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
PTPN12_chr7_77532295_77645069	77533995	T T	TCCCGGAC others(170): Show TCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGG GATGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCTGGGGGCTGACGCCCCCACCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(105): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02735.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA19005.hp1 NA19007.hp1 NA19043.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(105): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0112 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0113 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0004g0052 a0003c0003t0001g0005 a0003c0003t0001g0020 a0003c0003t0001g0110 a0005c0005t0001g0048 a0005c0005t0001g0051	108	310	0.3484	177	c.-35 others(188): Show c.-3552_-3551insCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCGGGATGGGGGGCTGACCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCTGGGGGCTGACGCCCCCACCTCCCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3299		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77533995	T T	TCCCGGAC others(170): Show TCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCTCGGACGGGGCGGCTGGCGG GATGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCTGGGGGCTGACGCCCCCACCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	310	0.0032	177	c.-35 others(188): Show c.-3552_-3551insCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCTCGGA CGGGGCGGCTGGCGGGATGGGGGGCTGACCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCTGGGGGCTGACGCCCCCACCTCCCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3299		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(170): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC GCCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(30): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG02015.hp2 HG02257.hp1 HG02698.hp2 HG02735.hp1 HG03041.hp2 HG03453.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 NA18612.hp1 NA18942.hp2 NA18957.hp2 NA18971.hp2 NA18993.hp1 NA19005.hp2 NA19082.hp2 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0006 a0002c0002 a0003c0003 a0003c0006	a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0002c0002t0001 a0003c0003t0001 a0003c0006t0001	a0002c0002t0001g0221 a0002c0002t0001g0247 a0003c0003t0001g0172 others(30): Show a0002c0002t0001g0221 a0002c0002t0001g0247 a0003c0003t0001g0172 a0003c0003t0001g0179 a0003c0003t0001g0181 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0186 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0223 a0003c0003t0001g0230 a0003c0006t0001g0201	33	310	0.1065	177	c.-35 others(188): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(170): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC GCCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(65): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01071.hp2 HG01255.hp2 HG01261.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02486.hp2 HG02523.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp2 NA18955.hp2 NA18962.hp1 NA18975.hp1 NA18981.hp1 NA18983.hp2 NA18998.hp1 NA19007.hp2 NA19030.hp1 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19081.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(65): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0007t0001g0252 a0002c0002t0001g0296 a0002c0002t0001g0300 a0002c0002t0001g0301 a0003c0003t0001g0231 a0003c0003t0001g0304 a0004c0004t0001g0285 a0004c0004t0001g0286 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0004t0001g0289 a0004c0004t0001g0290	68	310	0.2194	177	c.-35 others(188): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(170): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC GCCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0299 a0003c0003t0001g0299	1	310	0.0032	177	c.-35 others(188): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(170): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACGGGGGCGGCTGGCCGGGCGGGGGCTGAC GCCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0244 a0003c0003t0001g0244	1	310	0.0032	177	c.-35 others(188): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGGCGGCTGGC CGGGCGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(170): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC GCCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA19060.hp2 NA18980.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0302 a0001c0001t0001g0303	2	310	0.0065	177	c.-35 others(188): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACGCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPRD_chr9_8309246_10618002	9947365	A A	ATATATAG others(170): Show ATATATAGTATATATATATTATATATATAATTTTATATATAAAAAATATA TAAAATATATAATATATATATAATATATATATAAAATATATATTATATAT AATATGTATATAAAATATATATAATATATATTATATATAGTATATATATA TTATATATATAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0025	1	34	0.0294	177	c.