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 haplotype class

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
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(47): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0081 a0003c0003t0002g0081	1	424	0.0024	-54	c.116 others(71): Show c.1169-439_1169-386delTATATATATATATATATATATATATATA TATATATATATATATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BPHL_chr6_3113711_3158578	3146075	TGGAGTGC others(47): Show TGGAGTGCTGATGTGGGTTGGAGTGCTGGTTCCGGTTGGAGTGCTGGTTC GGGTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 NA19240.hp2 HG00639.hp2 HG02809.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0209 a0001c0001t0004g0034 a0001c0001t0004g0209	3	350	0.0086	-54	c.788 others(71): Show c.788+5576_788+5629delATGTGGGTTGGAGTGCTGGTTCCGGTTG GAGTGCTGGTTCGGGTCGGAGTGCTG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPIFC_chr22_32408845_32469446	32424596	TTCTTCTC others(47): Show TTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTCT TCTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG01891.hp1 HG02630.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0012 a0003c0003 a0010c0012	a0003c0003t0003 a0010c0012t0001 a0003c0003t0003 a0010c0012t0001	a0003c0003t0003g0053 a0010c0012t0001g0195 a0003c0003t0003g0053 a0010c0012t0001g0195	2	422	0.0047	-54	c.121 others(73): Show c.1218-5246_1218-5193delGAAGAAGAGAAGAAGAAGAAGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BRSK2_chr11_1384934_1467689	1434379	CCCCTGTG others(47): Show CCCCTGTGATAATATGGGCCGGCTCTGCGTGTCTGGGGGCACCTAGGAGT GGGGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0037 a0006c0012t0037	a0006c0012t0037g0293 a0006c0012t0037g0293	1	360	0.0028	-54	c.92- others(69): Show c.92-1657_92-1604delTGTGATAATATGGGCCGGCTCTGCGTGTCT GGGGGCACCTAGGAGTGGGGTCCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217035	AAATATAT others(47): Show AAATATATATATATATTTATATATATATATATATATATATATATATATAT TTTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0006 a0004c0003t0006	a0004c0003t0006g0140 a0004c0003t0006g0140	1	338	0.0030	-54	c.365 others(73): Show c.3659+1063_3659+1116delAAAAAATATATATATATATATATATA TATATATATATAAATATATATATATATT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217039	ATATATAT others(47): Show ATATATATATATTTATATATATATATATATATATATATATATATATTTTT TTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0012 a0006c0013t0012	a0006c0013t0012g0085 a0006c0013t0012g0085	1	338	0.0030	-54	c.365 others(73): Show c.3659+1059_3659+1112delAAAAAAAAAATATATATATATATATA TATATATATATATATAAATATATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BTBD19_chr1_44803523_44820585	44816475	GTGTGTGT others(47): Show GTGTGTGTATATTATATATACACATAGATGTGAGTATATTATATATACAC ATAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 NA18960.hp1 HG01123.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	2	436	0.0046	-54	c.27 others(65): Show c.2704_*2757delTGTGTGTATATTATATATACACATAGATGTGAGT ATATTATATATACACATAGA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		891		chr1	TogoVar
BTBD7_chr14_93232550_93338036	93257914	TAAAAGTA others(47): Show TAAAAGTAGACCCTTTGATCTTTGACATGTAATATATGTCCATCATCCAA GGCAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02717.hp2 others(4): Show HG02572.hp1 HG02572.hp2 HG02717.hp2 HG02922.hp1 HG03471.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0018 a0001c0001t0015 a0001c0001t0018	a0001c0001t0015g0270 a0001c0001t0015g0271 a0001c0001t0015g0272 others(4): Show a0001c0001t0015g0270 a0001c0001t0015g0271 a0001c0001t0015g0272 a0001c0001t0015g0273 a0001c0001t0018g0274 a0001c0001t0018g0275 a0001c0001t0018g0276	7	375	0.0187	-54	c.144 others(71): Show c.1448-613_1448-560delCTGCCTTGGATGATGGACATATATTACA TGTCAAAGATCAAAGGGTCTACTTTT	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	5/10			chr14	TogoVar
BTBD9_chr6_38163451_38644929	38266587	GGAAAGAA others(47): Show GGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0004 a0001c0001t0017g0004	1	224	0.0045	-54	c.145 others(75): Show c.1455-10125_1455-10072delTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCCTTTCTTTCCTTTCTTTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10			chr6	TogoVar
