGATATGTAGATCCCTGTGGAGACCTACT TAATTCACACCCGGCATC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112790377	TAGACCTA others(89): Show TAGACCTACTTAATTCACACCGGGTGTCCTGATGTGTAGACCCCTGTGGA GACCTGCTTAATTCACACCGGGTATTCTGACATGTAGACTCCTGTGG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02622.hp1 others(13): Show HG01261.hp1 HG01891.hp1 HG02622.hp1 HG02717.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA19043.hp1	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0020 a0004c0015 a0014c0023	a0001c0001t0001 a0001c0001t0021 a0001c0001t0067 others(12): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0067 a0001c0002t0001 a0001c0002t0008 a0001c0002t0015 a0001c0002t0032 a0001c0002t0039 a0001c0002t0053 a0001c0004t0003 a0001c0009t0004 a0001c0009t0049 a0001c0020t0008 a0004c0015t0002 a0014c0023t0002	a0001c0001t0001g0065 a0001c0001t0021g0092 a0001c0001t0067g0093 others(13): Show a0001c0001t0001g0065 a0001c0001t0021g0092 a0001c0001t0067g0093 a0001c0002t0001g0091 a0001c0002t0008g0066 a0001c0002t0015g0054 a0001c0002t0015g0163 a0001c0002t0032g0179 a0001c0002t0039g0212 a0001c0002t0053g0116 a0001c0004t0003g0149 a0001c0009t0004g0140 a0001c0009t0049g0141 a0001c0020t0008g0063 a0004c0015t0002g0087 a0014c0023t0002g0064	16	254	0.0630	-96	c.162 others(113): Show c.162+5262_162+5357delTGGAGACCTGCTTAATTCACACCGGGTA TTCTGACATGTAGACTCCTGTGGAGACCTACTTAATTCACACCGGGTGTC CTGATGTGTAGACCCCTG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840107	CTCCAGCC others(89): Show CTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCC CACTCTCCCATCCCCCCCAGCCTCAGCCTCCCCACTCTCCCGTGCCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02970.hp1 others(4): Show HG01243.hp1 HG02572.hp1 HG02970.hp1 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0034 a0001c0002t0047 a0001c0009t0004 a0001c0009t0049	a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0117 others(4): Show a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0117 a0001c0002t0034g0042 a0001c0002t0047g0112 a0001c0009t0004g0140 a0001c0009t0049g0141	7	254	0.0276	-96	c.170 others(115): Show c.1706-2110_1706-2015delATCCCCCCCAGCCTCAGCCTCCCCAC TCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGC CTCAGCCTCCCCACTCTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2B4_chr1_203621832_203749081	203624200	GAGAAAGA others(89): Show GAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0017 a0001c0002t0013g0017	1	318	0.0031	-96	c.-34 others(107): Show c.-3483_-3388delAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		2631		chr1	TogoVar
ATP9B_chr18_79064394_79383283	79145570	GAGAGTGA others(89): Show GAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCA GAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0061 a0001c0004t0003g0061	1	298	0.0034	-96	c.726 others(113): Show c.726+1798_726+1893delGCGGTGTGCAGAGTGACTGAAGGTGCAG GCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGC TGCATGTCGGGGGAGCTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79145888	GGGGGAGC others(89): Show GGGGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGG GGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0154	1	298	0.0034	-96	c.726 others(113): Show c.726+2038_726+2133delGCGGTGTGGAGAGTGACTGAAGGTGCAG GCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGC TGCATGTCAGGGGAGCTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT4_chr11_364499_387117	381288	ACTGACCA others(89): Show ACTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCGCC CCCGGCCCCGGGGTCCTGACCACCTCTCCGCCCCCGGCCCCGGGTTC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG00738.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0091 a0001c0001t0001g0057 a0001c0001t0001g0091	2	184	0.0109	-96	c.299 others(113): Show c.2997-319_2997-224delGTCCTGACCACCTCTCCGCCCCCGGCCC CGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTC TCCGCCCCCGGCCCCGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	381382	TTCCTGAC others(89): Show TTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTCTCCG CCCCCGGCCCCGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	184	0.0054	-96	c.299 others(113): Show c.2997-255_2997-160delGTCCTGACCACCTCTCCGCCCCCGGCCC CGGGTTCCTGACCACCTCTCCGCCCCCGGCCCCGGGGTCCTGACCACCTC TCCGCCCCCGGCCCCGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2_chr17_81030151_81122434	81053801	CGCCCGGG others(89): Show CGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTG CCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	376	0.0027	-96	c.130 others(111): Show c.130+118_130+213delGTGGGGTGGGAGCTGCCTCCTGAGCTGGTA GAACTGTGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGA ACTGTGCCCGGGCCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANP_chr16_87946434_88082316	87998873	CATGCACG others(89): Show CATGCACGCACGTGCGCGGCTGTACTTACCAGGCCTTCCAGACACGTCTC CATGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03098.hp2 HG00639.hp2 HG03098.