Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02300.hp2 HG01258.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0080 a0001c0001t0001g0038 a0001c0001t0001g0080	2	142	0.0141	31	c.244 others(48): Show c.244+7110_244+7111insATATATATATATATATATATATATTTTT TTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12449561	T T	TGATGTAT others(24): Show TGATGTATACATATATCAAAACATCATGTTAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG01261.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0127 a0001c0002t0024g0131 a0001c0002t0024g0127 a0001c0002t0024g0131	2	214	0.0094	31	c.92+ others(48): Show c.92+99712_92+99742dupACGATGTATACATATATCAAAACATCAT GTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12775104	G G	GTGAGAAG others(24): Show GTGAGAAGGCTCAGGCATTGATCAGGTGAGAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0209 a0001c0002t0010g0209	1	214	0.0047	31	c.565 others(48): Show c.565+5308_565+5338dupAGAAGGCTCAGGCATTGATCAGGTGAGA CTG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12775302	G G	GTGAGAAG others(24): Show GTGAGAAGGCTCAGGCATTGATCAGGTGAGAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0038 a0001c0001t0112g0038	1	214	0.0047	31	c.565 others(48): Show c.565+5506_565+5536dupAGAAGGCTCAGGCATTGATCAGGTGAGA CTG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12775863	G G	GTGAGAAG others(24): Show GTGAGAAGGCTCAGGCATTGATCAGGTGAGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0162 a0001c0001t0103g0162	1	214	0.0047	31	c.565 others(48): Show c.565+6067_565+6097dupAGAAGGCTCAGGCATTGATCAGGTGAGA CTG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMTA1_chr1_6780454_7774706	6897473	A A	ATAAGATT others(24): Show ATAAGATTAACACTATGAGAAACCATCTACTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01243.hp1 others(36): Show HG00558.hp2 HG00735.hp1 HG01243.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG02004.hp1 HG02055.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp2 NA18999.hp2 NA19043.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0017 a0002c0004 a0003c0012 a0005c0013 a0006c0007 a0007c0008 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0006t0005 a0001c0010t0004 a0001c0017t0026 a0002c0004t0011 a0002c0004t0018 a0003c0012t0022 a0005c0013t0009 a0006c0007t0014 a0007c0008t0007 a0008c0011t0016	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0003g0022 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0007g0021 a0001c0001t0008g0003 a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0001t0013g0056 a0001c0001t0015g0037 a0001c0001t0021g0014 a0001c0002t0001g0020 a0001c0002t0002g0016 a0001c0002t0003g0006 a0001c0002t0003g0025 a0001c0002t0004g0030 a0001c0002t0006g0008 a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0005g0028 a0001c0003t0008g0032 a0001c0003t0010g0035 a0001c0006t0005g0057 a0001c0010t0004g0031 a0001c0017t0026g0027 a0002c0004t0011g0005 a0002c0004t0018g0015 a0003c0012t0022g0017 a0005c0013t0009g0033 a0006c0007t0014g0018 a0007c0008t0007g0023 a0008c0011t0016g0029	39	58	0.6724	31	c.234 others(50): Show c.234+72265_234+72266insAGATTAACACTATGAGAAACCATCTA CTGTA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0023 a0007c0008t0007g0023	1	58	0.0172	31	c.438 others(50): Show c.438+26678_438+26679insATATATATATATATATTTTTTTTTTT TTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND1_chr12_67264358_67324953	67269967	A A	AACCCCCT others(24): Show AACCCCCTCCCCCCATTCTTTCTCCTGTTGCG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18957.hp2 NA18964.hp2 others(2): Show NA18949.hp2 NA18957.hp2 NA18964.hp2 NA18983.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0016 a0001c0001t0002g0198 a0001c0001t0015g0016 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0198 a0001c0001t0015g0016 a0001c0001t0015g0199	5	328	0.0152	31	c.68+ others(44): Show c.68+207_68+208insGTTGCGACCCCCTCCCCCCATTCTTTCTCCT	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02071.hp2 HG02630.hp2 others(7): Show HG01891.hp1 HG02071.hp2 HG02630.hp2 HG02738.hp2 HG02922.hp1 HG03139.hp1 NA18941.hp1 NA18947.hp1 NA18975.hp1 NA18987.