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
C4orf17_chr4_99506021_99547303	99506622	TTTCTTTT others(41): Show TTTCTTTTCTTTCTTTCTGTCTTTCTGTCTGTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02896.hp1 HG02280.hp1 HG02896.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0071 a0002c0004t0001g0070 a0002c0004t0001g0071	2	378	0.0053	-48	c.-47 others(59): Show c.-4743_-4696delTTCTTTTCTTTCTTTCTGTCTTTCTGTCTGTCTT TCTTTCTTTCTTTC	C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding		4398		chr4	TogoVar
C7orf50_chr7_992006_1143247	1039187	GGGGGTGT others(41): Show GGGGGTGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	324	0.0031	-48	c.130 others(67): Show c.130-29092_130-29045delACCTCCCTCCCGGACGGGGCAGCTGG CCGGGCGGGGGGCTGACACCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1090561	GGGGTGAC others(41): Show GGGGTGACACGGGGCGGGTGACGGGACCTCTCCACTGGCGGCAGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0324 a0001c0001t0019g0325 a0001c0001t0019g0324 a0001c0001t0019g0325	2	323	0.0062	-48	c.129 others(67): Show c.129+36648_129+36695delTGGCTCTGCCGCCAGTGGAGAGGTCC CGTCACCCGCCCCGTGTCACCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1107800	TGGAGGAA others(41): Show TGGAGGAAGCAGAGGAGGGCTGTGTCCCACACTGGAGACCCGCACCCCG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp2 HG02451.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0293 a0002c0002t0003g0288 a0001c0001t0003g0293 a0002c0002t0003g0288	2	323	0.0062	-48	c.129 others(67): Show c.129+19409_129+19456delCGGGGTGCGGGTCTCCAGTGTGGGAC ACAGCCCTCCTCTGCTTCCTCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1107911	AGGGCTGT others(41): Show AGGGCTGTGTCCCACACTGGAGACCCGCACCCCGGGAGGAAGCAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG03471.hp2 HG02055.hp1 HG02280.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0269 a0001c0001t0003g0281 a0001c0001t0008g0129 a0001c0001t0003g0269 a0001c0001t0003g0281 a0001c0001t0008g0129	3	323	0.0093	-48	c.129 others(67): Show c.129+19298_129+19345delCCCTCTGCTTCCTCCCGGGGTGCGGG TCTCCAGTGTGGGACACAGCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1107924	ACACTGGA others(41): Show ACACTGGAGACCCGCACCCCGGGAGGAAGCAGAGGGGGGCTGTGTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 others(84): Show HG00099.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18943.hp2 NA18955.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18994.hp2 NA19004.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19064.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0002c0002 a0003c0009 others(2): Show a0001c0001 a0002c0002 a0003c0009 a0004c0005 a0009c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0002c0002t0003 a0003c0009t0006 a0004c0005t0008 a0009c0006t0005	a0001c0001t0002g0298 a0001c0001t0003g0247 a0001c0001t0003g0248 others(84): Show a0001c0001t0002g0298 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0304 a0001c0001t0003g0323 a0001c0001t0005g0287 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0297 a0001c0001t0005g0321 a0001c0001t0005g0322 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0001t0007g0118 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0131 a0001c0001t0007g0135 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0008g0116 a0001c0001t0008g0150 a0001c0001t0008g0151 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0009g0117 a0001c0001t0009g0120 a0001c0001t0009g0125 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0148 a0001c0001t0010g0119 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0132 a0001c0001t0010g0133 a0001c0001t0010g0145 a0001c0001t0010g0149 a0001c0001t0012g0289 a0001c0001t0014g0156 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174 a0001c0001t0017g0098 a0001c0001t0021g0088 a0001c0001t0025g0163 a0001c0001t0026g0175 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0003c0009t0006g0003 a0004c0005t0008g0167 a0009c0006t0005g0296	87	305	0.2852	-48	c.129 others(67): Show c.129+19285_129+19332delCGGGACACAGCCCCCCTCTGCTTCCT CCCGGGGTGCGGGTCTCCAGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127903	CGTCACCC others(41): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02486.hp2 HG06807.hp1 HG02155.hp2 HG02486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0060 a0001c0001t0001g0102 a0001c0001t0001g0103	3	282	0.0106	-48	c.