Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(306): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTA CAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(31): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp2 HG01433.hp2 HG01515.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 NA18939.hp2 NA18986.hp1 NA18998.hp2 NA19054.hp2 NA19240.hp2 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0012 a0002c0002 a0005c0012	a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0002t0017 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0005c0012t0002	a0002c0002t0002g0146 a0002c0002t0002g0156 a0002c0002t0002g0157 others(31): Show a0002c0002t0002g0146 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0162 a0002c0002t0002g0178 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0189 a0002c0002t0002g0192 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0003g0144 a0002c0002t0003g0158 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0186 a0002c0002t0003g0201 a0002c0002t0003g0228 a0002c0002t0012g0211 a0002c0002t0012g0216 a0002c0002t0017g0188 a0002c0002t0026g0209 a0002c0002t0029g0168 a0002c0002t0030g0164 a0002c0002t0031g0208 a0002c0002t0032g0024 a0005c0012t0002g0147	34	228	0.1491	313	c.-38 others(332): Show c.-38-11568_-38-11567insTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTAC AGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIGN_chr18_62036164_62192056	62046486	A A	AGGTTGTG others(306): Show AGGTTGTGCACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATATCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTCAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0012 a0001c0001t0018	a0001c0001t0012g0276 a0001c0001t0018g0275 a0001c0001t0012g0276 a0001c0001t0018g0275	2	342	0.0059	313	c.267 others(330): Show c.2673-508_2673-507insGGCCGGGCGCGGTGGCTGACGCTTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAGAAGTGCACAACC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62046486	A A	AGGTTGTG others(306): Show AGGTTGTGCACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATATCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(68): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01257.hp2 HG01261.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG02922.hp2 HG03239.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp1 NA18951.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18999.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp1 NA19063.hp1 NA19066.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0003 a0001c0016 others(2): Show a0001c0001 a0001c0003 a0001c0016 a0004c0007 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0030 a0001c0001t0039 a0001c0001t0040 a0001c0001t0056 a0001c0001t0076 a0001c0001t0127 a0001c0001t0128 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0149 a0001c0001t0153 a0001c0003t0002 a0001c0003t0129 a0001c0016t0003 a0004c0007t0148 a0009c0018t0030	a0001c0001t0001g0055 a0001c0001t0001g0198 a0001c0001t0001g0225 others(68): Show a0001c0001t0001g0055 a0001c0001t0001g0198 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0002g0133 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0003g0195 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0229 a0001c0001t0003g0265 a0001c0001t0003g0270 a0001c0001t0003g0277 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0249 a0001c0001t0005g0267 a0001c0001t0005g0273 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0012g0222 a0001c0001t0012g0223 a0001c0001t0012g0248 a0001c0001t0012g0266 a0001c0001t0012g0271 a0001c0001t0013g0185 a0001c0001t0013g0220 a0001c0001t0013g0253 a0001c0001t0013g0263 a0001c0001t0017g0213 a0001c0001t0017g0219 a0001c0001t0017g0252 a0001c0001t0017g0268 a0001c0001t0018g0054 a0001c0001t0018g0232 a0001c0001t0018g0264 a0001c0001t0018g0272 a0001c0001t0023g0255 a0001c0001t0023g0257 a0001c0001t0023g0284 a0001c0001t0030g0269 a0001c0001t0039g0259 a0001c0001t0039g0262 a0001c0001t0040g0261 a0001c0001t0056g0134 a0001c0001t0076g0260 a0001c0001t0127g0216 a0001c0001t0128g0217 a0001c0001t0131g0208 a0001c0001t0132g0211 a0001c0001t0133g0280 a0001c0001t0149g0314 a0001c0001t0153g0320 a0001c0003t0002g0226 a0001c0003t0129g0227 a0001c0016t0003g0209 a0004c0007t0148g0316 a0009c0018t0030g0281	71	342	0.2076	313	c.267 others(330): Show c.2673-508_2673-507insGGCCGGGCGCGGTGGCTGACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAGAAGTGCACAACC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PJA2_chr5_109329722_109414974	109357304	C C	CAAAAATA others(306): Show CAAAAATAGTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	