Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CARD8_chr19_48203086_48260912	48214769	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0042 a0001c0013t0003g0042	1	3	0.3333	20	c.134 others(37): Show c.1348+551_1348+570dupAAAAAAAAAAAAAAAAAAAA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	13/13			chr19	TogoVar
CARF_chr2_202907275_202993263	202935101	A A	AATATATA others(13): Show AATATATAATTATATATAATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(126): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0045 a0001c0001t0046 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0008t0001 a0001c0011t0006	a0001c0001t0001g0007 a0001c0001t0001g0102 a0001c0001t0001g0106 others(124): Show a0001c0001t0001g0007 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0108 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0124 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0182 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0258 a0001c0001t0005g0008 a0001c0001t0005g0103 a0001c0001t0005g0110 a0001c0001t0005g0115 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0005g0133 a0001c0001t0005g0139 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0176 a0001c0001t0005g0183 a0001c0001t0005g0197 a0001c0001t0005g0206 a0001c0001t0005g0210 a0001c0001t0005g0228 a0001c0001t0006g0005 a0001c0001t0006g0031 a0001c0001t0006g0104 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0134 a0001c0001t0006g0140 a0001c0001t0006g0142 a0001c0001t0006g0200 a0001c0001t0006g0207 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0224 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0279 a0001c0001t0008g0030 a0001c0001t0008g0057 a0001c0001t0008g0114 a0001c0001t0008g0126 a0001c0001t0008g0143 a0001c0001t0008g0198 a0001c0001t0008g0205 a0001c0001t0008g0215 a0001c0001t0008g0236 a0001c0001t0008g0281 a0001c0001t0011g0113 a0001c0001t0011g0131 a0001c0001t0011g0141 a0001c0001t0011g0146 a0001c0001t0011g0178 a0001c0001t0011g0185 a0001c0001t0011g0208 a0001c0001t0011g0211 a0001c0001t0011g0232 a0001c0001t0012g0029 a0001c0001t0012g0118 a0001c0001t0012g0199 a0001c0001t0012g0216 a0001c0001t0012g0223 a0001c0001t0012g0225 a0001c0001t0022g0214 a0001c0001t0022g0298 a0001c0001t0022g0299 a0001c0001t0023g0004 a0001c0001t0023g0187 a0001c0001t0031g0179 a0001c0001t0031g0181 a0001c0001t0032g0296 a0001c0001t0032g0297 a0001c0001t0033g0025 a0001c0001t0033g0027 a0001c0001t0034g0204 a0001c0001t0034g0213 a0001c0001t0045g0221 a0001c0001t0046g0260 a0001c0001t0077g0056 a0001c0001t0078g0026 a0001c0001t0079g0006 a0001c0001t0080g0006 a0001c0001t0081g0137 a0001c0001t0083g0136 a0001c0001t0085g0201 a0001c0001t0087g0184 a0001c0001t0088g0188 a0001c0001t0089g0123 a0001c0001t0090g0186 a0001c0001t0091g0217 a0001c0001t0092g0180 a0001c0008t0001g0285 a0001c0008t0001g0286 a0001c0011t0006g0231	129	331	0.3897	20	c.-43 others(37): Show c.-43-6756_-43-6737dupATATAATTATATATAATTAT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202958249	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 NA18945.hp2 others(1): Show HG00741.hp1 HG01255.hp2 NA18945.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018	a0001c0001t0004g0250 a0001c0001t0004g0270 a0001c0001t0010g0161 others(1): Show a0001c0001t0004g0250 a0001c0001t0004g0270 a0001c0001t0010g0161 a0001c0001t0018g0175	4	124	0.0323	20	c.642 others(37): Show c.642+2503_642+2522dupGTGTGTGTGTGTGTGTGTGT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202980616	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18948.hp2 NA18986.hp1 others(1): Show HG03516.hp1 NA18948.hp2 NA18986.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011	a0001c0001t0004g0276 a0001c0001t0005g0183 a0001c0001t0009g0074 others(1): Show a0001c0001t0004g0276 a0001c0001t0005g0183 a0001c0001t0009g0074 a0001c0001t0011g0113	4	17	0.2353	20	c.155 others(37): Show c.1559-912_1559-893dupTATATATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 NA18747.hp2 NA18965.hp2 others(3): Show HG00280.hp1 NA18747.hp2 NA18965.hp2 NA18981.hp1 NA18988.hp1 NA18998.