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
SAMM50_chr22_43950442_44001529	43993373	CGGCTTTT others(27): Show CGGCTTTTAGGAGCTCTGTTGAATTGACCCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0046 a0001c0006t0001g0046	1	376	0.0027	-34	c.136 others(53): Show c.1365-2963_1365-2930delGCTTTTAGGAGCTCTGTTGAATTGAC CCTTTCTG	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SASH1_chr6_148337838_148557044	148387630	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0003 a0002c0017t0003	a0002c0017t0003g0239 a0002c0017t0003g0239	1	320	0.0031	-34	c.157 others(51): Show c.157-2502_157-2469delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148486936	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp2 others(37): Show HG00280.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03927.hp1 HG03942.hp1 NA18959.hp2 NA18977.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19063.hp2 NA19064.hp1 NA19085.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0006 others(2): Show a0001c0001 a0002c0002 a0003c0006 a0003c0008 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0030 a0001c0001t0034 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0015 a0003c0006t0001 a0003c0006t0009 a0003c0008t0003 a0008c0021t0005	a0001c0001t0001g0115 a0001c0001t0001g0151 a0001c0001t0001g0309 others(37): Show a0001c0001t0001g0115 a0001c0001t0001g0151 a0001c0001t0001g0309 a0001c0001t0002g0154 a0001c0001t0005g0224 a0001c0001t0005g0256 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0011 a0001c0001t0009g0166 a0001c0001t0011g0321 a0001c0001t0013g0185 a0001c0001t0016g0156 a0001c0001t0017g0234 a0001c0001t0017g0250 a0001c0001t0020g0170 a0001c0001t0025g0005 a0001c0001t0030g0043 a0001c0001t0034g0228 a0002c0002t0001g0111 a0002c0002t0001g0216 a0002c0002t0001g0254 a0002c0002t0001g0303 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0237 a0002c0002t0003g0110 a0002c0002t0003g0180 a0002c0002t0004g0049 a0002c0002t0004g0193 a0002c0002t0004g0203 a0002c0002t0009g0236 a0002c0002t0015g0291 a0003c0006t0001g0056 a0003c0006t0001g0057 a0003c0006t0001g0084 a0003c0006t0001g0085 a0003c0006t0009g0069 a0003c0008t0003g0070 a0008c0021t0005g0093	40	61	0.6557	-34	c.628 others(49): Show c.628-653_628-620delATATATATATATATATATATATATATATAT ATAT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBNO2_chr19_1102638_1179268	1148470	CCCACCCT others(27): Show CCCACCCTCCTTCACCCACCCCAGAAAACCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0049 a0001c0006t0006g0049	1	202	0.0050	-34	c.167 others(49): Show c.167+865_167+898delCGGGAGGTTTTCTGGGGTGGGTGAAGGAGG GTGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCAF8_chr6_154728416_154839221	154794778	GGGGTGTG others(27): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(84): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03490.hp1 HG03516.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp2 NA18960.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19002.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0015 a0004c0007 others(1): Show a0001c0001 a0001c0015 a0004c0007 a0007c0010	a0001c0001t0001 a0001c0001t0008 a0001c0015t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0015t0001 a0004c0007t0001 a0007c0010t0001	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 others(84): Show a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0265 a0001c0001t0008g0149 a0001c0015t0001g0109 a0004c0007t0001g0134 a0004c0007t0001g0172 a0007c0010t0001g0094	87	235	0.3702	-34	c.476 others(49): Show c.476-229_476-196delGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAMP1_chr5_78355617_78485739	78460793	CTTCCTTC others(27): Show CTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0072 a0001c0001t0002g0075	2	332	0.0060	-34	c.852 others(51): Show c.852+1432_852+1465delTTCCTTCCTTCCTCCCTTCCTTCCTTCC TTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74874647	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 NA18978.hp2 HG01099.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0188 a0001c0003t0005g0158 a0001c0001t0001g0188 a0001c0003t0005g0158	2	384	0.0052	-34	c.-14 others(45): Show c.-1426_-1393delATATATATATATATATATATTTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1283		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874649	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	377	0.0027	-34	c.-14 others(45): Show c.-1428_-1395delATATATATATATATATATATATTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1285		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74995517	GGCGCGCG others(27): Show GGCGCGCGCAGAGACGGCCTCGGGCGCGCGCGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp2 others(85): Show HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02965.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19076.hp2 NA19082.hp2 NA19086.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0014 a0001c0003t0004 a0001c0004t0004	a0001c0001t0001g0061 a0001c0002t0002g0007 a0001c0002t0002g0008 others(66): Show a0001c0001t0001g0061 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0006g0049 a0001c0002t0006g0053 a0001c0002t0009g0076 a0001c0002t0014g0073 a0001c0003t0004g0068 a0001c0003t0004g0100 a0001c0004t0004g0050 a0001c0004t0004g0051 a0001c0004t0004g0052	88	367	0.2398	-34	c.-20 others(43): Show c.-204_-171delGCGCGCGCAGAGACGGCCTCGGGCGCGCGCGCGC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		45		chr15	TogoVar
SCAND1_chr20_35948624_35959502	35957843	TATCCCTA others(27): Show TATCCCTAGATTGGGAGTTCACTTGGGAAGGGATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	-34	c.-34 others(45): Show c.-3485_-3452delGATCCCTTCCCAAGTGAACTCCCAATCTAGGGAT	SCAND1	ENSG00000171222.11	transcript	ENST00000305978.7	protein_coding		3342		chr20	TogoVar
SCART1_chr10_133448945_133474760	133472330	GGTTGTTG others(27): Show GGTTGTTGAGTGCGGCGTCTCCCTCCTGAGATCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02129.hp2 HG03239.hp1 others(11): Show HG01175.hp1 HG02129.hp2 HG03239.hp1 HG03490.hp1 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA19006.hp2 NA19065.hp1 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0007 a0003c0024 others(3): Show a0001c0001 a0003c0007 a0003c0024 a0004c0015 a0004c0021 a0007c0034	a0001c0001t0003 a0003c0007t0003 a0003c0024t0003 others(3): Show a0001c0001t0003 a0003c0007t0003 a0003c0024t0003 a0004c0015t0001 a0004c0021t0003 a0007c0034t0003	a0001c0001t0003g0001 a0003c0007t0003g0112 a0003c0024t0003g0103 others(8): Show a0001c0001t0003g0001 a0003c0007t0003g0112 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0004c0015t0001g0034 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0007c0034t0003g0097	14	432	0.0324	-34	c.43 others(45): Show c.4363_*4396delGTTGTTGAGTGCGGCGTCTCCCTCCTGAGATCTA	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2571		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472342	CGGCGTCT others(27): Show CGGCGTCTCCCTCCTGAGATCTAGTCGTTGAGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02615.hp2 others(15): Show HG02055.hp1 HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1 NA18951.hp1 NA18973.hp1 NA18975.hp1 NA18984.hp2 NA18995.hp1 NA18998.hp2 NA19043.hp1 NA19077.hp1	a0003 a0004 a0009 a0003 a0004 a0009	a0003c0007 a0003c0009 a0004c0005 others(2): Show a0003c0007 a0003c0009 a0004c0005 a0004c0058 a0009c0025	a0003c0007t0003 a0003c0009t0003 a0004c0005t0003 others(2): Show a0003c0007t0003 a0003c0009t0003 a0004c0005t0003 a0004c0058t0019 a0009c0025t0003	a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 others(11): Show a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0009t0003g0121 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0058t0019g0060 a0009c0025t0003g0031 a0009c0025t0003g0123	18	424	0.0425	-34	c.43 others(45): Show c.4375_*4408delGGCGTCTCCCTCCTGAGATCTAGTCGTTGAGTGT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		2583		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472869	AAGTGTGG others(27): Show AAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG01928.hp1 others(3): Show HG01192.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	6	424	0.0142	-34	c.49 others(45): Show c.4902_*4935delAGTGTGGCGTCTCCCTCCTGAGATCTGGTCGTTG	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		3110		chr10	TogoVar
SCART1_chr10_133448945_133474760	133472945	CGTCTCCC others(27): Show CGTCTCCCTCCTGAGATCTGGTCATTGAGTATGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	432	0.0023	-34	c.49 others(45): Show c.4978_*5011delGTCTCCCTCCTGAGATCTGGTCATTGAGTATGGT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		3186		chr10	TogoVar
