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
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01361.hp2 HG02083.hp1 others(11): Show HG00438.hp2 HG01361.hp2 HG02083.hp1 HG02132.hp1 NA18945.hp2 NA18963.hp1 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA19065.hp2 NA19068.hp2 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0029 a0001c0001t0040	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0028 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0139 a0001c0001t0014g0014 a0001c0001t0029g0064 a0001c0001t0040g0105	14	63	0.2222	26	c.20 others(37): Show c.2054_*2055insTTTTTTTTTTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf153_chr9_86215265_86264657	86251914	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	88	0.0114	26	c.-27 others(43): Show c.-27+7610_-27+7635dupGTGTGTGTGTGTGTGTGTGTGTGTGT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
CA10_chr17_51625320_52163714	51707671	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	15	0.0667	26	c.465 others(45): Show c.465+39936_465+39961dupCACACACACACACACACACACACACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51874964	T T	TCTTTTCT others(19): Show TCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp1 NA20300.hp1 HG02818.hp2 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0002g0075 a0001c0001t0004g0147 a0001c0001t0011g0155 a0001c0001t0002g0075 a0001c0001t0004g0147 a0001c0001t0011g0155	3	91	0.0330	26	c.279 others(45): Show c.279+56025_279+56026insGAAAAGAAAAGAAAAGAAAAGAAAAG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA12_chr15_63316378_63386846	63376557	C C	CTTCTTTC others(19): Show CTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	147	0.0068	26	c.86- others(39): Show c.86-880_86-879insAAAGAAAGAAAGAAAGAAAGAAAGAA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01934.hp2 HG01952.hp2 others(10): Show HG00733.hp1 HG01934.hp2 HG01952.hp2 HG02486.hp2 HG02922.hp1 NA18906.hp1 NA18940.hp1 NA18945.hp1 NA18966.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0054 a0001c0003t0024	a0001c0001t0001g0145 a0001c0001t0001g0217 a0001c0001t0001g0222 others(10): Show a0001c0001t0001g0145 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0004g0137 a0001c0001t0004g0221 a0001c0001t0020g0220 a0001c0001t0054g0275 a0001c0003t0024g0138	13	233	0.0558	26	c.86- others(39): Show c.86-923_86-922insGAAAGAAAGAAAGAAAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA4_chr17_60144973_60164546	60163833	C C	CAAGATTT others(19): Show CAAGATTTAGTCTTTCAGCCAGGCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	378	0.0026	26	c.44 others(37): Show c.4409_*4410insAAGATTTAGTCTTTCAGCCAGGCGCA	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding		4288		chr17	TogoVar
CA5A_chr16_87883013_87941529	87937799	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02647.hp2 others(2): Show HG01891.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp1 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0008 a0001c0001 a0001c0003 a0004c0008	a0001c0001t0001 a0001c0003t0002 a0004c0008t0001 a0001c0001t0001 a0001c0003t0002 a0004c0008t0001	a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0360 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0360 a0001c0003t0002g0042 a0004c0008t0001g0051	5	361	0.0139	26	c.-13 others(37): Show c.-1350_-1349insAAGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1271		chr16	TogoVar
CA5A_chr16_87883013_87941529	87937801	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	393	0.0025	26	c.-13 others(37): Show c.-1352_-1351insGAAAGAAAGAAAGAAAGAAAGAAAGA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1273		chr16	TogoVar
