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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0169 a0001c0001t0021g0169	1	246	0.0041	33	c.115 others(50): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CABLES2_chr20_62383634_62412285	62398089	C C	CGGTGGTG others(26): Show CGGTGGTGGTGACGGTGGTGGTGGTGGTGATGGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0187	1	170	0.0059	33	c.363 others(50): Show c.363-1498_363-1497insACCATCACCACCACCACCACCGTCACCA CCACC		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13325032	T T	TTCCTCTT others(26): Show TTCCTCTTCTTCTTCCTCTTCCCCTTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0013 a0013	a0013c0048 a0013c0048	a0013c0048t0001 a0013c0048t0001	a0013c0048t0001g0140 a0013c0048t0001g0140	1	185	0.0054	33	c.134 others(52): Show c.1345+5179_1345+5211dupGGAAGGGGAAGGGGAAGAGGAAGAAG AAGAGGA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13325065	C C	CTCCTCCT others(26): Show CTCCTCCTCTTCTTCTTCCTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18522.hp2 HG03139.hp2 NA18522.hp2	a0003 a0003	a0003c0039 a0003c0084 a0003c0039 a0003c0084	a0003c0039t0001 a0003c0084t0002 a0003c0039t0001 a0003c0084t0002	a0003c0039t0001g0074 a0003c0084t0002g0141 a0003c0039t0001g0074 a0003c0084t0002g0141	2	216	0.0093	33	c.134 others(52): Show c.1345+5178_1345+5179insAGGGGAAGGGGAAGAGGAAGAAGAAG AGGAGGA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510056	A A	AGGGAGGG others(26): Show AGGGAGGGAGGGAGGGAGGGGGGAGGGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02723.hp2 HG02258.hp2 HG02559.hp2 HG02723.hp2	a0001 a0005 a0031 a0001 a0005 a0031	a0001c0071 a0005c0024 a0031c0059 a0001c0071 a0005c0024 a0031c0059	a0001c0071t0003 a0005c0024t0001 a0031c0059t0007 a0001c0071t0003 a0005c0024t0001 a0031c0059t0007	a0001c0071t0003g0138 a0005c0024t0001g0214 a0031c0059t0007g0001 a0001c0071t0003g0138 a0005c0024t0001g0214 a0031c0059t0007g0001	3	45	0.0667	33	c.-38 others(44): Show c.-3833_-3832insCCCTCCCCCCTCCCCCCTCCCTCCCTCCCTCCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3578		chr19	TogoVar
CACNA1D_chr3_53489611_53818733	53543092	A A	AAAAAAAA others(26): Show AAAAAAAAACTTAAAGTATAATAATAATAAAATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0111 a0001c0002t0019g0111	1	208	0.0048	33	c.483 others(52): Show c.483+41380_483+41381insCTTAAAGTATAATAATAATAAAATTA AAAAAAA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0070 a0001c0001t0045 a0001c0001t0070	a0001c0001t0045g0119 a0001c0001t0070g0033 a0001c0001t0045g0119 a0001c0001t0070g0033	2	15	0.1333	33	c.122 others(52): Show c.1220+8580_1220+8581insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53691674	G G	GTAATATA others(26): Show GTAATATATATATTACAGATATATATTACATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG03017.hp1 others(3): Show HG02559.hp2 HG02717.hp2 HG03017.hp1 HG03453.hp1 HG03688.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0001c0017	a0001c0001t0001 a0001c0002t0007 a0001c0002t0027 others(3): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0027 a0001c0002t0059 a0001c0012t0027 a0001c0017t0017	a0001c0001t0001g0002 a0001c0002t0007g0158 a0001c0002t0027g0186 others(3): Show a0001c0001t0001g0002 a0001c0002t0007g0158 a0001c0002t0027g0186 a0001c0002t0059g0144 a0001c0012t0027g0193 a0001c0017t0017g0112	6	206	0.0291	33	c.122 others(54): Show c.1221-10954_1221-10953insACAGATATATATTACATATATAAT ATATATATT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1H_chr16_1148106_1226768	1220791	A A	AGTGTGAC others(26): Show AGTGTGACCCCAGAATCCAGAGCTTCCTCTTCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01074.hp1 HG01074.hp1	a0032 a0032	a0032c0089 a0032c0089	a0032c0089t0005 a0032c0089t0005	a0032c0089t0005g0262 a0032c0089t0005g0262	1	336	0.0030	33	c.686 others(42): Show c.6861_6893dupTGTGACCCCAGAATCCAGAGCTTCCTCTTCAGG	p.Gly others(48): Show p.Gly2298_Ala2299insValThrProGluSerArgAlaSerSerSer Gly	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	35/35	7277/8219	6894/7062	2298/2353		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGGGGG others(26): Show TGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01975.hp1 others(12): Show HG01243.hp1 HG01884.hp2 HG01975.hp1 HG02055.hp2 HG02109.hp2 HG02615.hp2 HG02809.hp2 HG02965.hp2 HG03471.hp1 NA18522.hp2 NA18964.hp2 NA19011.hp2 NA19012.