-47 others(196): Show c.-471-8756_-471-8755insATATATATAATATATATTATATATAT AATATATATATACTATATATAATATATATTATATATATTTTATATACATA TTATATATAATATATATTTTATATATATATTATATATATATTATATATTT TATATATTTTTTATATATAAAATTATATATATAATATATATATACTATAT A	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(170): Show TATATATAATACATAATATATATTATATAATATATATAATACATAATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT GCATTATATATATTATATAATATATAATACATTATATTTTATATAATATA GATAATACATTATATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0038 a0001c0001t0028g0038	1	220	0.0046	177	c.24+ others(194): Show c.24+13898_24+13899insTTATATAATATATATAATACATAATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT GCATTATATATATTATATAATATATAATACATTATATTTTATATAATATA GATAATACATTATATATATTATATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	81162524	A A	ATATATTT others(170): Show ATATATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02896.hp2 HG03834.hp1 HG01261.hp2 HG02896.hp2 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0031 a0001c0004t0008 a0001c0002t0002 a0001c0002t0031 a0001c0004t0008	a0001c0002t0002g0219 a0001c0002t0031g0143 a0001c0004t0008g0254 a0001c0002t0002g0219 a0001c0002t0031g0143 a0001c0004t0008g0254	3	276	0.0109	177	c.268 others(198): Show c.2687-17650_2687-17649insATATTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATT	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM5_chr3_50083919_50124021	50084928	G G	GGGCGGGG others(170): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTGCCGGACGGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	284	0.0035	177	c.-41 others(188): Show c.-4155_-4154insGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGAGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTGCCGGACGGGGGTGGCTGGCCGGGCGGG GGGCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCA	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3990		chr3	TogoVar
RBM5_chr3_50083919_50124021	50084928	G G	GGGGCGGG others(170): Show GGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTGCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	284	0.0035	177	c.-41 others(188): Show c.-4155_-4154insGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGAGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTGCCGGACGGGGTGGCTGGCCGGGCGGG GGGCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCA	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3990		chr3	TogoVar
RBM5_chr3_50083919_50124021	50084941	A A	ACCCCCCC others(170): Show ACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTGCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCAGGCGGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02145.hp1 HG00597.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0193 a0001c0002t0001g0158 a0001c0002t0001g0193	2	284	0.0070	177	c.-41 others(188): Show c.-4142_-4141insCCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTGCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCC ACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3977		chr3	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(170): Show TATATATATTCATATATATATTCATAATATATATTCATATATATATATTC ATAATATATATTCATATATATATTCATAATATATATTCATATATATATTC ATAATATATATTCATATATATATTCATAATATATATTCATATATATATTC ATAATATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	406	0.0025	177	c.657 others(194): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATGAATATATATTATGAATATATATATGAATATATATTAT GAATATATATATGAATATATATTATGAATATATATATGAATATATATTAT GAATATATATATATGAATATATATTATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCOR1_chr14_102587649_102735561	102676493	A A	AGGGCGGC others(170): Show AGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGATCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03927.hp1 HG01934.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0047 a0001c0001t0002 a0001c0001t0047	a0001c0001t0002g0168 a0001c0001t0047g0226 a0001c0001t0002g0168 a0001c0001t0047g0226	2	292	0.0069	177	c.362 others(194): Show c.362-5379_362-5378insCCCCCCCCCCCGCCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(170): Show CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18955.hp2 NA18980.hp2 HG02630.hp2 NA18955.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0048 a0001c0001t0002 a0001c0001t0004 a0001c0001t0048	a0001c0001t0002g0206 a0001c0001t0004g0165 a0001c0001t0048g0179 a0001c0001t0002g0206 a0001c0001t0004g0165 a0001c0001t0048g0179	3	292	0.0103	177	c.362 others(194): Show c.362-5379_362-5378insCCCCCCCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
