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
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(587): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0171 a0001c0056t0001g0171	1	141	0.0071	594	c.282 others(613): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAG TCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTAT ACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137379388	G G	GGGGCGTC others(587): Show GGGGCGTCTGTGTGAGGGGTACGGGGTTTGCGGGTGATGGTGACCGATGC CTGGGGCCGAGGGGAATGGGGCATCTGTGTGAGGGGTACGGGGTTTGTGG GTGACGGGGACCGTTGCCTGGGGCTGAGGGGAATGGGGCGTCTGAGGGGT ACGGGGTTTGCGGGTGACGGTGACCGATGCCTGGGGCCGAGGGGAATGGG GCGTCTGTGTGAGGGGTACGGGGTTCGTGGGTGACAGTGACCGTTGCCTG GGGCCGAGGGGAATGGGGCGTCTGTGTGAGGGGTACGGGGTTTGCGGGTG ACGGTGACCGTTGCCTGGGGCCGAGGGGAATGGGGCGTCTGTGTGAGGGG TACGGGGTTTGCGGGTGACGGTGACCGTTGCCTGGGGCCGAGGGGAATGG GGCGTCTGTGTGAGGGGTACGGGGTTTGCGGGTGATGGTGACCGATGCCT GGGGCCGAGGGGAATGGGGCGTCTGTGTGAGGGGTACGGGGTTTGTGGGT GACGGGGACCGTTGCCTGGGGCCGAGGGGAATGGGGCGTCTGAGGGGTAC GGGGTTTGCGGGTGACGGTGACCGATGCCTGGGGCCGAGGGGAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0066 a0006c0005t0001g0066	1	76	0.0132	594	c.120 others(611): Show c.120+3924_120+3925insATTCCCCTCGGCCCCAGGCATCGGTCAC CGTCACCCGCAAACCCCGTACCCCTCAGACGCCCCATTCCCCTCGGCCCC AGGCAACGGTCCCCGTCACCCACAAACCCCGTACCCCTCACACAGACGCC CCATTCCCCTCGGCCCCAGGCATCGGTCACCATCACCCGCAAACCCCGTA CCCCTCACACAGACGCCCCATTCCCCTCGGCCCCAGGCAACGGTCACCGT CACCCGCAAACCCCGTACCCCTCACACAGACGCCCCATTCCCCTCGGCCC CAGGCAACGGTCACCGTCACCCGCAAACCCCGTACCCCTCACACAGACGC CCCATTCCCCTCGGCCCCAGGCAACGGTCACTGTCACCCACGAACCCCGT ACCCCTCACACAGACGCCCCATTCCCCTCGGCCCCAGGCATCGGTCACCG TCACCCGCAAACCCCGTACCCCTCAGACGCCCCATTCCCCTCAGCCCCAG GCAACGGTCCCCGTCACCCACAAACCCCGTACCCCTCACACAGATGCCCC ATTCCCCTCGGCCCCAGGCATCGGTCACCATCACCCGCAAACCCCGTACC CCTCACACAGACGCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXOC2_chr6_480154_698139	528886	A A	AATAAATC others(587): Show AATAAATCCAGTGAGGACTTTGAAATTCCAAGTGGTGGTAACTAGCCGGA TGCAGAAGAACCCTAAGATAAATCCAGTGAGGACTTTGAAATTCCAAGTG GTGGTAACTAGCCGGATGCAGAAGAACCCTAAGATAAATCCAGTGAGGAC TTTGAAATTCCAAGTGGTGGTAACTAGCCGGATGCAGAAGAACCCTAAGA TAAATCCAGTGAGGACTTTGAAATTCCAAGTGGTGGTAACTAGCCGGATG CAGAAGAACCCTAAGATAAATCCAGTGAGGACTTTGAAATTCCAAGTGGT GGTAACTAGCCGGATGCAGAAGAACCCTAAGATAAATCCAGTGAGGACTT TGAAATTCCAAGTGGTGGTAACTAGCCGGATGCAGAAGAACCCTAAGATA AATCCAGTGAGGACTTTGAAATTCCAAGTGGTGGTAACTAGCCGGATGCA GAAGAACCCTAAGATAAATCCAGTGAGGACTTTGAAATTCCAAGTGGTGG TAACTAGCCGGATGCAGAAGAACCCTAAGATAAATCCAGTGAGGACTTTG AAATTCCAAGTGGTGGTAACTAGCCGGATGCAGAAGAACCCTAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(82): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01255.hp2 HG01517.hp2 HG01884.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG03017.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19057.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19086.hp1 NA19086.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0021 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0013t0001 a0001c0021t0003 a0003c0006t0004	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 others(82): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0002g0239 a0001c0001t0002g0260 a0001c0001t0003g0005 a0001c0001t0003g0074 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0004g0011 a0001c0001t0004g0050 a0001c0001t0004g0076 a0001c0001t0004g0101 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0145 a0001c0001t0005g0256 a0001c0001t0005g0258 a0001c0001t0006g0115 a0001c0001t0006g0129 a0001c0001t0006g0255 a0001c0001t0010g0144 a0001c0001t0011g0268 a0001c0001t0026g0269 a0001c0002t0001g0069 a0001c0002t0001g0114 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0002g0060 a0001c0002t0005g0023 a0001c0003t0001g0062 a0001c0003t0001g0222 a0001c0003t0003g0012 a0001c0003t0003g0173 a0001c0003t0003g0182 a0001c0003t0003g0185 a0001c0004t0001g0003 a0001c0004t0004g0210 a0001c0004t0004g0211 a0001c0004t0005g0225 a0001c0013t0001g0127 a0001c0021t0003g0180 a0003c0006t0004g0236 a0003c0006t0004g0243 a0003c0006t0004g0244 a0003c0006t0004g0254	85	203	0.4187	594	c.238 others(613): Show c.2380+3582_2380+3583insCTTAGGGTTCTTCTGCATCCGGCTAG TTACCACCACTTGGAATTTCAAAGTCCTCACTGGATTTATCTTAGGGTTC TTCTGCATCCGGCTAGTTACCACCACTTGGAATTTCAAAGTCCTCACTGG ATTTATCTTAGGGTTCTTCTGCATCCGGCTAGTTACCACCACTTGGAATT TCAAAGTCCTCACTGGATTTATCTTAGGGTTCTTCTGCATCCGGCTAGTT ACCACCACTTGGAATTTCAAAGTCCTCACTGGATTTATCTTAGGGTTCTT CTGCATCCGGCTAGTTACCACCACTTGGAATTTCAAAGTCCTCACTGGAT TTATCTTAGGGTTCTTCTGCATCCGGCTAGTTACCACCACTTGGAATTTC AAAGTCCTCACTGGATTTATCTTAGGGTTCTTCTGCATCCGGCTAGTTAC CACCACTTGGAATTTCAAAGTCCTCACTGGATTTATCTTAGGGTTCTTCT GCATCCGGCTAGTTACCACCACTTGGAATTTCAAAGTCCTCACTGGATTT ATCTTAGGGTTCTTCTGCATCCGGCTAGTTACCACCACTTGGAATTTCAA AGTCCTCACTGGATTTAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EZH2_chr7_148802383_148889291	148869593	C C	CGCTCAAA others(587): Show CGCTCAAAGTGCTGGGATTACTGGCGTGAGCCAATGCACTTGGCCATAAA AGCCCATTCTTCAAGGGCCCACTACCTGAGGGAACCTAGGCAAGTTATTT ACTAATTACTTCATCTGCAAAATGAAGACATCCTCTCTGCAGGCACATAC ATGGTAGATACTCAGTAAACACAAGTTGTTCCATTATTTATTCATCTCAT GCCAGCTAGGGAGAATCTTACCATCACCTGTGATGGTAATCAAACTCTCC AAAGAAATAGTTTGACCTGGGTAACAGAAACCAAGTGCTTAGAATCCTAG TATTTGCACTAAAAAGGACCCTATAGGCAGCAATAGCCTTTTTTTTTTTT TTTTTTTTTTTTTTGGAGACACAGTCTCACTCTGTCACACAGGCTGGAGT GCAGGGGTGCAAACACGGCTCACTGCAGTCTCTACCTTCTGGGCTCAAGC GACCCTCTCACCTCACTCTCCCATGCAGCTGGGACTACAGGCAAATGCCA CCACATGTGGCTAATTTTTTGTAGAAATGGGGCCTCACTTTGTTGTCCAG GCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	368	0.0027	594	c.-8+ others(611): Show c.-8+14570_-8+14571insAGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTCAAGACCAGCCTGGACAACAAAGTGAGGCCCCATTTCTACAAA AAATTAGCCACATGTGGTGGCATTTGCCTGTAGTCCCAGCTGCATGGGAG AGTGAGGTGAGAGGGTCGCTTGAGCCCAGAAGGTAGAGACTGCAGTGAGC CGTGTTTGCACCCCTGCACTCCAGCCTGTGTGACAGAGTGAGACTGTGTC TCCAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTATTGCTGCCTATAGGGT CCTTTTTAGTGCAAATACTAGGATTCTAAGCACTTGGTTTCTGTTACCCA GGTCAAACTATTTCTTTGGAGAGTTTGATTACCATCACAGGTGATGGTAA GATTCTCCCTAGCTGGCATGAGATGAATAAATAATGGAACAACTTGTGTT TACTGAGTATCTACCATGTATGTGCCTGCAGAGAGGATGTCTTCATTTTG CAGATGAAGTAATTAGTAAATAACTTGCCTAGGTTCCCTCAGGTAGTGGG CCCTTGAAGAATGGGCTTTTATGGCCAAGTGCATTGGCTCACGCCAGTAA TCCCAGCACTTTGAGC	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