CA5B_chrX_15733270_15793411	15747899	A A	AGAGAGGA others(19): Show AGAGAGGAGAGCAGCTCTTTCTCTTGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02886.hp1 others(3): Show HG02258.hp1 HG02647.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 others(3): Show a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0101	6	271	0.0221	26	c.-53 others(43): Show c.-53-2054_-53-2029dupTTCTCTTGCGAGAGGAGAGCAGCTCT	CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(19): Show CACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0164 a0003c0006t0001g0164	1	32	0.0313	26	c.501 others(43): Show c.501+1788_501+1789insCACACACACACACACATATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03017.hp1 HG03098.hp2 others(2): Show HG01106.hp1 HG03017.hp1 HG03098.hp2 NA19043.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0005 a0001c0001t0002 a0001c0001t0006 a0001c0002t0005	a0001c0001t0002g0257 a0001c0001t0006g0191 a0001c0002t0005g0024 others(2): Show a0001c0001t0002g0257 a0001c0001t0006g0191 a0001c0002t0005g0024 a0001c0002t0005g0081 a0001c0002t0005g0117	5	207	0.0242	26	c.36 others(41): Show c.36-973_*36-972insGTGTGTATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0001t0024g0283 a0001c0001t0024g0284	2	204	0.0098	26	c.36 others(41): Show c.36-973_*36-972insGTGTATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG02280.hp1 others(1): Show HG01192.hp2 HG01496.hp2 HG02280.hp1 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0022 a0002c0003t0001g0030 a0002c0003t0001g0001 a0002c0003t0001g0022 a0002c0003t0001g0030	4	321	0.0125	26	c.666 others(45): Show c.666-11415_666-11414insATATATATATATATATATATATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GAGATATA others(19): Show GAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03927.hp1 HG01081.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0217 a0001c0002t0001g0080 a0001c0002t0001g0217	2	164	0.0122	26	c.565 others(43): Show c.565-1863_565-1862insATATATATATATATATATATATATCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(19): Show GATATATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	163	0.0061	26	c.565 others(43): Show c.565-1863_565-1862insATATATATATATATATATCTATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00597.hp1 others(8): Show HG00140.hp1 HG00408.hp2 HG00597.hp1 HG02083.hp2 NA18747.hp2 NA18963.hp1 NA18970.hp1 NA18988.hp1 NA18994.hp1 NA19065.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0076 a0001c0002t0001g0225 a0001c0002t0001g0302 others(8): Show a0001c0002t0001g0076 a0001c0002t0001g0225 a0001c0002t0001g0302 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0002g0074 a0001c0002t0002g0092 a0001c0002t0002g0195 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0003g0037	11	173	0.0636	26	c.565 others(43): Show c.565-1863_565-1862insATATATATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show HG02109.hp2 HG02145.hp2 HG03041.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0273 a0001c0001t0002g0272 a0001c0001t0002g0274 others(1): Show a0001c0001t0001g0273 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0004g0271	4	191	0.0209	26	c.-24 others(45): Show c.-246+2764_-246+2765insTATATATATATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp2 HG02257.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0285 a0001c0001t0002g0286	2	189	0.0106	26	c.-24 others(45): Show c.-246+2764_-246+2765insTATATATATATATATATATATATACA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00099.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0290 a0001c0001t0002g0262 a0001c0001t0001g0290 a0001c0001t0002g0262	2	150	0.0133	26	c.-43 others(45): Show c.-43-11116_-43-11091dupTATATATATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	43	0.0233	26	c.346 others(39): Show c.346-52_346-27dupGTGTGTGTGTGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0122 a0003c0004t0004g0122	1	200	0.0050	26	c.20 others(37): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(19): Show AGGGCGGGGGGGCGGCGGGGGCGGCGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG04204.hp1 HG02165.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0109 a0001c0001t0002g0043 a0001c0001t0002g0109	2	335	0.0060	26	c.121 others(41): Show c.121+295_121+296insCGGGGGCGGGGGGGCGGCGGGGGCGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64466429	T T	TATATATA others(19): Show TATATATACACATATGTATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01109.hp2 others(33): Show HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG02056.