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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SACS_chr13_23323830_23438702	23368901	ATGTTAGC others(1152): Show ATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTT GGCCTCCCAAAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCTGGCCTC AAGATTTTTAACTGAACTACAAATAAAGTCTCAAAAAATGTTCAAAAATA TAATAACTATTAATTCAAAAACAAGAAGCATGGTGCAGTGGGGAGGAGTG TTGATATTTTCCAAAGCAAATAAAATAAATGATGTTATTTTGTGGCTGCT TTGCCATTAAATAACAAGCCAGAGACAGAGGTGCCTATTATCACATTCTT AATATTCTCAAATTCAACCAGTGTTCTGATTGTTCTGAAATTCAGCAGTC ACTGTCTCAATGGCTGTCCACTTCAAGTACCTTCAAGCCTTGCCTAAACT AGATATTCTTAGACCAACTGACCAGGTCACCTTCAGACAAGTGACAGGGC TGTAGGAAGAACAAGAAAATGGGAAGTAATGCCTCAAATACACAGCATTT CAAAAATCTGTTTATCAGTATAAAGAAACCTCTGCTTAAAAAAGCAAAAT TGTCACTATAAATTTATTTGCGTCATTTTGGTACAACCACATACTGAGAC CAAGCTCAAACAAGACTCTGTTTCCACAGACTTCTATCCCACCCATTCTT TTTTTTTTTTTTCAGACGGACTCTCCTTCTATTGCTCAGGCTGGAGTGCA GTGGCGCAATCTCAGCTCACTGCAAGCTCCTTCTCCCAGGTTCACGCCAT TCCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCA TACCCAGCTAATTTTTTGTATTTTTTAGTAGAGATGGGGTTTTACCGTGT TAGCCAGGATGGTCTGGATCTCCTGAGCTTGTGATCCGCCCTCCACAGCC TCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCATGCCCAGCCTATCCC ACTCACACTTCTTTTTTTTTTTTTTTGAGACGGAGTCTTGCACTGTCTCC TGGGCTGGAGTGCAATGGAGCGATCTCAGCTCACTGCAACCTCTGCCTTC CAGGTTCAAGCGATTCTTCTGCCTCAGCTTCCCAAGTGGCTGGGAGTACA GGTGCGTGCCACTACACCTGGCTAATTTTTTCTATTTTTAGTAGAGACAG GGTTTCACTG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0160 a0004c0007t0001g0160	1	359	0.0028	-1159	c.259 others(16): Show c.259+1018_260-415del		SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	4/9						chr13	TogoVar
SLC15A5_chr12_16183485_16282685	16267189	TAGTGTAC others(1152): Show TAGTGTACCATTTAAATATTCCAGAGAAAGTATTTTATTCGACATTGATC AATGTTCAGATAATTTTCCAGGGGATTTGTGACTCTTCAGTGGGATAAAA CTGAACTGTTTAGAGGAGTCAGTGAAATAAAATACTTGGGCACCGATTTC ATGGTGGATGGCTGTTGTCAATCATTGCTTCTTTTAGCATAACCATTGGC CACTGAAGTACTTCAAAGAATATTCTGGCAGCCAAATATTTGGAGAAAGA AGGGGAAAATAGAAACTTTAGAGTTCCTTTTTATCTGTAAATACATATTT TTTTTTCCAGCAGAGCTGTTAAAGACAATTTAATAAAATATTGATTTTGG TAACTAGACATTAGGATTGAAGAAGTTAAGTTTTTAATTTAAAAATTTGG GGGACTGCTTTACTCTCTCTCCCAAGCTCTCCCTACCTCTCTTACTCTTT AACCTGTTTCATTCCCTTTCTGTCCTTTCCCATTCCCTCTCCCTCCTTTC CCATTCCCTCATTCTTTTGCCAACAACCCCCGCCCACCCCCCACCTTTTT TTTTTTTTTTTTTTTTTTGAGATAGGGTCTCACTCTGTCACCCAGACTAG ACTGGTGCAGGGTGTTCACAGCTCACTGTAATCTCAGCCTCCTGAGCTCA AGCGATTCTTCCGCTTCAGCCTCTCAAGTACATGTGACTACAGGTTCACC CCACCATGCCTGGGTAATTAAAAAAAAATGTTTTTTTGGTAGAGATGGGG TTACTCAGGCTTGTCTCGAACCCCTGGCCTTGAGTGATCCTCCTGCCTAG GCCTCCCAGAGCCCAGGGATTCAGGTGTGAGTCACTGTGCCTGGCCAACA CCCAAATTTTAACAGTTGTCCTGACTCATGTACCTTTCAAGCTTAAAAGA GAACATGCGCCCGGCTCTGTGGCTCATGCCTGTAATCCTGGCACTTTGGA GGCCAACGTGGGCAGATTGCCTGAGCTCAGGGATTTGAGACCAGCCTGGG CAACATGGTGAAACCCCATCTCTACTAAAATGCAAAAAAATTAGCTGGCG TGGTGGTATGAACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATTGCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTCAGATCGCAAAGG TAAAGAAGGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp1 others(149): Show HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0010 a0012 a0013 a0014 a0017 a0019 a0023	a0001c0001 a0001c0032 a0001c0033 others(13): Show a0001c0001 a0001c0032 a0001c0033 a0002c0002 a0004c0004 a0004c0011 a0004c0026 a0004c0037 a0010c0018 a0012c0030 a0012c0031 a0013c0019 a0014c0013 a0017c0021 a0019c0034 a0023c0027	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(21): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0032t0002 a0001c0033t0002 a0002c0002t0006 a0002c0002t0008 a0004c0004t0001 a0004c0004t0007 a0004c0011t0002 a0004c0011t0004 a0004c0026t0002 a0004c0037t0007 a0010c0018t0004 a0012c0030t0001 a0012c0031t0004 a0013c0019t0001 a0014c0013t0001 a0017c0021t0001 a0019c0034t0001 a0023c0027t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(143): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0262 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0007g0001 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0212 a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0001t0012g0092 a0001c0001t0016g0090 a0001c0001t0017g0028 a0001c0032t0002g0085 a0001c0033t0002g0073 a0002c0002t0006g0106 a0002c0002t0008g0004 a0004c0004t0001g0010 a0004c0004t0001g0058 a0004c0004t0001g0065 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0235 a0004c0004t0001g0236 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0268 a0004c0004t0001g0272 a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0284 a0004c0004t0001g0285 a0004c0004t0001g0286 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0004t0007g0242 a0004c0011t0002g0059 a0004c0011t0002g0279 a0004c0011t0004g0273 a0004c0026t0002g0283 a0004c0037t0007g0312 a0010c0018t0004g0062 a0010c0018t0004g0068 a0012c0030t0001g0208 a0012c0031t0004g0067 a0013c0019t0001g0101 a0013c0019t0001g0102 a0014c0013t0001g0011 a0014c0013t0001g0012 a0017c0021t0001g0014 a0019c0034t0001g0064 a0023c0027t0001g0022	152	322	0.4721	-1159	c.584 others(17): Show c.584+4213_584+5371del		SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	2/8						chr12	TogoVar