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0003 a0002c0003t0003 a0003c0002t0003 others(1): Show a0001c0001t0003 a0002c0003t0003 a0003c0002t0003 a0003c0002t0023	a0001c0001t0003g0057 a0001c0001t0003g0091 a0001c0001t0003g0102 others(6): Show a0001c0001t0003g0057 a0001c0001t0003g0091 a0001c0001t0003g0102 a0002c0003t0003g0030 a0002c0003t0003g0310 a0003c0002t0003g0046 a0003c0002t0003g0076 a0003c0002t0003g0101 a0003c0002t0023g0056	10	380	0.0263	31	c.721 others(46): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN10_chr2_240581734_240604104	240594824	A A	AGATGATT others(24): Show AGATGATTCTGTCCCAGGAGCCGGAGGAGGGT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	412	0.0024	31	c.997 others(46): Show c.997+138_997+139insAGGAGGGTGATGATTCTGTCCCAGGAGCCG G	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602634	T T	TGGCACCG others(24): Show TGGCACCGCCGCCACTCCCGCCAGGCTCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02723.hp2 others(4): Show HG01891.hp1 HG02145.hp2 HG02723.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0082 a0001c0002t0002g0002 a0001c0002t0002g0016 others(2): Show a0001c0001t0001g0082 a0001c0002t0002g0002 a0001c0002t0002g0016 a0001c0002t0002g0025 a0001c0002t0002g0039	7	412	0.0170	31	c.39 others(42): Show c.3954_*3955insGGCACCGCCGCCACTCCCGCCAGGCTCCTGG	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3531		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602643	T T	TGCCACTC others(24): Show TGCCACTCCCACCAGGCTCCTGGGGCACCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0053 a0001c0012t0002g0053	1	412	0.0024	31	c.39 others(42): Show c.3963_*3964insGCCACTCCCACCAGGCTCCTGGGGCACCGCC	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3540		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602643	T T	TGCCACTC others(24): Show TGCCACTCCCGCCAGGCTCCTGGGGCACCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(195): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18984.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0006 others(16): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0019 a0001c0020 a0002c0003 a0002c0023 a0004c0005 a0008c0013 a0009c0015 a0010c0016 a0011c0025 a0012c0024 a0013c0022 a0014c0021 a0015c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0012t0002 a0001c0019t0001 a0001c0020t0001 a0002c0003t0003 a0002c0023t0001 a0004c0005t0002 a0008c0013t0001 a0009c0015t0001 a0010c0016t0001 a0011c0025t0001 a0012c0024t0001 a0013c0022t0001 a0014c0021t0002 a0015c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0005g0046 a0001c0001t0006g0001 a0001c0002t0001g0009 a0001c0002t0001g0020 a0001c0002t0001g0051 a0001c0002t0002g0002 a0001c0002t0002g0016 a0001c0002t0002g0025 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0084 a0001c0006t0001g0012 a0001c0007t0001g0001 a0001c0007t0001g0060 a0001c0008t0001g0021 a0001c0012t0002g0074 a0001c0019t0001g0001 a0001c0020t0001g0003 a0002c0003t0003g0004 a0002c0003t0003g0027 a0002c0023t0001g0065 a0004c0005t0002g0013 a0004c0005t0002g0029 a0008c0013t0001g0054 a0009c0015t0001g0001 a0010c0016t0001g0001 a0011c0025t0001g0001 a0012c0024t0001g0001 a0013c0022t0001g0001 a0014c0021t0002g0048 a0015c0018t0001g0001	198	412	0.4806	31	c.39 others(42): Show c.3963_*3964insGCCACTCCCGCCAGGCTCCTGGGGCACCGCC	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3540		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602650	C C	CCCGCCAG others(24): Show CCCGCCAGGCTCCTGGGGCACCGCCGCCACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 NA20129.hp2 HG02004.