FMN1_chr15_32760544_33199714	32777984	A A	ATATAATA others(587): Show ATATAATACATGTATTATATATTATGTATAATATATAATACATGTATTAT ATATTATGTATAATATATAATACATGTATTATATATTATGTATAATATAT AATACATGTATTATATATTATGTATAATATATAATACATGTATTATATAT TATGTATAATATATAATACATGTATTATATATTATGTATAATATATAATA CATGTATTATATATTATGTATAATATATAATACATGTATTATATATTATG TATAATATATAATACATGTATTATATATTATGTATAATATATAATACATG TATTATATATTATGTATAATATATAATACATGTATTATATATTATGTATA ATATATAATACATGTATTATATATTATGTATAATATATAATACATGTATT ATATATTATGTATAATATATAATACATGTATTATATATTATGTATAATAT ATAATACATGTATTATATATTATGTATAATATATAATACATGTATTATAT ATTATGTATAATATATAATACATGTATTATATATTATGTATAATATATAA TACATGTATTATATATTATGTATAATACATGTATTATATATTATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0065 a0002c0065	a0002c0065t0012 a0002c0065t0012	a0002c0065t0012g0021 a0002c0065t0012g0021	1	190	0.0053	594	c.413 others(613): Show c.4131-1066_4131-1065insCATAATATATAATACATGTATTATAC ATAATATATAATACATGTATTATATATTATACATAATATATAATACATGT ATTATATATTATACATAATATATAATACATGTATTATATATTATACATAA TATATAATACATGTATTATATATTATACATAATATATAATACATGTATTA TATATTATACATAATATATAATACATGTATTATATATTATACATAATATA TAATACATGTATTATATATTATACATAATATATAATACATGTATTATATA TTATACATAATATATAATACATGTATTATATATTATACATAATATATAAT ACATGTATTATATATTATACATAATATATAATACATGTATTATATATTAT ACATAATATATAATACATGTATTATATATTATACATAATATATAATACAT GTATTATATATTATACATAATATATAATACATGTATTATATATTATACAT AATATATAATACATGTATTATATATTATACATAATATATAATACATGTAT TATATATTATACATAATATATAATACATGTATTATATATTATACATAATA TATAATACATGTATTATA	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
GABRA3_chrX_152161234_152456315	152182768	A A	ACTATATA others(587): Show ACTATATATATAGTGTATATACACTATATATATAGTGTATATACACTATA TATATAGTGTATATACACTATATATACACTATATATGTATATATATACAT ATATAGTGTATATATAGTGTATATATACACTGTATATGTATATATAGTGT ATATATACACTATATATACACTGTATATGTATATATAGTGTATATATACA CTATACACTGTATATGTATATATAGTGTATATATACACTATACACTGTAT ATGTATATATAGTGTATATATACACTATACACTGTATATGTATATATAGT GTATATATACATATACACTGTATATGTATATATAGTGTATATATACACTA TACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATATG TATATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTA TATATACACTATACACTGTATATGTATATATAGTGTATATATACACTATA CACTGTATATGTATATATAGTGTATATATAGTGTATATATACACTATATA GTGTATATATAGTATATATATACTGTATATATATACTATATATGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0095 a0001c0001t0009g0095	1	202	0.0050	594	c.114 others(613): Show c.1143+6961_1143+6962insACATATATAGTATATATATACAGTAT ATATATACTATATATACACTATATAGTGTATATATACACTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAGTG TATATATACACTATATATACATATACAGTGTATAGTGTATATATACACTA TATATACATATACAGTGTATAGTGTATATATACACTATATATACATATAC AGTGTATATGTATATATACACTATATATACATATACAGTGTATAGTGTAT ATATACACTATATATACATATACAGTGTATAGTGTATATATACACTATAT ATACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGT GTATATATAGTGTATATATACACTATATATACATATACAGTGTATATATA CACTATATATACACTATATATGTATATATATACATATATAGTGTATATAT AGTGTATATACACTATATATATAGTGTATATACACTATATATATAGTGTA TATACACTATATATATAG	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(587): Show CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCATCACCATCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	286	0.0035	594	c.666 others(611): Show c.666+1792_666+1793insTCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCATCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77258602	C C	CATGGTGG others(587): Show CATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTCA TAGTGGTGGTGGTGGTGGTCATGGTGGTGATGGTGATGGTGGTGGGTGGT GATGGTGGTGGTGGTCATGTGGTGGTGGTGGTGATGATGGCCATGGTGGT GATGGTAGTGATGGTGGTGATGATGGTGGTGATGATGGTCATGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTCATA GTGGTGGTGGTGGTGGTCATGGTGGTGATGGTGATGGTGGTGGGTGGTGA TGGTGGTGGTGGTCATGTGGTGGTGGTGGTGATGATGGCCATGGTGGTGA TGGTAGTGATGGTGGTGATGATGGTGGTGATGATGGTCATGGTGGTGATG GTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTCATAGT GGTGGTGGTGGTGGTCATGGTGGTGATGGTGATGGTGGTGGGTGGTGATG GTGGTGGTGGTCATGTGGTGGTGGTGGTGATGATGGCCATGGTGGTGATG GTAGTGATGGTGGTGATGATGGTGGTGATGATGGTCATGGTGGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20805.hp1 HG00741.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0147 a0001c0001t0113 a0001c0001t0147	a0001c0001t0113g0116 a0001c0001t0147g0239 a0001c0001t0113g0116 a0001c0001t0147g0239	2	196	0.0102	594	c.732 others(611): Show c.732+2473_732+2474insGTGGTGATGGTGGTGGTGGTCATGTGGT GGTGGTGGTGATGATGGCCATGGTGGTGATGGTAGTGATGGTGGTGATGA TGGTGGTGATGATGGTCATGGTGGTGATGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGGTGGTCATGGT GGTGATGGTGATGGTGGTGGGTGGTGATGGTGGTGGTGGTCATGTGGTGG TGGTGGTGATGATGGCCATGGTGGTGATGGTAGTGATGGTGGTGATGATG GTGGTGATGATGGTCATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGGTGGTCATGGTGG TGATGGTGATGGTGGTGGGTGGTGATGGTGGTGGTGGTCATGTGGTGGTG GTGGTGATGATGGCCATGGTGGTGATGGTAGTGATGGTGGTGATGATGGT GGTGATGATGGTCATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGGTGGTCATGGTGGTG ATGGTGATGGTGGTGG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPIHBP1_chr8_143208218_143222170	143218189	C C	CAACACCA others(587): Show CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCAACACC ATCCCCCACACCACCCCCAACACCACCCAACACCACCCCACACCACCCCC ACACCACCCAACACCGCCCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCAC CCCCAACACCACCCCCACACCACCCCCAACACCACCCCAACACCACCCCA CACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCCACACC ACCCCCAACACCACCCCCAACACCACCCCCCACACCACCCCCAACACCAC CCCCACACCACCCCCAACACCACCCCAACACCACCCCACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	87	0.0115	594	c.26 others(605): Show c.2671_*2672insAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCA ACACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCAACACCA CCCCACACCACCCCCACACCACCCAACACCGCCCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACACCAC CCCAACACCACCCCACACCACCCCCAACACCACCCCCACACCACCCCCAA CACCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCCACAC CACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCAACACCACC CCACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1020		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073913	A A	ATATATAT others(587): Show ATATATATATTTATATTTATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATTTATATATATATAAATATATATATTTATATAT ATATATAAATATATATATTTATATATATATAAATATATATATTTATATTT ATATATATAAATATATATATATATTTATATATATAAATATATATATATAA ATATATATATTTATATATATAAATATATATATAAATATATATATTTATAT ATATAAATATATATATATAAATATATATATATATAAATATATATATTTAT ATATATAAATATATATATATAAATATATATATATATAAATATATATATTT ATATATATAAATATATATATATAAATATATATATATAAATATATATATTT ATATATATAAATATATATTTATATATATAAATATATATATTTTTATATAT AAATATATATATTTATATATAAAAATATATATATTTATATATATAAATAT ATATATTTATATATAAAAATATATATATTTATATATATAAATATATATAT TTATATATATAAATATATATATTTATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0006 a0001c0001t0016g0006	1	204	0.0049	594	c.-97 others(611): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATATAAAT ATATATATTTATATATATATAAATATATATATTTATATATATATAAATAT ATATATTTATATATATATATAAATATATATATTTATATATATATAAATAT ATATATTTATATTTATATATATAAATATATATATATATTTATATATATAA ATATATATATATAAATATATATATTTATATATATAAATATATATATAAAT ATATATATTTATATATATAAATATATATATATAAATATATATATATATAA ATATATATATTTATATATATAAATATATATATATAAATATATATATATAT AAATATATATATTTATATATATAAATATATATATATAAATATATATATAT AAATATATATATTTATATATATAAATATATATTTATATATATAAATATAT ATATTTTTATATATAAATATATATATTTATATATAAAAATATATATATTT ATATATATAAATATATATATTTATATATAAAAATATATATATTTATATAT ATAAATATATATATTTATATATATAAATATATATATTTATATATATATTT ATATATATTTATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP4_chr10_983434_1024932	1015360	T T	TGCGGGGC others(587): Show TGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCT GAGTGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGA GCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTG AGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAG CGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGA GCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGC GGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAG CTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCG GGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGC GCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCT CTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02896.hp2 others(2): Show HG01884.hp1 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0010 a0001c0002t0002g0055 a0001c0002t0002g0056	5	344	0.0145	594	c.160 others(611): Show c.1609-373_1609-372insGCTGAGCCTGGGAGCGGGGCTGGGGTCC TGAGTGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCGCTGAGCCTGGG AGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCT GAGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGA GCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTG AGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAG CGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGA GCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGC GGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAG CGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCG GGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGC TCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015494	T T	TGGACCTG others(587): Show TGGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGA GCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGT GGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAG CTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTG GACCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGC GCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG CTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGG CTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCTCT GAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02717.hp1 HG03486.hp2 HG01081.hp2 HG02717.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002	a0001c0001t0042g0058 a0001c0001t0043g0057 a0001c0002t0002g0054 a0001c0001t0042g0058 a0001c0001t0043g0057 a0001c0002t0002g0054	3	235	0.0128	594	c.160 others(611): Show c.1609-257_1609-256insACCTGGGGTCCTGAGCGCTGAGCCTGGG AGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCT GAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCCTGGGA GTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTG AGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCTCTGAGCCTGGGAG CGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGA GCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGC GGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAG CTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCG GGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGC GCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGG ACCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCT CTGAGCCTGGGAGCGG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP6_chrX_299759_323796	322500	A A	AAAAAAAA others(587): Show AAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTT TGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAA AAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCC TGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCA GGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAA AAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTG TGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGG AGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	149	0.0067	594	c.-37 others(605): Show c.-3714_-3713insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCA TGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCC GAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTTTT TTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTG TCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCT GGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTT TTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3705		chrX	TogoVar
