Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C2CD3_chr11_74007718_74176002	74077771	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	236	0.0042	-26	c.460 others(43): Show c.4603+318_4603+343delTATATATATATATATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74077821	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01192.hp1 others(14): Show HG00423.hp1 HG00673.hp1 HG01192.hp1 HG01975.hp2 HG02145.hp1 HG02451.hp2 HG02723.hp1 HG02922.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 NA18962.hp1 NA18979.hp2 NA19081.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009	a0001c0001 a0002c0003 a0002c0005 others(5): Show a0001c0001 a0002c0003 a0002c0005 a0003c0002 a0005c0006 a0006c0012 a0007c0017 a0009c0011	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(5): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0003c0002t0001 a0005c0006t0001 a0006c0012t0001 a0007c0017t0001 a0009c0011t0001	a0001c0001t0001g0133 a0002c0003t0001g0051 a0002c0003t0001g0167 others(14): Show a0001c0001t0001g0133 a0002c0003t0001g0051 a0002c0003t0001g0167 a0002c0003t0001g0172 a0002c0003t0001g0199 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0005t0001g0093 a0003c0002t0001g0252 a0003c0002t0001g0258 a0003c0002t0001g0259 a0003c0002t0001g0263 a0003c0002t0001g0266 a0005c0006t0001g0022 a0006c0012t0001g0232 a0007c0017t0001g0195 a0009c0011t0001g0077	17	316	0.0538	-26	c.460 others(43): Show c.4603+268_4603+293delAATATATATATATATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117049	TATATATA others(19): Show TATATATATATGAATATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02109.hp1 HG02280.hp1 HG00597.hp2 HG02109.hp1 HG02280.hp1	a0003 a0007 a0022 a0003 a0007 a0022	a0003c0002 a0007c0017 a0022c0032 a0003c0002 a0007c0017 a0022c0032	a0003c0002t0001 a0007c0017t0001 a0022c0032t0001 a0003c0002t0001 a0007c0017t0001 a0022c0032t0001	a0003c0002t0001g0253 a0007c0017t0001g0194 a0022c0032t0001g0176 a0003c0002t0001g0253 a0007c0017t0001g0194 a0022c0032t0001g0176	3	314	0.0096	-26	c.152 others(45): Show c.1520+1153_1520+1178delTCATATATATATATTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74150501	AAAAAAAA others(19): Show AAAAAAAAAAAAAAACAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0011 a0002c0028t0001g0011	1	316	0.0032	-26	c.484 others(45): Show c.484-10699_484-10674delGTTTTTTTTTTGTTTTTTTTTTTTTT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	404035	GGGACGGG others(19): Show GGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA19240.hp1 NA18950.hp2 NA19240.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0008 a0001c0002 a0010c0008	a0001c0002t0011 a0010c0008t0040 a0001c0002t0011 a0010c0008t0040	a0001c0002t0011g0007 a0010c0008t0040g0064 a0001c0002t0011g0007 a0010c0008t0040g0064	2	320	0.0063	-26	c.30 others(37): Show c.3035_*3060delACACCCCTCAGGGCAGGACCCCGTCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1409		chr19	TogoVar
C2CD4C_chr19_400445_414147	404130	GGGACGGG others(19): Show GGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0007 a0001c0002t0011g0007	1	319	0.0031	-26	c.29 others(37): Show c.2940_*2965delACACCCCTCAGGGCAGGACCCCGTCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1314		chr19	TogoVar
C2CD4C_chr19_400445_414147	404257	GGACGGGT others(19): Show GGACGGGTCCTGTCCTGAGGGGTCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 NA18950.hp2 HG03225.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0107 a0001c0002t0011 a0001c0001t0107 a0001c0002t0011	a0001c0001t0107g0088 a0001c0002t0011g0007 a0001c0001t0107g0088 a0001c0002t0011g0007	2	320	0.0063	-26	c.28 others(37): Show c.2813_*2838delTCAGACCCCTCAGGACAGGACCCGTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1187		chr19	TogoVar
C2CD4C_chr19_400445_414147	404483	GGCACGGG others(19): Show GGCACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	299	0.0033	-26	c.25 others(37): Show c.2587_*2612delACACCCCTCAGGGCAGGACCCCGTGC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		961		chr19	TogoVar
C2CD4C_chr19_400445_414147	404514	GGGACGGG others(19): Show GGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0040 a0010c0008t0040	a0010c0008t0040g0064 a0010c0008t0040g0064	1	315	0.0032	-26	c.25 others(37): Show c.2556_*2581delACACCCCTCAGGGCAGGACCCCGTCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		930		chr19	TogoVar