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0002 a0006c0010t0002 a0001c0002t0002 a0006c0010t0002	a0001c0002t0002g0009 a0001c0002t0002g0090 a0001c0002t0002g0118 others(3): Show a0001c0002t0002g0009 a0001c0002t0002g0090 a0001c0002t0002g0118 a0001c0002t0002g0164 a0001c0002t0002g0267 a0006c0010t0002g0331	6	81	0.0741	20	c.31 others(31): Show c.3167_*3186dupAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857105	G G	GGCCAGAT others(13): Show GGCCAGATATAATGGGCACTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0161	1	465	0.0022	20	c.281 others(37): Show c.281+1225_281+1244dupGAGTGCCCATTATATCTGGC	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	112	0.0089	20	c.281 others(37): Show c.281+1067_281+1086dupAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0192 a0001c0001t0027g0192	1	100	0.0100	20	c.-7- others(35): Show c.-7-2674_-7-2655dupAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0126 a0001c0004t0004g0126	1	47	0.0213	20	c.40+ others(35): Show c.40+1302_40+1303insGCGCGCACACACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(13): Show GCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0036 a0002c0007t0006g0036	1	47	0.0213	20	c.40+ others(35): Show c.40+1302_40+1303insGCGCGCGCACACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332762	C C	CACACACA others(13): Show CACACACACACACACACGCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	175	0.0057	20	c.138 others(39): Show c.138+47863_138+47864insACACACGCATACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 HG02145.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0018 a0001c0004t0012 a0001c0004t0018	a0001c0004t0012g0175 a0001c0004t0018g0122 a0001c0004t0012g0175 a0001c0004t0018g0122	2	25	0.0800	20	c.371 others(37): Show c.371+5734_371+5735insATATATATATATATATATGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(13): Show ATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03710.hp2 NA19007.hp2 HG02723.hp2 HG03710.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0005 a0001c0006 a0001c0008 a0002c0005	a0001c0006t0002 a0001c0008t0001 a0002c0005t0005 a0001c0006t0002 a0001c0008t0001 a0002c0005t0005	a0001c0006t0002g0086 a0001c0008t0001g0073 a0002c0005t0005g0158 a0001c0006t0002g0086 a0001c0008t0001g0073 a0002c0005t0005g0158	3	26	0.1154	20	c.371 others(37): Show c.371+5734_371+5735insATATATATATATATGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(13): Show ATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0054 a0002c0005t0003g0054	1	24	0.0417	20	c.371 others(37): Show c.371+5734_371+5735insATATGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCTTC others(13): Show TTCTCTTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02630.hp2 others(2): Show HG01884.hp1 HG02257.hp2 HG02630.hp2 HG03195.hp1 NA19007.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0001c0006 a0006c0016 a0001c0003 a0001c0006 a0006c0016	a0001c0003t0010 a0001c0006t0002 a0006c0016t0001 others(1): Show a0001c0003t0010 a0001c0006t0002 a0006c0016t0001 a0006c0016t0005	a0001c0003t0010g0135 a0001c0006t0002g0086 a0006c0016t0001g0045 others(2): Show a0001c0003t0010g0135 a0001c0006t0002g0086 a0006c0016t0001g0045 a0006c0016t0005g0165 a0006c0016t0005g0168	5	110	0.0455	20	c.614 others(35): Show c.614+205_614+206insTTCTCCTCTCCTCTCCTCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02818.hp1 others(1): Show HG00642.hp2 HG01081.hp1 HG02818.hp1 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0007 others(1): Show a0001c0002 a0001c0003 a0002c0007 a0002c0014	a0001c0002t0008 a0001c0003t0002 a0002c0007t0006 others(1): Show a0001c0002t0008 a0001c0003t0002 a0002c0007t0006 a0002c0014t0003	a0001c0002t0008g0056 a0001c0003t0002g0063 a0002c0007t0006g0037 others(1): Show a0001c0002t0008g0056 a0001c0003t0002g0063 a0002c0007t0006g0037 a0002c0014t0003g0103	4	127	0.0315	20	c.615 others(37): Show c.615-6623_615-6604dupCTTTCTTTCTTTCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0056 a0001c0002t0008g0056	1	99	0.0101	20	c.206 others(37): Show c.2067+873_2067+892dupAAAAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25624211	G G	GAGCTATG others(13): Show GAGCTATGCAGTGTTTGCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(47): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp1 HG00738.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG03834.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18956.hp2 NA18993.hp2 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19063.hp1 NA19240.