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	412	0.0049	31	c.39 others(42): Show c.3970_*3971insCCGCCAGGCTCCTGGGGCACCGCCGCCACTT	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3547		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602739	C C	CCCACTCC others(24): Show CCCACTCCCGCCAGGCTCCTGGGGCACCGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	412	0.0024	31	c.40 others(42): Show c.4059_*4060insCCACTCCCGCCAGGCTCCTGGGGCACCGCCG	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3636		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602748	T T	TCCAGGCT others(24): Show TCCAGGCTCCTGGGGCACCGCCGCCACTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG02559.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0003 a0001c0002t0002 a0002c0003t0003	a0001c0002t0002g0005 a0002c0003t0003g0028 a0001c0002t0002g0005 a0002c0003t0003g0028	2	412	0.0049	31	c.40 others(42): Show c.4068_*4069insCCAGGCTCCTGGGGCACCGCCGCCACTCCCG	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3645		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602791	G G	GGGCACCG others(24): Show GGGCACCGCCGCCACTCCTGCCAGCCTCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02647.hp1 HG00642.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0078 a0001c0002t0002g0005 a0001c0002t0002g0078	2	412	0.0049	31	c.41 others(42): Show c.4111_*4112insGGCACCGCCGCCACTCCTGCCAGCCTCCTGC	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3688		chr2	TogoVar
CAPN11_chr6_44153820_44189401	44182297	A A	ACACACAC others(24): Show ACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG02015.hp1 others(10): Show HG00280.hp1 HG01069.hp2 HG02015.hp1 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02615.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0003c0003 a0007c0007 others(1): Show a0001c0001 a0003c0003 a0007c0007 a0008c0008	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(3): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0007c0007t0001 a0007c0007t0002 a0008c0008t0002	a0001c0001t0001g0087 a0001c0001t0001g0207 a0003c0003t0001g0108 others(9): Show a0001c0001t0001g0087 a0001c0001t0001g0207 a0003c0003t0001g0108 a0003c0003t0001g0270 a0003c0003t0002g0006 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0333 a0007c0007t0001g0418 a0007c0007t0002g0416 a0008c0008t0002g0273 a0008c0008t0002g0428	13	460	0.0283	31	c.193 others(48): Show c.1939-635_1939-634insTCACATACAGACACAACCACACCACACA CAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544707	C C	CCTCCCCC others(24): Show CCTCCCCCACGTCGCCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	410	0.0024	31	c.-22 others(48): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544811	C C	CCTCCCCC others(24): Show CCTCCCCCACGTCGTCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0398 a0001c0002t0009g0398	1	410	0.0024	31	c.-22 others(48): Show c.-22-1993_-22-1992insTCTCCCCCACGTCGTCGTCTCCCCCACG TCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544867	C C	CCTCCCCA others(24): Show CCTCCCCACGTCGCCTCCCCTCACGTCGTCGT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0217 a0001c0004t0001g0217	1	410	0.0024	31	c.-22 others(48): Show c.-22-1944_-22-1943insACGTCGCCTCCCCTCACGTCGTCGTCTC CCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	549508	G G	GCAGCCTC others(24): Show GCAGCCTCTGACCCCAGCCCCGAAAACAAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0398 a0001c0002t0009g0398	1	410	0.0024	31	c.184 others(46): Show c.1842+39_1842+69dupAGCCTCTGACCCCAGCCCCGAAAACAAGGC C	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	354	0.0028	31	c.40- others(46): Show c.40-7423_40-7393dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CARD14_chr17_80165030_80214331	80196704	A A	AAATGCTA others(24): Show AAATGCTAGAGCTTGGGAGACCCTGGGGAGCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0219 a0004c0003t0001g0219	1	376	0.0027	31	c.159 others(50): Show c.1594+1053_1594+1083dupAATGCTAGAGCTTGGGAGACCCTGGG GAGCC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD8_chr19_48203086_48260912	48220952	G G	GAAAGGAA others(24): Show GAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19005.hp2 HG01167.hp2 NA19005.