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0012t0001g0160 a0001c0012t0001g0161	2	352	0.0057	-96	c.363 others(113): Show c.363-5411_363-5316delGTGCGCGGCTGTACTTACCAGGCCTTCC AGACACGTCTCCATGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGAC ACGTCTCTATGCACGCAC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87998888	GCGGCTGT others(89): Show GCGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGTGCGCGG CTGTACTTACCTGTCCTTCCAGACACGTCTCTATGCACGCACTTGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02818.hp1 others(4): Show HG01884.hp1 HG02257.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 others(4): Show a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0270 a0001c0008t0001g0271 a0001c0008t0001g0272 a0001c0008t0001g0273	7	352	0.0199	-96	c.363 others(113): Show c.363-5364_363-5269delTGCGCGGCTGTACTTACCTGTCCTTCCA GACACGTCTCTATGCACGCACTTGCACGGCTGTACTTACCAGGCCTTCCA GACACGTCTCCATGCACG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BICD1_chr12_32101847_32388633	32346542	ATATATAT others(89): Show ATATATATATATATATATATATATATATATATATATATATACGTGTATAT ATATATATATATATATATATACGTGTATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp1 HG03486.hp2 others(5): Show HG02809.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0038 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0038 a0001c0002t0003 a0001c0002t0007 a0001c0002t0037	a0001c0001t0003g0246 a0001c0001t0007g0167 a0001c0001t0038g0098 others(5): Show a0001c0001t0003g0246 a0001c0001t0007g0167 a0001c0001t0038g0098 a0001c0002t0003g0148 a0001c0002t0003g0168 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0002t0037g0095	8	290	0.0276	-96	c.276 others(115): Show c.2764+7584_2764+7679delTATATATATATATATATATACGTGTA TATATATATATATATATATATATACGTGTATATATATATATATATACGTG TATATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BIRC7_chr20_63230905_63245495	63231765	CCACCGTG others(89): Show CCACCGTGCAGTCTGATTAATGCTTAATTATAATAATATTTCTGTCCAGA ACCCGACATGCAATTCTTGTCAGCCCTGTGGAGACAGTTTTGTTACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	300	0.0033	-96	c.-43 others(107): Show c.-4331_-4236delCACCGTGCAGTCTGATTAATGCTTAATTATAATA ATATTTCTGTCCAGAACCCGACATGCAATTCTTGTCAGCCCTGTGGAGAC AGTTTTGTTACA	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		4139		chr20	TogoVar
BPTF_chr17_67820503_67989378	67843105	TATGTAGA others(89): Show TATGTAGATGTATGTAGATATATACCTATATCTACATACATATAAATATA TATCTACATATATAGATACATATAGATATCTACATACATCTACATAC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	274	0.0037	-96	c.614 others(115): Show c.614-10804_614-10709delCTACATACATATAAATATATATCTAC ATATATAGATACATATAGATATCTACATACATCTACATACATGTAGATGT ATGTAGATATATACCTATAT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRSK2_chr11_1384934_1467689	1430539	CGGTCTGG others(89): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp1 HG02155.hp1 HG01099.hp2 HG01515.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0158 a0002c0002t0002g0169 a0002c0002t0002g0170	3	360	0.0083	-96	c.92- others(111): Show c.92-5404_92-5309delGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431673	CGGTCTGG others(89): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp1 HG03225.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0042 a0002c0002t0019g0043 a0002c0002t0019g0042 a0002c0002t0019g0043	2	360	0.0056	-96	c.92- others(111): Show c.92-4270_92-4175delGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431816	CGGTCTGG others(89): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	360	0.0028	-96	c.92- others(111): Show c.92-4197_92-4102delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCA GGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431843	TCAGCAGT others(89): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	360	0.0028	-96	c.92- others(111): Show c.92-4150_92-4055delTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432147	CGGTCTGG