Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01069.hp1 others(17): Show HG00621.hp2 HG00642.hp1 HG01069.hp1 HG01192.hp1 HG01261.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02148.hp1 HG03453.hp2 HG03579.hp2 NA18948.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp2 NA18985.hp2 NA19060.hp1 NA19062.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0007g0000	20	452	0.0443	30	c.-38 others(41): Show c.-3847_-3846insTATATATATATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG01361.hp2 others(24): Show HG01192.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG03139.hp1 HG03540.hp2 HG03704.hp1 HG03834.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18973.hp1 NA18978.hp1 NA18994.hp2 NA19054.hp1 NA19066.hp2 NA19075.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008	a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 others(3): Show a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0003g0000 a0001c0002t0008g0000	27	452	0.0597	30	c.-38 others(41): Show c.-3845_-3844insTATATATATATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALN1_chr7_71774491_72417338	71806262	A A	ACACGCAC others(23): Show ACACGCACACACACAAACAAACACACACATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01433.hp2 HG02055.hp1 others(12): Show HG00639.hp1 HG01433.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0037 a0001c0001t0054 a0001c0001t0058 a0001c0001t0059	a0001c0001t0001g0103 a0001c0001t0002g0118 a0001c0001t0003g0065 others(12): Show a0001c0001t0001g0103 a0001c0001t0002g0118 a0001c0001t0003g0065 a0001c0001t0008g0027 a0001c0001t0008g0040 a0001c0001t0008g0067 a0001c0001t0009g0031 a0001c0001t0009g0102 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0017g0035 a0001c0001t0037g0072 a0001c0001t0054g0136 a0001c0001t0058g0139 a0001c0001t0059g0140	15	142	0.1056	30	c.658 others(47): Show c.658+4073_658+4074insCATGTGTGTGTTTGTTTGTGTGTGTGCG TG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG03453.hp1 others(1): Show HG00639.hp2 HG01361.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0042 a0001c0001t0004 a0001c0001t0037 a0001c0001t0042	a0001c0001t0004g0071 a0001c0001t0004g0100 a0001c0001t0037g0072 others(1): Show a0001c0001t0004g0071 a0001c0001t0004g0100 a0001c0001t0037g0072 a0001c0001t0042g0052	4	142	0.0282	30	c.501 others(47): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72081417	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01168.hp2 others(17): Show HG00438.hp1 HG01106.hp2 HG01168.hp2 HG01496.hp1 HG01884.hp2 HG02055.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG03195.hp1 HG06807.hp2 NA18990.hp2 NA19002.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0036 a0001c0001t0044 a0001c0001t0050 a0001c0001t0057	a0001c0001t0001g0047 a0001c0001t0001g0079 a0001c0001t0001g0086 others(17): Show a0001c0001t0001g0047 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0002g0059 a0001c0001t0002g0090 a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0006g0015 a0001c0001t0012g0011 a0001c0001t0016g0081 a0001c0001t0018g0126 a0001c0001t0019g0070 a0001c0001t0030g0020 a0001c0001t0036g0112 a0001c0001t0044g0083 a0001c0001t0050g0131 a0001c0001t0057g0138	20	142	0.1409	30	c.388 others(49): Show c.388+24733_388+24734insGACACACACACACACACACACACACA CACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAAATATA others(23): Show AAAATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03453.hp1 HG02129.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0044 a0001c0001t0037 a0001c0001t0044	a0001c0001t0037g0072 a0001c0001t0044g0083 a0001c0001t0037g0072 a0001c0001t0044g0083	2	142	0.0141	30	c.244 others(49): Show c.244+73134_244+73135insATATATATATATATATATATGTATAT ATTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0072 a0001c0001t0037g0072	1	142	0.0070	30	c.244 others(47): Show c.244+7110_244+7111insATATATATATATATATATTTTTTTTTTT TT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18975.hp2 HG02132.