346	0.0029	313	c.165 others(332): Show c.1653-1279_1653-1278insTTTTTTTTTTTTTTTTTTTGAGACAG AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCAAAACTATTTTT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	6/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(306): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	306	0.0033	313	c.349 others(332): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(306): Show GAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAG GAAGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG AAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0030 a0030	a0030c0060 a0030c0060	a0030c0060t0005 a0030c0060t0005	a0030c0060t0005g0022 a0030c0060t0005g0022	1	134	0.0075	313	c.575 others(334): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTCCC TCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(306): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTA GGACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	378	0.0027	313	c.803 others(328): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PLCL1_chr2_197799593_198154863	197898724	T T	TTTCCTAG others(306): Show TTTCCTAGTTTCTTTCTTTTTTCTTTTTCTTTTTTCTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGG CTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03516.hp1 HG01261.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0010 a0001c0004t0001 a0001c0004t0010	a0001c0004t0001g0119 a0001c0004t0010g0047 a0001c0004t0001g0119 a0001c0004t0010g0047	2	204	0.0098	313	c.240 others(332): Show c.240+93399_240+93400insCTTTTTTCTTTTTCTTTTTTCTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC CACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACTTCCTAGTTTCTTT	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLPP3_chr1_56489761_56584563	56530360	T T	TCAGCCTA others(306): Show TCAGCCTACCCCTTTCCCCTAATTGGCCCAATTCCAATCTTCTGCTAACT CTCCCACCTGGAGATGTTAGTAGCATTTCAAATTAACCAAGTCTAAGGTC ACACCCATTCCCACTCCTGTCCCAAACTTCACTTCTCTTCCCTCTAGTTC TGCTCAAGATGCCACCAAGCATATGACTGACAAAGATGTGCAATCTTAGA CTCCTTCCTCTCCCTTATCCCATTGTCCATCCGGCTTTTGCAGTCTTTTG CATCCATCTTTTTCTATTTCCCTTGCATTGCCACCACTGTGGTTCAGGCC TCATCTTTACCTTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp1 HG02559.hp1 others(5): Show HG01167.hp2 HG01255.hp1 HG02559.hp1 HG02647.hp1 HG02970.hp2 HG03098.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0002g0228 a0001c0001t0003g0135 a0001c0001t0003g0225 others(5): Show a0001c0001t0002g0228 a0001c0001t0003g0135 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0269 a0001c0001t0003g0274 a0001c0001t0004g0270 a0001c0001t0017g0267	8	336	0.0238	313	c.298 others(330): Show c.298-5807_298-5806insCAAGGTAAAGATGAGGCCTGAACCACAG TGGTGGCAATGCAAGGGAAATAGAAAAAGATGGATGCAAAAGACTGCAAA AGCCGGATGGACAATGGGATAAGGGAGAGGAAGGAGTCTAAGATTGCACA TCTTTGTCAGTCATATGCTTGGTGGCATCTTGAGCAGAACTAGAGGGAAG AGAAGTGAAGTTTGGGACAGGAGTGGGAATGGGTGTGACCTTAGACTTGG TTAATTTGAAATGCTACTAACATCTCCAGGTGGGAGAGTTAGCAGAAGAT TGGAATTGGGCCAATTAGGGGAAAGGGGTAGGCTG	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	2/5			chr1	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(306): Show GTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp2 HG02056.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0105 a0001c0001t0001g0141	2	270	0.0074	313	c.200 others(330): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPP2CB_chr8_30780616_30817818	30786497	A A	ATGGTGAA others(306): Show ATGGTGAAAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01168.hp2 others(28): Show HG00738.hp2 HG01081.hp1 HG01168.hp2 HG01258.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG03579.hp1 NA18522.hp2 NA18961.hp2 NA18963.hp1 NA18970.hp1 NA18977.hp2 NA18987.hp1 NA19001.hp1 NA19060.hp1 NA19084.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0019 others(18): Show a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0065	31	304	0.1020	313	c.858 others(328): Show c.858-191_858-190insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CAAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAATTTTCACCA	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding	6/6			chr8	TogoVar