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0015 a0001c0022 a0001c0037 a0003c0023 a0003c0024 a0003c0025 a0007c0026 a0010c0021 a0011c0027 a0012c0036	a0001c0001t0008 a0001c0001t0012 a0001c0002t0008 others(25): Show a0001c0001t0008 a0001c0001t0012 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0001c0004t0002 a0001c0004t0009 a0001c0004t0012 a0001c0004t0018 a0001c0006t0002 a0001c0006t0003 a0001c0009t0002 a0001c0009t0009 a0001c0009t0017 a0001c0015t0002 a0001c0015t0009 a0001c0022t0002 a0001c0037t0002 a0003c0023t0002 a0003c0024t0008 a0003c0025t0002 a0007c0026t0002 a0010c0021t0017 a0011c0027t0002 a0012c0036t0001	a0001c0001t0008g0014 a0001c0001t0008g0133 a0001c0001t0012g0179 others(47): Show a0001c0001t0008g0014 a0001c0001t0008g0133 a0001c0001t0012g0179 a0001c0002t0008g0056 a0001c0002t0008g0059 a0001c0002t0008g0107 a0001c0002t0011g0044 a0001c0002t0012g0174 a0001c0002t0012g0185 a0001c0003t0002g0002 a0001c0003t0002g0040 a0001c0003t0002g0052 a0001c0003t0002g0063 a0001c0003t0002g0067 a0001c0003t0002g0082 a0001c0003t0002g0092 a0001c0003t0002g0096 a0001c0003t0002g0099 a0001c0003t0002g0102 a0001c0003t0008g0022 a0001c0003t0009g0148 a0001c0003t0009g0149 a0001c0003t0009g0150 a0001c0004t0002g0009 a0001c0004t0002g0069 a0001c0004t0002g0101 a0001c0004t0009g0184 a0001c0004t0012g0175 a0001c0004t0018g0122 a0001c0006t0002g0012 a0001c0006t0002g0021 a0001c0006t0002g0027 a0001c0006t0002g0030 a0001c0006t0002g0086 a0001c0006t0002g0121 a0001c0006t0003g0094 a0001c0009t0002g0058 a0001c0009t0009g0129 a0001c0009t0017g0166 a0001c0015t0002g0061 a0001c0015t0009g0143 a0001c0022t0002g0015 a0001c0037t0002g0093 a0003c0023t0002g0077 a0003c0024t0008g0004 a0003c0025t0002g0111 a0007c0026t0002g0075 a0010c0021t0017g0167 a0011c0027t0002g0068 a0012c0036t0001g0001	50	184	0.2717	20	c.46 others(31): Show c.4628_*4629insAGCTATGCAGTGTTTGCATC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding		3682		chr6	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(13): Show CCACACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0009 a0001c0004t0035g0009	1	143	0.0070	20	c.27 others(29): Show c.272_*291dupACACACACACACACACACAC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	268	0.0037	20	c.802 others(37): Show c.802-2554_802-2553insGGGAGGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110679599	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 HG02622.hp1 HG02976.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0004 a0004c0012t0002 a0004c0012t0004	a0004c0012t0002g0260 a0004c0012t0004g0259 a0004c0012t0002g0260 a0004c0012t0004g0259	2	357	0.0056	20	c.656 others(37): Show c.656-2497_656-2496insTTCTTTCTTTCTTTCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40172967	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	257	0.0039	20	c.25 others(31): Show c.2562_*2563insTTTTTTTTTTTTTTTTTTTT	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		797		chr17	TogoVar
CASKIN1_chr16_2172180_2201605	2178786	A A	ACGCCCAT others(13): Show ACGCCCATCTCTGCCGAGCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG01109.hp2 others(6): Show HG00408.hp2 HG01074.hp1 HG01109.hp2 HG02027.hp2 HG02647.hp2 HG02922.hp2 HG03209.hp2 NA19005.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0012 a0001c0001 a0001c0004 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0004t0023 a0005c0012t0001	a0001c0001t0001g0075 a0001c0001t0001g0129 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0129 a0001c0001t0001g0159 a0001c0001t0002g0044 a0001c0001t0020g0198 a0001c0004t0023g0086 a0005c0012t0001g0017	9	291	0.0309	20	c.419 others(36): Show c.4199+96_4199+115dupGGGCTCGGCAGAGATGGGCG	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	19/19			chr16	TogoVar