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0024 a0001c0001t0025	a0001c0001t0024g0016 a0001c0001t0025g0014 a0001c0001t0024g0016 a0001c0001t0025g0014	2	142	0.0141	30	c.244 others(47): Show c.244+7110_244+7111insATATATATATATATATATATTTTTTTTT TT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	142	0.0070	30	c.244 others(47): Show c.244+7110_244+7111insATATATATATATATATATATATTTTTTT TT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	142	0.0070	30	c.244 others(47): Show c.244+7110_244+7111insATATATATATATATATATATATATTTTT TT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	142	0.0070	30	c.244 others(47): Show c.244+7110_244+7111insATATATATATATATATATATATATATTT TT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTCTGTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	142	0.0070	30	c.120 others(49): Show c.120-59716_120-59715insGACAGACACACACACACACACACACA CACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12520943	A A	AGGGAGGG others(23): Show AGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02886.hp2 others(3): Show HG02109.hp1 HG02717.hp2 HG02886.hp2 NA18522.hp1 NA18906.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0109 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0109 a0001c0001t0110 a0001c0002t0032 a0001c0002t0044	a0001c0001t0002g0041 a0001c0001t0011g0009 a0001c0001t0109g0161 others(3): Show a0001c0001t0002g0041 a0001c0001t0011g0009 a0001c0001t0109g0161 a0001c0001t0110g0150 a0001c0002t0032g0008 a0001c0002t0044g0112	6	214	0.0280	30	c.93- others(47): Show c.93-32253_93-32252insGGGGAGGGGGAGGGGGAGGGGGAGGGGG AG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12547682	T T	TCTCTCTC others(23): Show TCTCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp2 HG01884.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0044 a0001c0002t0025 a0001c0002t0044	a0001c0002t0025g0029 a0001c0002t0044g0112 a0001c0002t0025g0029 a0001c0002t0044g0112	2	214	0.0094	30	c.93- others(45): Show c.93-5542_93-5541insTCTCTCACACACACACACACACACACACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12547682	T T	TCTCTCTC others(23): Show TCTCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp1 HG02486.hp1 others(3): Show HG01074.hp2 HG01891.hp1 HG02486.hp1 HG02886.hp1 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0071 others(3): Show a0001c0001t0019 a0001c0001t0020 a0001c0001t0071 a0001c0001t0092 a0001c0001t0093 a0001c0001t0104	a0001c0001t0019g0086 a0001c0001t0020g0142 a0001c0001t0071g0121 others(3): Show a0001c0001t0019g0086 a0001c0001t0020g0142 a0001c0001t0071g0121 a0001c0001t0092g0163 a0001c0001t0093g0114 a0001c0001t0104g0089	6	214	0.0280	30	c.93- others(45): Show c.93-5542_93-5541insTCTCTCTCACACACACACACACACACACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(23): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0019 a0001c0002t0054g0019	1	214	0.0047	30	c.565 others(47): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113692685	C C	CATACATA others(23): Show CATACATACATATATTCATACATATTCATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01243.hp2 HG03492.hp2 HG01168.hp1 HG01243.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0066 a0001c0001t0009 a0001c0001t0066	a0001c0001t0009g0214 a0001c0001t0009g0244 a0001c0001t0066g0270 a0001c0001t0009g0214 a0001c0001t0009g0244 a0001c0001t0066g0270	3	278	0.0108	30	c.161 others(49): Show c.161-30943_161-30914dupATATGAATATGTATGAATATATGTAT GTAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01243.hp2 others(6): Show HG00544.hp2 HG00597.hp1 HG01243.hp2 HG02622.hp2 HG03017.hp2 NA18522.hp2 NA18983.hp2 NA19057.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0026 a0001c0001t0030 a0001c0001t0066 a0001c0001t0071 a0001c0001t0077	a0001c0001t0006g0262 a0001c0001t0006g0265 a0001c0001t0007g0172 others(6): Show a0001c0001t0006g0262 a0001c0001t0006g0265 a0001c0001t0007g0172 a0001c0001t0008g0256 a0001c0001t0026g0079 a0001c0001t0030g0220 a0001c0001t0066g0270 a0001c0001t0071g0210 a0001c0001t0077g0238	9	278	0.0324	30	c.161 others(49): Show c.161-48004_161-47975dupATATATATATATATATATATATATAT ATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMKK2_chr12_121232692_121301709	121264004	C C	CAGGTGGG others(23): Show CAGGTGGGATGCCAAAAGGTGGGATGCCAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0316 a0002c0002t0009g0316	1	330	0.0030	30	c.626 others(43): Show c.626-95_626-66dupTTTGGCATCCCACCTTTTGGCATCCCACCT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03471.hp2 HG03704.hp1 others(10): Show HG00438.hp1 HG03471.hp2 HG03704.hp1 HG04228.hp1 HG06807.hp2 NA18943.hp1 NA18954.hp2 NA18959.hp2 NA18966.hp2 NA18968.hp1 NA19064.hp1 NA19065.hp2 NA19081.