VAV2_chr9_133756894_133997324	133827245	CTGAGCGG others(1152): Show CTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGC ATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCC AGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTG CTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCT GCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGC CCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCC ACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCAC TGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTG AGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGG GCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGC TGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTG ACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGAC CACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG02257.hp1 others(1): Show HG00099.hp2 HG00140.hp1 HG02257.hp1 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0005 a0001c0002 a0002c0001 a0002c0005	a0001c0002t0014 a0002c0001t0001 a0002c0001t0015 others(1): Show a0001c0002t0014 a0002c0001t0001 a0002c0001t0015 a0002c0005t0004	a0001c0002t0014g0013 a0002c0001t0001g0195 a0002c0001t0015g0086 others(1): Show a0001c0002t0014g0013 a0002c0001t0001g0195 a0002c0001t0015g0086 a0002c0005t0004g0151	4	133	0.0301	-1159	c.449 others(17): Show c.449+5868_449+7026del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
CNN2_chr19_1021608_1044065	1033710	GAGCGTGG others(1151): Show GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGT GTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGG GTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCTGGTG TAGACGGTA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0135 a0001c0004t0003g0135	1	388	0.0026	-1158	c.390 others(17): Show c.390+1047_391-1230del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
RBM25_chr14_73053534_73128899	73079054	ACTTTTTT others(1151): Show ACTTTTTTTACCTTTTTAAGATTTTATCTTGATGATACATGTACATTGTT AAGTGAAATAATGCTGAATGATTGTATAATAAAATAAGGCCAGGTGCGGT GTCTCACACCTGTAATCCCGGCACTTTGCGGGGCCAAGGTGAGTGGATCA CTTGAGGTCAGGAGTTTGAGACCAGCCTGATCAACATGGTGAAACCCCAT CTCTACTAAAAATACAAAAATTAACCAGGCGTGGTTGTCGGTGCCTGCAA TCCCAACTACGCGGGAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGG CGGAGGTTGCAGTGAGTTGAGATGGCGCCACTGCACTCCAGCCTGGGTGA CAATGTTAGACTTTGTCTCACACACAAAAAAAGGAGTTTGGAAGAATGAC TATATTCTGCACTGAGAGGATCTGCAAAGATGTCATTCTTCGTCTGTATC CCAGAATCTTGTGTAGGTTCTCTGTAAGGACAGGGCCAGGGTTATCTCAA CCTGTGGTTCACCTCATGAGTAGTTCAGTATGAGTCCTGCAATCTTGCCA TCCTCTGGAAATATTGTTGCCTGCTCTCCTTATGCCCCTCTGAGATGCTG GGCAATTACTTTACATCATTCATGATTCTTGTTCCTCAACTATTCATATT TAAGAAATTCCTGTTCTTTTAGAAGACTGGATCTCCTGGGCACTCTGTAA GTTTTAATTAACTGGTTTGAGGATGTTTTGGGTTTCTCAGTTTTGTTTTC TTCTATTACTTCCATGGGATTTTTGGTAATTTCAGTCTGAAGCCTGACTC CATTTTTATTCTTGAGTTTTCTCCTGGGCTTCTTTTCACTGTAGCCACAA GGCCTAATCTGAGGTCTGCAGAGAACTAGCACTTACTCTGCTCTAATGGA ATTCAGGAAAGTCAGAAGGTACTGGAGTATAGAAATGTGTTTGCTCCTGT CTGCTTCTGGAAGTCTCTGTTTTGCTATGTTATTACTGCTAATGTTTTCT CCCTAGGTGTATGTGAAAAGATTCTCATCACAAATTCTCATAGAAGTGCC GTTTCTGAGTCTTAGGGCATGCTTATCTGCAGCTTTACAAGATAATTCCA CACCAATTTATTTATATTTACTGCAGCAGTGTCATGTCCGAGTTTCTATT CTTACACAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01261.hp2 HG01168.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0016 a0001c0001t0008g0012 a0001c0001t0008g0016	2	386	0.0052	-1158	c.324 others(17): Show c.324+1527_324+2684del		RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