C11orf21_chr11_2290628_2306918	2291425	TGCTTTAG others(47): Show TGCTTTAGTATATTCAGAGGCGTGCCTCCCTCAGCACCCCCAAAAACAAC TCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0003 a0003c0004t0003g0003	1	426	0.0024	-54	c.64 others(65): Show c.6471_*6524delGGGGAGTTGTTTTTGGGGGTGCTGAGGGAGGCAC GCCTCTGAATATACTAAAGC	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		4202		chr11	TogoVar
C11orf21_chr11_2290628_2306918	2292191	ACAGAGGC others(47): Show ACAGAGGCGTGCCACCCGCAGCACCCCCAAAAACAACTCCCCGCTTTAGT ATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	426	0.0024	-54	c.57 others(65): Show c.5705_*5758delAATATACTAAAGCGGGGAGTTGTTTTTGGGGGTG CTGCGGGTGGCACGCCTCTG	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		3436		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394174	GTTTCGTT others(47): Show GTTTCGTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG06807.hp1 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	2	422	0.0047	-54	c.57 others(65): Show c.5732_*5785delGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAACGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4357		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39711814	TGTACACA others(47): Show TGTACACATGCATGTGTATATGTGTGTATACACATGCATGTGTATGTGTA TACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG03834.hp1 HG00733.hp1 HG01070.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0025 a0001c0001t0004g0059 a0001c0001t0006g0033 a0001c0001t0001g0025 a0001c0001t0004g0059 a0001c0001t0006g0033	3	360	0.0083	-54	c.141 others(73): Show c.1412-4938_1412-4885delCACATGCATGTGTATATGTGTGTATA CACATGCATGTGTATGTGTATACACGTA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C1QB_chr1_22648236_22666637	22659285	GATAGAGA others(47): Show GATAGAGAGATGGATGGATGGATGGATGGATGGATGGATGGATGCAGATG GAGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(40): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18965.hp1 NA18968.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19075.hp1 NA19082.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0003g0029	43	430	0.1000	-54	c.-23 others(68): Show c.-23-111_-23-58delCAGATGGAGGAATAGAGAGATGGATGGATGG ATGGATGGATGGATGGATGGATG	C1QB	ENSG00000173369.18	transcript	ENST00000509305.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
C2CD3_chr11_74007718_74176002	74077793	ATATATAT others(47): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04228.hp2 HG06807.hp1 others(4): Show HG02280.hp2 HG04228.hp2 HG06807.hp1 NA18943.hp2 NA18984.hp2 NA18999.hp2 NA19003.hp2	a0009 a0036 a0009 a0036	a0009c0010 a0036c0042 a0009c0010 a0036c0042	a0009c0010t0001 a0036c0042t0001 a0009c0010t0001 a0036c0042t0001	a0009c0010t0001g0303 a0009c0010t0001g0304 a0009c0010t0001g0305 others(4): Show a0009c0010t0001g0303 a0009c0010t0001g0304 a0009c0010t0001g0305 a0009c0010t0001g0306 a0009c0010t0001g0307 a0009c0010t0001g0308 a0036c0042t0001g0302	7	318	0.0220	-54	c.460 others(71): Show c.4603+268_4603+321delAATATATATATATATATATATATATATA TATATATATATATATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117048	GTATATAT others(47): Show GTATATATATATGAATATATATATATGAATATATATATGAATATATATAT ATGAA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02559.hp1 others(14): Show HG02083.hp1 HG02083.hp2 HG02559.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp1 HG03098.hp2 HG03654.hp1 NA18906.hp2 NA18950.hp2 NA18967.hp2 NA18979.hp2 NA18993.hp2 NA18998.hp2 NA19062.hp1 NA19074.hp2 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0010	a0001c0001 a0002c0003 a0003c0002 others(2): Show a0001c0001 a0002c0003 a0003c0002 a0008c0007 a0010c0011	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0008c0007t0001 a0010c0011t0001	a0001c0001t0001g0096 a0001c0001t0001g0154 a0002c0003t0001g0018 others(14): Show a0001c0001t0001g0096 a0001c0001t0001g0154 a0002c0003t0001g0018 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0090 a0002c0003t0001g0091 a0003c0002t0001g0254 a0008c0007t0001g0082 a0008c0007t0001g0221 a0010c0011t0001g0053 a0010c0011t0001g0066 a0010c0011t0001g0067 