PRDM15_chr21_41793225_41884344	41865114	A A	ATGCCTGC others(306): Show ATGCCTGCTCACTCCTCAGTCCCCACTCCCCACTCCCCGGCTCACTCCTC ACTCCCCTGCTCACTCCTCACTCCCCAGCCCTCTCTGCCATGCCTGCTCA CTCCTCAGTCCCCACTCCCCACTCCCCGGCTCACTCCTCACTCCCCTGCT CACTCCTCACTCCCCTGCTCACTCCTCACTCCCCAGCCCTCTCTGCAATG CCCGCTCACTCCTCAGTCCCCACTCCCCACTCCCCTGCTCAGTCCTCACT CCCCAGCCCTCTCTGCAAGTTCCCACTCCCCTGCTCACTCCTCACTCCCC AGCCCTCTCTGCCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG02486.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0063 a0001c0001 a0001c0063	a0001c0001t0006 a0001c0063t0005 a0001c0001t0006 a0001c0063t0005	a0001c0001t0006g0119 a0001c0063t0005g0121 a0001c0001t0006g0119 a0001c0063t0005g0121	2	406	0.0049	313	c.-9- others(328): Show c.-9-4743_-9-4742insCGGCAGAGAGGGCTGGGGAGTGAGGAGTGA GCAGGGGAGTGGGAACTTGCAGAGAGGGCTGGGGAGTGAGGACTGAGCAG GGGAGTGGGGAGTGGGGACTGAGGAGTGAGCGGGCATTGCAGAGAGGGCT GGGGAGTGAGGAGTGAGCAGGGGAGTGAGGAGTGAGCAGGGGAGTGAGGA GTGAGCCGGGGAGTGGGGAGTGGGGACTGAGGAGTGAGCAGGCATGGCAG AGAGGGCTGGGGAGTGAGGAGTGAGCAGGGGAGTGAGGAGTGAGCCGGGG AGTGGGGAGTGGGGACTGAGGAGTGAGCAGGCA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	1/23			chr21	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(306): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGGGGCC CCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	358	0.0028	313	c.30 others(324): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCCGCC GCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGCGCC CCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCGCGC CCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCGCCC CCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCCCGGGAGC CGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKAG2_chr7_151551127_151882115	151855389	A A	ACACCGCC others(306): Show ACACCGCCCTCCACACACACCATCCTCCACACACACCACCCTCCACACAC CACCCTCCACACACACCGCCCTCCACACACCGCCCTCCACACACACCACT TTACACACACGCCACCCTCCACACACCACCCTACACACACACCACCCTCC ACACACGCCACCCTCCACACACACCACCCTCCACACACACCACGCTCCAC ACACACCGCCCTCCACACACACCACCCTCCACACACACCACCCTCCACAC ACACCACCCTCCACACACCACCCTCCACACACACCACCCTCCACACACCA CCCTCCACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00673.hp1 others(19): Show HG00280.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01192.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02083.hp1 HG02647.hp2 HG02698.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 NA18906.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0027 a0001c0002t0007 a0001c0003t0002 a0008c0012t0004	a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0077 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0002g0048 a0001c0001t0002g0071 a0001c0001t0002g0114 a0001c0001t0003g0090 a0001c0001t0003g0180 a0001c0001t0005g0216 a0001c0001t0005g0236 a0001c0001t0006g0085 a0001c0001t0011g0241 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0027g0127 a0001c0002t0007g0065 a0001c0003t0002g0165 a0008c0012t0004g0246	22	252	0.0873	313	c.114 others(332): Show c.114+21117_114+21118insGTGTGTGTGGAGGGTGGTGTGTGGAG GGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTG GTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGT GTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGCGTGTGTGGAGGGTGGTGT GTGTGTAGGGTGGTGTGTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGT GGAGGGCGGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGGAGGG TGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCB_chr16_23830983_24225611	23853966	T T	TCAAGGCA others(306): Show TCAAGGCACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0057 a0001c0003t0024g0057	1	148	0.0068	313	c.205 others(332): Show c.205+16573_205+16574insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAAGGCACTTCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122364	T T	TCACGGCG others(306): Show TCACGGCGGTAGTTAGGGTCATGGCTGTAGTTAGCGTCACGGTGGTAGTT AGGGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCATGGTGGTAGTGATTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGTGGTAGTTAGGGTCACGGCGGTAGTTAGGGTCACGGCGGTAG TTAGGGTCACGGCGGTAGTTAGGGTCATGGCTGTAGTTAGCGTCACGGTG GTAGTTAGGGTCAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	286	0.0035	313	c.335 others(332): Show c.335-12898_335-12897insCACGGCGGTAGTTAGGGTCATGGCTG TAGTTAGCGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTGATTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGC GGTAGTTAGGGTCACGGCGGTAGTTAGGGTCACGGCGGTAGTTAGGGTCA TGGCTGTAGTTAGCGTCACGGTGGTAGTTAGGGTCAC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRRX2_chr9_129660647_129727674	129689816	A A	AATCTTGG others(306): Show AATCTTGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGTGATTCTCCTG CCTCAGTCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAG CTAATTTTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGC TGGTCTCAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAAC GTGTTGGGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTT TTTTTTTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGG AGTGCAGTGGCGTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18966.hp2 NA18980.hp2 others(1): Show NA18960.hp2 NA18966.hp2 NA18980.