AQP8_chr16_25211947_25233932	25218721	GATACAAA others(1150): Show GATACAAAAATTAGCTGGGCGTGGGGGCAGGCACCTGTGGTCCCAGCTAC TTCGGAGGCTGAGGCAGGAGAATTGCTTGAACTGGGAGGGAGAGGTTGCA GTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGAC TCCATCTCCAAAAAACAAACAAACAAACAAACAAACAAAAAACAAACCAC ATCTCTTTAGACGTCCAAGGGAGGCTGCAAGTGAAACAAAAAGTACATGA TCTTCCCTTTGGACGGATCTGAGATTGAAGGCAACCTTTATCACTTCTTA GCAGGGTGACCACAGCAAGTTGCTGAAGCCTCTGTGTGCAGTGGTATAAA TATGAGTAATAATAATAGCTGATGTTTTTTGAATGCTAACTACATAGATA CTACTATGGGCTGTACAAATATTAATTCTTAATATCTTTGCAATAGCTTT ATCAGGCAGAGATCATTGAGGCACAGAGAGGTTATGTAACTTTGCCAATG CCACACAGCTCTTCAGTGGCAGAGTTGAGCTTTGAACCCAGGCCAGCTGG CTGGAAAGACCATCTCTTTGGCACTGCAAATACTGCCTCTCTGTTTGGCT TTTTTGACAAATATTTATTCAGCACCTATTGCGTGCCAGACACTGACTTT GAGGTTGTTCACTGGATCCAGGATAAGCTATGTATGTAAGTTATAAGCAC CCAGCACAGCCCCTGGCACACAGTAAGTGTCAGAGAAATATATGCTGAGT GAACAATGAATGAATGAATGAATGTGTCTTGATTGTTTTATTGCTAATGA GTGTAAACCAGGAAATGTGTGGTTTTCGTCACCTGGCCCTCCTGATAGAG CCATGCTCTGGGTGACAGTTTCTCTCCCCTTTGGGGCTCCCCTGGGAAGC CGCCTCACCCTGACTTCATCTGTGTATCTCAGCAGAGCCCAGGCTAAGCT ACTTGAGGCCAAGTAGGCCTGGCTGCCCCTCTTCCCAACCTGTGGAGTCT GAGCACTGGCTGGTGCTTTCAAACCATGCATGGAGGTCAGGCGCAGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATCACCT GAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTC TACCAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp2 NA19240.hp1 HG01109.hp1 HG02886.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0190 a0001c0001t0003g0189 a0001c0001t0003g0198 a0001c0001t0001g0190 a0001c0001t0003g0189 a0001c0001t0003g0198	3	418	0.0072	-1157	c.260 others(17): Show c.260+1291_261-1565del		AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
MAN2B1_chr19_12641512_12671742	12642523	TCAAAGAT others(1150): Show TCAAAGATTCCCATCCCGCAGTAATGATCTCAGGCTCCCCCGGATCCCGC AGTAACTATCTCAGGAGAGTCCATTATGCAGCACCGCGTGTGGCCGGCCG AGAAGACCTTGCCATCTCCTTCGGTCTCCTGGAACACTGTCCTGGGCTCT CCGGCCGGATCTTGTCCCACACACGCGACAACCGAGCTCCGGGGACGATA TCAGAGTGATCACAAAGTGGCGCCCGACCACCGGTGGGACTGCGCCGGAC CTGGACCTTCCCCTACCGGACCAGATGCCACCTGGTCAGGGTCTCACTCC AACTTGTGTCTCGGCCCAAAGCAGTCAGAGGGTAGCCTGCTGGGCCCGGG CCACCCTCCACGGATTCCCTGAATGGCCAGGGCTGATTCCCAGCCTCTAC AGGCTGGCTTAGAAAAATTAGGGAGAGGCTGGGCATGGCAGCTCAAGCAA GTCATCCCAACACTTTGGGAGGCTGAGACGGGGGGATTGCTTGAGCCCAG GATTCTGAGGTTGCAGTGTGTTTTGATCAGGCCAGCACACTCCAACATGG GTGATAGAGGGAGTCCCAGTCTCCCTTCCCGGGTTCATGCCAGTCTCCTG CCTCGGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCATGACCAG CTAATTTTTTGTTGTTGTTTTTTTTTTTTTTGTATTTTTTAGGTGGACAG GAAGTAGAATTTATTGGTGAGTATTAAGAGGGGGGCAGCACATTGGAAGC CCTCATGAGTGCAGGGCCCACCACTTGTCCAGAGGGCCACGATTGGGGAT ATACTTGACCCCACAGCCATCTGGGATGAGCCGCTTTTCAGCCACCATGT CTTCAAATTCATCAGCATTGAACTTGGTGAAGCCCCACTTCTTTGAGATG TGGATCTTCTGGCGGCCAGGAAACTTGAACTTGGCCCTGCGCAGGGCCTC AATCACACGCTCCTTGTTCTGCAGCTTGGTGCGGATGGACATGATAACTT GGCCAATGTGAACCCTGGCCACAGTGCCCTGGGGCTTTCCAAAGGCACCT CGCATTCCTGTTTGGAGCCTGTCAGCCCCAGCACAGGACGACATCTTGTT GATGCGGATGACGTGGAAGGGGTGGAGCCGCACCCGGATATGGAAGCCAT CTTTGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01070.hp2 others(24): Show HG00323.hp2 HG00544.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02071.hp2 HG02273.hp1 HG02300.hp2 HG02698.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18950.hp1 NA19000.hp2 NA19067.hp2	a0001 a0010 a0016 others(1): Show a0001 a0010 a0016 a0017	a0001c0001 a0001c0029 a0001c0030 others(3): Show a0001c0001 a0001c0029 a0001c0030 a0010c0009 a0016c0032 a0017c0028	a0001c0001t0001 a0001c0029t0001 a0001c0030t0001 others(3): Show a0001c0001t0001 a0001c0029t0001 a0001c0030t0001 a0010c0009t0001 a0016c0032t0001 a0017c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0029t0001g0118 a0001c0030t0001g0123 a0010c0009t0001g0007 a0010c0009t0001g0132 a0010c0009t0001g0144 a0016c0032t0001g0166 a0017c0028t0001g0052	27	378	0.0714	-1157	c.29 others(11): Show c.2940_*4096del		MAN2B1	ENSG00000104774.13	transcript	ENST00000456935.7	protein_coding					3988		chr19	TogoVar
RBM25_chr14_73053534_73128899	73079056	TTTTTTTA others(1150): Show TTTTTTTACCTTTTTAAGATTTTATCTTGATGATACATGTACATTGTTAA GTGAAATAATGCTGAATGATTGTATAATAAAATAAGGCCAGGTGCGGTGT CTCACACCTGTAATCCCGGCACTTTGCGGGGCCAAGGTGAGTGGATCACT TGAGGTCAGGAGTTTGAGACCAGCCTGATCAACATGGTGAAACCCCATCT CTACTAAAAATACAAAAATTAACCAGGCGTGGTTGTCGGTGCCTGCAATC CCAACTACGCGGGAGGCTGAGGCAGGAGAATCATTTGAACCTGGGAGGCG GAGGTTGCAGTGAGTTGAGATGGCGCCACTGCACTCCAGCCTGGGTGACA ATGTTAGACTTTGTCTCACACACAAAAAAAGGAGTTTGGAAGAATGACTA TATTCTGCACTGAGAGGATCTGCAAAGATGTCATTCTTCGTCTGTATCCC AGAATCTTGTGTAGGTTCTCTGTAAGGACAGGGCCAGGGTTATCTCAACC TGTGGTTCACCTCATGAGTAGTTCAGTATGAGTCCTGCAATCTTGCCATC CTCTGGAAATATTGTTGCCTGCTCTCCTTATGCCCCTCTGAGATGCTGGG CAATTACTTTACATCATTCATGATTCTTGTTCCTCAACTATTCATATTTA AGAAATTCCTGTTCTTTTAGAAGACTGGATCTCCTGGGCACTCTGTAAGT TTTAATTAACTGGTTTGAGGATGTTTTGGGTTTCTCAGTTTTGTTTTCTT CTATTACTTCCATGGGATTTTTGGTAATTTCAGTCTGAAGCCTGACTCCA TTTTTATTCTTGAGTTTTCTCCTGGGCTTCTTTTCACTGTAGCCACAAGG CCTAATCTGAGGTCTGCAGAGAACTAGCACTTACTCTGCTCTAATGGAAT TCAGGAAAGTCAGAAGGTACTGGAGTATAGAAATGTGTTTGCTCCTGTCT GCTTCTGGAAGTCTCTGTTTTGCTATGTTATTACTGCTAATGTTTTCTCC CTAGGTGTATGTGAAAAGATTCTCATCACAAATTCTCATAGAAGTGCCGT TTCTGAGTCTTAGGGCATGCTTATCTGCAGCTTTACAAGATAATTCCACA CCAATTTATTTATATTTACTGCAGCAGTGTCATGTCCGAGTTTCTATTCT TACACATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02735.hp1 HG03831.hp2 others(3): Show HG00323.hp1 HG02735.hp1 HG03831.hp2 NA18944.hp2 NA19065.