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0018	a0001c0001 a0001c0002 a0001c0030 others(4): Show a0001c0001 a0001c0002 a0001c0030 a0002c0013 a0003c0008 a0006c0012 a0018c0045	a0001c0001t0005 a0001c0001t0008 a0001c0002t0004 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0002t0004 a0001c0030t0004 a0002c0013t0012 a0003c0008t0006 a0006c0012t0005 a0018c0045t0002	a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0005g0119 others(12): Show a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0125 a0001c0001t0008g0008 a0001c0001t0008g0131 a0001c0001t0008g0139 a0001c0002t0004g0187 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0030t0004g0138 a0002c0013t0012g0137 a0003c0008t0006g0124 a0006c0012t0005g0120 a0018c0045t0002g0223	15	163	0.0920	33	c.237 others(50): Show c.237-1935_237-1934insGGGGGCAGGGCGGAGAGAGATGGGGGGG CAGGG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601903	C C	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0124 a0003c0008t0006g0124	1	219	0.0046	33	c.482 others(50): Show c.482+1251_482+1252insTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTT		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTGTGTGGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	82	0.0122	33	c.204 others(52): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGGCGCGC GCGCGCG		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0085 a0001c0041t0001g0085	1	45	0.0222	33	c.138 others(52): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55033807	G G	GTATTATA others(26): Show GTATTATATATTAAATATATTTTTATATAATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02922.hp1 HG02976.hp2 others(2): Show HG01169.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0010 others(2): Show a0001c0002 a0001c0007 a0001c0010 a0001c0021 a0001c0032	a0001c0002t0001 a0001c0007t0001 a0001c0010t0001 others(2): Show a0001c0002t0001 a0001c0007t0001 a0001c0010t0001 a0001c0021t0002 a0001c0032t0001	a0001c0002t0001g0020 a0001c0007t0001g0044 a0001c0010t0001g0065 others(2): Show a0001c0002t0001g0020 a0001c0007t0001g0044 a0001c0010t0001g0065 a0001c0021t0002g0023 a0001c0032t0001g0048	5	80	0.0625	33	c.298 others(54): Show c.2987+15511_2987+15512insTTATATAATATATATTATATATTA AATATATTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55033852	T T	TAAATATA others(26): Show TAAATATATTTAATATGTAATATATATTACATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG04115.hp2 HG04204.hp1 others(2): Show HG00099.hp2 HG04115.hp2 HG04204.hp1 NA18951.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0015t0001	a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0003t0001g0112 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0003t0001g0112 a0001c0004t0001g0050 a0001c0015t0001g0108	5	116	0.0431	33	c.298 others(54): Show c.2987+15550_2987+15551insGTAATATATATTACATAAAAATAT ATTTAATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	140	0.0071	33	c.114 others(48): Show c.1140+77_1140+78insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703765	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	206	0.0049	33	c.-11 others(44): Show c.-1190_-1189insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					14		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703777	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0185 a0001c0001t0025g0185	1	210	0.0048	33	c.-12 others(44): Show c.-1202_-1201insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					26		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703779	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0188 a0001c0001t0098g0188	1	201	0.0050	33	c.-12 others(44): Show c.-1204_-1203insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					28		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703781	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0191 a0001c0001t0093g0191	1	207	0.0048	33	c.-12 others(44): Show c.-1206_-1205insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					30		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703801	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0178 a0001c0001t0008g0178	1	99	0.0101	33	c.-12 others(44): Show c.-1226_-1225insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					50		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706197	C C	CCTTCTTC others(26): Show CCTTCTTCTTCTTCTCCCTCTTCTTTTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03041.hp1 HG01884.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0065 a0001c0001t0022 a0001c0001t0065	a0001c0001t0022g0132 a0001c0001t0065g0133 a0001c0001t0022g0132 a0001c0001t0065g0133	2	18	0.1111	33	c.-36 others(44): Show c.-3622_-3621insAAGAAGAAAAAGAAGAGGGAGAAGAAGAAGAAG		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					2446		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(26): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02451.hp1 others(6): Show HG01884.