others(89): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp1 HG01099.hp2 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0015 a0002c0002t0002 a0002c0002t0015	a0002c0002t0002g0170 a0002c0002t0015g0330 a0002c0002t0002g0170 a0002c0002t0015g0330	2	360	0.0056	-96	c.92- others(111): Show c.92-3866_92-3771delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCA GGTTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C11orf21_chr11_2290628_2306918	2300151	TGGGCAGG others(89): Show TGGGCAGGGGCATGTGGGGTGGGCAGGGGTGTGTGAGGTTGGGCAGGGGC GTGTGGGGTGGGCAGGGGTGTGTGAGGGTGGGCAGGGGTGTGTGGGG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0061 a0001c0003t0028g0061	1	426	0.0024	-96	c.147 others(111): Show c.147+273_147+368delCCCCACACACCCCTGCCCACCCTCACACAC CCCTGCCCACCCCACACGCCCCTGCCCAACCTCACACACCCCTGCCCACC CCACATGCCCCTGCCC	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding	2/3			chr11	TogoVar
C13orf42_chr13_51077119_51116274	51078191	GGGGGGGT others(89): Show GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCATCCAGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18997.hp2 HG02155.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0003g0113 a0001c0001t0001g0060 a0001c0001t0003g0113	2	452	0.0044	-96	c.58 others(107): Show c.5864_*5959delACCTCCCTCCTGGATGGGGCGGCTGGCTGGGCGG GGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCC	C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding		3927		chr13	TogoVar
C13orf42_chr13_51077119_51116274	51078202	CCCCCCGC others(89): Show CCCCCCGCCTGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTCAGCC CCCCGCCCAGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG01069.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0003c0003t0001 a0004c0004t0011 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(99): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0003g0006 a0001c0001t0003g0050 a0001c0001t0003g0091 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0015g0120 a0003c0003t0001g0014 a0004c0004t0011g0066 a0006c0008t0001g0092	192	452	0.4248	-96	c.58 others(107): Show c.5853_*5948delCTGACCCCCCCACCTCCCTCCTGGATGGGGCGGC TGGCTGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCAGGCGGGGG	C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding		3916		chr13	TogoVar
C1orf159_chr1_1076823_1121089	1080649	ACCCCCAC others(89): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02080.hp2 HG02257.hp2 others(10): Show HG01891.hp2 HG02080.hp2 HG02257.hp2 HG02451.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG03195.hp1 HG03239.hp2 HG03516.hp1 HG04184.hp2 NA18906.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0138 a0001c0001t0001g0295 a0001c0001t0002g0030 others(10): Show a0001c0001t0001g0138 a0001c0001t0001g0295 a0001c0001t0002g0030 a0001c0001t0002g0076 a0001c0001t0002g0114 a0001c0001t0002g0145 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0165 a0001c0001t0003g0260 a0001c0001t0003g0285 a0001c0001t0003g0288 a0001c0002t0004g0306	13	326	0.0399	-96	c.21 others(107): Show c.2148_*2243delCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCG GAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGA CCGAGGTGGGGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1173		chr1	TogoVar
C2CD3_chr11_74007718_74176002	74117048	GTATATAT others(89): Show GTATATATATATGAATATATATATATGAATATATATATGAATATATATAT ATGAATATATATATATGAATATATATATATGAATATATATATATGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(48): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02523.hp1 HG02818.hp1 HG03139.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 NA18747.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18970.hp2 NA18972.hp1 NA18980.hp2 NA18982.hp2 NA18988.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1	a0003 a0007 a0008 others(2): Show a0003 a0007 a0008 a0023 a0025	a0003c0002 a0007c0026 a0008c0007 others(2): Show a0003c0002 a0007c0026 a0008c0007 a0023c0037 a0025c0036	a0003c0002t0001 a0003c0002t0003 a0007c0026t0001 others(3): Show a0003c0002t0001 a0003c0002t0003 a0007c0026t0001 a0008c0007t0001 a0023c0037t0001 a0025c0036t0001	a0003c0002t0001g0241 a0003c0002t0001g0243 a0003c0002t0001g0244 others(48): Show a0003c0002t0001g0241 a0003c0002t0001g0243 a0003c0002t0001g0244 a0003c0002t0001g0245 a0003c0002t0001g0246 a0003c0002t0001g0247 a0003c0002t0001g0248 a0003c0002t0001g0251 a0003c0002t0001g0252 a0003c0002t0001g0253 