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
C3orf70_chr3_185071838_185158060	185134116	C C	CTCATATA others(25): Show CTCATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0354 a0001c0001t0011g0354	1	376	0.0027	32	c.196 others(51): Show c.196+18511_196+18512insATATATATATATATATATATATATAT ATATGA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C4orf33_chr4_129091152_129121637	129115817	T T	TATATATA others(25): Show TATATATATATAATATATATATGTTTATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0021 a0001c0001t0054g0021	1	338	0.0030	32	c.40 others(43): Show c.4037_*4038insATATATATATGTTTATATATAATATATATATA	C4orf33	ENSG00000151470.13	transcript	ENST00000425929.6	protein_coding	6/6	4038	INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf46_chr4_158661675_158676887	158673723	A A	AGAGCCTA others(25): Show AGAGCCTAATTTAGATGCAATCAGCCTTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	368	0.0027	32	c.-19 others(43): Show c.-1954_-1923dupGGCCCAAGGCTGATTGCATCTAAATTAGGCTC	C4orf46	ENSG00000205208.5	transcript	ENST00000379205.5	protein_coding		1837		chr4	TogoVar
C5orf34_chr5_43481709_43520148	43519819	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	105	0.0095	32	c.-50 others(43): Show c.-5051_-5050insCACACACACACACACACACACACACACACACA	C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding		4672		chr5	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0364 a0003c0003t0003g0364	1	113	0.0088	32	c.216 others(49): Show c.2166-828_2166-827insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1136589	T T	TATATAAA others(25): Show TATATAAACATATAAACATAAACATATATAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0323 a0001c0001t0003g0323	1	324	0.0031	32	c.-2+ others(45): Show c.-2+725_-2+726insGTTTATATATGTTTATGTTTATATGTTTATAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8A_chr1_56849797_56923223	56885370	T T	TTATATTT others(25): Show TTATATTTATTTAAATATATATTTAAATAAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01106.hp2 HG00280.hp1 HG00558.hp1 HG01106.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0191 a0004c0004t0001g0230 a0004c0004t0001g0231 a0002c0002t0001g0191 a0004c0004t0001g0230 a0004c0004t0001g0231	3	328	0.0091	32	c.856 others(47): Show c.856-528_856-497dupAATATATATTTATTTAAATATATATTTAAA TA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8A_chr1_56849797_56923223	56885370	T T	TTATATTT others(25): Show TTATATTTATTTAAATATATATTTACATAAATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 NA19043.hp2 HG02622.hp2 HG02809.hp2 NA19043.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0017 a0001c0001 a0015c0017	a0001c0001t0001 a0015c0017t0002 a0001c0001t0001 a0015c0017t0002	a0001c0001t0001g0019 a0001c0001t0001g0077 a0015c0017t0002g0075 a0001c0001t0001g0019 a0001c0001t0001g0077 a0015c0017t0002g0075	3	328	0.0091	32	c.856 others(47): Show c.856-533_856-532insCATAAATATATATTTATTTAAATATATATT TA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8orf33_chr8_145047467_145061030	145052318	G G	GCGCCCCG others(25): Show GCGCCCCGCCCGCGCCCCGCCCCGCCCGCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02145.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	2	404	0.0050	32	c.-17 others(41): Show c.-174_-173insCGCCCCGCCCGCGCCCCGCCCCGCCCGCTCCC	C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding		148		chr8	TogoVar
C8orf34_chr8_68325955_68824023	68466738	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG03130.hp1 HG02809.hp1 HG02886.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0002t0001 a0001c0005t0003 a0001c0001t0003 a0001c0002t0001 a0001c0005t0003	a0001c0001t0003g0061 a0001c0002t0001g0004 a0001c0005t0003g0079 a0001c0001t0003g0061 a0001c0002t0001g0004 a0001c0005t0003g0079	3	42	0.0714	32	c.608 others(49): Show c.608-1927_608-1926insTATATATATATATATATATATATATATA TATA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68466765	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	110	0.0091	32	c.608 others(49): Show c.608-1927_608-1926insTATATATATATATATATATATATATATA TATG	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	3/13			chr8	TogoVar