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02886.hp2 HG02922.hp1 NA19003.hp2 NA19084.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 others(5): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0050 a0001c0001t0062 a0001c0001t0064 a0001c0001t0084 a0001c0001t0090	a0001c0001t0009g0111 a0001c0001t0009g0121 a0001c0001t0011g0103 others(6): Show a0001c0001t0009g0111 a0001c0001t0009g0121 a0001c0001t0011g0103 a0001c0001t0021g0118 a0001c0001t0050g0095 a0001c0001t0062g0116 a0001c0001t0064g0117 a0001c0001t0084g0179 a0001c0001t0090g0200	9	52	0.1731	33	c.-36 others(44): Show c.-3651_-3650insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					2475		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24314733	G G	GCCTCCTC others(26): Show GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	135	0.0074	33	c.212 others(52): Show c.212-31995_212-31963dupTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCC		CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0185 a0001c0001t0025g0185	1	173	0.0058	33	c.545 others(48): Show c.545-745_545-744insAAAAAAAAAAAAAAATATATATATATATAT ATA		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906069	C C	CCTTCTTC others(26): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	358	0.0028	33	c.-34 others(44): Show c.-3478_-3477insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding					3208		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906081	C C	CCTTCTTC others(26): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	274	0.0036	33	c.-34 others(44): Show c.-3466_-3465insCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTT		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding					3196		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(26): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	124	0.0081	33	c.-34 others(44): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTT		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding					3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(26): Show CCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	124	0.0081	33	c.-34 others(44): Show c.-3463_-3462insCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding					3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTTCTTC others(26): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02723.hp2 HG01069.hp1 HG01071.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0231 a0001c0001t0001g0266 a0001c0001t0001g0269	3	126	0.0238	33	c.-34 others(44): Show c.-3463_-3462insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding					3193		chr19	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	37	0.0270	33	c.62- others(52): Show c.62-366855_62-366854insATATATATATATATATATATATATAT ATTTTTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19064.hp1 HG03130.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0035 a0001c0001t0023 a0001c0001t0035	a0001c0001t0023g0006 a0001c0001t0035g0036 a0001c0001t0023g0006 a0001c0001t0035g0036	2	38	0.0526	33	c.62- others(52): Show c.62-366855_62-366854insATATATATATATATATATATATATAT TTTTTTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315298	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0102 a0001c0002t0004g0102	1	105	0.0095	33	c.48 others(44): Show c.4866_*4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding					3112		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122706286	A A	AATATATA others(26): Show AATATATATATATATGCTTATATATTCAAGGAAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03139.hp2 HG02132.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0009 a0001c0003 a0003c0009	a0001c0003t0002 a0003c0009t0006 a0001c0003t0002 a0003c0009t0006	a0001c0003t0002g0023 a0003c0009t0006g0122 a0001c0003t0002g0023 a0003c0009t0006g0122	2	46	0.0435	33	c.453 others(52): Show c.453+30668_453+30669insATTCCTTGAATATATAAGCATATATA TATATAT		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29						chr7	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	31	0.0323	33	c.-18 others(44): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding					1779		chr16	TogoVar
