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
SBF1_chr22_50440000_50480035	50478517	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0035 a0001c0013t0035	a0001c0013t0035g0357 a0001c0013t0035g0357	1	402	0.0025	11	c.-36 others(22): Show c.-3688_-3678dupTTTTTTTTTTT	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding		3483		chr22	TogoVar
SBF2_chr11_9773668_10299219	9794676	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02074.hp1 HG02970.hp1 others(1): Show HG02055.hp1 HG02074.hp1 HG02970.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0001c0001t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0120 a0001c0005t0001g0209 a0001c0005t0001g0210 others(1): Show a0001c0001t0001g0120 a0001c0005t0001g0209 a0001c0005t0001g0210 a0002c0002t0001g0119	4	224	0.0179	11	c.457 others(30): Show c.4570+1144_4570+1154dupTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	33/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9835631	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG03942.hp1 HG02615.hp2 HG03453.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0010 a0001c0011t0001 a0001c0001t0001 a0001c0001t0010 a0001c0011t0001	a0001c0001t0001g0106 a0001c0001t0010g0148 a0001c0011t0001g0018 a0001c0001t0001g0106 a0001c0001t0010g0148 a0001c0011t0001g0018	3	224	0.0134	11	c.345 others(30): Show c.3456-3222_3456-3212dupTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9974960	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03704.hp2 HG01256.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0134 a0001c0001t0004g0216 a0001c0001t0002g0134 a0001c0001t0004g0216	2	224	0.0089	11	c.139 others(30): Show c.1396-6426_1396-6416dupTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10002311	T T	TGTTAAAA others(4): Show TGTTAAAATACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp2 others(24): Show HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG02074.hp2 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 NA18906.hp1 NA19002.hp2 NA19030.hp2 NA19063.hp2 NA19240.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0001c0018 a0005c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0012t0005 a0001c0018t0001 a0005c0010t0001	a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0003g0174 others(24): Show a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0005g0192 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0002g0019 a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0184 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0205 a0001c0003t0005g0162 a0001c0003t0005g0186 a0001c0012t0005g0194 a0001c0018t0001g0050 a0005c0010t0001g0169 a0005c0010t0001g0183	27	224	0.1205	11	c.752 others(26): Show c.752+245_752+246insTGTATTTTAAC	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	7/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10090764	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01258.hp1 others(7): Show HG00735.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG02738.hp2 HG03669.hp2 HG03942.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0008 a0009c0014 a0001c0001 a0006c0008 a0009c0014	a0001c0001t0002 a0001c0001t0004 a0006c0008t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0006c0008t0005 a0009c0014t0002	a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0059 others(7): Show a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0004g0053 a0001c0001t0004g0067 a0006c0008t0005g0062 a0006c0008t0005g0063 a0009c0014t0002g0071	10	224	0.0446	11	c.142 others(30): Show c.142-47794_142-47784dupTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10094528	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00735.hp1 others(25): Show HG00280.hp2 HG00733.hp1 HG00735.hp1 HG01106.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02602.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp2 NA18522.hp2 NA18944.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009	a0001c0001 a0001c0005 a0002c0002 others(5): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004 a0004c0006 a0006c0008 a0007c0009 a0009c0014	a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0005t0009 a0002c0002t0004 a0003c0004t0003 a0004c0006t0002 a0006c0008t0005 a0007c0009t0001 a0009c0014t0002	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0055 others(25): Show a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0109 a0001c0001t0002g0200 a0001c0001t0004g0053 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0009g0198 a0001c0005t0009g0203 a0002c0002t0004g0069 a0003c0004t0003g0182 a0004c0006t0002g0045 a0006c0008t0005g0062 a0007c0009t0001g0197 a0007c0009t0001g0199 a0009c0014t0002g0071	28	224	0.1250	11	c.142 others(30): Show c.142-51558_142-51548dupAAAAAAAAAAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0148 a0001c0001t0010g0148	1	224	0.0045	11	c.56- others(26): Show c.56-2880_56-2879insAAAAATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196876	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG02486.