C9orf153_chr9_86215265_86264657	86231600	T T	TATATATA others(25): Show TATATATATATATATATACATGTATGTATATGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02895.hp2 others(4): Show HG02572.hp1 HG02809.hp1 HG02895.hp2 HG02976.hp2 HG03098.hp1 HG03453.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0223 a0002c0002t0005g0306 others(2): Show a0002c0002t0005g0005 a0002c0002t0005g0223 a0002c0002t0005g0306 a0002c0002t0005g0307 a0002c0002t0005g0337	7	376	0.0186	32	c.-26 others(49): Show c.-26-1972_-26-1971insGCATATACATACATGTATATATATATAT ATAT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf153_chr9_86215265_86264657	86251914	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	88	0.0114	32	c.-27 others(49): Show c.-27+7635_-27+7636insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055374	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	208	0.0048	32	c.280 others(47): Show c.280+699_280+700insAGGAAGGAAGGAGGGAGGGAGGGAGGGAGG GA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
CA10_chr17_51625320_52163714	51717826	T T	TATATATA others(25): Show TATATATACGTGTATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG02273.hp1 HG00408.hp2 HG01099.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0055 a0001c0002t0001g0098 a0001c0002t0001g0026 a0001c0002t0001g0055 a0001c0002t0001g0098	3	101	0.0297	32	c.465 others(51): Show c.465+29806_465+29807insGTATATATATACATATATATACACGT ATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51876687	G G	GTGAAGAC others(25): Show GTGAAGACTTCAGTGAAGAATTCAGTGACTTAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	154	0.0065	32	c.279 others(51): Show c.279+54271_279+54302dupGTAAGTCACTGAATTCTTCACTGAAG TCTTCA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA12_chr15_63316378_63386846	63376557	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03942.hp2 HG04204.hp1 others(1): Show HG01891.hp1 HG03942.hp2 HG04204.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0040	a0001c0001t0001g0033 a0001c0001t0006g0335 a0001c0001t0009g0154 others(1): Show a0001c0001t0001g0033 a0001c0001t0006g0335 a0001c0001t0009g0154 a0001c0001t0040g0019	4	150	0.0267	32	c.86- others(45): Show c.86-911_86-880dupAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	221	0.0045	32	c.86- others(45): Show c.86-923_86-922insGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937767	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02055.hp1 HG01515.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0043 a0001c0002t0002g0033 a0001c0001t0001g0043 a0001c0002t0002g0033	2	322	0.0062	32	c.-13 others(43): Show c.-1318_-1317insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1239		chr16	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03669.hp2 NA19055.hp2 HG01884.hp1 HG03669.hp2 NA19055.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0001 a0004c0007t0001 a0001c0002t0001 a0004c0007t0001	a0001c0002t0001g0253 a0001c0002t0001g0303 a0004c0007t0001g0378 a0001c0002t0001g0253 a0001c0002t0001g0303 a0004c0007t0001g0378	3	109	0.0275	32	c.29 others(43): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02970.hp2 others(1): Show HG02055.hp2 HG02145.hp1 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0021 a0001c0003t0006 a0001c0003t0046 a0001c0002t0021 a0001c0003t0006 a0001c0003t0046	a0001c0002t0021g0018 a0001c0003t0006g0151 a0001c0003t0006g0153 others(1): Show a0001c0002t0021g0018 a0001c0003t0006g0151 a0001c0003t0006g0153 a0001c0003t0046g0154	4	206	0.0194	32	c.36 others(47): Show c.36-973_*36-972insGTGTGTGTATATATATATATATATATATAT AT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00673.hp2 others(20): Show HG00099.hp2 HG00558.hp1 HG00673.hp2 HG00738.hp1 HG01192.hp2 HG02040.hp1 HG02135.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG03927.hp1 NA18940.hp1 NA18948.hp1 NA18957.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18979.hp1 NA19000.hp2 NA19058.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0002t0005 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0005 a0001c0002t0031 a0001c0002t0042 a0001c0005t0030	a0001c0001t0002g0014 a0001c0001t0002g0223 a0001c0001t0002g0233 others(19): Show a0001c0001t0002g0014 a0001c0001t0002g0223 a0001c0001t0002g0233 a0001c0001t0002g0256 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0295 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0319 a0001c0001t0002g0324 a0001c0001t0006g0167 a0001c0002t0005g0025 a0001c0002t0005g0031 a0001c0002t0005g0058 a0001c0002t0005g0087 a0001c0002t0005g0104 a0001c0002t0005g0126 a0001c0002t0031g0067 a0001c0002t0042g0042 a0001c0005t0030g0021	23	225	0.1022	32	c.36 others(47): Show c.36-973_*36-972insGTGTGTATATATATATATATATATATATAT AT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG04228.hp1 NA18998.hp2 HG02056.hp2 HG04228.