CASK_chrX_41509934_41928554	41598134	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0160 a0001c0006t0018g0160	1	144	0.0069	20	c.115 others(39): Show c.1156-8562_1156-8543dupGTGTGTGTGTGTGTGTGTGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	12/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	28	0.0357	20	c.172 others(39): Show c.172+23399_172+23418dupATATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0034 a0001c0001t0006g0035	2	63	0.0317	20	c.60- others(37): Show c.60-16605_60-16586dupTTTTTTTTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP2_chr7_143283351_143312696	143284623	C C	CAAGGTAA others(13): Show CAAGGTAAATTACCCAAATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01261.hp1 HG02071.hp1 others(17): Show HG01169.hp2 HG01261.hp1 HG02071.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0074	20	244	0.0820	20	c.-38 others(31): Show c.-3833_-3832insAAGGTAAATTACCCAAATAG	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding		3727		chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18949.hp1 HG03669.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0226 a0001c0001t0002g0177 a0001c0001t0002g0226	2	40	0.0500	20	c.483 others(35): Show c.483+203_483+222dupTTTTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP5_chr11_104989243_105028168	105009728	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0133 a0004c0004t0001g0133	1	392	0.0026	20	c.8-7 others(31): Show c.8-749_8-748insGTGTATATATATATATATAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 NA18972.hp2 HG01928.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0166 a0001c0001t0003g0176 a0001c0001t0002g0166 a0001c0001t0003g0176	2	162	0.0123	20	c.-27 others(31): Show c.-2737_-2736insTATATATATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706168	T T	TATATATA others(13): Show TATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0137 a0002c0003t0003g0137	1	353	0.0028	20	c.-27 others(31): Show c.-2774_-2773insGTATATATATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2724		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG01496.hp1 others(8): Show HG00558.hp1 HG01123.hp2 HG01496.hp1 HG02165.hp1 HG03130.hp1 HG03471.hp2 HG03490.hp2 HG03710.hp2 NA18964.hp2 NA18991.hp2 NA18998.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0013 a0003c0003t0002	a0001c0001t0003g0193 a0001c0001t0004g0087 a0001c0001t0004g0088 others(8): Show a0001c0001t0003g0193 a0001c0001t0004g0087 a0001c0001t0004g0088 a0002c0002t0001g0267 a0002c0002t0001g0321 a0002c0002t0013g0266 a0003c0003t0002g0116 a0003c0003t0002g0118 a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0141	11	282	0.0390	20	c.-1+ others(35): Show c.-1+7839_-1+7858dupTTTCTTTCTTTCTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113732942	G G	GGCCAGGT others(13): Show GGCCAGGTAAGAGGCTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	404	0.0025	20	c.34 others(31): Show c.3402_*3403insGCCAGGTAAGAGGCTGTGTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		2038		chr10	TogoVar
CASP8_chr2_201255536_201292709	201283721	G G	GCTGGCTG others(13): Show GCTGGCTGGGCAGAGGGGCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp1 others(5): Show HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG02683.hp2 HG03654.hp1 HG03669.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0007 a0001c0001t0008g0039 others(3): Show a0001c0001t0008g0003 a0001c0001t0008g0007 a0001c0001t0008g0039 a0001c0001t0008g0041 a0001c0001t0008g0137 a0001c0001t0008g0142	8	384	0.0208	20	c.803 others(37): Show c.803-1090_803-1089insTGGGCAGAGGGGCTCCTGGC	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201283994	C C	CCAGACAG others(13): Show CCAGACAGGGTTGCGGCCCAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	384	0.0026	20	c.803 others(35): Show c.803-817_803-798dupCAGGGTTGCGGCCCAGCAGA	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ2_chr1_115695021_115773714	115723305	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01123.hp1 others(21): Show HG00423.hp2 HG00438.hp1 HG01123.hp1 HG01175.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG02040.hp2 HG02109.hp1 HG02135.hp2 HG03041.hp1 HG03130.hp1 HG03540.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18952.hp2 NA18988.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0002c0003t0001 a0002c0003t0006 a0002c0004t0002 a0002c0004t0016 a0003c0005t0001	a0001c0001t0002g0061 a0001c0001t0002g0090 a0001c0001t0005g0162 others(20): Show a0001c0001t0002g0061 a0001c0001t0002g0090 a0001c0001t0005g0162 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0006g0043 a0002c0003t0001g0265 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0291 a0002c0003t0001g0299 a0002c0003t0001g0301 a0002c0003t0001g0317 a0002c0003t0001g0321 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0006g0353 a0002c0004t0002g0259 a0002c0004t0016g0010 a0003c0005t0001g0006 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0252	24	122	0.1967	20	c.783 others(37): Show c.783+2183_783+2202dupGATAGATAGATAGATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115739124	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00639.hp2 others(39): Show HG00423.