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0155 a0001c0001t0002g0001 a0001c0001t0002g0155	4	358	0.0112	313	c.259 others(332): Show c.259+23719_259+23720insGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAATT TTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCT CAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTTG GGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTT TTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGCA GTGGCGTGATCTTGGCTCACTGCAACCTCTGTCTCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129689821	T T	TGGCTCAC others(306): Show TGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GTCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAAT TTTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTC TCAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTT GGGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTT TTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGC AGTGGCGTGATCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(104): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01175.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 others(104): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0333 a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0113 a0001c0001t0002g0143 a0001c0001t0002g0210 a0001c0001t0002g0220 a0001c0001t0002g0234 a0001c0001t0002g0247 a0001c0001t0002g0265 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0295 a0001c0001t0002g0309 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0003g0007 a0001c0001t0003g0041 a0001c0001t0003g0054 a0001c0001t0003g0162 a0001c0001t0003g0166 a0001c0001t0003g0208 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0250 a0001c0001t0003g0324 a0001c0001t0004g0211 a0001c0001t0004g0268 a0001c0001t0004g0275 a0001c0001t0004g0341 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0209 a0001c0001t0006g0042 a0001c0001t0006g0094 a0001c0001t0006g0224 a0001c0001t0007g0204 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0351 a0001c0001t0008g0022 a0001c0001t0011g0310 a0001c0001t0012g0170 a0001c0001t0013g0288 a0001c0001t0016g0163 a0001c0001t0018g0308 a0001c0001t0020g0305 a0001c0001t0021g0304 a0001c0003t0001g0089	107	358	0.2989	313	c.259 others(332): Show c.259+23719_259+23720insGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAATT TTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCT CAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTTG GGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTT TTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGCA GTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129689821	T T	TGGCTCAC others(306): Show TGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GTCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAAT TTTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTC TCAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACTTGTT GGGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTT TTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGC AGTGGCGTGATCTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	358	0.0028	313	c.259 others(332): Show c.259+23719_259+23720insGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAATT TTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCT CAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACTTGTTG GGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTT TTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGCA GTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492490	C C	CCGGGAGA others(306): Show CCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGC CCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGA GGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTTCCCG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	295	0.0034	313	c.126 others(332): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGTCCAGGGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAG GCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCA GGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(306): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	340	0.0029	313	c.24- others(328): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTT TCGTATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RALGAPA1_chr14_35533356_35814295	35650941	A A	AGGAATTA others(306): Show AGGAATTACATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02647.hp1 HG02965.hp1 others(2): Show HG01993.hp2 HG02647.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0145 a0001c0002t0001g0147 others(2): Show a0001c0002t0001g0140 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0266 a0001c0002t0001g0267	5	272	0.0184	313	c.567 others(330): Show c.5676+863_5676+864insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAATGTAATTCC	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	31/41			chr14	TogoVar