-1- others(61): Show c.-1-565_-1-518delAGGGTGGGATGAGCCGAGATGGCGCCACTGCA CTCCAGCCCGGGTGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127929	GCCATCTC others(41): Show GCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	297	0.0034	-48	c.-1- others(61): Show c.-1-591_-1-544delTGCCACTGCACTCCAGCCCGGGTGACAGGGTG GGATGAGCCGAGATGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127931	CATCTCGG others(41): Show CATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 HG03486.hp1 others(1): Show HG02970.hp1 HG03195.hp2 HG03486.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0319 others(1): Show a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0319 a0002c0002t0003g0320	4	284	0.0141	-48	c.-1- others(61): Show c.-1-593_-1-546delCGTGCCACTGCACTCCAGCCCGGGTGACAGGG TGGGATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128953	CATCTCGG others(41): Show CATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG02895.hp2 others(4): Show HG01109.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020	a0001c0001t0001g0023 a0001c0001t0005g0308 a0001c0001t0011g0306 others(4): Show a0001c0001t0001g0023 a0001c0001t0005g0308 a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0020g0001	7	299	0.0234	-48	c.-1- others(63): Show c.-1-1615_-1-1568delCGTGCCACTGCACTCCAGCCCGGGTGACAG GGTGGGATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129461	CATCTCGG others(41): Show CATCTCGGCTCATCCCACCCTGTCACTCGGGCTGCAGTGCAGTGGCACA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01358.hp2 HG02109.hp2 others(20): Show HG01167.hp2 HG01358.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG04228.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp2 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA20129.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0005 a0008c0007 a0001c0001 a0004c0005 a0008c0007	a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 others(3): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0025 a0004c0005t0008 a0008c0007t0008	a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 others(20): Show a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0162 a0001c0001t0008g0150 a0001c0001t0008g0151 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0014g0156 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174 a0001c0001t0025g0163 a0004c0005t0008g0167 a0008c0007t0008g0161	23	324	0.0710	-48	c.-1- others(63): Show c.-1-2123_-1-2076delTGTGCCACTGCACTGCAGCCCGAGTGACAG GGTGGGATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp2 NA19062.hp1 NA18963.hp1 NA18963.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0151 a0001c0002t0001g0023 a0001c0002t0001g0101 a0001c0001t0002g0151 a0001c0002t0001g0023 a0001c0002t0001g0101	3	28	0.1071	-48	c.279 others(67): Show c.279+52113_279+52160delATATATATATATATATATATATATAT ATATATATATATATATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CABIN1_chr22_24006304_24183628	24011117	ACACACGC others(41): Show ACACACGCACACGCACACGCGCACGCGCGCACACACGCGCACACACGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0246 a0001c0010t0008g0246	1	76	0.0132	-48	c.-32 others(57): Show c.-324_-277delCACACGCACACGCACACGCGCACGCGCGCACACACG CGCACACACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		186		chr22	TogoVar
CABLES1_chr18_23130485_23265470	23178365	CGACCCTG others(41): Show CGACCCTGGGCTGGCCGCCTGATGTCCTGATACCCTAAGGCTGTCCAGG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	276	0.0036	-48	c.846 others(67): Show c.846-10414_846-10367delTGGCCGCCTGATGTCCTGATACCCTA AGGCTGTCCAGGGACCCTGGGC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218258	ACATCCTC others(41): Show ACATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA21309.hp2 HG02630.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0010 a0001c0001t0002 a0002c0002t0010	a0001c0001t0002g0116 a0002c0002t0010g0113 a0001c0001t0002g0116 a0002c0002t0010g0113	2	241	0.0083	-48	c.108 others(67): Show c.1088+4270_1088+4317delCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218372	GCTCCCGC others(41): Show GCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02083.hp2 NA18965.hp2 others(6): Show HG02055.hp1 HG02083.hp2 NA18965.hp2 NA18968.hp1 NA18975.hp1 NA18988.hp2 NA18998.hp2 NA19011.