C2CD6_chr2_201482421_201624178	201515201	AGTTTTTT others(19): Show AGTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp1 HG02258.hp2 others(2): Show HG00423.hp2 HG01109.hp1 HG02258.hp2 HG03516.hp1 NA19070.hp2	a0001 a0008 a0020 others(1): Show a0001 a0008 a0020 a0031	a0001c0001 a0008c0008 a0020c0024 others(1): Show a0001c0001 a0008c0008 a0020c0024 a0031c0017	a0001c0001t0001 a0008c0008t0001 a0020c0024t0001 others(1): Show a0001c0001t0001 a0008c0008t0001 a0020c0024t0001 a0031c0017t0001	a0001c0001t0001g0120 a0008c0008t0001g0010 a0008c0008t0001g0012 others(2): Show a0001c0001t0001g0120 a0008c0008t0001g0010 a0008c0008t0001g0012 a0020c0024t0001g0102 a0031c0017t0001g0266	5	117	0.0427	-26	c.150 others(47): Show c.1507-19258_1507-19233delAAAAAAAAAAAAAAAAAAAAAAAA AC	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	13/15			chr2	TogoVar
C2CD6_chr2_201482421_201624178	201523764	GAGCTGAA others(19): Show GAGCTGAAAGACAAAATAGTCATTTTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp2 HG00639.hp1 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0214 a0002c0002t0001g0211 a0002c0002t0001g0214	2	268	0.0075	-26	c.150 others(47): Show c.1506+12231_1506+12256delTAAAATGACTATTTTGTCTTTCAG CT	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	13/15			chr2	TogoVar
C2CD6_chr2_201482421_201624178	201581546	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG03098.hp2 HG02630.hp2 HG02818.hp1 HG03098.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0014 a0002c0002 a0012c0014	a0002c0002t0001 a0012c0014t0001 a0002c0002t0001 a0012c0014t0001	a0002c0002t0001g0127 a0012c0014t0001g0128 a0012c0014t0001g0129 a0002c0002t0001g0127 a0012c0014t0001g0128 a0012c0014t0001g0129	3	146	0.0205	-26	c.639 others(41): Show c.639+523_639+548delTATATATATATATATATATATATACA	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	5/15			chr2	TogoVar
C2orf50_chr2_11128128_11156317	11132997	TCACACAC others(19): Show TCACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA18522.hp2 HG01496.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0050 a0001c0001t0015g0051 a0001c0001t0015g0050 a0001c0001t0015g0051	2	74	0.0270	-26	c.-33 others(35): Show c.-337_-312delCACACACACACACACACACACACACA	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding		130		chr2	TogoVar
C2orf78_chr2_73779183_73822148	73807142	TGCCCTCC others(19): Show TGCCCTCCAGCCTGGGTGACAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp1 HG02717.hp1 NA19030.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0039 a0002c0005t0001g0040 a0002c0005t0001g0039 a0002c0005t0001g0040	2	210	0.0095	-26	c.98- others(41): Show c.98-6333_98-6308delCCCTCCAGCCTGGGTGACAGAGAGAG	C2orf78	ENSG00000187833.8	transcript	ENST00000409561.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf92_chr2_97664713_97708066	97665719	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG03669.hp1 HG01168.hp2 HG01169.hp2 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0069 a0002c0002t0001g0008 a0002c0002t0001g0069	3	297	0.0101	-26	c.-40 others(37): Show c.-4069_-4044delTCTCTCTCTCTCTCTCTCTATATATA	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding		3993		chr2	TogoVar
C2orf92_chr2_97664713_97708066	97665721	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA19086.hp2 NA18956.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0040 a0002c0002t0001g0041	2	286	0.0070	-26	c.-40 others(37): Show c.-4067_-4042delTCTCTCTCTCTCTCTCTATATATATA	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding		3991		chr2	TogoVar
C2orf92_chr2_97664713_97708066	97665723	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 NA19084.hp2 HG01123.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0063 a0002c0002t0001g0008 a0002c0002t0001g0063	2	280	0.0071	-26	c.-40 others(37): Show c.-4065_-4040delTCTCTCTCTCTCTCTATATATATATA	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding		3989		chr2	TogoVar
C2orf92_chr2_97664713_97708066	97665727	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG03710.hp2 HG01358.hp1 HG03710.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0051 a0004c0004t0001g0081 a0002c0002t0001g0051 a0004c0004t0001g0081	2	281	0.0071	-26	c.-40 others(37): Show c.-4061_-4036delTCTCTCTCTCTATATATATATATATA	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding		3985		chr2	TogoVar
C3orf20_chr3_14670141_14778036	14673380	CAGCTACT others(19): Show CAGCTACTCAGGAGGCTGAGGCAGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0370 a0002c0002t0001g0370	1	378	0.0026	-26	c.-21 others(37): Show c.-2170_-2145delAGCTACTCAGGAGGCTGAGGCAGGAG	C3orf20	ENSG00000131379.10	transcript	ENST00000253697.8	protein_coding		1760		chr3	TogoVar