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03942.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18962.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0009	a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0056 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0128 a0001c0001t0001g0157 a0001c0001t0002g0131 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0003g0028 a0001c0001t0003g0091 a0001c0001t0003g0155 a0001c0001t0003g0162 a0001c0001t0004g0002 a0001c0001t0004g0005 a0001c0001t0006g0122 a0001c0001t0010g0046 a0001c0001t0010g0114 a0001c0001t0011g0006 a0001c0001t0015g0095 a0001c0001t0016g0109 a0001c0002t0001g0042 a0001c0002t0002g0153 a0001c0002t0004g0003 a0001c0002t0004g0007 a0001c0004t0009g0115 a0001c0004t0009g0121	36	161	0.2236	26	c.-43 others(37): Show c.-4316_-4315insATATATACACATATGTATATATACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3699		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64477629	A A	ATTTATTT others(19): Show ATTTATTTATTTATTTTTTTTTTTATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02258.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0015 a0001c0001t0013g0014 a0001c0001t0002g0015 a0001c0001t0013g0014	2	163	0.0123	26	c.198 others(43): Show c.198+6690_198+6691insATTTATTTATTTTTTTTTTTATTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64512393	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA21309.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0029 a0001c0001t0010g0046 a0001c0001t0002g0029 a0001c0001t0010g0046	2	21	0.0952	26	c.199 others(45): Show c.199-38200_199-38175dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp1 HG02615.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0142 a0001c0002t0001g0158 a0001c0001t0002g0142 a0001c0002t0001g0158	2	16	0.1250	26	c.199 others(43): Show c.199-7168_199-7167insATATATATATATATATATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64606106	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG02896.hp1 others(1): Show HG00639.hp1 HG01175.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0126 others(1): Show a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0126 a0001c0003t0001g0127	4	84	0.0476	26	c.517 others(43): Show c.517+3218_517+3219insACACACACACACACACACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13222479	T T	TCTGCCTC others(19): Show TCTGCCTCTCGGGTTCAAGCAATTCTC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	216	0.0046	26	c.573 others(45): Show c.5731+2162_5731+2187dupGAGAATTGCTTGAACCCGAGAGGCAG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG02630.hp2 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0058 a0001c0005 a0001c0058	a0001c0005t0001 a0001c0058t0001 a0001c0005t0001 a0001c0058t0001	a0001c0005t0001g0020 a0001c0058t0001g0083 a0001c0005t0001g0020 a0001c0058t0001g0083	2	163	0.0123	26	c.166 others(45): Show c.1669-1958_1669-1957insATATATATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03130.hp1 HG00438.hp2 HG03130.hp1	a0004 a0021 a0004 a0021	a0004c0007 a0021c0028 a0004c0007 a0021c0028	a0004c0007t0001 a0021c0028t0002 a0004c0007t0001 a0021c0028t0002	a0004c0007t0001g0146 a0021c0028t0002g0084 a0004c0007t0001g0146 a0021c0028t0002g0084	2	81	0.0247	26	c.166 others(45): Show c.1669-1962_1669-1961insATATATATATATATATATATATATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(19): Show GGAGAGAGAGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01975.hp1 others(6): Show HG01081.hp2 HG01256.hp1 HG01975.hp1 HG01978.hp2 HG02129.hp1 HG02602.hp2 HG02717.hp1 HG04204.hp1 NA18522.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0008 a0013	a0001c0001 a0001c0072 a0004c0047 others(4): Show a0001c0001 a0001c0072 a0004c0047 a0005c0022 a0007c0012 a0008c0011 a0013c0048	a0001c0001t0001 a0001c0072t0003 a0004c0047t0001 others(4): Show a0001c0001t0001 a0001c0072t0003 a0004c0047t0001 a0005c0022t0001 a0007c0012t0002 a0008c0011t0002 a0013c0048t0001	a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0072t0003g0212 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0072t0003g0212 a0004c0047t0001g0178 a0005c0022t0001g0108 a0007c0012t0002g0016 a0007c0012t0002g0091 a0008c0011t0002g0113 a0013c0048t0001g0140	9	55	0.1636	26	c.979 others(41): Show c.979-686_979-685insTCTCTCTCTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02698.hp2 NA18747.hp2 others(4): Show HG02056.hp2 HG02698.hp2 NA18747.hp2 NA18980.hp1 NA18995.hp2 NA19065.hp2 NA19079.