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0174 a0001c0001t0003g0175	2	224	0.0089	11	c.56- others(26): Show c.56-2890_56-2889insGAAAAAAAAAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10211014	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp2 HG03209.hp1 others(3): Show HG00741.hp2 HG02486.hp2 HG03209.hp1 HG03688.hp1 NA18522.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0003t0002 a0001c0003t0005	a0001c0001t0002g0161 a0001c0001t0003g0175 a0001c0001t0017g0181 others(3): Show a0001c0001t0002g0161 a0001c0001t0003g0175 a0001c0001t0017g0181 a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0005g0162	6	224	0.0268	11	c.56- others(28): Show c.56-17038_56-17028dupTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28304899	C C	CGCACGGC others(4): Show CGCACGGCAGCG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0035 a0003c0005t0035	a0003c0005t0035g0096 a0003c0005t0035g0096	1	384	0.0026	11	c.-8+ others(28): Show c.-8+11601_-8+11611dupCACGGCAGCGG	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK1_chr16_28287525_28328849	28322953	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0061 a0007c0007t0061	a0007c0007t0061g0063 a0007c0007t0061g0063	1	384	0.0026	11	c.20 others(22): Show c.2033_*2043dupCTCTCTCTCTC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	2044	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK2_chr19_55523611_55542133	55533659	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0299 a0002c0002t0001g0299	1	434	0.0023	11	c.254 others(28): Show c.254-2325_254-2315dupTTTTTTTTTTT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	2/3			chr19	TogoVar
SBNO1_chr12_123284109_123369847	123286575	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG02155.hp2 HG03516.hp1 others(8): Show HG01070.hp2 HG02155.hp2 HG03516.hp1 NA18747.hp2 NA18942.hp1 NA18963.hp1 NA18993.hp1 NA18999.hp2 NA19003.hp2 NA19012.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0022 a0001c0002t0034 others(1): Show a0001c0002t0003 a0001c0002t0022 a0001c0002t0034 a0001c0002t0089	a0001c0002t0003g0224 a0001c0002t0003g0227 a0001c0002t0003g0232 others(8): Show a0001c0002t0003g0224 a0001c0002t0003g0227 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0246 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0022g0230 a0001c0002t0034g0218 a0001c0002t0089g0247	11	260	0.0423	11	c.93 others(22): Show c.9332_*9333insTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding		2533		chr12	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18972.hp1 NA21309.hp1 HG02896.hp2 NA18972.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0008 a0001c0005 a0001c0006 a0001c0008	a0001c0005t0046 a0001c0006t0037 a0001c0008t0006 a0001c0005t0046 a0001c0006t0037 a0001c0008t0006	a0001c0005t0046g0102 a0001c0006t0037g0006 a0001c0008t0006g0113 a0001c0005t0046g0102 a0001c0006t0037g0006 a0001c0008t0006g0113	3	260	0.0115	11	c.403 others(28): Show c.4039+567_4039+577dupTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123299681	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02155.hp2 NA18747.hp2 others(3): Show HG02080.hp1 HG02155.hp2 NA18747.hp2 NA18957.hp1 NA19055.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0022 a0001c0002t0003 a0001c0002t0022	a0001c0002t0003g0224 a0001c0002t0003g0229 a0001c0002t0003g0249 others(3): Show a0001c0002t0003g0224 a0001c0002t0003g0229 a0001c0002t0003g0249 a0001c0002t0003g0257 a0001c0002t0022g0230 a0001c0002t0022g0256	6	260	0.0231	11	c.384 others(30): Show c.3846-1521_3846-1511dupTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	30/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123358742	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0014 a0001c0010 a0001c0014	a0001c0010t0061 a0001c0014t0070 a0001c0010t0061 a0001c0014t0070	a0001c0010t0061g0119 a0001c0014t0070g0193 a0001c0010t0061g0119 a0001c0014t0070g0193	2	260	0.0077	11	c.-1+ others(26): Show c.-1+5948_-1+5958dupTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	1/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1161310	G G	GTGCCTGA others(4): Show GTGCCTGAGTAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0029	1	203	0.0049	11	c.-12 others(30): Show c.-126-6919_-126-6909dupGTACTCAGGCA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1161906	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0181 a0001c0009t0001g0181	1	203	0.0049	11	c.-12 others(30): Show c.-126-7515_-126-7505dupCCCCCCCCCCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164972	C C	CAGGAGGA others(4): Show CAGGAGGAGGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	203	0.0049	11	c.-12 others(30): Show c.-127+9199_-127+9200insTTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1172775	A A	ACCCCCCC others(4): Show ACCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0029	1	203	0.0049	11	c.-12 others(30): Show c.-127+1396_-127+1397insGGGGGGGGGGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35522479	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(42): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01074.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG02083.hp2 HG02109.hp2 HG02273.hp1 HG02486.hp1 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp1 HG03710.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp2 NA18951.hp2 NA18957.