a0003c0002t0001g0255 a0003c0002t0001g0256 a0003c0002t0001g0257 a0003c0002t0001g0258 a0003c0002t0001g0259 a0003c0002t0001g0264 a0003c0002t0001g0265 a0003c0002t0001g0266 a0003c0002t0001g0267 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0001g0270 a0003c0002t0001g0271 a0003c0002t0001g0272 a0003c0002t0001g0273 a0003c0002t0001g0274 a0003c0002t0001g0275 a0003c0002t0001g0277 a0003c0002t0001g0278 a0003c0002t0001g0279 a0003c0002t0001g0280 a0003c0002t0001g0281 a0003c0002t0001g0282 a0003c0002t0001g0283 a0003c0002t0001g0284 a0003c0002t0001g0285 a0003c0002t0001g0286 a0003c0002t0001g0288 a0003c0002t0001g0289 a0003c0002t0001g0292 a0003c0002t0001g0297 a0003c0002t0001g0298 a0003c0002t0001g0299 a0003c0002t0001g0300 a0003c0002t0003g0002 a0003c0002t0003g0003 a0003c0002t0003g0004 a0007c0026t0001g0005 a0008c0007t0001g0177 a0023c0037t0001g0276 a0025c0036t0001g0287	51	318	0.1604	-96	c.152 others(115): Show c.1520+1084_1520+1179delTTCATATATATATATTCATATATATA TATTCATATATATATATTCATATATATATATTCATATATATATTCATATA TATATATTCATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117117	TATATATA others(89): Show TATATATATATGAATATATATATATGAATATATATATATGAATATATATA TATGAATATATATATATGAATATATATATATGAATATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0020 a0020	a0020c0040 a0020c0040	a0020c0040t0001 a0020c0040t0001	a0020c0040t0001g0301 a0020c0040t0001g0301	1	318	0.0031	-96	c.152 others(115): Show c.1520+1015_1520+1110delTCATATATATATATTCATATATATAT ATTCATATATATATATTCATATATATATATTCATATATATATATTCATAT ATATATATTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	404316	GGGGGGGA others(89): Show GGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCT GCCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	-96	c.26 others(107): Show c.2684_*2779delACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCA GACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGA CCCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1128		chr19	TogoVar
C2CD4C_chr19_400445_414147	404325	GGGGTCCT others(89): Show GGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGG GGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0042 a0001c0001t0030g0042	1	322	0.0031	-96	c.26 others(107): Show c.2675_*2770delGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTC CCCCCCTCAGACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTC AGGGCAGGACCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1119		chr19	TogoVar
C2CD4C_chr19_400445_414147	404347	GGGGGGGG others(89): Show GGGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGGTC CTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02300.hp1 HG02602.hp1 others(4): Show HG00558.hp1 HG02300.hp1 HG02602.hp1 HG02735.hp2 HG03669.hp2 HG04184.hp2 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0001t0021 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0024 a0001c0002t0108 a0003c0009t0006	a0001c0001t0001g0001 a0001c0001t0021g0022 a0001c0001t0024g0017 others(2): Show a0001c0001t0001g0001 a0001c0001t0021g0022 a0001c0001t0024g0017 a0001c0002t0108g0060 a0003c0009t0006g0150	7	322	0.0217	-96	c.26 others(107): Show c.2653_*2748delACACCCCTCAGGGCAGGACCCCGTCCCCCCCACA CCCCTCAGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCAGGGCAGGACC CCGTCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1097		chr19	TogoVar
C2CD4C_chr19_400445_414147	404358	GGGGTCCT others(89): Show GGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGG GGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0087 a0001c0001t0106g0087	1	322	0.0031	-96	c.26 others(107): Show c.2642_*2737delGTCCCCCCCCCACACCCCTCAGGGCAGGACCCCG TCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCAGACCCCTC AGGGCAGGACCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1086		chr19	TogoVar
C2CD4C_chr19_400445_414147	404582	GGGTCCTG others(89): Show GGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGAGGGG TGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0132 a0001c0002t0132	a0001c0002t0132g0141 a0001c0002t0132g0141	1	322	0.0031	-96	c.24 others(107): Show c.2418_*2513delGTCCCCCCCTCAGACCCCTCAGGGCAGGACCCCA TCCCCCCTCCACACCCCTCAGGGCAGGACCCGTCTCCCCCTCAGACCCCT CAGGGCAGGACC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		862		chr19	TogoVar