C4orf48_chr4_2036995_2048964	2038237	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	87	0.0115	-26	c.-38 others(37): Show c.-3856_-3831delTATATATATATATATATATATATATA	C4orf48	ENSG00000243449.8	transcript	ENST00000409248.10	protein_coding		3757		chr4	TogoVar
C5orf24_chr5_134840968_134864735	134848020	ATGTGGCT others(19): Show ATGTGGCTTGGGACCGGTCGCGGTGGC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	400	0.0025	-26	c.-4+ others(41): Show c.-4+1815_-4+1840delTTGGGACCGGTCGCGGTGGCTGTGGC	C5orf24	ENSG00000181904.9	transcript	ENST00000394976.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968586	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19087.hp2 HG03540.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0065 a0001c0001t0004g0229 a0001c0001t0002g0065 a0001c0001t0004g0229	2	297	0.0067	-26	c.188 others(45): Show c.1882+3715_1882+3740delATATATATATATATTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968588	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG01361.hp1 others(3): Show HG00735.hp2 HG01346.hp1 HG01361.hp1 HG02055.hp2 HG02723.hp1 HG03225.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0006 a0007c0007 a0001c0001 a0006c0006 a0007c0007	a0001c0001t0002 a0006c0006t0006 a0007c0007t0006 a0001c0001t0002 a0006c0006t0006 a0007c0007t0006	a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 others(3): Show a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0275 a0006c0006t0006g0106 a0007c0007t0006g0360	6	340	0.0176	-26	c.188 others(45): Show c.1882+3717_1882+3742delATATATATATATTTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf33_chr7_148585766_148620860	148595585	CTATATTA others(19): Show CTATATTATATAGATATACATATTATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG02976.hp1 others(2): Show HG02723.hp1 HG02965.hp2 HG02976.hp1 HG03453.hp1 NA18522.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0005 a0004c0005t0001	a0001c0001t0001g0390 a0001c0001t0002g0356 a0001c0001t0004g0354 others(2): Show a0001c0001t0001g0390 a0001c0001t0002g0356 a0001c0001t0004g0354 a0002c0002t0005g0353 a0004c0005t0001g0355	5	442	0.0113	-26	c.204 others(43): Show c.204+4468_204+4493delGATATACATATTATATATATTATATA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148595619	TATATAAT others(19): Show TATATAATATACATCTATATTATATAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02615.hp1 others(2): Show HG01891.hp2 HG02145.hp2 HG02615.hp1 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0002g0147 a0001c0001t0002g0149 others(2): Show a0001c0001t0001g0148 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151	5	442	0.0113	-26	c.204 others(43): Show c.204+4501_204+4526delCATCTATATTATATAGATATAATATA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148595630	CATCTATA others(19): Show CATCTATATTATATAGATATAATATAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00597.hp2 others(126): Show HG00323.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18960.hp2 NA18963.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18978.hp1 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0003c0008 a0003c0009 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0004t0004 a0002c0002t0005 a0003c0003t0001 a0003c0003t0002 a0003c0008t0002 a0003c0009t0001 a0004c0005t0006 a0004c0005t0009	a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 others(113): Show a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0001g0146 a0001c0001t0001g0175 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0350 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0094 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0344 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0386 a0001c0001t0004g0387 a0001c0001t0004g0388 a0001c0004t0001g0038 a0001c0004t0001g0294 a0001c0004t0004g0324 a0001c0004t0004g0325 a0002c0002t0005g0004 a0002c0002t0005g0062 a0002c0002t0005g0095 a0002c0002t0005g0348 a0002c0002t0005g0391 a0002c0002t0005g0392 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0002g0015 a0003c0003t0002g0097 a0003c0003t0002g0100 a0003c0003t0002g0103 a0003c0008t0002g0098 a0003c0009t0001g0099 a0004c0005t0006g0339 a0004c0005t0009g0338	129	423	0.3050	-26	c.204 others(43): Show c.204+4548_204+4573delATATAGATCTATATTATATAGATATA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598741	TATATATA others(19): Show TATATATATATATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	441	0.0023	-26	c.204 others(43): Show c.204+7614_204+7639delTATATATATATATATATATATAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598743	TATATATA others(19): Show TATATATATATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18967.hp1 NA19004.hp2 HG02523.hp2 NA18967.hp1 NA19004.