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0002c0006 others(3): Show a0002c0002 a0002c0004 a0002c0006 a0002c0023 a0002c0026 a0004c0010	a0002c0002t0003 a0002c0004t0002 a0002c0006t0004 others(3): Show a0002c0002t0003 a0002c0004t0002 a0002c0006t0004 a0002c0023t0010 a0002c0026t0002 a0004c0010t0001	a0002c0002t0003g0134 a0002c0004t0002g0049 a0002c0004t0002g0077 others(10): Show a0002c0002t0003g0134 a0002c0004t0002g0049 a0002c0004t0002g0077 a0002c0004t0002g0092 a0002c0004t0002g0238 a0002c0004t0002g0259 a0002c0006t0004g0057 a0002c0006t0004g0059 a0002c0006t0004g0075 a0002c0023t0010g0295 a0002c0026t0002g0294 a0004c0010t0001g0208 a0004c0010t0001g0245	13	330	0.0394	30	c.625 others(45): Show c.625+554_625+555insATATATATATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121268099	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG04184.hp1 HG04204.hp2 HG01358.hp2 HG04184.hp1 HG04204.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0015 a0003c0003t0014 a0001c0001t0015 a0003c0003t0014	a0001c0001t0015g0095 a0001c0001t0015g0096 a0003c0003t0014g0130 a0001c0001t0015g0095 a0001c0001t0015g0096 a0003c0003t0014g0130	3	330	0.0091	30	c.625 others(45): Show c.625+538_625+539insGTATATATATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44580243	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp1 HG02015.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0179 a0001c0001t0001g0089 a0001c0001t0001g0179	2	198	0.0101	30	c.377 others(51): Show c.377-124017_377-124016insATAAAATAAAATAAAATAAAATAA AATAAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	198	0.0051	30	c.377 others(49): Show c.377-89323_377-89322insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847892	G G	GAGGGGGC others(23): Show GAGGGGGCAGGGAAGAGGAGGGGAGTGGGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18612.hp1 NA18960.hp1 others(1): Show HG02602.hp1 NA18612.hp1 NA18960.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0006 a0001c0001t0002 a0001c0011t0006	a0001c0001t0002g0073 a0001c0011t0006g0117 a0001c0011t0006g0126 others(1): Show a0001c0001t0002g0073 a0001c0011t0006g0117 a0001c0011t0006g0126 a0001c0011t0006g0308	4	340	0.0118	30	c.104 others(49): Show c.1045+2244_1045+2245insTCCCCACTCCCCTCCTCTTCCCTGCC CCCT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP3_chr19_7590863_7623304	7614259	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	358	0.0028	30	c.267 others(47): Show c.2671-900_2671-899insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6911517	G G	GTGTTTGA others(23): Show GTGTTTGAGCCATCTCTGTAAATGATCTTCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0009 a0005c0013t0009	a0005c0013t0009g0033 a0005c0013t0009g0033	1	58	0.0172	30	c.234 others(49): Show c.234+86365_234+86394dupTCATGTTTGAGCCATCTCTGTAAATG ATCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7335124	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	58	0.0172	30	c.438 others(49): Show c.438+85514_438+85515insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7602020	G G	GGGAGAGG others(23): Show GGGAGAGGAGGGAGAGGAGGGAGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0009 a0005c0013t0009	a0005c0013t0009g0033 a0005c0013t0009g0033	1	58	0.0172	30	c.511 others(49): Show c.511-38379_511-38378insGAGAGGAGGGAGAGGAGGGAGAGGAG GGAG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND1_chr12_67264358_67324953	67269643	T T	TGGCGGCG others(23): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0147 a0001c0001t0061g0147	1	328	0.0031	30	c.-57 others(37): Show c.-57_-56insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	1/15	56	INFO_REALIGN_3_PRIME	chr12	TogoVar