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0013 a0001c0001t0008g0014 others(3): Show a0001c0001t0008g0011 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0017 a0001c0001t0008g0018	6	386	0.0155	-1157	c.324 others(17): Show c.324+1527_324+2683del		RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC15A5_chr12_16183485_16282685	16267192	TGTACCAT others(1150): Show TGTACCATTTAAATATTCCAGAGAAAGTATTTTATTCGACATTGATCAAT GTTCAGATAATTTTCCAGGGGATTTGTGACTCTTCAGTGGGATAAAACTG AACTGTTTAGAGGAGTCAGTGAAATAAAATACTTGGGCACCGATTTCATG GTGGATGGCTGTTGTCAATCATTGCTTCTTTTAGCATAACCATTGGCCAC TGAAGTACTTCAAAGAATATTCTGGCAGCCAAATATTTGGAGAAAGAAGG GGAAAATAGAAACTTTAGAGTTCCTTTTTATCTGTAAATACATATTTTTT TTTCCAGCAGAGCTGTTAAAGACAATTTAATAAAATATTGATTTTGGTAA CTAGACATTAGGATTGAAGAAGTTAAGTTTTTAATTTAAAAATTTGGGGG ACTGCTTTACTCTCTCTCCCAAGCTCTCCCTACCTCTCTTACTCTTTAAC CTGTTTCATTCCCTTTCTGTCCTTTCCCATTCCCTCTCCCTCCTTTCCCA TTCCCTCATTCTTTTGCCAACAACCCCCGCCCACCCCCCACCTTTTTTTT TTTTTTTTTTTTTTTGAGATAGGGTCTCACTCTGTCACCCAGACTAGACT GGTGCAGGGTGTTCACAGCTCACTGTAATCTCAGCCTCCTGAGCTCAAGC GATTCTTCCGCTTCAGCCTCTCAAGTACATGTGACTACAGGTTCACCCCA CCATGCCTGGGTAATTAAAAAAAAATGTTTTTTTGGTAGAGATGGGGTTA CTCAGGCTTGTCTCGAACCCCTGGCCTTGAGTGATCCTCCTGCCTAGGCC TCCCAGAGCCCAGGGATTCAGGTGTGAGTCACTGTGCCTGGCCAACACCC AAATTTTAACAGTTGTCCTGACTCATGTACCTTTCAAGCTTAAAAGAGAA CATGCGCCCGGCTCTGTGGCTCATGCCTGTAATCCTGGCACTTTGGAGGC CAACGTGGGCAGATTGCCTGAGCTCAGGGATTTGAGACCAGCCTGGGCAA CATGGTGAAACCCCATCTCTACTAAAATGCAAAAAAATTAGCTGGCGTGG TGGTATGAACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATT GCTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTCAGATCGCAAAGGTAA AGAAGGAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0080 a0001c0001t0012g0080	1	322	0.0031	-1157	c.584 others(17): Show c.584+4212_584+5368del		SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	2/8						chr12	TogoVar
ZNF516_chr18_76352682_76500242	76392864	AGGCAGGT others(1150): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG GGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19079.hp1 NA18959.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0217 a0001c0002t0002g0189 a0001c0001t0002g0217 a0001c0002t0002g0189	2	329	0.0061	-1157	c.181 others(21): Show c.1811-13718_1811-12562del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82971628	CAGAAGGA others(1149): Show CAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCCACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCAC AGGGGCCAGAAGGACCTGGTGCCCACCACACCACACCACAGGGGCCAGAA GGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGG CCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACC TGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACA CACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAG GGGATAGAAGGACCTGGTACTGACCACACCACACCACGGGCCAGAAGGAC CTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCAC ACCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCAC AGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAA GGACCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCCAGTAC TGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCA CACCACAGGGGCTAGAAGGACCTGGTGCTGACCACACCACACCACAGGGG CTAGAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGG TGCCGACCACACCACACCACAGGGGATAGAAGGACCTGGTACTGACCACA CCACACCACGGGCCAGAAGGACCTGGTGCCGACACACCACACCATGGGCC AGAAGGACCTGGTGCCCACCACACCACACTCATAGGGGCCAGAAGGACCC GGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCA CACCACACCACAGGGGATAGAAGGACCCAGTACTGACCACACCACACCAC AGGGGCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0011 a0003c0030t0011	a0003c0030t0011g0141 a0003c0030t0011g0141	1	266	0.0038	-1156	c.460 others(17): Show c.460-7038_460-5883del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