REPS2_chrX_16941658_17158272	17050119	C C	CTTCTTTC others(170): Show CTTCTTTCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTTCTTTTCTTTCTTTCTTT TCTTTCTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0090 a0007c0008t0001g0090	1	166	0.0060	177	c.908 others(194): Show c.908-2254_908-2253insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTTCTTTT CTTTCTTTCTTTTCTTTCTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RFX2_chr19_5988164_6115500	6104413	C C	CAAAAAAT others(170): Show CAAAAAATTAGCCGGGCATAGTGGCGGGTGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTTAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp2 HG01109.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	308	0.0065	177	c.-9+ others(192): Show c.-9+5979_-9+5980insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTAACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCACCCGCCACTATGCCCGGCTAATTTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3505389	A A	AATATAAA others(170): Show AATATAAAATAAAATACTTTATATTTATATAAAATATAAAATAAAATACT TTATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAA ATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTTATTTTATA TAAATATAAAATAAAATACTTTATATTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03942.hp2 HG00639.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0090 a0001c0001t0021g0108 a0001c0001t0004g0090 a0001c0001t0021g0108	2	196	0.0102	177	c.-9+ others(194): Show c.-9+20357_-9+20358insAAATATAAAGTATTTTATTTTATATTTA TATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTAT TTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAA AGTATTTTATTTTATATTTTATATAAATATAAAGTATTTTATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGS12_chr4_3288021_3444913	3359033	C C	CTCCCCTC others(170): Show CTCCCCTCCCCCCTCCTCCCCTCCCCCCTTCCTCCTCCTCCCCTCCTCCC TCTCCTCCTCCCCTCCTCCCTCCTCCCGTCCCCCTCCTCCCTCTCCTCAC CTCCCCTCCTCCCTCCTCCCCTCCCCCTCCTCCCTCTCCTCACCTCCCCT CCTCCCTCCTCCCCTCCCCCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG02630.hp2 others(6): Show HG01167.hp1 HG02145.hp2 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp2	a0005 a0005	a0005c0012 a0005c0051 a0005c0052 others(1): Show a0005c0012 a0005c0051 a0005c0052 a0005c0054	a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 others(1): Show a0005c0012t0001 a0005c0051t0001 a0005c0052t0001 a0005c0054t0001	a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 others(6): Show a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0160 a0005c0051t0001g0153 a0005c0052t0001g0159 a0005c0054t0001g0154	9	312	0.0289	177	c.199 others(198): Show c.1998+15980_1998+15981insTCCCCTCCCCCCTCCTCCCCTCCC CCCTTCCTCCTCCTCCCCTCCTCCCTCTCCTCCTCCCCTCCTCCCTCCTC CCGTCCCCCTCCTCCCTCTCCTCACCTCCCCTCCTCCCTCCTCCCCTCCC CCTCCTCCCTCTCCTCACCTCCCCTCCTCCCTCCTCCCCTCCCCCTCCTC CCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17			chr4	TogoVar
RIOK2_chr5_97155867_97188247	97179996	T T	TATATATA others(170): Show TATATATATAATATATATAATATATATATAATATATATATATAAAATATA TATATATAATATATATATATATATATATTATATATATATAAAATATATAT ATAATATATATAATATATATATTATATATAATATATATATAATATATATA TATATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0269 a0003c0003t0005g0269	1	410	0.0024	177	c.67- others(190): Show c.67-804_67-803insTATATATATATTATATATATATTATATATATA TATATTATATATATATTATATATAATATATATATTATATATATTATATAT ATATTTTATATATATATAATATATATATATATATATATTATATATATATA TTTTATATATATATATTATATATATATTATATATATTATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPOR2_chr6_24799284_24940960	24927257	C C	CCACCACT others(170): Show CCACCACTACAGCTACAATCACCACCACCATCACCACCACCACCACCACC ACAACTACAATCACCACCACCACCACCACAACTACAATCACCACCACCAC CACTACAACTACAGTTACCACCACCATCACCACCACCACCACCACAACTA CAATCACCACCACCACCACTACCACCAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0277 a0001c0001t0004g0277	1	328	0.0031	177	c.61+ others(192): Show c.61+8580_61+8581insCTGGTGGTAGTGGTGGTGGTGGTGATTGTA GTTGTGGTGGTGGTGGTGGTGATGGTGGTGGTAACTGTAGTTGTAGTGGT GGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGTGATTGTAGTTGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGATTGTAGCTGTAGTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RNASE10_chr14_20500537_20518884	20506780	C C	CGCCCGGC others(170): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC TCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG00733.hp2 others(20): Show HG00099.hp2 HG00733.hp1 HG00733.hp2 HG01106.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02698.hp2 HG02717.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG04204.hp1 NA18945.hp1 NA18969.hp2 NA18980.hp2 NA19081.