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18982.hp1 NA18999.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp1 NA19077.hp1 NA19087.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0004c0013 a0005c0006 a0009c0015	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0004c0013t0001 a0005c0006t0002 a0009c0015t0001	a0001c0002t0001g0005 a0001c0003t0001g0006 a0002c0001t0001g0001 others(6): Show a0001c0002t0001g0005 a0001c0003t0001g0006 a0002c0001t0001g0001 a0002c0001t0001g0011 a0002c0001t0001g0018 a0002c0001t0001g0080 a0004c0013t0001g0022 a0005c0006t0002g0014 a0009c0015t0001g0036	45	450	0.1000	11	c.10 others(22): Show c.1030_*1031insTTTTTTTTTTT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		887		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02976.hp2 others(3): Show HG02055.hp1 HG02723.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 NA18612.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0005 a0002c0002 a0003c0003 a0003c0005	a0002c0002t0003 a0002c0002t0031 a0003c0003t0006 others(2): Show a0002c0002t0003 a0002c0002t0031 a0003c0003t0006 a0003c0003t0023 a0003c0005t0003	a0002c0002t0003g0226 a0002c0002t0031g0189 a0003c0003t0006g0068 others(3): Show a0002c0002t0003g0226 a0002c0002t0031g0189 a0003c0003t0006g0068 a0003c0003t0006g0092 a0003c0003t0023g0072 a0003c0005t0003g0293	6	414	0.0145	11	c.678 others(26): Show c.678-150_678-149insATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SC5D_chr11_121287771_121318410	121306091	A A	AACTCAAC others(4): Show AACTCAACTGCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	424	0.0024	11	c.344 others(26): Show c.344-295_344-294insACTCAACTGCC	SC5D	ENSG00000109929.10	transcript	ENST00000264027.9	protein_coding	3/4			chr11	TogoVar
SC5D_chr11_121287771_121318410	121314315	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG04115.hp1 HG02886.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0003 a0001c0001t0008g0021 a0001c0001t0003g0003 a0001c0001t0008g0021	2	424	0.0047	11	c.68 others(22): Show c.6803_*6804insTTTTTTTTTTT	SC5D	ENSG00000109929.10	transcript	ENST00000264027.9	protein_coding		906		chr11	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(4): Show CACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	382	0.0026	11	c.16 others(22): Show c.1629_*1630insACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAF4_chr21_31666000_31737118	31677972	T T	TACCTTAG others(4): Show TACCTTAGTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0325 a0001c0012t0001g0325	1	352	0.0028	11	c.248 others(30): Show c.2489-5629_2489-5619dupGAGACTAAGGT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	19/19			chr21	TogoVar
SCAF4_chr21_31666000_31737118	31688114	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01928.hp2 HG02004.hp1 others(24): Show HG00558.hp2 HG01928.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02257.hp1 HG02723.hp1 HG02886.hp1 HG03017.hp1 HG03195.hp1 HG03492.hp2 HG03831.hp2 NA18971.hp2 NA18973.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp2 NA19086.hp1 NA19090.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0015 a0005c0016 others(1): Show a0001c0001 a0003c0015 a0005c0016 a0007c0013	a0001c0001t0001 a0003c0015t0001 a0005c0016t0001 others(1): Show a0001c0001t0001 a0003c0015t0001 a0005c0016t0001 a0007c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0027 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0111 a0003c0015t0001g0113 a0005c0016t0001g0022 a0007c0013t0001g0044	27	352	0.0767	11	c.204 others(28): Show c.2043+182_2043+192dupTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	16/19			chr21	TogoVar
SCAF8_chr6_154728416_154839221	154790489	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	282	0.0036	11	c.322 others(28): Show c.322-2305_322-2295dupTTTTTTTTTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154796353	T T	TTCCTCTC others(4): Show TTCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	282	0.0036	11	c.606 others(28): Show c.606+1216_606+1217insCTCTCTCTCTC	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125032195	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0140 a0001c0001t0065g0140	1	306	0.0033	11	c.231 others(28): Show c.231-2457_231-2456insAAAAATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125073092	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0260	1	306	0.0033	11	c.99- others(28): Show c.99-17096_99-17086dupAAAAAAAAAAA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125092131	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0036 a0001c0003t0046g0036	1	306	0.0033	11	c.99- others(28): Show c.99-36135_99-36125dupTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106096	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0260	1	306	0.0033	11	c.98+ others(28): Show c.98+36526_98+36536dupTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106116	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0071 a0001c0003t0071	a0001c0003t0071g0027 a0001c0003t0071g0027	1	306	0.0033	11	c.98+ others(28): Show c.98+36516_98+36517insATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106120	