C2CD6_chr2_201482421_201624178	201563373	CCCCCCAC others(89): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	270	0.0037	-96	c.977 others(113): Show c.977+2260_977+2355delTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C3_chr19_6672704_6725650	6700357	TATGTAAT others(89): Show TATGTAATATGATATATTATATATGTAATATATGATATATATGTAATATG ATATATTATATATGTAATATATGATATATGTAATATGATATATGTAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01934.hp1 HG02109.hp2 others(16): Show HG01891.hp2 HG01934.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp2 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19010.hp1	a0001 a0001	a0001c0011 a0001c0014 a0001c0019 others(5): Show a0001c0011 a0001c0014 a0001c0019 a0001c0055 a0001c0057 a0001c0064 a0001c0065 a0001c0073	a0001c0011t0001 a0001c0014t0001 a0001c0019t0001 others(5): Show a0001c0011t0001 a0001c0014t0001 a0001c0019t0001 a0001c0055t0001 a0001c0057t0004 a0001c0064t0001 a0001c0065t0001 a0001c0073t0001	a0001c0011t0001g0006 a0001c0011t0001g0008 a0001c0011t0001g0011 others(14): Show a0001c0011t0001g0006 a0001c0011t0001g0008 a0001c0011t0001g0011 a0001c0011t0001g0301 a0001c0011t0001g0302 a0001c0011t0001g0338 a0001c0011t0001g0340 a0001c0014t0001g0104 a0001c0019t0001g0021 a0001c0019t0001g0022 a0001c0019t0001g0023 a0001c0019t0001g0339 a0001c0055t0001g0130 a0001c0057t0004g0362 a0001c0064t0001g0233 a0001c0065t0001g0050 a0001c0073t0001g0361	19	370	0.0514	-96	c.244 others(115): Show c.2440+1674_2440+1769delTTACATATATCATATTACATATATCA TATATTACATATATAATATATCATATTACATATATATCATATATTACATA TATAATATATCATATTACAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1107863	AGGGCTGT others(89): Show AGGGCTGTGTCCCACACTGGAGACCCGCACCCCGGGAGGAAGCAGAGGAG GGCTGTGTCCCACACTGGAGACCCGCACCCCGGGAGGAAGCAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	326	0.0031	-96	c.129 others(115): Show c.129+19298_129+19393delCCCTCTGCTTCCTCCCGGGGTGCGGG TCTCCAGTGTGGGACACAGCCCTCCTCTGCTTCCTCCCGGGGTGCGGGTC TCCAGTGTGGGACACAGCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128877	CATCACCC others(89): Show CATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0241 a0001c0001t0005g0241	1	326	0.0031	-96	c.-1- others(111): Show c.-1-1587_-1-1492delAGGGTGGGATGAGCCGAGATGGCGCCACTG CACTCCAGCCCGGGTGACAGGGTGGGATGAGCCGAGATGGCGCCACTGCA CTCCAGCCCGGGTGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128905	CATCTCGG others(89): Show CATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA19007.hp1 HG02735.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0002g0219 a0001c0001t0001g0039 a0001c0001t0002g0219	2	326	0.0061	-96	c.-1- others(111): Show c.-1-1615_-1-1520delCGTGCCACTGCACTCCAGCCCGGGTGACAG GGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACAGGG TGGGATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CABLES1_chr18_23130485_23265470	23218301	CTCCCGCA others(89): Show CTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCT CCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	278	0.0036	-96	c.108 others(115): Show c.1088+4318_1088+4413delGCTCCCGCATCCTCACTTGCCCTGGT TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218372	GCTCCCGC others(89): Show GCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0197 a0001c0001t0009g0197	1	278	0.0036	-96	c.108 others(115): Show c.1088+4342_1088+4437delGTTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218396	GTTCCCGC others(89): Show GTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0013 a0006c0013t0013	a0006c0013t0013g0148 a0006c0013t0013g0148	1	278	0.0036	-96	c.108 others(115): Show c.1088+4343_1088+4438delTTCCCGCATCCTCACTTGCCCTGCCT CCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCC CGCATCCTCACTTGCCCTGC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9			chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218444	CCTCCCGC others(89): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA21309.hp2 HG02135.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0008 a0001c0001t0006 a0002c0002t0008	a0001c0001t0006g0043 a0002c0002t0008g0111 a0001c0001t0006g0043 a0002c0002t0008g0111	2	278	0.0072	-96	c.108 others(115): Show c.1088+4462_1088+4557delCCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218564	CCTCCCGC others(89): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	278	0.0036	-96	c.108 others(115): Show c.1088+4540_1088+4635delGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGCCTCCC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1199383	GCCCACGG others(89): Show GCCCACGGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGC CCACCGTGCGGTCGCTGCATATATGCCCCACCCCCATCATGGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0077 a0077	a0077c0048 a0077c0048	a0077c0048t0016 a0077c0048t0016	a0077c0048t0016g0032 a0077c0048t0016g0032	1	338	0.0030	-96	c.803 others(111): Show c.803+615_803+710delGGTGCGGTCGCTGCACATATGCCCCACCCC CATCATGGCTCCGCCCACCGTGCGGTCGCTGCATATATGCCCCACCCCCA TCATGGCTCCACCCAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54736013	ATATACAC others(89): Show ATATACACATACATATATATATGTATATATATACACATACATATGTATGT ATATATATATACATATATATGTATGTGTATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0074 a0001c0008t0001g0074	1	118	0.0085	-96	c.116 others(117): Show c.1168-16581_1168-16486delCACATACATATATATATGTATATA TATACACATACATATGTATGTATATATATATACATATATATGTATGTGTA TATATATACATATATATGTATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18335709_18548557	18442918	ATATATAT others(89): Show ATATATATGTATATATATATATATGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	302	0.0033	-96	c.171 others(115): Show c.171+40883_171+40978delGTATATATATATATATGTGTATATAT ATATATGTATATATATATGTGTATATATATATATGTATATATATATGTGT ATATATATATATGTATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG8_chr19_53957937_53995215	53962674	AGCGGTGG others(89): Show AGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGATGAC TTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCATCTTATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01346.hp1 others(19): Show HG00642.hp2 HG01074.hp2 HG01346.hp1 HG01934.hp2 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02698.hp2 HG02970.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 NA18951.hp2 NA18952.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA19057.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0001t0024 a0001c0001t0027 a0001c0001t0036 a0001c0001t0048 a0001c0001t0056 a0001c0001t0078 a0001c0001t0112	a0001c0001t0001g0148 a0001c0001t0001g0245 a0001c0001t0002g0001 others(16): Show a0001c0001t0001g0148 a0001c0001t0001g0245 a0001c0001t0002g0001 a0001c0001t0002g0230 a0001c0001t0002g0251 a0001c0001t0004g0130 a0001c0001t0005g0009 a0001c0001t0006g0246 a0001c0001t0014g0213 a0001c0001t0014g0248 a0001c0001t0019g0256 a0001c0001t0024g0115 a0001c0001t0027g0155 a0001c0001t0027g0254 a0001c0001t0036g0082 a0001c0001t0048g0170 a0001c0001t0056g0004 a0001c0001t0078g0001 a0001c0001t0112g0001	22	394	0.0558	-96	c.-46 others(105): Show c.-468_-373delGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGG ATGGTGGGATGACTTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCA TCTTATTTAT	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		262		chr19	TogoVar
CANT1_chr17_78986716_79014764	79004873	GAGTTAAG others(89): Show GAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGCTGG GGGGGAGTTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAGGGAGAT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0235 a0001c0002t0009g0235	1	394	0.0025	-96	c.-14 others(115): Show c.-147+4695_-147+4790delATCTCCCTAACTCCCCCCTCCCTAAC TCCTTGCTCCATAACTCCCCCCCAGCTCCCCTCTCCCTAACTCCCCTCCC TAACTCCCCTCTCCTTAACT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CASZ1_chr1_10631604_10801646	10744344	CGGCACCA others(89): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01981.hp2 HG02109.hp1 HG01433.hp1 HG01981.hp2 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0037 a0001c0001 a0001c0002 a0002c0037	a0001c0001t0006 a0001c0002t0001 a0002c0037t0061 a0001c0001t0006 a0001c0002t0001 a0002c0037t0061	a0001c0001t0006g0233 a0001c0002t0001g0116 a0002c0037t0061g0174 a0001c0001t0006g0233 a0001c0002t0001g0116 a0002c0037t0061g0174	3	236	0.0127	-96	c.-77 others(115): Show c.-77+16261_-77+16356delCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGG ACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CC2D1A_chr19_13901201_13935879	13925932	AAATATAT others(89): Show AAATATATATATATATATATATATATATACACGTATATATATGTGTATAT ATATATACATATATGTGTGTATATATATATATACGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03225.hp1 HG02818.hp1 HG03225.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0002 a0004c0005t0001 a0004c0005t0002	a0004c0005t0001g0067 a0004c0005t0002g0072 a0004c0005t0001g0067 a0004c0005t0002g0072	2	370	0.0054	-96	c.194 others(113): Show c.1941-584_1941-489delAATATATATATATATATATATATATATA CACGTATATATATGTGTATATATATATACATATATGTGTGTATATATATA TATACGTATATATATGTG	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)