SCCPDH_chr1_246719409_246773137	246725231	GTATTTAT others(27): Show GTATTTATTGATAATCTAAGCATTCAGGTAGCATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00673.hp2 others(78): Show HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01109.hp1 HG01243.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01981.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18950.hp1 NA18959.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19003.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0002t0004 a0001c0007t0008 a0004c0006t0001	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0260 others(55): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0260 a0001c0001t0001g0275 a0001c0001t0002g0053 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0005g0015 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0007g0055 a0001c0001t0007g0199 a0001c0001t0007g0262 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0015g0263 a0001c0002t0004g0006 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0045 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0004g0181 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0194 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0007t0008g0254 a0004c0006t0001g0255	81	408	0.1985	-34	c.190 others(49): Show c.190+665_190+698delAATCTAAGCATTCAGGTAGCATATATTTAT TGAT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCD5_chr4_82624539_82803796	82712243	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03710.hp2 NA18949.hp1 others(2): Show HG00673.hp1 HG03710.hp2 NA18949.hp1 NA18993.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0001g0162 a0001c0001t0002g0053	5	92	0.0543	-34	c.233 others(51): Show c.233-6864_233-6831delATATATATATATATATATATATATATAT ATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82779166	CCAACTAG others(27): Show CCAACTAGCTAATCTTAAACTAGCAAAAGTATCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	208	0.0048	-34	c.232 others(53): Show c.232+19106_232+19139delAGGATACTTTTGCTAGTTTAAGATTA GCTAGTTG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCFD1_chr14_30617319_30740850	30703910	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG02040.hp2 HG00558.hp2 HG02027.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229	3	233	0.0129	-34	c.149 others(53): Show c.1490+1555_1490+1588delTATATATATATATATATATATATATA TATATATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703930	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02257.hp2 others(11): Show HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03516.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0149 a0001c0001t0001g0150	14	326	0.0429	-34	c.149 others(53): Show c.1490+1559_1490+1592delTATATATATATATATATATATATATA TATAAATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52875802	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	20	0.0500	-34	c.196 others(53): Show c.1963-1775_1963-1742delTATATATATATATATATATATATATA TATATATA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	8/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51709687	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18747.hp1 NA18971.hp2 others(3): Show HG04115.hp2 NA18747.hp1 NA18971.hp2 NA18977.hp2 NA18992.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0198 a0001c0001t0004g0201 a0001c0001t0004g0202 others(3): Show a0001c0001t0004g0198 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0012g0197	6	398	0.0151	-34	c.120 others(53): Show c.1208-3644_1208-3611delATATATATATATATTTTTTTTTTTTT TTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709689	ATATATAT others(27): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19006.hp1 HG00597.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0206 a0001c0001t0001g0204 a0001c0001t0002g0206	2	396	0.0051	-34	c.120 others(53): Show c.1208-3642_1208-3609delATATATATATATTTTTTTTTTTTTTT TTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCHIP1_chr3_159268244_159902359	159626196	ATAGATAG others(27): Show ATAGATAGATAGATATATCTAGATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG03540.hp2 HG02451.hp1 HG02717.