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0012 a0001c0001t0018 a0001c0002t0012	a0001c0001t0018g0158 a0001c0002t0012g0100 a0001c0002t0012g0105 a0001c0001t0018g0158 a0001c0002t0012g0100 a0001c0002t0012g0105	3	205	0.0146	32	c.36 others(47): Show c.36-973_*36-972insGTGTATATATATATATATATATATATATAT AT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0141 a0001c0003t0013g0141	1	203	0.0049	32	c.36 others(47): Show c.36-973_*36-972insGTATATATATATATATATATATATATATAT AT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	1	318	0.0031	32	c.666 others(51): Show c.666-11415_666-11414insATATATATATATATATATATATATAT ATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GAGATATA others(25): Show GAGATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03239.hp1 HG01256.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0236 a0001c0002t0001g0047 a0001c0002t0001g0236	2	164	0.0122	32	c.565 others(49): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT ATCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18991.hp2 NA18983.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0241 a0001c0002t0002g0122 a0001c0002t0002g0241	2	164	0.0122	32	c.565 others(49): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT ATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGAGAGG others(25): Show GAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	211	0.0047	32	c.-31 others(51): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTTCCTTC CTCTCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp2 others(11): Show HG00099.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp2 HG01070.hp2 HG01433.hp2 HG02818.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03704.hp1 HG03710.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0136 others(11): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0235 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0198 a0001c0001t0002g0300	14	224	0.0625	32	c.-31 others(51): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405747	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01981.hp2 HG03669.hp1 HG01256.hp1 HG01981.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0002t0001g0047 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0002t0001g0047	3	322	0.0093	32	c.-31 others(51): Show c.-31-22807_-31-22806insCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	149	0.0067	32	c.-43 others(51): Show c.-43-11127_-43-11126insAAAATATATATATATATATATATATA TATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61680323	T T	TATATATA others(25): Show TATATATATATTTATATACATATAACATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp2 HG03688.hp2 others(7): Show HG00609.hp2 HG01192.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 NA18941.hp2 NA18960.hp2 NA19064.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0357 others(7): Show a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0357 a0001c0001t0004g0346 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0358	10	372	0.0269	32	c.165 others(47): Show c.165-789_165-758dupTAATATATATATTTATATACATATAACATA TA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABLES1_chr18_23130485_23265470	23199309	A A	ACAATTAA others(25): Show ACAATTAATTGCTAGTTGTAATTAATTACCTAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA20905.hp2 HG03669.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0035 a0001c0014t0030 a0001c0001t0035 a0001c0014t0030	a0001c0001t0035g0252 a0001c0014t0030g0079 a0001c0001t0035g0252 a0001c0014t0030g0079	2	276	0.0072	32	c.101 others(51): Show c.1010+4789_1010+4820dupATTAATTACCTAGCAATTAATTGCTA GTTGTA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABS1_chr4_70329981_70342116	70340742	C C	CTATTTAT others(25): Show CTATTTATTTATTTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00733.hp1 others(26): Show HG00099.hp1 HG00544.hp1 HG00733.hp1 HG01175.hp1 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG01934.hp2 HG02004.