FRMPD4_chrX_12133473_12729523	12622000	AAGAAAGA others(1149): Show AAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAG AAGAGAGGAGAGGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAA AGAACCAAACAGAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAAC ATTTTAATAGCTTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAAT GTGAAGACAGGCTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAA AGAATAAAAAAGAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAA TTGAATGAATATATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAA GGGGAAAAAGCTTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTG GAAGGGATATGGACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGA ATCAATCCAAAGACTACTCTAAGACACATTATAACCAAATTTTTAAAAGC CAAACACAGACATAGAATATTGCCCCTAAGAGATATCATTTGAGATATAT AAATTACATGAAAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGG GATACAAGAGAACACAGACCACCAAGAAAAACAAAAAGCAATACATAAAC AAAATAAAAAGTTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACAT TTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCC CAAAAGTTCAAGACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAA AAATTAGCCAGATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAG GCTGAGGTGGGAGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGC CAAGATCACACCACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTT TCAAAAAAAGAAAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAA AGGAAAAAGGAAAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGG AAGGGAAAGGAAGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGA AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	174	0.0057	-1156	c.422 others(17): Show c.422+7138_422+8293del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
PIK3C2A_chr11_17081575_17212986	17112807	ACAGCGTC others(1149): Show ACAGCGTCTTGCTTTGTTACCCAGGCTGGAATGCAGTGATGCAACCATAG CTTCCCACAACCTCTAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCC TCCTGAGTAGCTGGGACTACAGGCATGCACCAACATGCCCAGCTAAACAC CTGTTCCTTTGAATTACAGCAAATGAAATAACACATGAGAATTGCTTTTT CATTTTATTTATTTATTTTTTTGAGATAGAGTTTTGCTCTTGTTGCCCAG GCTGGACTGCAATGGTGCAATCTCAGCTCACTGCAATCTCTGCCTCCTGG GTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGC ACCCGCCACCACACCCGGCTAATTTAGAATTGCTTTTCTAGACTCTCTGG AAGATAACAGATACGCAAAAATACTTTTTGAAACTTAAACATAGCATATA TGACTAAAATATCATCTCGCTAGGCAGAGAAGCAAAAACTTGAGACACAA ACTTTAAAGTTTGAGCTTTGTAAATGTCTTAATCCATCAACAGAACACAA CGTCTTGTGATATCCTTTTCCTTCTTCTAAATCACTGTGATGTGAGACCT CCATTCTTCTGTTTATGGTACTATTGTAATTAATTAGCCATGGAAGTATT CACAAAAACTAAAAATTTTATTAGCAATGATCAAATCTTACTTTTAAAAT GAAACCGACTAAAAAGCTAATTTAAGACAGTGAGACCAGCTGGGCATGGT GGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGCGAAA CCCCGTCTCTACTAAACATACAAATATTAGCCAGGCGTGGTGGCAGGCAC CTGTAATCCCGGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCT GGGAGGCGGAGGTCGCAATGAGCCGAGATTGCACCATTGCATTCCAGCCT GAGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGGCCAGG CATGGTGGCTCATGCCTGTAATCTCAGCATTTTGGGAGGCCGAGGTGGGC GAATCACGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACAAAGTGAAACC CCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGTGCCT GTAGTCC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG00735.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0291 a0001c0002t0001g0292	2	340	0.0059	-1156	c.332 others(17): Show c.3321+398_3322-142del		PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	20/32						chr11	TogoVar
RHOJ_chr14_63199443_63298508	63257033	CTGCACTC others(1149): Show CTGCACTCCAGCCTGGGTGATAGAGCGTGACTCTGTCCCAAAAAAAAAAG AAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTAAG GGGGCTGAGGCAGGAGAATTGTTTAAAACCAGGAGCTGGAGGTTGCAGTG AGACGAAATCGCACCACTGTACTCCAGCCTGGGTGACACAGTGAGACTGT CTCCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCTTTACCAGCTCACCCCG ACCCAGTCCCCAGCATCCCTGACCCCTATCCACTCAAGAGCCAAGCCCAG CTCAGGCTGAGTTGCCCTTCCAGGCAGAGCCAGCTTAGACAAGAAGTTTA ACAATCCTCCAGAATTCATTTGGGTTTTCCCAGATGAAGGGTCATAGGTC AAGACTGATGGAAGCAGAGAGAGGCCACAGGTCAGAAAGTTATCTGAGCA ACGAGGTCAGGTTAGGGCAACAATGAAGATACCGTGGAAGCTGTGAGCCA GGCCCGAACAGCCTAGGAAACCAGACTGAACCAGCCCCTTCTTCTCAGGA GGTGCTTTCAAAGATGGATTCAGGTTACAGTAGCCCACGGCTCCCTACAT CCTCCTTCCTTCCTCACCATATTCCTTCCCCACCCACCCCATCCTTCTCC CCTGCAAATATGACTTTTTTCCCCTCCTCTGATTTTTTTTTTCACAAGGC TGTCATTTCTCTGCAGTTACTGGCAAAGCCACTGAATATCACCCCTCCCC AGCCTTTCTCCCGTGCCAGGTCCTGAATACCTTGCTCCACGGGGACAGAG GAGGGGAGGTGATTTCACATCCCTCCATCCAGGGGAAGTCTCAACCCCTC ATCCACAGGGCTCCCTGGCACAACCTCACTTTGCCTCTAACCCATTAGTG ACTGACTCCAAGAGGGCTATCATCTGGCTCACACCTGTAATCCCAGCACT TTGCGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAG CCTAGCCAACATGGTGAAACTCCATCTCTACTAAAAATACCAAAAATAAG CCAGGCTCAGTGGCGGGCGCCTGTCATCCCAGCTACTCAGGAGTCTGAGA CAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATC ACGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG02015.hp1 others(26): Show HG00099.hp2 HG00438.hp1 HG02015.hp1 HG02074.hp2 HG02145.hp1 HG02559.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18974.hp1 NA18979.hp1 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19074.hp2 NA19082.hp2 NA19086.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0027	a0001c0001t0001g0028 a0001c0001t0002g0007 a0001c0001t0002g0089 others(24): Show a0001c0001t0001g0028 a0001c0001t0002g0007 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0005g0027 a0001c0001t0005g0087 a0001c0001t0005g0100 a0001c0001t0005g0161 a0001c0001t0005g0252 a0001c0001t0008g0003 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0008g0055 a0001c0001t0011g0022 a0001c0001t0011g0024 a0001c0001t0027g0029	29	318	0.0912	-1156	c.179 others(19): Show c.179-12060_179-10905del		RHOJ	ENSG00000126785.13	transcript	ENST00000316754.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr14	TogoVar