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01496.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18940.hp2 NA18949.hp2 NA18989.hp2 NA19000.hp1 NA19005.hp2 NA19078.hp2 NA19086.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0006t0003 a0001c0007t0009 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0004t0002 a0003c0005t0001	a0001c0001t0002g0174 a0001c0001t0005g0142 a0001c0001t0005g0144 others(39): Show a0001c0001t0002g0174 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0005g0151 a0001c0001t0005g0165 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0003g0039 a0001c0002t0003g0048 a0001c0002t0003g0158 a0001c0002t0003g0164 a0001c0002t0003g0172 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0194 a0001c0002t0003g0198 a0001c0002t0003g0204 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0225 a0001c0002t0003g0228 a0001c0002t0003g0231 a0001c0006t0003g0182 a0001c0007t0009g0179 a0001c0007t0009g0180 a0002c0003t0001g0263 a0002c0003t0001g0268 a0002c0003t0001g0284 a0002c0003t0003g0255 a0002c0003t0006g0353 a0002c0004t0002g0346 a0003c0005t0001g0237 a0003c0005t0001g0248 a0003c0005t0001g0250	42	191	0.2199	20	c.421 others(35): Show c.421-790_421-789insAAAAAAAAAAAAAAAAAAAA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	3/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122252362	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0083 a0001c0007t0001g0083	1	227	0.0044	20	c.-24 others(39): Show c.-242-1558_-242-1539dupGGAAGGAAGGAAGGAAGGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(13): Show GTAGGAAGGAAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	230	0.0043	20	c.-24 others(39): Show c.-242-1541_-242-1540insTAGGAAGGAAAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19086.hp1 HG00140.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0058 a0001c0001t0006g0042 a0001c0001t0001g0058 a0001c0001t0006g0042	2	40	0.0500	20	c.-24 others(39): Show c.-242-1519_-242-1500dupGAAAGAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(13): Show AGGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19004.hp2 NA19060.hp2 others(1): Show HG01346.hp2 NA19004.hp2 NA19060.hp2 NA19088.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0006 a0002c0002t0002 a0005c0006t0006 a0001c0001t0006 a0002c0002t0002 a0005c0006t0006	a0001c0001t0006g0051 a0002c0002t0002g0205 a0002c0002t0002g0224 others(1): Show a0001c0001t0006g0051 a0002c0002t0002g0205 a0002c0002t0002g0224 a0005c0006t0006g0043	4	42	0.0952	20	c.-24 others(39): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(13): Show AGGAAGGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp2 HG03225.hp1 others(1): Show HG00423.hp2 HG01891.hp2 HG03225.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0012 a0001c0001t0001 a0001c0001t0007 a0002c0002t0012	a0001c0001t0001g0280 a0001c0001t0007g0258 a0001c0001t0007g0259 others(1): Show a0001c0001t0001g0280 a0001c0001t0007g0258 a0001c0001t0007g0259 a0002c0002t0012g0214	4	42	0.0952	20	c.-24 others(39): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18943.hp1 NA18947.hp2 HG02129.hp2 NA18943.hp1 NA18947.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0002c0008 a0004c0003 a0001c0007 a0002c0008 a0004c0003	a0001c0007t0006 a0002c0008t0002 a0004c0003t0004 a0001c0007t0006 a0002c0008t0002 a0004c0003t0004	a0001c0007t0006g0046 a0002c0008t0002g0269 a0004c0003t0004g0199 a0001c0007t0006g0046 a0002c0008t0002g0269 a0004c0003t0004g0199	3	41	0.0732	20	c.-24 others(39): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAAAAG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	39	0.0256	20	c.-24 others(39): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 NA18995.hp2 others(1): Show HG02145.hp2 HG02976.hp1 NA18995.