a0010c0011t0001g0068 a0010c0011t0001g0077 a0010c0011t0001g0079	17	318	0.0535	-54	c.152 others(73): Show c.1520+1126_1520+1179delTTCATATATATATATTCATATATATA TTCATATATATATATTCATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C7orf50_chr7_992006_1143247	1116923	AGGACCGG others(47): Show AGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCA GTTCT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0318 a0002c0002t0003g0316 a0001c0001t0002g0318 a0002c0002t0003g0316	2	326	0.0061	-54	c.129 others(73): Show c.129+10280_129+10333delAGAACTGCAGTGATGTCATCATCCTG CGTGGGCGTCGGTGATGGAAGCCGGTCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128091	TCACCCGG others(47): Show TCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCAC CCGGG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01361.hp2 others(9): Show HG00642.hp2 HG00738.hp2 HG01361.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp2 HG02300.hp1 HG04204.hp2 NA18963.hp2 NA18975.hp1 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 a0003c0004t0002	a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0216 others(9): Show a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0286 a0001c0001t0003g0210 a0001c0001t0030g0326 a0003c0004t0002g0230	12	326	0.0368	-54	c.-1- others(67): Show c.-1-759_-1-706delCCCGGGTGACGGTGGGATGAGCCGAGATCGCG CCACTGCACTCCAGCCCGGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128229	TCACCCGG others(47): Show TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CCGGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02145.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0242 a0001c0001t0005g0241 a0001c0001t0002g0242 a0001c0001t0005g0241	2	326	0.0061	-54	c.-1- others(67): Show c.-1-897_-1-844delCCCGGGTGACGGTGGGATGAGCCGAGATGGCG CCACTGCACTCCAGCCCGGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8A_chr1_56849797_56923223	56885316	ATATATTT others(47): Show ATATATTTATTTAAATATATATTTACATAAATATATATTTATGTAAATAT ATATT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	366	0.0027	-54	c.856 others(69): Show c.856-586_856-533delCATAAATATATATTTATGTAAATATATATT TATATTTATTTAAATATATATTTA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8orf33_chr8_145047467_145061030	145052242	CCGCCCCG others(47): Show CCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCC GCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00621.hp2 others(60): Show HG00423.hp2 HG00544.hp2 HG00621.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01192.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG02040.hp1 HG02056.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18747.hp2 NA18954.hp2 NA18956.hp1 NA18966.hp2 NA18972.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18994.hp1 NA18995.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19072.hp1 NA19074.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0003g0004 a0001c0001t0004g0001 a0001c0001t0017g0009 a0001c0001t0022g0001	63	406	0.1552	-54	c.-24 others(63): Show c.-249_-196delCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCCCCGCC CGCGCCCCGCCCCGCCCG	C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding		224		chr8	TogoVar
CABP5_chr19_48024383_48049079	48041857	CACCCATC others(47): Show CACCCATCACATTGTGTCAAAGGGGGTCTTAAACACTGGGGAGTCCAATC TCCAG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0037 a0003c0010t0037	a0003c0010t0037g0287 a0003c0010t0037g0287	1	376	0.0027	-54	c.64- others(67): Show c.64-308_64-255delCTGGAGATTGGACTCCCCAGTGTTTAAGACCC CCTTTGACACAATGTGATGGGT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2105923	TGGGCGTC others(47): Show TGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTC AGCTG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	104	0.0096	-54	c.50- others(69): Show c.50-9216_50-9163delCGGGGAGGGTTTCCACCTCAGCTGGGGCGT CCTGAAGCCACTGGGCGCCCACCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106266	GCCCACCC others(47): Show GCCCACCCCGGGGAGGATTTCTACCTCATCTGGGGCGTCCTGAAGCCACT GGGCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02965.hp1 HG03486.hp2 others(1): Show HG01071.hp1 HG02965.hp1 HG03486.