ASMTL_chrX_1398139_1457909	1408376	CCTCCAGC others(1148): Show CCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAAC ACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG ACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTG AACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTG CAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAA GGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTA CTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAG GTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAATGC TGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCC AGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCA AATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTG AGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCC AGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATC GCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGC ACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAAC ACTGCA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18955.hp1 HG01358.hp1 NA18955.hp1	a0004 a0010 a0004 a0010	a0004c0007 a0010c0019 a0004c0007 a0010c0019	a0004c0007t0001 a0010c0019t0001 a0004c0007t0001 a0010c0019t0001	a0004c0007t0001g0060 a0010c0019t0001g0017 a0004c0007t0001g0060 a0010c0019t0001g0017	2	175	0.0114	-1155	c.164 others(19): Show c.1645+3201_1645+4355del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
TTC39C_chr18_24009754_24140600	24046200	AGTGCTGG others(1148): Show AGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGTGAATATTTT TACATAGTTTGTCCTACTACACTTCTTACTTGTATCCTGCCTTTTCCATT TATCATCATGATACAGTAACTAGTTTATTGTATGTGCCGAGCTTCAGACT AGACATTTGGGATACTTTTCTTGTTTACTGATTATATCCACATAAGGCAG TATAATTACATCACATTTTCACATGAGGAAATGCAAGTTGAGAGTTTGTC TATCTTGCTAATAGTCATAGATTTAGTCCAGGATCAACTTGAGATTTTAA CTTGGTAGCGTTTTCTAGAGCCTGTGCTTTTTCCAGCACACCAGAGTAAG CATTACCTTAGTTATGACTTTTTGTTACAAAATAATATTTTGCTAGGTGA ATATGTTTAATTTGGCTAACAGTCTGTATTCCTCAATATTCTAGTTATTC TTGTTTCTCAATACTGCATATCATACTACTATGAATGTTTTTGCATAGAA ATTTTTTCTATATTCTTCTTAGGATAGATTCTTAGAAACATTTTTAAGTC TCTTGAAATGTAGAGAACTTTCCAAAAGATTTGCACCAATTTTCATTCCC ACCACTCACTGTAAATATTATATTGTATATTTGAATGCATATAGGCAAAG CAATATGCTTTTTTCATGCTTCCACAGAAAAAATACATTTAAACGTATTT TATTTTTGCTTCAAATAATGACTTTTGTTTCACTTAATTTAATTGACTTT TGTTACTGAAATACTTAACTTTCCCTAAATATCAGCTCTGTAGTACATAG AATGTTAGCATGACATTCATATTCTGCCCTGCTCAGAACTTTAGTACAGT TTGCAGTTTCTTAAGAAGATATACATTTACATTGATATATATTTCTTTTT TTTTCTTTTTTTGAGATGGAGTCTCACTCGGTCACACAGGCTGGAGTGCA GTGGCGCGATCTCCGCTTACTGCAACCTCTGCCTCATGGGGTCAAGCGAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGTGCCTGCCACCA CATCTGGCTAATTTTTGTATTTTTGGTAGAAACGGGTTTCACCATGTTGG CCAGGCTGATCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCCT CCCAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp2 HG02897.hp1 others(4): Show HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0221 a0001c0001t0014g0223 a0001c0001t0014g0224 others(4): Show a0001c0001t0014g0221 a0001c0001t0014g0223 a0001c0001t0014g0224 a0001c0001t0015g0141 a0001c0001t0015g0225 a0001c0001t0015g0226 a0001c0001t0015g0235	7	326	0.0215	-1155	c.168 others(19): Show c.168-17924_168-16770del		TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASMT_chrX_1610059_1648081	1637366	CTCCTGAT others(1147): Show CTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	220	0.0045	-1154	c.910 others(16): Show c.910+815_910+1968del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
APIP_chr11_34877295_34921379	34900255	TCCCAGAG others(1146): Show TCCCAGAGCTAAAGTAGGTTCCAAAGGAGCAATCTGAGACAGCTATTGAA TGTCCCAATGCTTCCAGTCCCCCTCCAATTGTACCATCAGCTCCTCTAGC TCCACCATTTCCAGTATATCCTACTCTCCCCATTTCACTCTTACTGCTGC AGGAAGTGCTTGATGGGAATGGTGCCATGAGGGTTCAAGTTCCCTTTCAT TACAGAACCTTAAGCAAATAAAGGGAGACTTAGGCCGATTTTCTGACAAC CCAGGTAGGTATATAGAAATTTTCCAAAATTTAACTCAGGTATTTGACCT CACATAGAGGGATGTTACGTTGCTGCTACGTCAGACCCTCACTGAAGCTG AAAAGCAGAAAGTTCTGCAGGCAGCAGAAAAATATGGAGATGAGCAACAT GCCTCCTGTAGCAAACCGAGGAGACAAAGAGGAGATAGGGAAGGTGAGGA AGAAGTGGAAACTCCATTCCTACTAGGAAAGGAAGCAGTTCTGGTAGACA ACCCTGACTGGAACACCAGTAACTCAGGAAATGAATGGAAAAGGAAGCAC TTTTAAGGTGTGTATTAGAGGGCCCATGGAAAACCAGGGCCAAACCTCTC AATTACTCTAAACTGTCCATGATAGACCAAAGACCAAACGAGAATCCCAC