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 others(6): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0035 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0002c0002t0068	a0001c0001t0010g0027 a0001c0001t0010g0070 a0001c0001t0010g0072 others(16): Show a0001c0001t0010g0027 a0001c0001t0010g0070 a0001c0001t0010g0072 a0001c0001t0010g0080 a0001c0001t0011g0008 a0001c0001t0011g0029 a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0013g0008 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0024g0075 a0001c0001t0024g0076 a0001c0001t0035g0030 a0001c0001t0035g0062 a0001c0001t0066g0028 a0001c0001t0067g0030 a0001c0001t0069g0069 a0002c0002t0068g0071	23	396	0.0581	177	c.-6+ others(190): Show c.-6+799_-6+800insGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNASE10_chr14_20500537_20518884	20506781	G G	GCCCGGCC others(170): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCT CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0063 a0001c0001t0013g0063	1	396	0.0025	177	c.-6+ others(190): Show c.-6+799_-6+800insGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF17_chr13_24759169_24884921	24882061	C C	CATCTATA others(170): Show CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTAGATATATAGATACATCATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAATC TATATAGATACATCTATATAGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0134 a0004c0004t0002g0134	1	426	0.0024	177	c.23 others(188): Show c.2335_*2336insATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTAGATATATAGATACAT CATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAATCTATATAGATACATCTATATAGATATATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2141		chr13	TogoVar
RNF212_chr4_1066478_1118564	1095984	T T	TCCCACAG others(170): Show TCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACGGAACC AAGCACACCCCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCAT CACGGAACCAAGCACACCCCCCACAGCTCCATGGTCTCGGGATAGCGCAC CTGGCTCATCACGGAACCAAGCACACCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0206 a0001c0001t0001g0208	2	406	0.0049	177	c.246 others(192): Show c.246+780_246+781insGGGTGTGCTTGGTTCCGTGATGAGCCAGGT GCGCTATCCCGAGACCATGGAGCTGTGGGGGGTGTGCTTGGTTCCGTGAT GAGCCAGGTGCGCTATCCCGAGACCATGGAGCTGTGGGGGGTGTGCTTGG TTCCGTGATGAGCCAGGTGCGCTATCCCGAGACCATGGAGCTGTGGG	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
ROCK2_chr2_11174759_11349636	11330945	G G	GGAGGAGG others(170): Show GGAGGAGGGGGGAGGAGGAGGGAGGATGGAGTAGGAGGGGGGAGGACGCA GTAGGAGGGGGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGGAGTAGGAGG GGGGAGGAGGACGAGGGAGGAAGAGGAAAGAGGAGGGAGTAGGAGGGGAG GAGGAGGGAGGAGGAAGGAGGAGTGGGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	320	0.0031	177	c.141 others(196): Show c.141+13050_141+13051insTCCCACTCCTCCTTCCTCCTCCCTCC TCCTCCCCTCCTACTCCCTCCTCTTTCCTCTTCCTCCCTCGTCCTCCTCC CCCCTCCTACTCCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCT ACTGCGTCCTCCCCCCTCCTACTCCATCCTCCCTCCTCCTCCCCCCTCCT C	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RTEL1_chr20_63653312_63701245	63693600	A A	ACCACCTC others(170): Show ACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCAC CACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCA CCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCTCC ACCATCTCCACCACCACCACCTCCACCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0014 a0009c0019t0002g0014	1	60	0.0167	177	c.299 others(194): Show c.2992+322_2992+323insTCCACCACCACCACCTCCACCTCCACCA CCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCACCTCCACC TCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCTCCAC CTCCACCTCCACCTCCACCATCTCCACCACCACCACCTCCACCTCCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693732	T T	TCCACCAC others(170): Show TCCACCACCACCTCCACCACCTCCACCACCACCACCACCACCTCCACCAC CTCCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCT CCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACCACC ACCTCCACCACCACCTCCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	60	0.0167	177	c.299 others(194): Show c.2992+454_2992+455insACCACCTCCACCACCTCCACCACCACCA CCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACC TCCACCTCCACCACCTCCACCACCTCCACCACCACCTCCACCACCTCCAC CACCACCTCCACCACCACCTCCACCACCACCTCCTCCACCTCCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTP5_chr2_241864729_241878823	241878060	C C	CCCCCCAC others(170): Show CCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCC ACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCC CATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCACCCCA TCCCTCTCCTCGCTCCCCTCCCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18979.hp2 NA19068.hp1 others(1): Show HG00621.hp1 NA18979.hp2 NA19068.