GTPBP6_chrX_299759_323796	322517	G G	GAAAAGAA others(587): Show GAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTG CTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCA GCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAA GAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGACG CTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCA ATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAGAA AGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCG GGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCAT GGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAGAA AAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGG ACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGG GCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	43	0.0233	594	c.-37 others(605): Show c.-3731_-3730insTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCT TACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCC GGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTA CCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCA CCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGG CTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGG TCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCC TCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCACG CCCGGCTTTTCTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCAT ATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTC AGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAA TTTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3722		chrX	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(587): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTACCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGTAGTCCCCACGGTCTCAGCCATCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCTCCGC AGTCCCCACGGTCTCAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0088	1	302	0.0033	594	c.-19 others(605): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTTGGACCGTGGGGACGGCT GGGACCGTGGGGATGACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGC TCCTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGG GGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACG GTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGA GACCGTGGGGACTGCTGAGACCATGGGGATGGCTGAGACCGTGGGGACTA CTGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGG ATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGT GGGGACGGCTGAGACCGTGGGTACTGCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCT GAGACCATGGGGATAGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGAC AGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar
IDI2_chr10_1013910_1030859	1015360	T T	TGCGGGGC others(587): Show TGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCT GAGTGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGA GCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTG AGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAG CGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGA GCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGC GGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAG CTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCG GGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGC GCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCT CTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02896.hp1 others(1): Show HG01884.hp1 HG02615.hp1 HG02896.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0048 a0001c0002t0002g0066 a0001c0002t0002g0004 a0001c0002t0002g0048 a0001c0002t0002g0066	4	405	0.0099	594	c.41 others(605): Show c.4156_*4157insTCCCAGGCTCAGAGCTCAGGACCCCAGCCCCGCT CCCAGGCTCAGAGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGAGCTCA GGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTC CCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAG GACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCC CAGGCTCAGAGCTCAGGACCCCAGGTCCACTCCCAGGCTCAGCGCTCAGG ACCCCAGCCCCGCTCCCAGGCTCAGAGCTCAGGACCCCAGCCCCACTCCC AGGCTCAGCGCTCAGGACCCCAGGTCCACTCCCAGGCTCAGCGCTCAGGA CCCCAGCCCCGCTCCCAGGCTCAGAGCTCAGGACCCCAGCCCCACTCCCA GGCTCAGCGCTCAGGACCCCAGGTCCACTCCCAGGCTCAGCGCTCAGGAC CCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCACTCCCAG GCTCAGCACTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACC CCAGCCCCGC	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		3549		chr10	TogoVar
IDI2_chr10_1013910_1030859	1015494	T T	TGGACCTG others(587): Show TGGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGA GCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGT GGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAG CTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTG GACCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGC GCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG CTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGG CTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCTCT GAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02717.hp2 HG03486.hp1 HG01081.hp1 HG02717.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0010 a0001c0001t0002 a0001c0002t0002 a0001c0002t0010	a0001c0001t0002g0071 a0001c0002t0002g0004 a0001c0002t0010g0056 a0001c0001t0002g0071 a0001c0002t0002g0004 a0001c0002t0010g0056	3	287	0.0105	594	c.40 others(605): Show c.4022_*4023insGCTCCCAGGCTCAGAGCTCAGGACCCCAGCCCCG CTCCCAGGCTCAGAGCTCAGGACCCCAGGTCCACTCCCAGGCTCAGCGCT CAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGC TCCCAGGCTCAGAGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGAGCTC AGGACCCCAGCCCCGCTCCCAGGCTCAGAGCTCAGGACCCCAGCCCCGCT CCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCA GGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTC CCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGAGCTCAG GACCCCAGGTCCACTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCC CAGGCTCAGAGCTCAGGACCCCAGCCCCACTCCCAGGCTCAGCGCTCAGG ACCCCAGGTCCACTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCC AGGCTCAGAGCTCAGGACCCCAGCCCCACTCCCAGGCTCAGCGCTCAGGA CCCCAGGTCC	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		3415		chr10	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(587): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCT CCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02630.hp2 HG01255.