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0006 a0002c0002 a0002c0082 others(4): Show a0001c0006 a0002c0002 a0002c0082 a0003c0116 a0004c0007 a0006c0009 a0006c0100	a0001c0006t0001 a0002c0002t0002 a0002c0082t0002 others(4): Show a0001c0006t0001 a0002c0002t0002 a0002c0082t0002 a0003c0116t0004 a0004c0007t0001 a0006c0009t0002 a0006c0100t0006	a0001c0006t0001g0033 a0002c0002t0002g0095 a0002c0082t0002g0060 others(4): Show a0001c0006t0001g0033 a0002c0002t0002g0095 a0002c0082t0002g0060 a0003c0116t0004g0111 a0004c0007t0001g0098 a0006c0009t0002g0055 a0006c0100t0006g0037	7	92	0.0761	26	c.785 others(41): Show c.785-467_785-466insTATATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413881	G G	GAAAAGAA others(19): Show GAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0202 a0001c0005t0001g0202	1	199	0.0050	26	c.539 others(45): Show c.539+38994_539+38995insTCTTTTCTTTTCTTTTCTTTTCTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	30	0.0333	26	c.539 others(45): Show c.539+37107_539+37132dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04204.hp1 HG00544.hp2 HG04204.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0008c0011 a0002c0003 a0008c0011	a0002c0003t0002 a0008c0011t0002 a0002c0003t0002 a0008c0011t0002	a0002c0003t0002g0056 a0008c0011t0002g0113 a0002c0003t0002g0056 a0008c0011t0002g0113	2	17	0.1176	26	c.539 others(45): Show c.539+19415_539+19416insTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02109.hp2 HG02451.hp2 others(5): Show HG01515.hp2 HG02109.hp2 HG02451.hp2 HG03209.hp2 HG03225.hp2 NA18947.hp2 NA18991.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0017 a0001c0018 others(1): Show a0001c0002 a0001c0017 a0001c0018 a0002c0001	a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 others(4): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0017t0016 a0001c0018t0018 a0002c0001t0002	a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0008g0052 others(5): Show a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0008g0052 a0001c0002t0011g0051 a0001c0002t0013g0012 a0001c0017t0016g0119 a0001c0018t0018g0030 a0002c0001t0002g0040	8	132	0.0606	26	c.107 others(43): Show c.1071-818_1071-817insTGTGTGTGTGTGTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG01256.hp1 others(11): Show HG00544.hp2 HG00673.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG02056.hp1 HG02080.hp1 HG02135.hp1 HG03017.hp1 HG03239.hp2 HG04115.hp1 NA18944.hp1 NA18952.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0018 a0002c0004 a0001c0002 a0001c0018 a0002c0004	a0001c0002t0001 a0001c0002t0008 a0001c0002t0037 others(2): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0037 a0001c0018t0018 a0002c0004t0001	a0001c0002t0001g0032 a0001c0002t0001g0056 a0001c0002t0001g0057 others(11): Show a0001c0002t0001g0032 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0068 a0001c0002t0001g0123 a0001c0002t0001g0173 a0001c0002t0008g0241 a0001c0002t0037g0242 a0001c0018t0018g0030 a0002c0004t0001g0017 a0002c0004t0001g0019 a0002c0004t0001g0174 a0002c0004t0001g0176 a0002c0004t0001g0207	14	206	0.0680	26	c.509 others(45): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAAAAAAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0032 a0001c0014t0032	a0001c0014t0032g0023 a0001c0014t0032g0023	1	32	0.0313	26	c.139 others(47): Show c.1391-14235_1391-14210dupAAAAAAAAAAAAAAAAAAAAAAAA AA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA20752.hp1 NA19074.