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG03017.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03710.hp1 NA18957.hp2 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA18992.hp2 NA18998.hp1 NA19080.hp2 NA19084.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0010 others(1): Show a0001c0001 a0002c0002 a0002c0010 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0010t0001 a0007c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0002 a0002c0002t0001g0001 a0002c0010t0001g0001 a0007c0006t0001g0003	29	75	0.3867	32	c.38 others(43): Show c.3896_*3897insTATTTATTTATTTATTTATTTATTTATTTATT	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding		3627		chr4	TogoVar
CACFD1_chr9_133454978_133475848	133460471	C C	CGGCGGGG others(25): Show CGGCGGGGGCGGGGGCGGGGGTGGGGCGGCGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01169.hp2 others(3): Show HG00280.hp1 HG00733.hp2 HG01169.hp2 HG02486.hp1 HG04228.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0020 a0001c0001t0014 a0001c0001t0020	a0001c0001t0014g0011 a0001c0001t0020g0011 a0001c0001t0014g0011 a0001c0001t0020g0011	6	194	0.0309	32	c.121 others(47): Show c.121+298_121+299insCGGGGGTGGGGCGGCGGGGGCGGGGGCGGG GG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(25): Show GGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18944.hp2 HG01981.hp1 NA18944.hp2	a0007 a0014 a0007 a0014	a0007c0008 a0014c0027 a0007c0008 a0014c0027	a0007c0008t0002 a0014c0027t0001 a0007c0008t0002 a0014c0027t0001	a0007c0008t0002g0097 a0014c0027t0001g0182 a0007c0008t0002g0097 a0014c0027t0001g0182	2	48	0.0417	32	c.979 others(47): Show c.979-686_979-685insTCTCTCTCTCTCTCTCTCTCTCCCTCTCTC TC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	86	0.0116	32	c.785 others(47): Show c.785-467_785-466insTATATATATATATATATATATATATATATA TA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413884	A A	AAGAAAAG others(25): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0001 a0003c0039t0001	a0003c0039t0001g0074 a0003c0039t0001g0074	1	199	0.0050	32	c.539 others(51): Show c.539+38991_539+38992insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413888	A A	AAGAAAAG others(25): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0116 a0014c0027t0001g0116	1	203	0.0049	32	c.539 others(51): Show c.539+38987_539+38988insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAGAAAAA others(25): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0099 a0001c0099	a0001c0099t0005 a0001c0099t0005	a0001c0099t0005g0019 a0001c0099t0005g0019	1	62	0.0161	32	c.539 others(51): Show c.539+38980_539+38981insCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13464543	A A	ATTGTTTT others(25): Show ATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18975.hp1 HG00438.hp1 NA18975.hp1	a0003 a0040 a0003 a0040	a0003c0054 a0040c0119 a0003c0054 a0040c0119	a0003c0054t0004 a0040c0119t0012 a0003c0054t0004 a0040c0119t0012	a0003c0054t0004g0053 a0040c0119t0012g0130 a0003c0054t0004g0053 a0040c0119t0012g0130	2	106	0.0189	32	c.294 others(49): Show c.294-9332_294-9331insAAAAAAAAAAAAAAAAAAAAAAAAAAAA ACAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01975.hp1 NA18955.hp2 others(3): Show HG01952.hp2 HG01975.hp1 NA18955.hp2 NA18964.hp2 NA18973.hp2 NA18975.hp1	a0001 a0002 a0038 others(1): Show a0001 a0002 a0038 a0040	a0001c0001 a0002c0003 a0038c0062 others(1): Show a0001c0001 a0002c0003 a0038c0062 a0040c0119	a0001c0001t0001 a0002c0003t0002 a0038c0062t0002 others(1): Show a0001c0001t0001 a0002c0003t0002 a0038c0062t0002 a0040c0119t0012	a0001c0001t0001g0049 a0002c0003t0002g0127 a0002c0003t0002g0131 others(3): Show a0001c0001t0001g0049 a0002c0003t0002g0127 a0002c0003t0002g0131 a0002c0003t0002g0174 a0038c0062t0002g0124 a0040c0119t0012g0130	6	155	0.0387	32	c.-38 others(43): Show c.-3812_-3811insCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0017 a0017	a0017c0078 a0017c0078	a0017c0078t0008 a0017c0078t0008	a0017c0078t0008g0149 a0017c0078t0008g0149	1	150	0.0067	32	c.-38 others(43): Show c.-3812_-3811insCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA18522.hp2 HG02258.hp1 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0101 a0003c0084 a0002c0101 a0003c0084	a0002c0101t0002 a0003c0084t0002 a0002c0101t0002 a0003c0084t0002	a0002c0101t0002g0148 a0003c0084t0002g0141 a0002c0101t0002g0148 a0003c0084t0002g0141	2	151	0.0132	32	c.