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0002c0002t0003	a0001c0001t0004g0176 a0001c0001t0004g0203 a0001c0001t0004g0229 others(6): Show a0001c0001t0004g0176 a0001c0001t0004g0203 a0001c0001t0004g0229 a0001c0001t0004g0236 a0001c0001t0004g0245 a0001c0001t0005g0202 a0001c0001t0007g0001 a0002c0002t0003g0122 a0002c0002t0003g0124	9	215	0.0419	-48	c.108 others(67): Show c.1088+4342_1088+4389delGTTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218492	CCTCCCGC others(41): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02630.hp2 HG02809.hp2 others(1): Show HG02040.hp1 HG02630.hp2 HG02809.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0002g0116 a0001c0001t0003g0262 a0001c0001t0022g0110 others(1): Show a0001c0001t0002g0116 a0001c0001t0003g0262 a0001c0001t0022g0110 a0001c0001t0022g0111	4	253	0.0158	-48	c.108 others(67): Show c.1088+4486_1088+4533delGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218540	GCTCCCGC others(41): Show GCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	177	0.0056	-48	c.108 others(67): Show c.1088+4510_1088+4557delCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218564	CCTCCCGC others(41): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp1 HG03471.hp1 HG01175.hp1 HG01243.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0047 a0001c0004t0010 a0001c0001t0004 a0001c0001t0047 a0001c0004t0010	a0001c0001t0004g0234 a0001c0001t0047g0010 a0001c0004t0010g0101 a0001c0001t0004g0234 a0001c0001t0047g0010 a0001c0004t0010g0101	3	235	0.0128	-48	c.108 others(67): Show c.1088+4588_1088+4635delGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1A_chr19_13201442_13511479	13497515	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0117 a0002c0117	a0002c0117t0001 a0002c0117t0001	a0002c0117t0001g0072 a0002c0117t0001g0072	1	207	0.0048	-48	c.293 others(65): Show c.293+8369_293+8416delATATATATATATATATATATATATATAT ATATATATATATATTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1199341	CGTGCGGT others(41): Show CGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACG	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	336	0.0030	-48	c.803 others(63): Show c.803+615_803+662delGGTGCGGTCGCTGCACATATGCCCCACCCC CATCATGGCTCCGCCCAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54763812	CATATATA others(41): Show CATATATATATACGTATATATATGTATATATATGTACATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0106 a0001c0025t0004g0106	1	43	0.0233	-48	c.124 others(65): Show c.1247-396_1247-349delTACGTATATATATGTATATATATGTACA TATATATACATATATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18442922	ATATGTAT others(41): Show ATATGTATATATATATATATGTGTATATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0029 a0001c0001t0012g0029	1	200	0.0050	-48	c.333 others(67): Show c.333+40881_333+40928delATGTATATATATATATATGTGTATAT ATATATATGTATATATATATGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442922	ATATGTAT others(41): Show ATATGTATATATATATATATGTGTATATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	297	0.0034	-48	c.171 others(67): Show c.171+40881_171+40928delATGTATATATATATATATGTGTATAT ATATATATGTATATATATATGT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151875649	GGGGCGGC others(41): Show GGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02145.hp2 HG02647.hp2 others(2): Show HG02015.hp2 HG02145.hp2 HG02647.hp2 HG03491.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0010 a0001c0002t0002 others(2): Show a0001c0001t0004 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009	a0001c0001t0004g0001 a0001c0001t0010g0137 a0001c0002t0002g0070 others(2): Show a0001c0001t0004g0001 a0001c0001t0010g0137 a0001c0002t0002g0070 a0001c0002t0003g0155 a0001c0002t0009g0044	5	230	0.0217	-48	c.521 others(63): Show c.521+729_521+776delGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36679173	CCTTCCTT others(41): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	212	0.0047	-48	c.211 others(67): Show c.211+23145_211+23192delAAAGAAAGAAAGAAAGAAAGAAAGGA AGGAAGGAAGGAAGGAAGGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG7_chr19_53904278_53948950	53906054	CCTCCTCC others(41): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00609.hp1 others(21): Show HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00741.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA18747.