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0008 a0001c0003t0002 a0001c0004t0008	a0001c0003t0002g0093 a0001c0004t0008g0081 a0001c0003t0002g0093 a0001c0004t0008g0081	2	15	0.1333	26	c.122 others(45): Show c.1220+8555_1220+8580dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0012 a0001c0001t0032g0012	1	21	0.0476	26	c.485 others(43): Show c.4852+598_4852+599insGTATATATATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03704.hp2 HG03492.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0059 a0001c0022t0056 a0001c0001t0059 a0001c0022t0056	a0001c0001t0059g0107 a0001c0022t0056g0176 a0001c0001t0059g0107 a0001c0022t0056g0176	2	126	0.0159	26	c.620 others(43): Show c.6208+743_6208+744insATATATATATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49230645	A A	AGGCCTTG others(19): Show AGGCCTTGGGATTCCCCCCTCCACCCT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	288	0.0035	26	c.522 others(39): Show c.522-62_522-37dupAGGGTGGAGGGGGGAATCCCAAGGCC	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	4/47			chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 NA18951.hp2 HG02886.hp1 HG03453.hp1 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0011 a0001c0002 a0001c0008 a0001c0011	a0001c0002t0001 a0001c0008t0001 a0001c0011t0002 a0001c0002t0001 a0001c0008t0001 a0001c0011t0002	a0001c0002t0001g0084 a0001c0008t0001g0130 a0001c0011t0002g0236 a0001c0002t0001g0084 a0001c0008t0001g0130 a0001c0011t0002g0236	3	67	0.0448	26	c.586 others(41): Show c.586+761_586+786dupTGTGTGTGTGTGTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39602032	C C	CCCTCCCT others(19): Show CCCTCCCTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02965.hp1 others(5): Show HG02257.hp1 HG02559.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2	a0001 a0005 a0010 others(2): Show a0001 a0005 a0010 a0021 a0023	a0001c0001 a0001c0034 a0005c0007 others(3): Show a0001c0001 a0001c0034 a0005c0007 a0010c0016 a0021c0052 a0023c0038	a0001c0001t0052 a0001c0034t0028 a0005c0007t0006 others(5): Show a0001c0001t0052 a0001c0034t0028 a0005c0007t0006 a0010c0016t0005 a0010c0016t0015 a0010c0016t0055 a0021c0052t0011 a0023c0038t0001	a0001c0001t0052g0075 a0001c0034t0028g0102 a0005c0007t0006g0112 others(5): Show a0001c0001t0052g0075 a0001c0034t0028g0102 a0005c0007t0006g0112 a0010c0016t0005g0108 a0010c0016t0015g0111 a0010c0016t0055g0109 a0021c0052t0011g0110 a0023c0038t0001g0074	8	234	0.0342	26	c.482 others(43): Show c.482+1379_482+1380insCCTCCCTCCCTCCCTCCTTCCTTCCT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36			chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686609	C C	CATATATA others(19): Show CATATATATATATATGCATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0058 a0004c0004t0058	a0004c0004t0058g0070 a0004c0004t0058g0070	1	172	0.0058	26	c.21 others(35): Show c.218_*219insGCATATATATATATATATATATATAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37	219	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0085 a0001c0001t0007g0081 a0001c0001t0007g0085	2	23	0.0870	26	c.879 others(43): Show c.879+4497_879+4498insTATATATATATATATATATATATACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217390	C C	CACATACA others(19): Show CACATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp1 NA18986.hp2 HG01074.hp2 HG01192.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0037 a0001c0001t0005g0111 a0001c0001t0006g0117 a0001c0001t0001g0037 a0001c0001t0005g0111 a0001c0001t0006g0117	3	135	0.0222	26	c.295 others(45): Show c.295-46782_295-46781insATATATATATATATATATATGTATGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp1 HG02818.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0097 a0001c0001t0001g0012 a0001c0001t0002g0097	2	6	0.3333	26	c.295 others(45): Show c.295-46811_295-46786dupATATATATATATATATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03239.hp1 NA19060.hp1 HG01975.hp2 HG03239.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0005g0096 a0001c0001t0006g0120 a0001c0001t0001g0001 a0001c0001t0005g0096 a0001c0001t0006g0120	3	20	0.1500	26	c.294 others(45): Show c.294+38062_294+38063insTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar

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