CALB2_chr16_71353723_71395433	71366024	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	138	0.0072	33	c.95- others(48): Show c.95-6109_95-6108insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0305 a0003c0002t0001g0305	1	33	0.0303	33	c.912 others(50): Show c.912+1385_912+1386insATATATATATATATATATATATATATTT TTTTT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48857497	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0235 a0003c0002t0001g0235	1	17	0.0588	33	c.100 others(52): Show c.1008+1333_1008+1334insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(26): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0022	1	62	0.0161	33	c.100 others(52): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAG		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12						chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48867569	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAACACACACACACAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0081 a0004c0004t0003g0081	1	276	0.0036	33	c.45 others(44): Show c.4564_*4565insAAAAAAAAAAAAAAAAACACACACACACAAAAT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding					2325		chr17	TogoVar
CALCRL_chr2_187336964_187453252	187366249	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0326 a0001c0001t0006g0326	1	2	0.5000	33	c.501 others(50): Show c.501-2748_501-2747insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding	8/14						chr2	TogoVar
CALCR_chr7_93419486_93579724	93460570	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0177 a0001c0001t0005g0177	1	132	0.0076	33	c.648 others(48): Show c.648+250_648+251insATATACATATATATATATATATATATATAT ATA		CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13						chr7	TogoVar
CALCR_chr7_93419486_93579724	93460572	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	89	0.0112	33	c.648 others(48): Show c.648+248_648+249insATACATATATATATATATATATATATATAT ATT		CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13						chr7	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02970.hp1 others(2): Show HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03195.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0087	5	66	0.0758	33	c.34+ others(48): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5						chr2	TogoVar
CALN1_chr7_71774491_72417338	72065055	G G	GTTAATAT others(26): Show GTTAATATATGTAAAATATATTTATATGTTAATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp2 NA19043.hp1 others(1): Show HG01109.hp2 HG01433.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0039 others(1): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0039 a0001c0001t0041	a0001c0001t0008g0027 a0001c0001t0022g0001 a0001c0001t0039g0030 others(1): Show a0001c0001t0008g0027 a0001c0001t0022g0001 a0001c0001t0039g0030 a0001c0001t0041g0084	4	142	0.0282	33	c.388 others(52): Show c.388+41063_388+41095dupTATTAACATATAAATATATTTTACAT ATATTAA		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(26): Show AAATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18990.hp1 NA20905.hp2 HG01496.hp1 NA18990.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0001 a0001c0001t0002 a0001c0001t0026	a0001c0001t0001g0094 a0001c0001t0002g0074 a0001c0001t0026g0011 a0001c0001t0001g0094 a0001c0001t0002g0074 a0001c0001t0026g0011	3	54	0.0556	33	c.244 others(52): Show c.244+73134_244+73135insATATATATATATATATATATATATGT ATATATT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CALU_chr7_128734359_128778400	128768847	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	168	0.0060	33	c.844 others(48): Show c.844-195_844-194insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
CALY_chr10_133319072_133341896	133324560	T T	TTGGCTGG others(26): Show TTGGCTGGGGTGGGCGGGGCTGCAGAGCTGCTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG03540.hp2 HG02615.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0164 a0001c0001t0009g0165 a0001c0001t0009g0084 a0001c0001t0009g0164 a0001c0001t0009g0165	3	178	0.0169	33	c.10 others(44): Show c.1002_*1034dupGCAGCAGCTCTGCAGCCCCGCCCACCCCAGCCA		CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	6/6				1266		chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12387445	T T	TTATATAT others(26): Show TTATATATTTTATATATTATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG00099.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0055 a0001c0002t0004 a0001c0002t0055	a0001c0002t0004g0208 a0001c0002t0055g0207 a0001c0002t0004g0208 a0001c0002t0055g0207	2	72	0.0278	33	c.92+ others(50): Show c.92+37542_92+37543insTTTATATATTATATATATTTTATATATA TATAT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12541885	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	208	0.0048	33	c.93- others(50): Show c.93-11336_93-11335insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr10	TogoVar

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