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0006 a0001c0001t0001g0023	2	12	0.1667	594	c.10- others(611): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCTCCCCCCTCCTCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCC CTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF25_chr6_167992671_168050091	167997188	G G	GCGGGGGA others(587): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0224 a0003c0004t0001g0224	1	276	0.0036	594	c.-22 others(605): Show c.-2281_-2280insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCA GAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		482		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(587): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	77	0.0130	594	c.-27 others(605): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(587): Show TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATCCATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0235 a0004c0011t0002g0235	1	207	0.0048	594	c.126 others(611): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATGGATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(587): Show ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTT ATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTT ATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATTTATATATATAGTTATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATTTATATATAT TTATATATGTATTTATATATATTTATATATATTTATATGTATTTATATAT ATTTATATATATTTATATATATATATATAAATATATTTATATATATAAAT ATAAATATTTATATATATTTATATATATTTATATATATATTTATGTATAT TTATATATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	80	0.0125	594	c.125 others(611): Show c.125+9673_125+9674insATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTTTAT ATATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTAT ATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTT ATGTATAGTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATAT ATAGTTATATATATATATTTTTATATATATAGTTATATATATATTTATAT ATATAGTTATATATTTATATATATTTATATATATTTATATATATATTTAT ATATTTATTTATATATATTTATATATGTATTTATATATATTTATATATAT TTATATGTATTTATATATATTTATATATATTTATATATATATATATAAAT ATATTTATATATATAAATATAAATATTTATATATATTTATATATATTTAT ATATATATTTATGTATATTTATATATATTTATATATATATTTATGTATAT TTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(587): Show ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTT ATGTATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTT ATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATTTATATATATAGTTATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATTTATATATAT TTATATATGTATTTATATATATTTATATATATTTATATGTATTTATATAT ATTTATATATATTTATATATATATATATAAATATATTTATATATATAAAT ATAAATATTTATATATATTTATATATATTTATATATATATTTATGTATAT TTATATATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0162 a0005c0005t0001g0162	1	80	0.0125	594	c.125 others(611): Show c.125+9673_125+9674insATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTTTAT ATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTTAT ATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTT ATGTATAGTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATAT ATAGTTATATATATATATTTTTATATATATAGTTATATATATATTTATAT ATATAGTTATATATTTATATATATTTATATATATTTATATATATATTTAT ATATTTATTTATATATATTTATATATGTATTTATATATATTTATATATAT TTATATGTATTTATATATATTTATATATATTTATATATATATATATAAAT ATATTTATATATATAAATATAAATATTTATATATATTTATATATATTTAT ATATATATTTATGTATATTTATATATATTTATATATATATTTATGTATAT TTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859688	C C	CGGGTGTG others(587): Show CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGTGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGG GACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACG GGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAG TGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTG GGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	148	0.0068	594	c.153 others(613): Show c.1530-4983_1530-4982insACCCCGAGACACCACTCACACCCACC CCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGT GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCA CACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTCGCACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCGCACCCCTC CCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGA GACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTCACACCCGTCACGTGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACACCCGTCCC GAGACACCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MCCC1_chr3_183010218_183104496	183017819	T T	TACTGGTC others(587): Show TACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGT ACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGG CCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCA CTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGC CTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTAC TCGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTG GTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTA CAGACCAAATGCACTAGTCAAATCAGAGGCCTACAGGTCAAATGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	27	0.0370	594	c.197 others(611): Show c.1978-483_1978-482insGCATTTGACCTGTAGGCCTCTGATTTGA CTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTG TAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAG GCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAG TGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGG CCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGC CTCTGATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MEGF6_chr1_3482951_3616508	3583342	G G	GCAGCCAC others(587): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0067 a0067	a0067c0058 a0067c0058	a0067c0058t0001 a0067c0058t0001	a0067c0058t0001g0129 a0067c0058t0001g0129	1	193	0.0052	594	c.377 others(611): Show c.377-3414_377-3413insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583630	G G	GCAGCCAC others(587): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCAC CAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCA GACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0030 a0030	a0030c0028 a0030c0028	a0030c0028t0001 a0030c0028t0001	a0030c0028t0001g0196 a0030c0028t0001g0196	1	279	0.0036	594	c.377 others(611): Show c.377-3702_377-3701insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583630	G G	GCAGCCAC others(587): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0046 a0015c0013t0046	a0015c0013t0046g0191 a0015c0013t0046g0191	1	279	0.0036	594	c.377 others(611): Show c.377-3702_377-3701insTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583885	C C	CCCGCAGC others(587): Show CCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAG ACAACGCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCA CCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCA GCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACG CGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGAC AACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCACAGCCACC AGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGC CACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCG CAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAA CCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAG ACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCA CCAGACAACGCGCAGCCACCAGACAACGCACAGCCACCAGACAAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	140	0.0071	594	c.377 others(611): Show c.377-3957_377-3956insATTGTCTGGTGGCTGTGCGTTGTCTGGT GGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTC TGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGT TGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGC GCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGG CTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTG GTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTG TCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGG GTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCT GTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGT GGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTC TGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGT TGTCTGGTGGCTGCGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583885	C C	CCCGCAGC others(587): Show CCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAG ACAACGCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCA CCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCA GCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACG CGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGAC AACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCACAGCCACC AGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGC CACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCG CAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAA CCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAG ACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCA CCAGACAACGCGCAGCCACCAGACAACGCACAGCCACCAGACAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0208 a0003c0003t0001g0208	1	140	0.0071	594	c.377 others(611): Show c.377-3957_377-3956insATTGTCTGGTGGCTGTGCGTTGTCTGGT GGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTC TGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGT TGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGC GCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGG CTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTG GTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTG TCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGG GTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCT GTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGT GGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTC TGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGT TGTCTGGTGGCTGCGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17877171	G G	GGGAGGTT others(587): Show GGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAA GTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGAT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTT AGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0242 a0004c0007t0005g0242	1	214	0.0047	594	c.224 others(613): Show c.2242-5149_2242-5148insATAACCTCCATAACCTCCATAACCTC CCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACTTCCCTAACCTCC ATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAA CTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCC CTCACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(587): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCCCCCT CCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCTTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCT CGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0035 a0004c0005t0001g0035	1	4	0.2500	594	c.114 others(613): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCCTCCCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCT CGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(587): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	196	0.0051	594	c.