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0031 a0002c0002t0001 a0002c0002t0031	a0002c0002t0001g0002 a0002c0002t0031g0002 a0002c0002t0001g0002 a0002c0002t0031g0002	4	365	0.0110	177	c.47 others(188): Show c.4786_*4787insCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCC TCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTG GCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCG CCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4238		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878060	C C	CCCCCCAC others(170): Show CCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCC CACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCC CCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCA TCCCTCTCCTCGCTCCCCTCCCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	177	c.47 others(188): Show c.4786_*4787insCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCC TCTCCCGGCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCT GGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCC GCCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4238		chr2	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(170): Show TGGGGGGTTATGTGTATATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCA GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp2 HG02055.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0134 a0001c0001t0004g0129 a0001c0001t0001g0134 a0001c0001t0004g0129	2	232	0.0086	177	c.29- others(194): Show c.29-32585_29-32584insATATGGGGGGTTATGTGTGGGGGGAGTT GTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGT GAGTGCAGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTT GTGTGTGTGTGTGGGGGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(170): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCA GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02109.hp1 HG02723.hp2 others(7): Show HG01943.hp2 HG02109.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0046	a0001c0001t0001g0164 a0001c0001t0004g0149 a0001c0001t0009g0098 others(7): Show a0001c0001t0001g0164 a0001c0001t0004g0149 a0001c0001t0009g0098 a0001c0001t0010g0163 a0001c0001t0011g0099 a0001c0001t0014g0102 a0001c0001t0014g0114 a0001c0001t0023g0148 a0001c0001t0023g0150 a0001c0001t0046g0152	10	232	0.0431	177	c.29- others(194): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCAGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGGTTATGTGTGTGGGGGGG GTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(170): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	232	0.0043	177	c.29- others(194): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGGGGGGGGGGGTTATGTGTGTGGGGGGG GTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(170): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18955.hp1 HG03540.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0050 a0001c0001t0005 a0001c0001t0050	a0001c0001t0005g0165 a0001c0001t0050g0043 a0001c0001t0005g0165 a0001c0001t0050g0043	2	232	0.0086	177	c.29- others(194): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGGTTATGTGTGTGGGGGGG GTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(170): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGGGGGGGGTTATGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	232	0.0043	177	c.29- others(194): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGGGGGGGG GTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(170): Show CCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCT TCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCT TCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCT TCCCTCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	342	0.0029	177	c.45 others(188): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SARDH_chr9_133658560_133743352	133668454	T T	TCCCTCAC others(170): Show TCCCTCACCCTCCCTCTCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTC CCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCT CCCTCTCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTC ACCCTCTCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0004 a0003c0056t0004	a0003c0056t0004g0037 a0003c0056t0004g0037	1	262	0.0038	177	c.249 others(196): Show c.2496-1585_2496-1584insGAGAGGGAGGGTGAGGGAGAGAGAGG GTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGAG GGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAG GGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGAGAGGGAGGGTGAGG G	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668679	C C	CCTCACCC others(170): Show CCTCACCCTCCCTCTCCCTCACCTCCCCTCTCCCCTCATCCTCCCTCTCC CTCACCCTCCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCC CTCACCCTCCCTCTCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCT CACCTCCCTCGCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0003 a0003c0040t0003	a0003c0040t0003g0122 a0003c0040t0003g0122	1	262	0.0038	177	c.249 others(196): Show c.2496-1810_2496-1809insAGAGGGAGGGTGAGGGGCGAGGGAGG TGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGAGAGGGAGGGTG AGGGGAGATGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGGAGGGTG AGGGAGAGGGAGGATGAGGGGAGAGGGGAGGTGAGGGAGAGGGAGGGTGA G	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669224	T T	TACCCTCC others(170): Show TACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTAC CCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0150 a0002c0021t0001g0150	1	262	0.0038	177	c.249 others(196): Show c.2495+1359_2495+1360insGAGGGAGAGGGAGGGTGAGGGAGAGG GAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGA GGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGG T	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCGB1C1_chr11_188078_199575	196510	C C	CTGGTGAG others(170): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	2	354	0.0057	177	c.20 others(188): Show c.2060_*2061insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1936		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277891	C C	CCTCTCCC others(170): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	390	0.0026	177	c.48 others(188): Show c.4896_*4897insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4732		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277892	C C	CTCTCCCT others(170): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTC TCCCTCTCGCTCTCCCTCTCGCTCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	390	0.0026	177	c.48 others(188): Show c.4897_*4898insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCGCTCTCCCTCTCGCTCTCCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4733		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277909	C C	CCTCTCCC others(170): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCGCTCTCCCTCTCGCTCTCCGT CTCCCTCTCGCTCTCCGTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	390	0.0026	177	c.49 others(188): Show c.4914_*4915insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCGCTCTC CCTCTCGCTCTCCGTCTCCCTCTCGCTCTCCGTCTCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4750		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1293764	G G	GGAGGCCC others(170): Show GGAGGCCCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGCCCCGC CCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTG GAGCCCCGCCCCTGCCCTGGAGCCCCGCCCCTGCCCTGGAGTTCCCGCCC CTGCCCTGGAGGCCCCGCCCCTGCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0220 a0003c0004t0003g0220	1	290	0.0035	177	c.21 others(188): Show c.2154_*2155insGAGGCCCCGCCCCTGCCCTGGAGGCCCCGCCCCT GCCCTGGAGCCCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTGGAGGC CCCGCCCCTGCCCTGGAGCCCCGCCCCTGCCCTGGAGCCCCGCCCCTGCC CTGGAGTTCCCGCCCCTGCCCTGGAGGCCCCGCCCCTGCCCTT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		1740		chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(170): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATTCCATATAT ATATATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	324	0.0031	177	c.115 others(194): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SGK1_chr6_134164256_134323112	134193824	A A	AGAGGGGA others(170): Show AGAGGGGAGGGGAGAAGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGAAGG GAGGAGAGGGGAGGGGAGAAGGGAGGAGAGGGGAGGGGAGAAGGGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGGG AGGGGAGGGAAGGGAGGGGAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	250	0.0040	177	c.361 others(196): Show c.361+13531_361+13532insCCTTCTCCTCCCCTCCCTTCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCCTCCCCTCCC CTCTCCTCCCTTCTCCCCTCCCCTCTCCTCCCTTCTCCCCTCCCCTCTCC TCCCTTCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCTTCTCCCCTCCCCT C	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SHISA5_chr3_48462876_48509174	48486247	A A	ATATACTA others(170): Show ATATACTATATATATATTATATATATTATATATTATATACTATATATATT ATATATACTATAGTATATATTATATAATATATATAATATAGTATATATTA TATAATATATACTATATTATATATAGTATATAATACATTATATGTTATAT AACATATAATGTATTATATATTATATGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20905.hp1 HG03239.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	290	0.0069	177	c.234 others(194): Show c.234-6991_234-6990insACATATAATATATAATACATTATATGTT ATATAACATATAATGTATTATATACTATATATAATATAGTATATATTATA TAATATATACTATATTATATATATTATATAATATATACTATAGTATATAT AATATATATAGTATATAATATATAATATATATAATATATATATAGTATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(170): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0212 a0001c0001t0016g0212	1	214	0.0047	177	c.691 others(196): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTC C	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(170): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	214	0.0047	177	c.691 others(196): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTC C	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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