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0031 others(1): Show a0001c0002 a0001c0003 a0001c0031 a0001c0036	a0001c0002t0003 a0001c0003t0044 a0001c0031t0002 others(1): Show a0001c0002t0003 a0001c0003t0044 a0001c0031t0002 a0001c0036t0007	a0001c0002t0003g0056 a0001c0003t0044g0053 a0001c0031t0002g0021 others(1): Show a0001c0002t0003g0056 a0001c0003t0044g0053 a0001c0031t0002g0021 a0001c0036t0007g0100	4	104	0.0385	-54	c.50- others(69): Show c.50-8942_50-8889delATTTCTACCTCATCTGGGGCGTCCTGAAGC CACTGGGCACCCACCCCGGGGAGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106975	GTTTCCAC others(47): Show GTTTCCACCTCAGCTGGGGTGTCCTGAAGCCACTGGGTGCCCACCCCGGG GAGGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	104	0.0096	-54	c.50- others(69): Show c.50-8221_50-8168delGCCACTGGGTGCCCACCCCGGGGAGGTTTT CCACCTCAGCTGGGGTGTCCTGAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2107022	GGGGAGGT others(47): Show GGGGAGGTTTTCCACCTCAGCTGGGGTGTCCTGAAACCACTGGGTGCTCA CCCCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19030.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0040 a0001c0020t0002 a0001c0003t0040 a0001c0020t0002	a0001c0003t0040g0011 a0001c0020t0002g0010 a0001c0003t0040g0011 a0001c0020t0002g0010	2	104	0.0192	-54	c.50- others(69): Show c.50-8195_50-8142delTTTTCCACCTCAGCTGGGGTGTCCTGAAAC CACTGGGTGCTCACCCCAGGGAGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2107418	AGAGGGTT others(47): Show AGAGGGTTTCCACCTCAGCTGGGGTGTGCTGAAACCACTGGGCGCCCACC CCGGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0012 a0002c0009t0012	a0002c0009t0012g0061 a0002c0009t0012g0062 a0002c0009t0012g0061 a0002c0009t0012g0062	2	104	0.0192	-54	c.50- others(69): Show c.50-7783_50-7730delGTGTGCTGAAACCACTGGGCGCCCACCCCG GGGAGGGTTTCCACCTCAGCTGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA2D1_chr7_81941444_82448777	81958804	AACTAGAA others(47): Show AACTAGAACTCTGTAATAATAAGACAATGGCTGTATAACAGGTTTTTCAA TTCAC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04115.hp1 HG03834.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0002 a0001c0001t0006g0142 a0001c0001t0004g0002 a0001c0001t0006g0142	2	144	0.0139	-54	c.315 others(71): Show c.3159+417_3159+470delGTGAATTGAAAAACCTGTTATACAGCCA TTGTCTTATTATTACAGAGTTCTAGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50506221	TGGGGAGA others(47): Show TGGGGAGAATACTGGGGCTGGTGTCAACCTTGACTCCACAGCTTGTGGCC CTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	234	0.0043	-54	c.-28 others(65): Show c.-2852_-2799delGAAAGGGCCACAAGCTGTGGAGTCAAGGTTGACA CCAGCCCCAGTATTCTCCCC	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding		2588		chr3	TogoVar
CACNB4_chr2_151827771_152104044	151876680	AACTATAT others(47): Show AACTATATTTTATATGTATATGTGTGTATACTATATTTTATATACTATAC TATAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA20300.hp1 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0214 a0001c0001t0002g0139 a0001c0001t0002g0214	2	230	0.0087	-54	c.391 others(69): Show c.391-178_391-125delCTATAGTATAGTATATAAAATATAGTATAC ACACATATACATATAAAATATAGT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151876734	GACTATAT others(47): Show GACTATATTTTATATGTATATGTGTGTATACTATATTTTATATACTATAC TATAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG03453.hp2 others(2): Show HG02647.hp1 HG02965.hp1 HG03453.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0015 a0001c0005t0019 a0001c0001t0005 a0001c0001t0015 a0001c0005t0019	a0001c0001t0005g0004 a0001c0001t0005g0141 a0001c0001t0015g0016 others(2): Show a0001c0001t0005g0004 a0001c0001t0005g0141 a0001c0001t0015g0016 a0001c0001t0015g0019 a0001c0005t0019g0199	5	230	0.0217	-54	c.391 others(69): Show c.391-232_391-179delATATAGTATAGTATATAAAATATAGTATAC ACACATATACATATAAAATATAGT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNG4_chr17_66959707_67038398	66968527	GCCTCCTC others(47): Show GCCTCCTCTCCCCTCCCCTCCTCCTCTCCCTCCTCTCCCCTTCCCTCCTC CTCTC	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG04228.hp2 HG03490.hp1 HG03492.