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0075	3	100	0.0300	-34	c.64- others(53): Show c.64-138240_64-138207delGATAGATATATCTAGATATATATATA TCTAGATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159626203	GATAGATA others(27): Show GATAGATATATCTAGATATATATATATCTAGATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	98	0.0102	-34	c.64- others(53): Show c.64-138237_64-138204delAGATATATCTAGATATATATATATCT AGATATAT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCLT1_chr4_128878993_129098539	128945220	AAGAGACA others(27): Show AAGAGACATATGGATATACACATTGGAGAGAAACC	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	286	0.0035	-34	c.143 others(51): Show c.1439+753_1439+786delGGTTTCTCTCCAATGTGTATATCCATAT GTCTCT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	16/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107778206	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG03486.hp2 others(3): Show HG01346.hp1 HG01358.hp1 HG03486.hp2 NA18964.hp1 NA18965.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0005 a0001c0001t0002 a0001c0001t0008 a0001c0002t0005	a0001c0001t0002g0179 a0001c0001t0002g0195 a0001c0001t0008g0177 others(3): Show a0001c0001t0002g0179 a0001c0001t0002g0195 a0001c0001t0008g0177 a0001c0001t0008g0184 a0001c0002t0005g0166 a0001c0002t0005g0212	6	243	0.0247	-34	c.-59 others(51): Show c.-59-5854_-59-5821delATATATATATATATATATTTTTTTTTTT TTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778208	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(48): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02132.hp2 HG02165.hp2 HG02698.hp2 HG02738.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18967.hp2 NA18973.hp1 NA18977.hp2 NA18985.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19079.hp2 NA19084.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0002c0004 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005 a0001c0003t0016 a0001c0005t0017 a0001c0005t0018 a0001c0012t0002 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0002c0004t0021 a0002c0006t0005	a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0093 others(48): Show a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0093 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0199 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0240 a0001c0001t0003g0190 a0001c0001t0005g0194 a0001c0001t0006g0173 a0001c0001t0006g0189 a0001c0001t0006g0209 a0001c0001t0006g0211 a0001c0001t0006g0245 a0001c0001t0008g0191 a0001c0001t0008g0207 a0001c0001t0008g0210 a0001c0001t0008g0222 a0001c0001t0008g0225 a0001c0001t0008g0230 a0001c0001t0008g0237 a0001c0001t0008g0243 a0001c0002t0002g0246 a0001c0002t0005g0175 a0001c0002t0005g0181 a0001c0002t0005g0183 a0001c0002t0005g0198 a0001c0002t0005g0204 a0001c0002t0005g0205 a0001c0002t0005g0229 a0001c0002t0005g0236 a0001c0002t0005g0247 a0001c0003t0016g0008 a0001c0003t0016g0219 a0001c0005t0017g0223 a0001c0005t0018g0213 a0001c0012t0002g0227 a0001c0012t0002g0228 a0002c0004t0002g0235 a0002c0004t0005g0239 a0002c0004t0006g0224 a0002c0004t0021g0242 a0002c0006t0005g0180	51	242	0.2107	-34	c.-59 others(51): Show c.-59-5856_-59-5823delATATATATATATATATATATTTTTTTTT TTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778210	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01257.hp1 others(22): Show HG00438.hp2 HG00621.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp1 HG02129.hp1 HG02155.hp2 HG02602.hp2 HG02647.hp2 HG02738.hp2 HG02896.hp1 HG03139.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18971.hp1 NA18984.hp2 NA18987.hp2 NA18992.hp2 NA18994.hp2 NA19060.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0004 a0002c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0005 a0001c0002t0008 a0001c0005t0005 a0001c0005t0017 a0001c0005t0018 a0001c0008t0008 a0002c0004t0006 a0002c0006t0005	a0001c0001t0002g0178 a0001c0001t0002g0202 a0001c0001t0002g0220 others(21): Show a0001c0001t0002g0178 a0001c0001t0002g0202 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0006g0001 a0001c0001t0006g0046 a0001c0001t0006g0113 a0001c0001t0006g0146 a0001c0001t0006g0187 a0001c0001t0006g0192 a0001c0001t0006g0203 a0001c0001t0006g0218 a0001c0001t0006g0232 a0001c0001t0008g0170 a0001c0002t0005g0193 a0001c0002t0005g0201 a0001c0002t0005g0244 a0001c0002t0008g0147 a0001c0005t0005g0182 a0001c0005t0017g0196 a0001c0005t0018g0206 a0001c0008t0008g0114 a0002c0004t0006g0185 a0002c0006t0005g0248	25	229	0.1092	-34	c.