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0006c0007t0002 a0001c0001t0002 a0006c0007t0002	a0001c0001t0002g0001 a0001c0001t0002g0308 a0006c0007t0002g0001 a0001c0001t0002g0001 a0001c0001t0002g0308 a0006c0007t0002g0001	3	441	0.0068	-26	c.204 others(43): Show c.204+7616_204+7641delTATATATATATATATATATAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598745	TATATATA others(19): Show TATATATATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18954.hp1 NA19009.hp1 HG00438.hp2 NA18954.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0201 a0001c0001t0002g0001 a0001c0001t0002g0201	3	442	0.0068	-26	c.204 others(43): Show c.204+7618_204+7643delTATATATATATATATATAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598747	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0004 a0002c0002t0005g0004	1	437	0.0023	-26	c.204 others(43): Show c.204+7620_204+7645delTATATATATATATATAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598749	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0294 a0001c0004t0001g0294	1	434	0.0023	-26	c.204 others(43): Show c.204+7622_204+7647delTATATATATATATAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598753	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp1 HG02818.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0005 a0001c0001t0004 a0002c0002t0005	a0001c0001t0004g0347 a0002c0002t0005g0353 a0001c0001t0004g0347 a0002c0002t0005g0353	2	423	0.0047	-26	c.204 others(43): Show c.204+7626_204+7651delTATATATATAGAGAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598755	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	408	0.0025	-26	c.204 others(43): Show c.204+7628_204+7653delTATATATAGAGAGAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598759	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	369	0.0027	-26	c.204 others(43): Show c.204+7632_204+7657delTATAGAGAGAGAGAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598763	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	238	0.0042	-26	c.204 others(43): Show c.204+7662_204+7687delGAGAGAGAGAGAGAGAGAGAGAGAGA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf50_chr7_992006_1143247	1016304	TAGCAGCA others(19): Show TAGCAGCACAGCAGCACACAGCAGCAC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0104 a0001c0001t0001g0106	2	193	0.0104	-26	c.130 others(43): Show c.130-6187_130-6162delGTGCTGCTGTGTGCTGCTGTGCTGCT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf88_chr8_90953471_90990238	90956943	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01070.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	133	0.0150	-26	c.20 others(37): Show c.2038_*2063delACACACACACACACACACACACACAC	C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding		1527		chr8	TogoVar
CA10_chr17_51625320_52163714	51754400	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00741.hp2 others(27): Show HG00408.hp1 HG00438.hp2 HG00741.hp2 HG01074.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01884.hp1 HG02056.hp1 HG02145.hp1 HG02273.hp2 HG02622.hp2 HG03139.hp2 HG03492.hp1 HG03579.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18964.hp1 NA18968.hp2 NA18982.hp2 NA19000.hp1 NA19000.hp2 NA19058.hp2 NA19062.hp2 NA19078.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0091 others(27): Show a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0125 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0111 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0143 a0001c0001t0003g0042 a0001c0001t0003g0090 a0001c0001t0003g0137 a0001c0001t0007g0004 a0001c0001t0009g0102 a0001c0001t0012g0156 a0001c0002t0001g0006 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0094 a0001c0002t0001g0115	30	38	0.7895	-26	c.280 others(43): Show c.280-6608_280-6583delATATATATATATATATATATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp1 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0050 a0001c0001t0004g0009 a0001c0001t0002g0050 a0001c0001t0004g0009	2	27	0.0741	-26	c.279 others(45): Show c.279+52135_279+52160delATATATATATATATATATATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA5B_chrX_15733270_15793411	15747899	AGAGAGGA others(19): Show AGAGAGGAGAGCAGCTCTTTCTCTTGC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0041	1	266	0.0038	-26	c.-53 others(43): Show c.-53-2054_-53-2029delTTCTCTTGCGAGAGGAGAGCAGCTCT	CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