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146	3	352	0.0085	-54	c.220 others(71): Show c.220+3437_220+3490delTCCCTCCTCCTCTCCCTCCTCTCCCCTC CCCTCCTCCTCTCCCTCCTCTCCCCT	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG4_chr17_66959707_67038398	66968568	TCCCTCCT others(47): Show TCCCTCCTCCTCTCCCTCCTCTCCCCTCCCCTCCTCCTCTCCCTCCTCTC CCCTC	T T	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0339 a0001c0001t0004g0339	1	352	0.0028	-54	c.220 others(71): Show c.220+3515_220+3568delCCTCCCCTCCTCCTCTCCCTCCTCTCCC CTCCCCTCCTCCTCTCCCTCCTCTCC	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG4_chr17_66959707_67038398	67026485	CTGTATTT others(47): Show CTGTATTTGAGGAATGTGGTGTATGTGTGTGTATTTGAGGACTGTGGGGT GTGTA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01106.hp2 others(49): Show HG00597.hp1 HG00609.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01891.hp1 HG02027.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 NA18959.hp2 NA18980.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0035 a0001c0001t0041 a0001c0005t0002 a0002c0004t0002	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(49): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0002g0089 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0220 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0309 a0001c0001t0002g0333 a0001c0001t0003g0223 a0001c0001t0003g0273 a0001c0001t0004g0041 a0001c0001t0004g0072 a0001c0001t0004g0093 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0101 a0001c0001t0004g0125 a0001c0001t0004g0152 a0001c0001t0004g0157 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0304 a0001c0001t0004g0314 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0008g0262 a0001c0001t0009g0237 a0001c0001t0009g0250 a0001c0001t0009g0251 a0001c0001t0011g0190 a0001c0001t0012g0019 a0001c0001t0012g0061 a0001c0001t0012g0062 a0001c0001t0035g0188 a0001c0001t0041g0155 a0001c0005t0002g0029 a0001c0005t0002g0031 a0002c0004t0002g0234	52	352	0.1477	-54	c.445 others(71): Show c.445+1498_445+1551delATGTGGTGTATGTGTGTGTATTTGAGGA CTGTGGGGTGTGTATGTATTTGAGGA	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG7_chr19_53904278_53948950	53906048	CCTCCTCC others(47): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTC TTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 NA18969.hp2 HG02155.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0083 a0001c0001t0001g0085	2	364	0.0055	-54	c.-34 others(65): Show c.-3498_-3445delCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTTCTTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3229		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53919978	TCCCCAGG others(47): Show TCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA CTTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG01243.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0016 a0001c0001t0001g0018	2	364	0.0055	-54	c.424 others(71): Show c.424+4477_424+4530delCAGGCCTGGTATTGGTGGAGTTGCCCCA GGTCTGGTCATTGGTGGACTTGCCCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921335	CTTGCCCC others(47): Show CTTGCCCCAGGCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGG TGGAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03209.hp2 NA19030.hp1 HG02615.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0004g0354 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0004g0354	3	364	0.0082	-54	c.424 others(71): Show c.424+5841_424+5894delCTGGTCATTGGTGGAGTCGTCCCCAGGT CTGGTCATTGGTGGAGTTGCCCCAGG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922039	TCCCCAGG others(47): Show TCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAG TTGTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp1 HG01993.hp2 others(5): Show HG01070.hp2 HG01884.hp1 HG01993.hp2 HG02647.hp2 HG02922.hp2 HG03041.