-59 others(51): Show c.-59-5858_-59-5825delATATATATATATATATATATATTTTTTT TTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813369	ATTATATA others(27): Show ATTATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG03209.hp1 others(3): Show HG01891.hp1 HG02109.hp2 HG03209.hp1 HG03453.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0012 a0001c0002t0010 a0001c0003t0012	a0001c0002t0010g0135 a0001c0003t0012g0131 a0001c0003t0012g0132 others(3): Show a0001c0002t0010g0135 a0001c0003t0012g0131 a0001c0003t0012g0132 a0001c0003t0012g0133 a0001c0003t0012g0134 a0001c0003t0012g0136	6	241	0.0249	-34	c.-60 others(53): Show c.-60+10723_-60+10756delATATATATATATATATATATATATAT ATATATAA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813391	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03516.hp2 HG04184.hp1 HG02630.hp2 HG03516.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0001 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0077 a0001c0001t0004g0078 a0001c0001t0022g0014 a0001c0001t0001g0077 a0001c0001t0004g0078 a0001c0001t0022g0014	3	243	0.0123	-34	c.-60 others(53): Show c.-60+10701_-60+10734delTTATATATATATATATATATATATAT ATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	CCCCGAGT others(27): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0106 a0003c0004t0003g0106	1	247	0.0040	-34	c.166 others(51): Show c.1662+243_1662+276delAGTCTCTGCTCCGTCCCGTGTCTGCTCC GTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289113	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0147 a0003c0004t0003g0147	1	285	0.0035	-34	c.166 others(53): Show c.1662+1078_1662+1111delGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289518	TGCTCCGT others(27): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01975.hp1 HG01069.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0002g0236 a0001c0001t0001g0203 a0001c0001t0002g0236	2	284	0.0070	-34	c.166 others(51): Show c.1663-752_1663-719delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289527	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	287	0.0035	-34	c.166 others(51): Show c.1663-742_1663-709delGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289599	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	288	0.0035	-34	c.166 others(51): Show c.1663-670_1663-637delGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289975	TGCTCCGT others(27): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02896.hp2 HG00597.hp2 HG02896.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0006c0010 a0003c0004 a0006c0010	a0003c0004t0003 a0006c0010t0007 a0003c0004t0003 a0006c0010t0007	a0003c0004t0003g0146 a0006c0010t0007g0271 a0003c0004t0003g0146 a0006c0010t0007g0271	2	279	0.0072	-34	c.166 others(51): Show c.1663-295_1663-262delGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290074	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18969.hp2 HG00544.hp1 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0058 a0002c0002t0001g0053 a0002c0002t0001g0058	2	288	0.0069	-34	c.166 others(51): Show c.1663-195_1663-162delGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCT_chr11_621309_632181	628921	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02055.hp2 HG02129.hp2 others(4): Show HG00738.hp2 HG02055.hp2 HG02129.hp2 HG04115.hp2 HG04199.hp2 NA18944.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0001c0001t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0015 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0015 a0002c0004t0001g0006	7	338	0.0207	-34	c.-18 others(45): Show c.-1812_-1779delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1741		chr11	TogoVar