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0223 a0001c0001t0006g0223	1	306	0.0033	11	c.98+ others(28): Show c.98+36512_98+36513insATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0276 a0002c0002t0008g0276	1	306	0.0033	11	c.98+ others(28): Show c.98+36510_98+36511insATATTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02897.hp2 HG03139.hp1 HG02523.hp1 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0032 a0001c0001t0002 a0001c0001t0010 a0001c0001t0032	a0001c0001t0002g0062 a0001c0001t0010g0215 a0001c0001t0032g0025 a0001c0001t0002g0062 a0001c0001t0010g0215 a0001c0001t0032g0025	3	306	0.0098	11	c.98+ others(28): Show c.98+36510_98+36511insATATATATTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	306	0.0033	11	c.98+ others(28): Show c.98+36510_98+36511insATATATATATT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78404453	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02622.hp2 NA18522.hp1 others(1): Show HG01167.hp1 HG02622.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0026 a0001c0001t0006 a0001c0001t0026	a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0136 others(1): Show a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0136 a0001c0001t0026g0172	4	332	0.0121	11	c.136 others(30): Show c.136-11057_136-11047dupTTTTTTTTTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATAAAT others(4): Show TTATAAATACTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0329 a0001c0001t0036g0329	1	332	0.0030	11	c.632 others(28): Show c.632+8246_632+8247insAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATAAAT others(4): Show TTATAAATACTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0193 a0001c0001t0024g0193	1	332	0.0030	11	c.632 others(28): Show c.632+8265_632+8266insAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460792	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02083.hp2 NA18975.hp1 others(3): Show HG00408.hp2 HG02083.hp2 NA18975.hp1 NA19010.hp2 NA19057.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0290 a0001c0001t0003g0291 others(3): Show a0001c0001t0003g0276 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0298 a0001c0001t0003g0304 a0001c0001t0003g0305	6	332	0.0181	11	c.852 others(28): Show c.852+1430_852+1431insTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460796	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG04204.hp1 NA18906.hp2 others(9): Show HG00280.hp1 HG04204.hp1 NA18906.hp2 NA18953.hp1 NA18959.hp2 NA18965.hp2 NA18966.hp2 NA18977.hp1 NA18987.hp1 NA18999.hp2 NA19005.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0024 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0024 a0001c0001t0039 a0001c0001t0042	a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0277 others(9): Show a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0277 a0001c0001t0003g0296 a0001c0001t0003g0299 a0001c0001t0003g0314 a0001c0001t0003g0316 a0001c0001t0003g0325 a0001c0001t0014g0302 a0001c0001t0024g0193 a0001c0001t0039g0317 a0001c0001t0042g0300	12	332	0.0361	11	c.852 others(28): Show c.852+1434_852+1435insTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460800	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19009.hp2 HG01884.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0269 a0001c0001t0008g0177 a0001c0001t0003g0269 a0001c0001t0008g0177	2	332	0.0060	11	c.852 others(28): Show c.852+1438_852+1439insTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74869064	G G	GAATCGCT others(4): Show GAATCGCTTGAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	386	0.0026	11	c.57+ others(26): Show c.57+4124_57+4134dupTTCAAGCGATT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74873426	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18983.hp1 NA19009.hp2 others(1): Show NA18954.hp1 NA18983.hp1 NA19009.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0031	a0001c0001t0001g0101 a0001c0001t0006g0298 a0001c0001t0012g0276 others(1): Show a0001c0001t0001g0101 a0001c0001t0006g0298 a0001c0001t0012g0276 a0001c0001t0031g0354	4	386	0.0104	11	c.-17 others(20): Show c.-172_-171insGGGGGGGGGGG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		62		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874653	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	386	0.0026	11	c.-13 others(22): Show c.-1399_-1398insATATATATATA	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1289		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0010 a0001c0001t0024g0010	1	386	0.0026	11	c.-14 others(22): Show c.-1407_-1406insATATTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAATAT others(4): Show AAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG03490.hp1 NA18939.hp1 HG01361.hp1 HG03490.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0034 a0001c0001t0003 a0001c0001t0006 a0001c0001t0034	a0001c0001t0003g0001 a0001c0001t0006g0291 a0001c0001t0034g0107 a0001c0001t0003g0001 a0001c0001t0006g0291 a0001c0001t0034g0107	3	386	0.0078	11	c.-14 others(22): Show c.-1407_-1406insATATATATTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar

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