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0001g0251 a0001c0001t0001g0315 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0251 a0001c0001t0001g0315 a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029	8	364	0.0220	-54	c.424 others(71): Show c.424+6538_424+6591delCAGGCCTGGTATTGGTGGAGTTGCCCCA GGTCTGGTATTGGTGGAGTTGTCCCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922454	GCTGGTCA others(47): Show GCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCC CAGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	364	0.0028	-54	c.424 others(71): Show c.424+6969_424+7022delCCCCAGGTCTGGTCATTGGTGGAGTTGT CCCAGGTCTGGTCATTGGTGGAGTTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922629	CAGTTGTC others(47): Show CAGTTGTCCCCAGGCCTGGTCATTGGTGCAGTTGTCCCAGGCTGGTCATT GGTGG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	364	0.0028	-54	c.424 others(71): Show c.424+7130_424+7183delTCCCCAGGCCTGGTCATTGGTGCAGTTG TCCCAGGCTGGTCATTGGTGGAGTTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922648	TCATTGGT others(47): Show TCATTGGTGCAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTC TGGTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0061 a0001c0001t0001g0066	2	364	0.0055	-54	c.424 others(71): Show c.424+7144_424+7197delCATTGGTGCAGTTGTCCCAGGCTGGTCA TTGGTGGAGTTGCCCCAGGTCTGGTC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CADM2_chr3_84953989_86079429	85768734	CATATATA others(47): Show CATATATACACATATATACATATATAGTATATATACACATATATACATAT ATAGT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19030.hp1 HG01074.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0018 a0001c0001t0003g0113 a0001c0001t0001g0018 a0001c0001t0003g0113	2	146	0.0137	-54	c.89- others(71): Show c.89-32991_89-32938delAGTATATATACACATATATACATATATA GTATATATACACATATATACATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122706155	TATATGCT others(47): Show TATATGCTTATATATTCAAGGAATACATATATATGCTTATATATTCAAGG AATAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	126	0.0079	-54	c.453 others(73): Show c.453+30746_453+30799delGTATTCCTTGAATATATAAGCATATA TATGTATTCCTTGAATATATAAGCATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12691350	TATATATA others(47): Show TATATATATATATATATATATATATATAAATATATATATATATATATATA TATAA	T T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0156 a0001c0001t0101g0156	1	214	0.0047	-54	c.299 others(73): Show c.299+24559_299+24612delATATATATAAATATATATATATATAT ATATATATAAATATATATATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44409080	GATATATA others(47): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG04228.hp1 NA18945.hp1 others(3): Show HG02615.hp2 HG04228.hp1 NA18945.hp1 NA18999.hp1 NA19007.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0186	6	198	0.0303	-54	c.376 others(73): Show c.376+18824_376+18877delATATATATATATATATATATATATAT ATATATATATATATATATATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200816782	ATATGTGT others(47): Show ATATGTGTGTACACACACACGCGTGTATATATGTGTGTACACACACACGC GTGTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	366	0.0027	-54	c.645 others(71): Show c.645+1164_645+1217delATATATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816819	TACACACA others(47): Show TACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTG TGTAC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	366	0.0027	-54	c.645 others(71): Show c.645+1184_645+1237delACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816909	CGTGTGTA others(47): Show CGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACA CGCGT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	366	0.0027	-54	c.645 others(71): Show c.645+1270_645+1323delGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816916	ATGTGTGT others(47): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02965.hp1 others(5): Show HG01243.hp2 HG02451.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03486.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 others(5): Show a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091	8	366	0.0219	-54	c.645 others(71): Show c.645+1276_645+1329delGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310646	TTTTTCTT others(47): Show TTTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTCTCTCTCTCTCTCT CTCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0043 a0001c0015t0006g0043	1	58	0.0172	-54	c.438 others(73): Show c.438+61022_438+61075delTTTCTTTCTTTCTTTCTTTCTTTCCT TTCTTTCTCTCTCTCTCTCTCTCTCTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar

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