SCT_chr11_621309_632181	628949	CTTTCTTT others(27): Show CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18946.hp1 NA19002.hp1 NA18943.hp1 NA18946.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	404	0.0074	-34	c.-18 others(45): Show c.-1840_-1807delAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1769		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43205783	ACACTCAC others(27): Show ACACTCACCCCCACACACACCACACACCCACTCAC	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0225 a0003c0001t0001g0225	1	277	0.0036	-34	c.281 others(53): Show c.2815-1668_2815-1635delGTGAGTGGGTGTGTGGTGTGTGTGGG GGTGAGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	21/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3321761	CCCTTCCT others(27): Show CCCTTCCTTCCTTCCTTCTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0048 a0001c0092t0048	a0001c0092t0048g0057 a0001c0092t0048g0057	1	113	0.0088	-34	c.298 others(53): Show c.298+19895_298+19928delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3403824	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0070 a0004c0003t0003g0070	1	39	0.0256	-34	c.298 others(55): Show c.298+101952_298+101985delTATATATATATATATATATATATA TATATATATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0028 a0028	a0028c0018 a0028c0018	a0028c0018t0071 a0028c0018t0071	a0028c0018t0071g0005 a0028c0018t0071g0005	1	5	0.2000	-34	c.242 others(51): Show c.2420+324_2420+357delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4194222	ACACGTAT others(27): Show ACACGTATGTGTATACATGTATAGATATATGTATG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0051 a0033c0051	a0033c0051t0062 a0033c0051t0062	a0033c0051t0062g0019 a0033c0051t0062g0019	1	109	0.0092	-34	c.509 others(55): Show c.5099-11600_5099-11567delGATATATGTATGCACGTATGTGTA TACATGTATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4194279	GATATATG others(27): Show GATATATGTATGCACGTATGTGTATACATGTATAC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0031 a0001c0061t0031	a0001c0061t0031g0100 a0001c0061t0031g0100	1	116	0.0086	-34	c.509 others(55): Show c.5099-11566_5099-11533delCATATATGTATGCACGTATGTGTA TACATGTATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4194313	CATATATG others(27): Show CATATATGTATGCACGTATGTGTATACATGTATAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03516.hp2 HG00738.hp2 HG03516.hp2	a0001 a0028 a0001 a0028	a0001c0007 a0028c0018 a0001c0007 a0028c0018	a0001c0007t0021 a0028c0018t0071 a0001c0007t0021 a0028c0018t0071	a0001c0007t0021g0110 a0028c0018t0071g0005 a0001c0007t0021g0110 a0028c0018t0071g0005	2	75	0.0267	-34	c.509 others(55): Show c.5099-11533_5099-11500delAGATATATGTATGCACGTATGTGT ATACATGTAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC14L3_chr22_30454229_30477017	30454880	ATTATATA others(27): Show ATTATATATTATATAATAGATATATAATATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(190): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0007 a0003c0003 others(2): Show a0001c0001 a0001c0007 a0003c0003 a0004c0004 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0007t0001 a0003c0003t0001 a0004c0004t0001 a0004c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0003g0009 a0001c0001t0003g0067 a0001c0001t0003g0119 a0001c0001t0008g0046 a0001c0001t0012g0118 a0001c0007t0001g0042 a0003c0003t0001g0088 a0004c0004t0001g0005 a0004c0004t0001g0007 a0004c0004t0001g0012 a0004c0004t0001g0032 a0004c0004t0001g0035 a0004c0004t0001g0065 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0158 a0004c0014t0001g0144	193	427	0.4520	-34	c.51 others(45): Show c.5107_*5140delATAATATATTATATATCTATTATATAATATATAA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4348		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30454943	ATTATTAT others(27): Show ATTATTATATATCATATAATAGATATATAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	451	0.0022	-34	c.50 others(45): Show c.5044_*5077delATATATTATATATCTATTATATGATATATAATAA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4285		chr22	TogoVar
SEC23A_chr14_39026919_39108235	39094416	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	364	0.0027	-34	c.222 others(51): Show c.222-1206_222-1173delAAAAAAAATATATATATATATATATATA TATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SELL_chr1_169685667_169716620	169716199	CTAACACA others(27): Show CTAACACAAACAGCCTATTCTCCATCCTCATCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	430	0.0023	-34	c.-47 others(45): Show c.-4735_-4702delTAAGATGAGGATGGAGAATAGGCTGTTTGTGTTA	SELL	ENSG00000188404.10	transcript	ENST00000236147.6	protein_coding		4580		chr1	TogoVar

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