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0004 a0002c0001t0001 a0002c0001t0004	a0002c0001t0001g0038 a0002c0001t0004g0277 a0002c0001t0001g0038 a0002c0001t0004g0277	2	362	0.0055	31	c.116 others(48): Show c.1161+777_1161+778insTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0177 a0001c0004t0012g0177	1	186	0.0054	31	c.615 others(48): Show c.615-6661_615-6660insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459267	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18945.hp1 HG02135.hp1 NA18945.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0010 a0001c0008t0001 a0001c0008t0010	a0001c0008t0001g0003 a0001c0008t0010g0148 a0001c0008t0001g0003 a0001c0008t0010g0148	2	186	0.0108	31	c.615 others(48): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(24): Show CTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0057 a0002c0004t0001g0057	1	372	0.0027	31	c.105 others(50): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAAAAAA AAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CASP5_chr11_104989243_105028168	105010449	T T	TATTATAC others(24): Show TATTATACTGATATAATAAATCAGTAATTATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 NA20752.hp1 HG00323.hp1 HG00642.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0292 a0001c0001t0001g0293 a0002c0002t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0002c0002t0001g0291	3	396	0.0076	31	c.8-1 others(44): Show c.8-1500_8-1470dupGATAATTACTGATTTATTATATCAGTATAAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASR_chr3_122178668_122296629	122252403	G G	GAAAAAGA others(24): Show GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	314	0.0032	31	c.-24 others(50): Show c.-242-1543_-242-1542insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(24): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0177 a0002c0002t0009g0177	1	392	0.0026	31	c.842 others(46): Show c.842+617_842+618insAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA A	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	398	0.0025	31	c.52 others(42): Show c.5235_*5236insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	336	0.0030	31	c.142 others(50): Show c.1428-1156_1428-1155insATATATATATATATATATATATATTT TTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19240.hp1 HG03490.hp1 NA19240.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0006c0007t0002 a0002c0002t0001 a0006c0007t0002	a0002c0002t0001g0235 a0006c0007t0002g0030 a0002c0002t0001g0235 a0006c0007t0002g0030	2	336	0.0060	31	c.142 others(50): Show c.1428-1156_1428-1155insATATATATATATATATATATATTTTT TTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01358.hp2 HG03831.hp1 others(2): Show HG01109.hp1 HG01358.hp2 HG03831.hp1 NA18995.hp2 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0027 a0002c0002 a0002c0027	a0002c0002t0001 a0002c0027t0001 a0002c0002t0001 a0002c0027t0001	a0002c0002t0001g0103 a0002c0002t0001g0116 a0002c0002t0001g0197 others(2): Show a0002c0002t0001g0103 a0002c0002t0001g0116 a0002c0002t0001g0197 a0002c0002t0001g0266 a0002c0027t0001g0237	5	336	0.0149	31	c.150 others(48): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0014	1	206	0.0049	31	c.264 others(50): Show c.2648+7747_2648+7748insATATATATATATATATTTTTTTTTTT TTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	206	0.0049	31	c.264 others(50): Show c.2648+7747_2648+7748insATATATATATATATTTTTTTTTTTTT TTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19059.hp1 HG02723.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0009 a0001c0001t0003 a0001c0002t0009	a0001c0001t0003g0297 a0001c0002t0009g0261 a0001c0001t0003g0297 a0001c0002t0009g0261	2	342	0.0059	31	c.195 others(48): Show c.195+7707_195+7708insATATATATATATATATATATATTTTTTT TTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01169.hp2 HG02027.hp1 others(1): Show HG00438.hp1 HG01169.hp2 HG02027.