-28 others(605): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(587): Show CTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATACC GTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGT ATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTAT ATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTAT ATATACACAGTATGTATACTGCATACAGTATGTATACTGTATACATACTG CATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTAT ACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACTATACAGTATGTATACTGTATATATACACAATAC AGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATA CACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTG TATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATAC TGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0130 a0001c0004t0004g0130	1	118	0.0085	594	c.-75 others(613): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACA GTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTA TATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGT ATAGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATA CATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATGCA GTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACATACAGTATACATACATACA GTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NRDE2_chr14_90262860_90336941	90300865	G G	GGGGGAGG others(587): Show GGGGGAGGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGAGAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGAG GATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGG GGAGGGAGAAGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGATGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGAGGGGGAGGGGGG AGGGAGAAGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGG GGAGGAGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAG AAGGGGGAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGG AAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGG GAGGGGAGGAGGGGGGAGGGAGAGGGAGGGGAGGAAGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0248 a0001c0004t0001g0248	1	340	0.0029	594	c.154 others(611): Show c.1545+373_1545+374insTTCCCCTTCTTCCTCCCCTCCCTCTCCC TCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTCCCCC TCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCCCTCC CCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCT CCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCT CCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCATC CCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCATCCTCCTCCTCCCTCCCCCTTCTCCGTCCTCCTTC CTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCCTCCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(587): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGAT GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGGGAGGGGAGGGG GGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGAGGGGAGGGGGGAGGGAG AGGGGAGGGGGGAGGGAGAGGGGAGGGGGAGGGGATGGGGGAGGGAGAAG GGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGG GGGAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGG GGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGG AGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGG GGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0265 a0001c0003t0035g0265	1	142	0.0070	594	c.154 others(611): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCCCTCCCCTC TCCCTCCCCCCTCCCCTCTCCCTCCCCCCTCCCCTCTCCCTCCCCCCTCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCATCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCC CTTCTCCGTCCTCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCC CCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(587): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0065 a0065	a0065c0120 a0065c0120	a0065c0120t0001 a0065c0120t0001	a0065c0120t0001g0170 a0065c0120t0001g0170	1	148	0.0068	594	c.292 others(609): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PATJ_chr1_61737480_62168915	62137545	T T	TGGAGGGG others(587): Show TGGAGGGGGGAACACAGAGTGAGGGGGCACAGCAGTCTGAGGGGGAAATG CCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGA AATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGG GGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCT GAGAGGGAAATGTCTCCGGAGGGGGAAACACAGAGTGAGGGGGGACAGAG GCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGAC AGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGG GGACAGAGGCCTGAGGAGGAAATGCCTCTGGAGGGGGGAACACAGAGTGA GGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGA GTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCCGGAGGGGGAAACA CAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGA AACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0072 a0005c0072	a0005c0072t0024 a0005c0072t0024	a0005c0072t0024g0095 a0005c0072t0024g0095	1	108	0.0093	594	c.527 others(613): Show c.5271+8626_5271+8627insCACAGCAGTCTGAGGGGGAAATGCCT CCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAAT GCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGG AAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAG AGGGAAATGTCTCCGGAGGGGGAAACACAGAGTGAGGGGGGACAGAGGCC TGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGA GGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGA CAGAGGCCTGAGGAGGAAATGCCTCTGGAGGGGGGAACACAGAGTGAGGG GGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTG AGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCCGGAGGGGGAAACACAG AGTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAAC ACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGG GAACACAGAGTGAGGGGG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GACACAGA others(587): Show GACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGG GGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCG GAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCC TCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAA TGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGG GAAATGCCTCCGGAGGGGGAAACACAGAGTGAGGGGGGACAGAGGCCTGA GAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGC CTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAG AGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGG ACAGAGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGAACACAGAGTGAGG GGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGT GAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp1 HG02647.hp1 HG02922.hp1	a0001 a0045 a0001 a0045	a0001c0047 a0045c0111 a0001c0047 a0045c0111	a0001c0047t0023 a0045c0111t0017 a0001c0047t0023 a0045c0111t0017	a0001c0047t0023g0118 a0045c0111t0017g0025 a0001c0047t0023g0118 a0045c0111t0017g0025	2	5	0.4000	594	c.527 others(613): Show c.5271+8702_5271+8703insGCCTCCGGAGGGGGGAACACAGAGTG AGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAG AGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAAC ACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGG GAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAG GGGGAAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCT GGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGT CTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAA ATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGG GGAAATGCCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTG AGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGG CCTGAGGGGGAAATGCCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACA GAGGCCTGAGGGGGAAAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCBP3_chr21_45638725_45947450	45923788	A A	ATAGAAAC others(587): Show ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCAAACACTGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG GTTGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	281	0.0036	594	c.718 others(611): Show c.718-6088_718-6087insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCAAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGGTTGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45923820	C C	CGAGGAGA others(587): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCAGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATTGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0280 a0001c0001t0011g0281 a0001c0001t0011g0280 a0001c0001t0011g0281	2	256	0.0078	594	c.718 others(611): Show c.718-6088_718-6087insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCAGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG TGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45923820	C C	CGAGGAGA others(587): Show CGAGGAGATGTGAACACTGGGAACAGTTGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	255	0.0039	594	c.718 others(611): Show c.718-6088_718-6087insTGAACACTGGGAACAGTTGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG TGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(587): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	168	0.0060	594	c.718 others(611): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(587): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	2	169	0.0118	594	c.718 others(611): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(587): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01081.hp2 others(17): Show HG00323.hp2 HG00639.hp2 HG01081.hp2 HG01168.hp1 HG01257.hp1 HG01258.hp2 HG01975.hp1 HG02165.hp2 HG02647.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03669.hp2 HG03710.hp2 HG04184.hp2 HG04199.hp2 NA18946.hp2 NA18983.hp2 NA19065.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 a0001c0001t0002 a0001c0001t0005 a0001c0004t0002	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0046 others(17): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0079 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0267 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0005g0285 a0001c0004t0002g0088	20	187	0.1070	594	c.718 others(611): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(587): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATTGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	168	0.0060	594	c.718 others(611): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATTGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924094	T T	TGAACACT others(587): Show TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	186	0.0054	594	c.718 others(611): Show c.718-5817_718-5816insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924497	C C	CGGGAACA others(587): Show CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGTGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCAAACACCGGGAACAGTCGAGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGG AACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0074 a0001c0002t0004g0074	1	244	0.0041	594	c.718 others(611): Show c.718-5409_718-5408insCGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACA GTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGAT GCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACACCGGGAACAGT CGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACTGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924546	T T	TGAGGAGA others(587): Show TGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGAT AGAAACAACACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAG GAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAACACACGTAAG ATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	201	0.0050	594	c.718 others(611): Show c.718-5362_718-5361insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAACACACGTAAGATCGGGTGTGCGTGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAAC AACACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATG TGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924556	C C	TGAACACC others(587): Show TGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACATAAGATCGGGTG TGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGC GTGGATAGAAACAACACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	241	0.0041	594	c.718 others(611): Show c.718-5362_718-5361insTGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACATAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAACACACGTAAGATCG GGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATG TGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17			chr21	TogoVar

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