RALGAPA1_chr14_35533356_35814295	35650941	A A	AGGAATTA others(306): Show AGGAATTACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp1 HG03579.hp1 HG02723.hp1 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144	3	272	0.0110	313	c.567 others(330): Show c.5676+863_5676+864insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAGTAATTCC	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	31/41			chr14	TogoVar
RBFOX1_chr16_6014024_7718340	6293832	A A	ACCAGAGG others(306): Show ACCAGAGGAAGAGAGACACACCAGAGAATACCTAGGCAATATGACAGCTA CATTGTAGTGGGAAGCACGTGGTGAAGGGACACATAGCCCAGAAAGGTAG AGTGAGGTCAGCTTGTTGGTTCTACAGATGCAGCTCTAAGGCATTTACCA ATATCCCTTAGGCAGCGGGGAACCATTGAAGGTGGTATATGAAAGCCATG ATCATCCTGGGTACAGCTTTCAAAGCCCATCCTATTAGATGAATGTTCTT GCTCCATTGAGAATATTCAGCAATTAAAATTTACTAGCATAGAATGCCAT CAGAGTCACCCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG02451.hp1 others(12): Show HG00140.hp1 HG00140.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0029 a0001c0001t0036 a0001c0001t0042	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0030 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0002g0016 a0001c0001t0003g0050 a0001c0001t0004g0033 a0001c0001t0008g0034 a0001c0001t0011g0035 a0001c0001t0012g0054 a0001c0001t0013g0018 a0001c0001t0015g0045 a0001c0001t0022g0009 a0001c0001t0029g0001 a0001c0001t0036g0032 a0001c0001t0042g0022	15	68	0.2206	313	c.-12 others(334): Show c.-126-23162_-126-23161insCAGAGGAAGAGAGACACACCAGAG AATACCTAGGCAATATGACAGCTACATTGTAGTGGGAAGCACGTGGTGAA GGGACACATAGCCCAGAAAGGTAGAGTGAGGTCAGCTTGTTGGTTCTACA GATGCAGCTCTAAGGCATTTACCAATATCCCTTAGGCAGCGGGGAACCAT TGAAGGTGGTATATGAAAGCCATGATCATCCTGGGTACAGCTTTCAAAGC CCATCCTATTAGATGAATGTTCTTGCTCCATTGAGAATATTCAGCAATTA AAATTTACTAGCATAGAATGCCATCAGAGTCACCCTTTC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6637355	T T	TAATATAT others(306): Show TAATATATATAATATACAATATATATTGTATATTATATATATTATATAAT ATACAATATATATTTTATATAATATATATAATATACAATATATATTGTAT ATTATATAATATATATAATATACAATATATATTTATATATTATATATTAT ATATATAATATACAATATATATTGTATATTATATAATATATATAATATAC AATATATATTGTATATTATATATATTATATAATATACAATATATATTGTA TATTATATATATTATATAATATACAATATATATTGTATATTATATATATA TAATATATAATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0023 a0001c0002t0038g0023	1	68	0.0147	313	c.-63 others(332): Show c.-63-17248_-63-17247insAATATATATAATATACAATATATATT GTATATTATATATATTATATAATATACAATATATATTTTATATAATATAT ATAATATACAATATATATTGTATATTATATAATATATATAATATACAATA TATATTTATATATTATATATTATATATATAATATACAATATATATTGTAT ATTATATAATATATATAATATACAATATATATTGTATATTATATATATTA TATAATATACAATATATATTGTATATTATATATATTATATAATATACAAT ATATATTGTATATTATATATATATAATATATAATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7176222	T T	TAATACTT others(306): Show TAATACTTGGTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGATCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	68	0.0147	313	c.27+ others(332): Show c.27+124127_27+124128insACTTGGTTCTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGATCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(306): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	166	0.0060	313	c.908 others(330): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTT CTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF125_chr18_32013825_32078219	32033309	C C	CAAAACTA others(306): Show CAAAACTAGAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0329 a0001c0001t0024g0329	1	360	0.0028	313	c.165 others(330): Show c.165-3793_165-3792insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAACTAGAAGGGA	RNF125	ENSG00000101695.9	transcript	ENST00000217740.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF150_chr4_140854807_141138469	141000078	A A	AAGAAGAA others(306): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGACGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAAGAAGGAGAAGG AGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGAAGGAGGAGAAG GAGGAGAAGGAGGAGAAGGAGGAGAAGAAGAAGAAGGAGAAGAAGGAGGA GAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0052 a0001c0001t0028g0052	1	184	0.0054	313	c.485 others(332): Show c.485-32206_485-32205insCCTTCTTCTTCTTCTCCTCCTTCTTC TCCTTCTTCTTCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTT CTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTTCT TCTCCTTCTTCTCCTTCTCCTTCTTCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