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0065 a0001c0001t0002g0210 a0001c0001t0002g0211 others(1): Show a0001c0001t0002g0065 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0003g0291	4	342	0.0117	31	c.195 others(48): Show c.195+7707_195+7708insATATATATATATATATATATTTTTTTTT TTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	342	0.0029	31	c.195 others(48): Show c.195+7707_195+7708insATATATATATATATATATTTTTTTTTTT TTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	31	c.-85 others(40): Show c.-859_-858insCACACACACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG02976.hp1 HG01106.hp1 HG01175.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0244 a0001c0001t0001g0267 a0001c0001t0008g0005 a0001c0001t0001g0244 a0001c0001t0001g0267 a0001c0001t0008g0005	3	298	0.0101	31	c.510 others(48): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFB_chr16_67024149_67106058	67092698	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	212	0.0047	31	c.496 others(48): Show c.496-6010_496-5980dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBL_chr11_119201339_119313149	119283625	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	364	0.0028	31	c.143 others(50): Show c.1432-1314_1432-1313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBS_chr21_43048191_43080835	43057681	T T	TGTTTGAG others(24): Show TGTTTGAGCTGCCTGTAGCTGACCGGGCACCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	2	298	0.0067	31	c.146 others(48): Show c.1467+463_1467+464insGGGTGCCCGGTCAGCTACAGGCAGCTCA AAC	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	15/16			chr21	TogoVar
CBS_chr21_43048191_43080835	43057693	C C	CTGTAGCT others(24): Show CTGTAGCTGACCGGGCACCTGTTTGAGCTGCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01074.hp1 others(17): Show HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG02004.hp2 HG02280.hp1 HG02622.hp1 HG02683.hp2 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03654.hp2 HG03688.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0001c0006t0010 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0010 a0001c0006t0011 a0002c0003t0006	a0001c0001t0001g0053 a0001c0004t0001g0018 a0001c0004t0001g0020 others(13): Show a0001c0001t0001g0053 a0001c0004t0001g0018 a0001c0004t0001g0020 a0001c0004t0001g0052 a0001c0004t0001g0058 a0001c0004t0001g0059 a0001c0004t0001g0061 a0001c0004t0001g0101 a0001c0004t0001g0116 a0001c0006t0010g0082 a0001c0006t0010g0174 a0001c0006t0011g0173 a0002c0003t0006g0015 a0002c0003t0006g0137 a0002c0003t0006g0160 a0002c0003t0006g0161	20	298	0.0671	31	c.146 others(48): Show c.1467+451_1467+452insCGCAGCTCAAACAGGTGCCCGGTCAGCT ACA	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	15/16			chr21	TogoVar
CBS_chr21_43048191_43080835	43057900	T T	TTTGAGCT others(24): Show TTTGAGCTGCCTGTAGGTGACCGGGCACCCGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	298	0.0034	31	c.146 others(48): Show c.1467+244_1467+245insGCGGGTGCCCGGTCACCTACAGGCAGCT CAA	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	15/16			chr21	TogoVar
CC2D2B_chr10_95902975_96038745	96025146	T T	TAAAAAAA others(24): Show TAAAAAAAAAAATATATATATATATATAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	312	0.0032	31	c.394 others(48): Show c.3947+244_3947+245insAATATATATATATATATAAAAAAAAAAA AAA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59547035	A A	AAGAGAGG others(24): Show AAGAGAGGGGGAGAGAGGGGGAGAGAGGGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	242	0.0041	31	c.213 others(50): Show c.213-66798_213-66797insCCCCCCTCTCTCCCCCTCTCTCCCCC TCTCT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59595114	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0166 a0001c0001t0022g0166	1	242	0.0041	31	c.212 others(52): Show c.212+101514_212+101515insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar

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