-38 others(43): Show c.-3812_-3811insCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	150	0.0067	32	c.-38 others(43): Show c.-3812_-3811insCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	23	0.0435	32	c.49+ others(49): Show c.49+17564_49+17565insCCCTCCCTCCCTCCCTCCCTTCCTGCCT GCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01109.hp2 HG02965.hp1 HG00597.hp1 HG01109.hp2 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0032 a0003c0010 a0001c0001 a0001c0032 a0003c0010	a0001c0001t0001 a0001c0032t0062 a0003c0010t0002 a0001c0001t0001 a0001c0032t0062 a0003c0010t0002	a0001c0001t0001g0166 a0001c0032t0062g0073 a0003c0010t0002g0035 a0001c0001t0001g0166 a0001c0032t0062g0073 a0003c0010t0002g0035	3	127	0.0236	32	c.620 others(49): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT ATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGGAGC others(25): Show TGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp2 others(32): Show HG00280.hp2 HG00408.hp2 HG00544.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG02071.hp2 HG02080.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02717.hp1 HG02886.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA19009.hp2 NA19012.hp1 NA19091.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0013 a0020	a0001c0001 a0001c0002 a0001c0018 others(9): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003 a0002c0032 a0003c0005 a0004c0006 a0004c0049 a0005c0007 a0006c0015 a0013c0037 a0020c0043	a0001c0001t0002 a0001c0001t0003 a0001c0001t0050 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0050 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0017 a0001c0002t0045 a0001c0018t0002 a0002c0003t0001 a0002c0032t0013 a0003c0005t0008 a0004c0006t0014 a0004c0006t0037 a0004c0049t0040 a0005c0007t0006 a0005c0007t0060 a0006c0015t0002 a0013c0037t0041 a0020c0043t0007	a0001c0001t0002g0123 a0001c0001t0003g0122 a0001c0001t0003g0153 others(32): Show a0001c0001t0002g0123 a0001c0001t0003g0122 a0001c0001t0003g0153 a0001c0001t0050g0152 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0209 a0001c0002t0002g0218 a0001c0002t0003g0213 a0001c0002t0004g0212 a0001c0002t0004g0233 a0001c0002t0007g0219 a0001c0002t0017g0220 a0001c0002t0045g0195 a0001c0018t0002g0157 a0001c0018t0002g0158 a0002c0003t0001g0156 a0002c0032t0013g0211 a0003c0005t0008g0044 a0004c0006t0014g0216 a0004c0006t0037g0207 a0004c0049t0040g0182 a0005c0007t0006g0096 a0005c0007t0006g0097 a0005c0007t0006g0098 a0005c0007t0006g0099 a0005c0007t0006g0100 a0005c0007t0006g0101 a0005c0007t0060g0095 a0006c0015t0002g0224 a0013c0037t0041g0166 a0020c0043t0007g0149	35	183	0.1913	32	c.237 others(49): Show c.237-1935_237-1934insGGAGCAGGGCGGAGAGAGATGGGGGGGC AGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGGGGC others(25): Show TGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp2 HG02922.hp1 others(2): Show HG01109.hp1 HG02818.hp2 HG02922.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0027 a0002c0025 a0003c0008 a0001c0027 a0002c0025 a0003c0008	a0001c0027t0015 a0002c0025t0001 a0003c0008t0006 a0001c0027t0015 a0002c0025t0001 a0003c0008t0006	a0001c0027t0015g0091 a0002c0025t0001g0090 a0002c0025t0001g0092 others(2): Show a0001c0027t0015g0091 a0002c0025t0001g0090 a0002c0025t0001g0092 a0003c0008t0006g0084 a0003c0008t0006g0085	5	153	0.0327	32	c.237 others(49): Show c.237-1935_237-1934insGGGGCAGGGCGGAGAGAGATGGGGGGGC AGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601979	C C	CCCTCTCT others(25): Show CCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp2 NA19043.hp1 HG01346.hp2 HG02145.hp2 NA19043.hp1	a0002 a0003 a0024 a0002 a0003 a0024	a0002c0032 a0003c0005 a0024c0042 a0002c0032 a0003c0005 a0024c0042	a0002c0032t0001 a0003c0005t0053 a0024c0042t0005 a0002c0032t0001 a0003c0005t0053 a0024c0042t0005	a0002c0032t0001g0231 a0003c0005t0053g0142 a0024c0042t0005g0076 a0002c0032t0001g0231 a0003c0005t0053g0142 a0024c0042t0005g0076	3	116	0.0259	32	c.482 others(49): Show c.482+1329_482+1330insCTCTCCCTCCCTCCCTCCCTTCCTTCCT TCCT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar

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