ROCK2_chr2_11174759_11349636	11213565	T T	TAAAATAT others(306): Show TAAAATATTTATTACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0029 a0002c0002t0014g0029	1	320	0.0031	313	c.204 others(330): Show c.2043+791_2043+792insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGGTAATAAATATTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	17/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(306): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18991.hp2 HG02886.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0003 a0001c0001t0007 a0002c0002t0003	a0001c0001t0007g0274 a0002c0002t0003g0014 a0001c0001t0007g0274 a0002c0002t0003g0014	2	320	0.0063	313	c.324 others(328): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RORA_chr15_60483284_61234302	60708218	C C	CAAAATGT others(306): Show CAAAATGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGAACATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	1	118	0.0085	313	c.167 others(332): Show c.167-29533_167-29532insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGTTCT CGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTACATTTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RTF1_chr15_41412095_41488563	41430009	T T	TTTTCTTT others(306): Show TTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCT TATTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	226	0.0044	313	c.199 others(330): Show c.199-8311_199-8310insTTCTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCA AAGTGCTGGGATTACAGGCTTATTTTTTCTTTTCT	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
RTF1_chr15_41412095_41488563	41430009	T T	TTTTTTTT others(306): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCT TATTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0205 a0001c0001t0013g0205	1	226	0.0044	313	c.199 others(330): Show c.199-8311_199-8310insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCTTATTTTTTCTTTTCT	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
RTP5_chr2_241864729_241878823	241874867	A A	AGAAACCC others(306): Show AGAAACCCCAATCCAGGTCTCAGGGGCTGAAATGCAGGGACGGGGGTCCT AGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTC CTAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGG TCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAG GGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACG AGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGA CGAGGGTCCCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG02559.hp1 HG03195.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0005 a0005c0005t0005g0005	2	365	0.0055	313	c.15 others(324): Show c.1593_*1594insGAAACCCCAATCCAGGTCTCAGGGGCTGAAATGC AGGGACGGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAACT GCAGGGACGAGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGCCCAA CTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGGGCCC AACTGCAGGGACGAGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGGC CCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGTCTCAGG GCCCAACTGCAGGGACGAGGGTCCCAGGG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1045		chr2	TogoVar
RYR2_chr1_237037184_237838988	237405894	T T	TGAAAAAA others(306): Show TGAAAAAACTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0017 a0001c0042t0017	a0001c0042t0017g0050 a0001c0042t0017g0050	1	100	0.0100	313	c.774 others(332): Show c.774-11141_774-11140insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAAAAAACTTTCTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133669010	C C	CCCTCACC others(306): Show CCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTCCC TCTCCCTCACCCTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTC TCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCTCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCC CTTACCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0239 a0002c0004t0004g0239	1	262	0.0038	313	c.249 others(332): Show c.2495+1573_2495+1574insAGAGGGAGGGTAAGGGAGAGGGAAGG AGAGAGAGAGGGAGGGTGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTG AGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGTGA GGGAGAGGGAGGGTAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGGGAGG GTAAGGGAAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAAGG TGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCFD2_chr4_52867982_53371061	52985668	T T	TAAAAAAT others(306): Show TAAAAAATTAGTCCAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01106.hp1 others(28): Show HG00642.hp1 HG00735.