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18982.hp2 NA18995.hp1 NA19000.hp1 NA19010.hp1 NA19011.hp2 NA19062.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0044 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0253 a0001c0001t0002g0082	24	364	0.0659	-48	c.-34 others(59): Show c.-3492_-3445delCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTC TTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3223		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906057	CCTCCTCC others(41): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	363	0.0028	-48	c.-34 others(59): Show c.-3489_-3442delCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTC TTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3220		chr19	TogoVar
CACTIN_chr19_3605645_3631790	3617583	TAGGAGAG others(41): Show TAGGAGAGGCCGGGCCCAGGGCAACGCTGGAAACGCCTCCCAGTCTTAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA21309.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0038 a0001c0004t0004g0038	2	406	0.0049	-48	c.116 others(67): Show c.1162+1244_1162+1291delGTAAGACTGGGAGGCGTTTCCAGCGT TGCCCTGGGCCCGGCCTCTCCT	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding	6/9			chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12691356	TATATATA others(41): Show TATATATATATATATATATATAAATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0035 a0001c0001t0089g0035	1	208	0.0048	-48	c.299 others(67): Show c.299+24565_299+24612delATAAATATATATATATATATATATAT ATAAATATATATATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44409080	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG01169.hp1 others(7): Show HG00621.hp2 HG01081.hp2 HG01169.hp1 HG01891.hp2 HG02895.hp1 HG03490.hp2 HG03492.hp1 NA18946.hp1 NA19060.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0137 others(7): Show a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0184 a0001c0001t0001g0195	10	153	0.0654	-48	c.376 others(67): Show c.376+18830_376+18877delATATATATATATATATATATATATAT ATATATATATATATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200817213	CACACATA others(41): Show CACACATATGTGTGTGTATATACACACATACACACATATGTGTGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0016 a0004c0006t0016	a0004c0006t0016g0008 a0004c0006t0016g0008	1	364	0.0027	-48	c.645 others(65): Show c.645+1571_645+1618delCACATATGTGTGTGTATATACACACATA CACACATATGTGTGTGTATA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7605663	CCTGGCTC others(41): Show CCTGGCTCCTCCCCTCAAGCGCTATTAAGCCTAGTTCCTCCCACGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG01496.hp1 others(3): Show HG00735.hp2 HG01361.hp2 HG01496.hp1 HG02273.hp2 NA18986.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0101 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0113	6	356	0.0169	-48	c.402 others(63): Show c.402+209_402+256delTAAGCCTAGTTCCTCCCACGAGGTCTGGCT CCTCCCCTCAAGCGCTAT	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAPZA1_chr1_112614832_112676616	112639865	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(105): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02818.hp1 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03710.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0003t0005	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(101): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0008g0224 a0001c0003t0005g0254 a0001c0003t0005g0255 a0001c0003t0005g0257	108	366	0.2951	-48	c.40- others(63): Show c.40-7338_40-7291delTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGG	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116890523	AAAATATA others(41): Show AAAATATATATATATATATATATATATATATATATATATATATATACAC	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	349	0.0029	-48	c.103 others(65): Show c.103+2335_103+2382delAATATATATATATATATATATATATATA TATATATATATATATACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890559	TATATATA others(41): Show TATATATATACACATATATATATATATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 NA19000.hp2 others(2): Show HG00280.hp1 HG01099.hp1 NA19000.hp2 NA19063.