CAB39L_chr13_49303650_49449064	49329544	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02257.hp1 HG03516.hp2 others(12): Show HG02071.hp2 HG02257.hp1 HG03516.hp2 NA18942.hp1 NA18948.hp2 NA18973.hp2 NA18983.hp1 NA18995.hp1 NA18999.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19078.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0005	a0001c0001t0002g0141 a0001c0001t0002g0285 a0001c0001t0002g0300 others(12): Show a0001c0001t0002g0141 a0001c0001t0002g0285 a0001c0001t0002g0300 a0001c0001t0005g0003 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0117 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0183 a0001c0001t0005g0213 a0001c0001t0005g0233 a0001c0001t0010g0056 a0001c0002t0005g0201	15	184	0.0815	-26	c.834 others(43): Show c.834+2377_834+2402delATATATATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CABIN1_chr22_24006304_24183628	24011127	ACGCACAC others(19): Show ACGCACACGCGCACGCGCGCACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03195.hp1 HG02818.hp1 HG03195.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0248 a0003c0005t0001g0249	2	259	0.0077	-26	c.-31 others(35): Show c.-314_-289delCGCACACGCGCACGCGCGCACACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		176		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011135	GCGCACGC others(19): Show GCGCACGCGCGCACACACGCGCACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 NA19240.hp1 NA20129.hp1 others(1): Show HG03225.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007	4	262	0.0153	-26	c.-30 others(35): Show c.-306_-281delCGCACGCGCGCACACACGCGCACACA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		168		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24126463	TTGGTGTG others(19): Show TTGGTGTGACTAGAATCTGCTGGAAGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02818.hp2 HG03225.hp1 others(5): Show HG00438.hp1 HG02818.hp2 HG03225.hp1 HG03654.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0011 a0014 a0001 a0011 a0014	a0001c0001 a0001c0004 a0001c0014 others(2): Show a0001c0001 a0001c0004 a0001c0014 a0011c0034 a0014c0029	a0001c0001t0001 a0001c0004t0001 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0014t0001 a0011c0034t0001 a0014c0029t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0004t0001g0194 a0001c0014t0001g0143 a0011c0034t0001g0119 a0014c0029t0001g0219	8	266	0.0301	-26	c.463 others(45): Show c.4632+6883_4632+6908delATCTGCTGGAAGCTGGTGTGACTAGA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23171578	TTTCTCCT others(19): Show TTTCTCCTTGAGATCTTTAGGAATCTG	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0138 a0001c0001t0014g0138	1	276	0.0036	-26	c.846 others(45): Show c.846-17259_846-17234delTTCTCCTTGAGATCTTTAGGAATCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9			chr18	TogoVar
CABLES1_chr18_23130485_23265470	23177418	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0128 a0001c0001t0017g0128	1	46	0.0217	-26	c.846 others(45): Show c.846-11409_846-11384delACACACACACACACACACACACACAC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACHD1_chr1_64465129_64698053	64466429	TATATATA others(19): Show TATATATACACATATGTATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0033 a0001c0003t0003g0033	1	126	0.0079	-26	c.-43 others(37): Show c.-4315_-4290delATATATACACATATGTATATATACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3699		chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13346646	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp2 HG04115.hp1 HG04115.hp2	a0007 a0011 a0007 a0011	a0007c0012 a0011c0025 a0007c0012 a0011c0025	a0007c0012t0002 a0011c0025t0001 a0007c0012t0002 a0011c0025t0001	a0007c0012t0002g0120 a0011c0025t0001g0030 a0007c0012t0002g0120 a0011c0025t0001g0030	2	198	0.0101	-26	c.979 others(45): Show c.979-10763_979-10738delAAAAAATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346648	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	208	0.0048	-26	c.979 others(45): Show c.979-10765_979-10740delAAAAAAAATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402873	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	93	0.0108	-26	c.540 others(45): Show c.540-31120_540-31095delATATATATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar

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