CANT1_chr17_78986716_79014764	79004897	A A	AGGGGAGT others(23): Show AGGGGAGTTAGGGAGAGGGGATTTAGGGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0232 a0001c0002t0020g0232	1	394	0.0025	30	c.-14 others(49): Show c.-147+4766_-147+4767insCCTCCCTAAATCCCCTCTCCCTAACT CCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp1 HG02155.hp2 others(6): Show HG00280.hp1 HG01243.hp1 HG02155.hp2 HG03098.hp2 NA18522.hp1 NA18906.hp1 NA18962.hp2 NA19004.hp2 NA19059.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0003 a0002c0003t0003 a0003c0002t0020 a0001c0001t0003 a0002c0003t0003 a0003c0002t0020	a0001c0001t0003g0044 a0001c0001t0003g0058 a0001c0001t0003g0059 others(5): Show a0001c0001t0003g0044 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0077 a0002c0003t0003g0029 a0002c0003t0003g0311 a0002c0003t0003g0313 a0003c0002t0020g0060	9	380	0.0237	30	c.721 others(45): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN10_chr2_240581734_240604104	240590567	A A	AAGAGTTC others(23): Show AAGAGTTCTCTGCGACATCCAGGTGTGCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(40): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG02055.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18956.hp1 NA18959.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18989.hp2 NA18991.hp1 NA18998.hp1 NA19002.hp1 NA19043.hp1 NA19074.hp2 NA19085.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0004 a0002c0003t0003 a0002c0003t0004	a0002c0003t0003g0004 a0002c0003t0003g0008 a0002c0003t0003g0026 others(6): Show a0002c0003t0003g0004 a0002c0003t0003g0008 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0044 a0002c0003t0003g0045 a0002c0003t0003g0086 a0002c0003t0003g0088 a0002c0003t0004g0026	43	412	0.1044	30	c.274 others(45): Show c.274-160_274-131dupCGTAGAGTTCTCTGCGACATCCAGGTGTGC	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN10_chr2_240581734_240604104	240590583	A A	ATCCAGGT others(23): Show ATCCAGGTGTGCCGTAGAGTTCTCTGCGACG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0087 a0002c0003t0003g0087	1	412	0.0024	30	c.274 others(45): Show c.274-203_274-202insGTCCAGGTGTGCCGTAGAGTTCTCTGCGAC	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN10_chr2_240581734_240604104	240590642	C C	CATCCAGG others(23): Show CATCCAGGTGTGCCGTAGAGTTCTCTGCGAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03704.hp2 HG01168.hp1 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0040 a0002c0003t0003g0040	2	412	0.0049	30	c.274 others(45): Show c.274-144_274-143insTATCCAGGTGTGCCGTAGAGTTCTCTGCGA	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN12_chr19_38725192_38749474	38735837	G G	GCGGGCGG others(23): Show GCGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0042 a0001c0001t0012g0042	1	342	0.0029	30	c.158 others(47): Show c.1583+272_1583+273insGCCCCCAGAACCCCCGCCCCGCCCCGCC CG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735843	G G	GGGGCGGG others(23): Show GGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	342	0.0029	30	c.158 others(47): Show c.1583+266_1583+267insGCAGAACCACCGCCCCGCCCCGCCCCGC CC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735967	C C	CGGGGCGG others(23): Show CGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0078 a0001c0024t0001g0078	1	342	0.0029	30	c.158 others(47): Show c.1583+142_1583+143insCAGAACCCCCGCCCCGCCCCGCCCCGCC CC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735973	G G	GGGGCGGG others(23): Show GGGGCGGGGCGGGGCGGTGGTTCTGCGGGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03492.hp1 HG01261.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0128 a0001c0001t0001g0086 a0001c0001t0001g0128	2	342	0.0059	30	c.158 others(47): Show c.1583+136_1583+137insTGCCCGCAGAACCACCGCCCCGCCCCGC CC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN14_chr2_31168056_31222515	31210460	C C	CATAAAAT others(23): Show CATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA20129.hp2 HG02647.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0036 a0002c0002 a0001c0036 a0002c0002	a0001c0036t0004 a0002c0002t0012 a0001c0036t0004 a0002c0002t0012	a0001c0036t0004g0293 a0002c0002t0012g0283 a0001c0036t0004g0293 a0002c0002t0012g0283	2	326	0.0061	30	c.-52 others(47): Show c.-52-4991_-52-4962dupTTTATTTTATTTTATTTTATTTTATTTT AT	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	1/21			chr2	TogoVar