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0017 others(1): Show a0001c0002t0003 a0001c0002t0008 a0001c0002t0017 a0001c0002t0043	a0001c0002t0003g0039 a0001c0002t0003g0066 a0001c0002t0008g0085 others(2): Show a0001c0002t0003g0039 a0001c0002t0003g0066 a0001c0002t0008g0085 a0001c0002t0017g0065 a0001c0002t0043g0035	5	346	0.0145	-48	c.103 others(65): Show c.103+2371_104-2386delTATATATACACATATATATATATATATA TATATATATACACACACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CARD11_chr7_2901142_3048867	2969839	TATTCACT others(41): Show TATTCACTCACTCATCCATTAACTCATTCACTCACTCATCCACTCATCC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19079.hp2 NA18995.hp1 NA19079.hp2	a0001 a0006 a0001 a0006	a0001c0009 a0006c0026 a0001c0009 a0006c0026	a0001c0009t0002 a0006c0026t0001 a0001c0009t0002 a0006c0026t0001	a0001c0009t0002g0135 a0006c0026t0001g0170 a0001c0009t0002g0135 a0006c0026t0001g0170	2	316	0.0063	-48	c.-12 others(69): Show c.-125-11256_-125-11209delGGATGAGTGGATGAGTGAGTGAAT GAGTTAATGGATGAGTGAGTGAAT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARS1_chr11_2995929_3062423	3007016	CAGTGCCT others(41): Show CAGTGCCTCCTCCAGTGCTGGGGAAGGAGGGGCCGTGGCCCACAGAACA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01099.hp2 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0151 a0001c0002t0001g0105 a0001c0002t0001g0151	2	320	0.0063	-48	c.206 others(64): Show c.2069-105_2069-58delTGTTCTGTGGGCCACGGCCCCTCCTTCCC CAGCACTGGAGGAGGCACT	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	18/22			chr11	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	28	0.0357	-48	c.172 others(67): Show c.172+23371_172+23418delATATATATATATATATATATATATAT ATATATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASZ1_chr1_10631604_10801646	10744344	CGGCACCA others(41): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp1 HG01993.hp2 others(2): Show HG00597.hp1 HG01069.hp1 HG01993.hp2 NA19005.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0027 others(2): Show a0001c0001 a0001c0003 a0001c0027 a0002c0010 a0002c0028	a0001c0001t0001 a0001c0003t0005 a0001c0027t0011 others(2): Show a0001c0001t0001 a0001c0003t0005 a0001c0027t0011 a0002c0010t0036 a0002c0028t0037	a0001c0001t0001g0089 a0001c0003t0005g0004 a0001c0027t0011g0189 others(2): Show a0001c0001t0001g0089 a0001c0003t0005g0004 a0001c0027t0011g0189 a0002c0010t0036g0208 a0002c0028t0037g0068	5	111	0.0450	-48	c.-77 others(67): Show c.-77+16309_-77+16356delCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(48): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01978.hp2 HG02015.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18945.hp1 NA18984.hp1 NA18989.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19062.hp1 NA19081.hp2	a0001 a0004 a0009 others(2): Show a0001 a0004 a0009 a0010 a0011	a0001c0002 a0001c0003 a0001c0007 others(5): Show a0001c0002 a0001c0003 a0001c0007 a0001c0018 a0004c0023 a0009c0017 a0010c0012 a0011c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0007t0001 a0001c0018t0003 a0004c0023t0001 a0009c0017t0001 a0010c0012t0002 a0011c0014t0004	a0001c0002t0001g0032 a0001c0002t0001g0046 a0001c0002t0001g0052 others(48): Show a0001c0002t0001g0032 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0011 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0062 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0111 a0001c0002t0002g0140 a0001c0002t0003g0143 a0001c0002t0003g0148 a0001c0002t0003g0158 a0001c0002t0003g0204 a0001c0002t0004g0173 a0001c0002t0004g0184 a0001c0002t0004g0187 a0001c0002t0004g0191 a0001c0002t0004g0203 a0001c0003t0001g0031 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0087 a0001c0003t0001g0089 a0001c0003t0001g0147 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0002g0006 a0001c0003t0002g0014 a0001c0003t0002g0018 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0030 a0001c0003t0002g0083 a0001c0003t0003g0190 a0001c0003t0004g0172 a0001c0007t0001g0003 a0001c0007t0001g0144 a0001c0007t0001g0146 a0001c0018t0003g0142 a0004c0023t0001g0077 a0009c0017t0001g0145 a0010c0012t0002g0037 a0011c0014t0004g0161	51	53	0.9623	-48	c.201 others(65): Show c.2010-934_2010-887delTATATATATATATATATATATATATATA TATATATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116555494	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0069	1	340	0.0029	-48	c.196 others(65): Show c.196-3424_196-3377delGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp1 others(64): Show HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02083.hp1 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18982.hp2 NA18988.