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG02145.hp2 HG02155.hp2 HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03704.hp1 NA18906.hp1 NA18941.hp1 NA18971.hp2 NA18973.hp1 NA19007.hp1 NA19009.hp2 NA19091.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0002 a0002c0006 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0005 a0001c0005t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0008 a0002c0006t0001 a0004c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0003t0003g0132 a0001c0003t0005g0120 a0001c0005t0001g0034 a0001c0005t0001g0037 a0001c0005t0001g0039 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0001g0036 a0002c0002t0001g0082 a0002c0002t0001g0092 a0002c0002t0008g0097 a0002c0006t0001g0098 a0004c0010t0001g0001 a0004c0010t0001g0002	31	162	0.1914	313	c.156 others(334): Show c.1562-64799_1562-64798insTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCTGGACTAATTTTTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	52985668	T T	TAAAAAAT others(306): Show TAAAAAATTAGTCCAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCATTTCAGCCTGGGCGACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	162	0.0062	313	c.156 others(334): Show c.1562-64799_1562-64798insTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTCTGTCGCCCAGGCTGAAATGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCTGGACTAATTTTTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	T T	TATATAAT others(306): Show TATATAATATATGTATATATAATATATATTATATATAATATATGTATATA TATAATATACATATATAATATATGTATATATAATATACATATATAATATA TGTATATATAATATACATATATAATATATGTATATATATAATATACATAT ATAATATATGTATATTATATAATATATGTATATATATAATATACATATAT AATATATGTATATATATAATATACATATATAATATATGTATATATATAAT ATACATATATAATATATGTATATATATAATATACATATATAATATATGTA TATATATAATATAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	100	0.0100	313	c.64- others(330): Show c.64-83732_64-83731insATATATGTATATATAATATATATTATAT ATAATATATGTATATATATAATATACATATATAATATATGTATATATAAT ATACATATATAATATATGTATATATAATATACATATATAATATATGTATA TATATAATATACATATATAATATATGTATATTATATAATATATGTATATA TATAATATACATATATAATATATGTATATATATAATATACATATATAATA TATGTATATATATAATATACATATATAATATATGTATATATATAATATAC ATATATAATATATGTATATATATAATATACATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(306): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATTCCATATATATATATATTCCATATATATATTCCATA TATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	324	0.0031	313	c.115 others(330): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATGGAATATATATATATATGGAATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERAC1_chr6_158104519_158173262	158169660	A A	ATATATTG others(306): Show ATATATTGTATATTATATAATATATTGTATATTATACAATATATTGTATA TTATATAATATATAATATATTGTATATTATATAATATATTATATAATATA TAATATATTGTATATTATATAATATATAATATATTGTATATTATATATAA TATATTGTATATTATATATAATATATTGTATATTATATATAATATATTGT ATATTATATATAATATATTGTATATTATATATAATATATTGTATATTATA TATAATATATTGTATATTATATATTATATAATATATTGTATATTGTATAT TATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0021 a0006c0008t0021	a0006c0008t0021g0025 a0006c0008t0021g0025	1	366	0.0027	313	c.-15 others(324): Show c.-1523_-1522insCAATATATTATATAATATACAATATACAATATAT TATATAATATATAATATACAATATATTATATATAATATACAATATATTAT ATATAATATACAATATATTATATATAATATACAATATATTATATATAATA TACAATATATTATATATAATATACAATATATTATATATAATATACAATAT ATTATATATTATATAATATACAATATATTATATATTATATAATATATTAT ATAATATACAATATATTATATATTATATAATATACAATATATTGTATAAT ATACAATATATTATATAATATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1399		chr6	TogoVar
SERPINA4_chr14_94556442_94574906	94558268	A A	ACAAGGAC others(306): Show ACAAGGACAGCCTTTTTTTTTTTTTTTTTTTTTTGAGAGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01975.hp1 others(4): Show HG00735.hp1 HG01256.hp2 HG01975.hp1 HG02257.hp1 HG02486.hp2 HG02897.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0013 a0001c0003t0001g0003 a0001c0003t0001g0013	7	428	0.0164	313	c.-32 others(324): Show c.-3244_-3243insCAAGGACAGCCTTTTTTTTTTTTTTTTTTTTTTG AGAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC	SERPINA4	ENSG00000100665.12	transcript	ENST00000557004.6	protein_coding		3173		chr14	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(306): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01175.hp1 HG01175.hp2 others(9): Show HG01071.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG02040.hp1 HG04199.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18991.hp1 NA19012.