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0035 a0002c0004t0001g0092 a0002c0004t0001g0108 others(1): Show a0002c0003t0001g0035 a0002c0004t0001g0092 a0002c0004t0001g0108 a0002c0004t0001g0109	4	213	0.0188	20	c.460 others(37): Show c.460-2420_460-2419insAAAAAAAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960712	A A	ATATATAT others(13): Show ATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	183	0.0055	20	c.-42 others(31): Show c.-4274_-4273insTATATATATATATATATATT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		3992		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG01081.hp1 others(32): Show HG00438.hp2 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01261.hp1 HG01975.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18960.hp1 NA18974.hp1 NA19002.hp2 NA19012.hp1 NA19056.hp1 NA19065.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0001t0054 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0070 a0001c0001t0075 a0001c0001t0078 a0001c0001t0085 a0001c0001t0088 a0001c0001t0089	a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0067 others(32): Show a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0004g0016 a0001c0001t0004g0039 a0001c0001t0006g0222 a0001c0001t0010g0083 a0001c0001t0014g0185 a0001c0001t0017g0142 a0001c0001t0017g0172 a0001c0001t0019g0027 a0001c0001t0028g0219 a0001c0001t0054g0019 a0001c0001t0058g0034 a0001c0001t0059g0081 a0001c0001t0063g0007 a0001c0001t0064g0032 a0001c0001t0070g0073 a0001c0001t0075g0013 a0001c0001t0078g0080 a0001c0001t0085g0025 a0001c0001t0088g0009 a0001c0001t0089g0010	35	61	0.5738	20	c.-19 others(31): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0184 a0001c0002t0086g0184	1	142	0.0070	20	c.15 others(31): Show c.1507_*1508insTTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1508	INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75030983	G G	GAAGAAAA others(13): Show GAAGAAAAAAAATAAGAGAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0212 a0001c0001t0046g0212	1	226	0.0044	20	c.62 others(31): Show c.6284_*6285insAAGAAAAAAAATAAGAGAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	6285		chr7	TogoVar
CAST_chr5_96657376_96779683	96662653	G G	GGCAGGTG others(13): Show GGCAGGTGGCAGCAGGTGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00621.hp1 others(115): Show HG00323.hp1 HG00423.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01934.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0013 a0014	a0001c0001 a0001c0011 a0001c0017 others(12): Show a0001c0001 a0001c0011 a0001c0017 a0001c0018 a0001c0021 a0002c0003 a0002c0004 a0002c0006 a0003c0007 a0004c0008 a0006c0010 a0008c0014 a0010c0023 a0013c0019 a0014c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0011t0002 a0001c0017t0001 a0001c0018t0010 a0001c0021t0009 a0002c0003t0003 a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0002c0006t0001 a0003c0007t0002 a0004c0008t0007 a0004c0008t0011 a0006c0010t0014 a0006c0010t0024 a0008c0014t0002 a0010c0023t0003 a0013c0019t0001 a0014c0016t0011	a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0060 others(112): Show a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0002g0006 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0010g0025 a0001c0001t0010g0030 a0001c0001t0010g0040 a0001c0001t0016g0007 a0001c0011t0002g0099 a0001c0011t0002g0100 a0001c0011t0002g0101 a0001c0017t0001g0027 a0001c0018t0010g0031 a0001c0021t0009g0037 a0002c0003t0003g0097 a0002c0004t0001g0050 a0002c0004t0001g0098 a0002c0004t0001g0110 a0002c0004t0001g0112 a0002c0004t0001g0113 a0002c0004t0001g0114 a0002c0004t0001g0115 a0002c0004t0001g0118 a0002c0004t0001g0119 a0002c0004t0001g0122 a0002c0004t0001g0126 a0002c0004t0003g0124 a0002c0004t0005g0029 a0002c0004t0005g0032 a0002c0004t0005g0033 a0002c0004t0005g0034 a0002c0004t0005g0035 a0002c0004t0005g0102 a0002c0006t0001g0005 a0003c0007t0002g0047 a0003c0007t0002g0109 a0004c0008t0007g0058 a0004c0008t0011g0039 a0006c0010t0014g0043 a0006c0010t0014g0044 a0006c0010t0014g0131 a0006c0010t0024g0042 a0008c0014t0002g0107 a0008c0014t0002g0108 a0010c0023t0003g0041 a0013c0019t0001g0111 a0014c0016t0011g0028	118	221	0.5339	20	c.75+ others(33): Show c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr5	TogoVar

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