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0021 a0001c0001t0033 others(4): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0003t0001	a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0220 others(64): Show a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0298 a0001c0001t0021g0250 a0001c0001t0021g0268 a0001c0001t0033g0054 a0001c0001t0041g0277 a0001c0001t0042g0197 a0001c0001t0043g0222 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0237 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0257 a0001c0003t0001g0270 a0001c0003t0001g0281 a0001c0003t0001g0297	67	99	0.6768	-48	c.148 others(65): Show c.1489-577_1489-530delTATATATATATATATATATATATATATA TATATATATATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88889787	ACGCGATT others(41): Show ACGCGATTCCTCCTCCTCCAGGGACACTTCAAATCCCTGGACGATGCCC	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18986.hp2 NA19004.hp1 others(5): Show NA18950.hp2 NA18986.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0003t0001g0246 a0001c0003t0004g0232 a0001c0003t0004g0233	8	282	0.0284	-48	c.711 others(65): Show c.711+2047_711+2094delGGGCATCGTCCAGGGATTTGAAGTGTCC CTGGAGGAGGAGGAATCGCG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88890003	TTTCAAAT others(41): Show TTTCAAATCCCTGGACGATGCCCCGCGATTCCTCCTCCTCCAGGGGACG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	282	0.0035	-48	c.711 others(65): Show c.711+1831_711+1878delCGTCCCCTGGAGGAGGAGGAATCGCGGG GCATCGTCCAGGGATTTGAA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBS_chr21_43048191_43080835	43078032	AGCTCACT others(41): Show AGCTCACTGCAACCTCCCCCCCACGCTGGAGTGCAGTGGTGTGATTTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01255.hp1 HG02280.hp1 others(4): Show HG00099.hp1 HG01255.hp1 HG02280.hp1 HG03017.hp2 HG03139.hp1 NA19003.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001	a0001c0001t0002g0002 a0001c0001t0002g0175 a0001c0001t0003g0103 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0175 a0001c0001t0003g0103 a0001c0002t0001g0045 a0001c0002t0001g0104 a0001c0004t0001g0019	7	298	0.0235	-48	c.-23 others(59): Show c.-2395_-2348delCGAAATCACACCACTGCACTCCAGCGTGGGGGGG AGGTTGCAGTGAGC	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding		2198		chr21	TogoVar
CBX2_chr17_79773148_79792983	79786720	GACTATAG others(41): Show GACTATAGGGAGGCACTCCTGATTCCATGGAGCAGCCCGGACTTTGAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0107 a0001c0002t0033g0107	1	464	0.0022	-48	c.16 others(59): Show c.1680_*1727delCTATAGGGAGGCACTCCTGATTCCATGGAGCAGC CCGGACTTTGAGAA	CBX2	ENSG00000173894.11	transcript	ENST00000310942.9	protein_coding	5/5	1680	INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC126_chr7_23592382_23649708	23637431	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01261.hp2 others(32): Show HG01099.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02698.hp1 HG03195.hp2 HG03225.hp2 HG03654.hp2 HG04115.hp1 NA18952.hp2 NA18953.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18977.hp1 NA18986.hp1 NA18997.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19055.hp1 NA19062.hp1 NA19074.hp2 NA19086.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022	a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 others(32): Show a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0214 a0001c0001t0015g0164 a0001c0001t0018g0108 a0001c0001t0022g0372	35	378	0.0926	-48	c.239 others(65): Show c.239-5493_239-5446delTCAGCCCCCCGCCCGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGG	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC148_chr2_158166073_158461753	158293974	CCCCCCCC others(41): Show CCCCCCCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	262	0.0038	-48	c.111 others(69): Show c.1110+15411_1110+15458delAGGAAGGAAGGAAGGAAGGAGGGA GGGAGGGAGGGAGGGAGGGGGGGG	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	9/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158293986	CTCCCTCC others(41): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	250	0.0040	-48	c.111 others(69): Show c.1110+15399_1110+15446delAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAGGGAGGGAGGGAGGGA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	9/13			chr2	TogoVar

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