CAPN3_chr15_42354501_42417317	42380728	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	306	0.0033	30	c.310 others(47): Show c.310-3731_310-3730insATATATATATATATATATATATATATAT AT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPZA1_chr1_112614832_112676616	112638897	C C	CATAGATA others(23): Show CATAGATATAGATATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0118 a0001c0002t0002g0300 a0001c0001t0001g0118 a0001c0002t0002g0300	2	368	0.0054	30	c.40- others(45): Show c.40-8302_40-8273dupATATAGATATAGATATAGATATAGATATAG	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA1_chr1_112614832_112676616	112638926	A A	ATATAGAT others(23): Show ATATAGATATAGATATAGATATAGATATAGC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0258 a0001c0003t0009g0258	1	368	0.0027	30	c.40- others(45): Show c.40-8273_40-8272insATATAGATATAGATATAGCTATAGATATAG	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18995.hp2 NA19004.hp2 HG00558.hp1 NA18995.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0128 a0001c0001t0001g0232 a0001c0001t0001g0067 a0001c0001t0001g0128 a0001c0001t0001g0232	3	364	0.0082	30	c.330 others(47): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT AT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	364	0.0028	30	c.93+ others(45): Show c.93+2800_93+2801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	3016384	T T	TCATCCTC others(23): Show TCATCCTCATTGCTATACTCCCACCAGTGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0037 a0001c0013 a0001c0037	a0001c0013t0001 a0001c0037t0001 a0001c0013t0001 a0001c0037t0001	a0001c0013t0001g0217 a0001c0037t0001g0271 a0001c0013t0001g0217 a0001c0037t0001g0271	2	322	0.0062	30	c.-12 others(51): Show c.-126+27253_-126+27282dupGGCACTGGTGGGAGTATAGCAATG AGGATG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022935	A A	AATATTTA others(23): Show AATATTTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0275 a0001c0008t0001g0275	1	322	0.0031	30	c.-12 others(51): Show c.-126+20731_-126+20732insATATATATATATATATATATATAT AAATAT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022938	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0062 a0001c0008t0001g0062	1	322	0.0031	30	c.-12 others(51): Show c.-126+20728_-126+20729insTATATATATATATATATATATATA TATATA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80165033	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02602.hp2 HG02896.hp2 others(7): Show HG00741.hp2 HG02602.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG04184.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0003c0010 others(2): Show a0001c0001 a0003c0006 a0003c0010 a0003c0029 a0004c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0003c0006t0008 a0003c0010t0005 a0003c0029t0007 a0004c0003t0001	a0001c0001t0002g0025 a0001c0001t0002g0363 a0001c0001t0004g0026 others(7): Show a0001c0001t0002g0025 a0001c0001t0002g0363 a0001c0001t0004g0026 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0155 a0003c0006t0008g0299 a0003c0010t0005g0055 a0003c0029t0007g0087 a0004c0003t0001g0030	10	376	0.0266	30	c.-57 others(41): Show c.-5713_-5712insATTTTATTTTATTTTATTTTATTTTATTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4996		chr17	TogoVar
CARD19_chr9_93091217_93118283	93115824	G G	GAGACGGG others(23): Show GAGACGGGGTGAGGGAGGGGTGGGGGTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	358	0.0028	30	c.27 others(41): Show c.2717_*2718insAGACGGGGTGAGGGAGGGGTGGGGGTGAGA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2542		chr9	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCTTC others(23): Show TTCTCTTCTCCTCTCCTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18956.hp2 NA18945.hp1 NA18956.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0002 a0001c0008t0001 a0001c0006t0002 a0001c0008t0001	a0001c0006t0002g0106 a0001c0008t0001g0003 a0001c0006t0002g0106 a0001c0008t0001g0003	2	186	0.0108	30	c.614 others(45): Show c.614+205_614+206insTTCTCCTCTCCTCTCCTCTCCTCTCCTCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar

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