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0009 a0002c0003t0001g0016 others(8): Show a0002c0003t0001g0002 a0002c0003t0001g0009 a0002c0003t0001g0016 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0060 a0002c0003t0001g0071 a0002c0003t0001g0114	12	384	0.0313	313	c.-83 others(322): Show c.-839_-838insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTGTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SERPINF2_chr17_1737871_1760265	1740324	A A	AGCCGGAC others(306): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACACTGAGGGT GGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGC CTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02155.hp2 NA18945.hp2 HG02027.hp2 HG02155.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0068 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0068	3	445	0.0067	313	c.-25 others(324): Show c.-2589_-2588insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAG TGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCG CAGGACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2546		chr17	TogoVar
SGPL1_chr10_70810948_70886184	70845656	T T	TTACCTTC others(306): Show TTACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTC TGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGG GACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG04184.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0033 a0001c0003t0004 a0001c0003t0033	a0001c0003t0004g0042 a0001c0003t0004g0234 a0001c0003t0033g0042 a0001c0003t0004g0042 a0001c0003t0004g0234 a0001c0003t0033g0042	3	402	0.0075	313	c.193 others(330): Show c.193+1027_193+1028insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTTTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTACCTTCTT	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SHC2_chr19_411589_466033	457347	A A	AGGCCTTT others(306): Show AGGCCTTTGCACCTGCACCTGCTGTGCCCCGTCTAGAACTATGTCTGCAA ACCCCACCGCATCGGGCCTTTGCACCTGCACCTGCTGTGCCCCGTCTAGA ACTCTGTCTGCAAACCCCACCACATCAGGCCTTTGCACCTGCACCTGCTG TGCCCCGACTAGAACTCTGTCTGCAAACCCCACCATATCAGGCCTTTGCA CCTGCACCTGCTGTACCCCCCTAGATCTCTGTCTGCAAACCCACCATATC AGGCCTTTGCACCTGCACCTGCTGTGCCCCGTCTAGAACTATGTCTGCAA ACCCCACCGCATCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	212	0.0047	313	c.468 others(330): Show c.468+3181_468+3182insCGATGCGGTGGGGTTTGCAGACATAGTT CTAGACGGGGCACAGCAGGTGCAGGTGCAAAGGCCTGATATGGTGGGTTT GCAGACAGAGATCTAGGGGGGTACAGCAGGTGCAGGTGCAAAGGCCTGAT ATGGTGGGGTTTGCAGACAGAGTTCTAGTCGGGGCACAGCAGGTGCAGGT GCAAAGGCCTGATGTGGTGGGGTTTGCAGACAGAGTTCTAGACGGGGCAC AGCAGGTGCAGGTGCAAAGGCCCGATGCGGTGGGGTTTGCAGACATAGTT CTAGACGGGGCACAGCAGGTGCAGGTGCAAAGGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SIRPB1_chr20_1556385_1625009	1565567	T T	TAAGAAAT others(306): Show TAAGAAATGTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	364	0.0028	313	c.3- others(324): Show c.3-71_*3-70insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAGGAAACATTTCTT	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding	5/5			chr20	TogoVar
SLC22A23_chr6_3263973_3462050	3355931	T T	TTGTAGGA others(306): Show TTGTAGGAAGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	222	0.0045	313	c.914 others(332): Show c.914-31930_914-31929insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAACTTCCTACA	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC28A2_chr15_45247234_45282846	45277714	T T	TGGGAATG others(306): Show TGGGAATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCGCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01081.hp2 others(12): Show HG00140.hp1 HG00741.hp2 HG01081.hp2 HG01515.hp1 HG01515.hp2 HG01978.hp2 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02809.hp1 HG03516.hp1 HG04115.hp2 NA18957.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0011 a0001c0003t0024 a0002c0002t0008 others(1): Show a0001c0003t0011 a0001c0003t0024 a0002c0002t0008 a0002c0002t0023	a0001c0003t0011g0004 a0001c0003t0011g0051 a0001c0003t0011g0054 others(10): Show a0001c0003t0011g0004 a0001c0003t0011g0051 a0001c0003t0011g0054 a0001c0003t0011g0129 a0001c0003t0024g0053 a0002c0002t0008g0002 a0002c0002t0008g0013 a0002c0002t0008g0017 a0002c0002t0008g0110 a0002c0002t0008g0111 a0002c0002t0008g0114 a0002c0002t0008g0122 a0002c0002t0023g0016	15	304	0.0493	313	c.22 others(324): Show c.2212_*2213insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCGCCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGGGAATGTTTT	SLC28A2	ENSG00000137860.12	transcript	ENST00000347644.8	protein_coding	18/18	2213	INFO_REALIGN_3_PRIME	chr15	TogoVar

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