AGCCTTTATGGAAAGGCTGAGAGAGGCACTAATAAAACATACCTATTTAT CCCGATTCAATCAAGGGACAGCTCATTCTCAAGGACAAGTTTATTACACA GGTAGCTCCCAATATTAAAAGGAAACTATAAAAGCAAGCTATAGGGCCAG ATAGTACCCTAGAAAACCTCCTAAGAAAGCCACTTCGGTCTTTTACAATA GGGATCAGGAGGAAGCCCAATAAAAGGAAAGGAAAATACAGGAAAACAAC AGAGGCTCTAGTAGCAGTGGTGCAAGCTTGCAAAGTCCAGAATCCCCAAG GTGCATCCACTAGCTGTTATCGATGTGGCAAATCAGGGCATTTTAAGAAA GAATGTCCAGGTAGCAAGACAAAGCCACCTCGACCCTGTCCAGCCTGTGG CGGAGACCACTGGAGACAGATCTGCCCCCAGAGACGGAGGTCACTGGGTT CAGAACCAGTCTCACAGATGGTCCAGCAAGACTGATGGGTCCCGGGGGCT CAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0080	1	354	0.0028	-1153	c.58- others(15): Show c.58-6298_58-5146del		APIP	ENSG00000149089.13	transcript	ENST00000395787.4	protein_coding	1/6						chr11	TogoVar
LYPD8_chr1_248734415_248760759	248746722	GCACCCAC others(1146): Show GCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCA TCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAC CCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCACCCG CACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCA GGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAG GGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCA GCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCG CCCGCACGGCCAGCACCCACCCAGGGCATCGCCTGCACGGCCAGCACCCA CCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCAC GGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGG CATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGC ACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCC CGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACC CAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGG CCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCA TCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCAC CCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCG CACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCA GGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCC AGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATC GCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCA CGGC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	372	0.0027	-1153	c.337 others(16): Show c.337+414_338-1444del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
SKP2_chr5_36147111_36189319	36173620	CTTAAAAT others(1146): Show CTTAAAATCTTTCCCTTTGTTCCTCCAAGAAAGAACAGAGAGCCTGTTTA CCGAGTTTTGGCAGAAATAGTAGGTATTAAAATGCTGCTTGCTAGACACA TTCAGGACAGAGAGACAGACTGTAAATTGAAGTGTTAGTTTTTTAATTAT ACCATGGGGATAAAAAGTTTTTAATGTCATTAACAATAGCACACACCATT TCATTATATATGAGATAATATGGATTTGGTTTTAGCTCATAGACTGGTAC CAGATGGCCTGGGTTCAAATATCCACTCTGCCATTTACTGGGTAGACTTG AGCAAGTTGCTAAACTTGCCTGTTCCTTAGTTTTCTCAGCAGTAAAATGG AGATAAGTAGAACCCATCTCTTAGAGTTACAGGAAAGAATAAATGAGTTA AGACATGTACAGCATGTGGAACATTTCTTGCCACATGGTAAGAGTTCAAT TAGTGTTGGCTGTTAATACTGTTCCTTCCCCCACTACCCCCATCACTACC TTTCCATGGAGCAATGGATGAAGCACAGAAACATTTGGTCTTGGATTTGA CCTTGACTTCTGTAGCTGAAATCATCTCTCCTTTGAAGTAACGGGTTGGA TTAACGGGTGGTTTCTAAGATCCTTCTAGCTCAGGTTGGGTCTACTGTTT ATGGTGAAATGAAGGGGACAGTGAAAAGGAAACCTTGGCAGTGACTACTG TTTACTAACTACTTCCTGCCCAGGGAGGACAGAGCTTAAGTGTGGGCCAG AGGAAACTAACCCTTTATCCCCCAATGTTTCGTTCTTTCTCCAGTGGTGT CAAAGTATGATTGCATCAGATTTTGCTGATGGCTAGTTGGCTGGCTAGAT GATTGGTCCCTCAAAATTTTATTGTGTACTTTTTTCATTTTTTGGTCATT TATTAAATATTTATTGAGCACCTACAGTGATTGAACAAAACAGAGCCTTG AACAAAACAGAGAAAGTCACTCTTATGAAGATTACTTTCTAGTGGGGGAG CCAGAAAGTGAACATATTTCATAAATGTTATGAAAGGAGGTAAAAATGCA AGGACGAAGAGCAAAGCAGAGTAACCAGATAGAATGTGGCAGAAAGAGGA CTACTTTTAGATGGAATGGTTAAAGACAGGGCCTCTCTGAGGAGACTGTA CTGG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0103 a0001c0001t0027g0103	1	400	0.0025	-1153	c.901 others(17): Show c.901+1888_902-2192del		SKP2	ENSG00000145604.17	transcript	ENST00000274255.11	protein_coding	7/9						chr5	TogoVar
UNKL_chr16_1358205_1419704	1372935	GGCACACC others(1146): Show GGCACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGGGCACACCACACAGGGACTGCCGGCCAACACCGCAGAGACCTCAG CAGCGTGGAGCACACCACACAGGGACTGCCGGCCTACACCGCACAGAGAC CTCAGCAGCATGGAACACACCACACAGGGACTGCCGGCCAACACCGCACA GAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACC GCACAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCA ACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCC GGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGA CTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACAC AGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACAC CACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGG CACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCG TGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAG CAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGAC CTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACA GAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACC GCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCT ACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCC GGCCAACACCGCACAGAGACCTCAGCAGCATGGAACACACCGCACAGGGA CTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCAC AGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACAC CGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAG CACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCG TGGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02735.hp2 others(3): Show HG01243.hp1 HG02280.hp2 HG02735.hp2 HG03139.hp1 HG06807.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0058 a0002c0002t0001 a0001c0001t0002 a0001c0001t0058 a0002c0002t0001	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0058g0224 a0002c0002t0001g0052	6	319	0.0188	-1153	c.126 others(19): Show c.1265-2477_1265-1325del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14						chr16	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(1145): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0259 a0001c0002t0035g0259	1	200	0.0050	-1152	c.454 others(17): Show c.454-3655_454-2504del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
MUC4_chr3_195741771_195816929	195780884	CCTGACCT others(1145): Show CCTGACCTGTGGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTG TCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGCGTGGCGTG ACCGGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGAC CGGTGGATGCTGAGGAAGCGCCGGTGACAGGAAGAGTGCTGGTGTCACCT GTGGATGCTGAGGAAGGGATGGTGACATGAAGAGGGGTGGTGTGACCTGT AGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGG ATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGAT GCTGAGGAAGTGCTGGTGACAGGAACAGGGGTGGCGTGACCGGTGGATGC TGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACTGAG GAAGTGTTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGA AATGTCGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAA GGCCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTG TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCT GGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGG TGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTG ACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGAC AGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAG GAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGA AGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAG GGGTGGCCTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGA GTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGT GGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01361.hp2 NA19043.hp2 HG01361.hp2 NA19043.hp2	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0002 a0015c0011t0002	a0015c0011t0002g0194 a0015c0011t0002g0195 a0015c0011t0002g0194 a0015c0011t0002g0195	2	247	0.0081	-1152	c.954 others(10): Show c.9544_10695del	p.Thr others(15): Show p.Thr3182_Gln3565del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10807/16756	9544/16239	3182/5412			chr3	TogoVar
NXN_chr17_794310_984776	924329	TGGGTTCA others(1145): Show TGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGCGTAGGTGGGATTGCA AGGCGTGAGCCACTACGTCCGGCTAATTTTGTATTTTTAGTAGAGATGGG GTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCCAACCTCAGGTGATC CGCCCACCTCGGCCTCCCGAAGTGCTAGGATTACAGGGATGAGCCACTGC GCCCGGCCGATTTTTAATTTGTTGTTGTGATAGAACATACATAACAGAAA ATGTCCTATTTCAAGTGTGTTCCGGTGGACCGTCCTGCAGCATTAGGTGC ATCTCCTGTTCTGCTACCATCACCACCATCTGTCTCCAGAACTTTCCATC TTCCCAAACTGAAATTCCGTCCTCAGTAAAGACTAACTCCGTTCCGTTCC GTTCCGTTCCCCTGCTCCCCAGCCCCAGCCCTTGGCAGCACCAAGCCTCA TTCAGTTTTAAAATGCAAACATTCAAAGACCAAGCCTCATTCACACCTTC GGTGTAAGTTACTTTCATCTGCGAAACTCCCATCACTCAGAAAGGAATGC CCAGGTAAAGGCAGGAAGTACAGGTACACAGAGCTGGAGACAGGCCTGGG TGGCAATTTGGGATGGGGGTTGGGAGAAGAGATTTTACAAGTCAGATGGG AAGGAAAAGTAACTATTTGCTTTGAGGTTTGGCCCAGGGCCTTGGGAGCA GCCGGCGGATTCAGGTGTAAGAACTAGCCACCAAAAGCCTCTGCATCTCT TGTTCAAAGCTGATTGTCTCAGGTTTGACTGTCTCAGGCTTTGGTGTCTC GCAGAAGCACCAAAGGAGAGGACAGGGAGGAAGAAAGAAGGGGTGGAAAG GAGATACAGAGACTTAAGTCAAGAATGAGGCCTCCCGCCTCCCGGAAAGC AAACCTAGGAATACTCTTGACAGCTGGTCACACTGCACCTGCCTGAACAA GTCCAGTGACGGGTACAAGGAGGCCCCAACATTCCAGAGAAGCACATCCA GGCAGCTTCAGAAACCCCAAACCCAGGAACACAGAGGAGGCTGGAGAGGC TTCTGGCTTTTTCCTGATTGACTGACTGAGACAGAGTTTTGCTCTTATCA CCCAGGCTGTAATGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	240	0.0042	-1152	c.360 others(19): Show c.360+53838_360+54989del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
SLC66A1_chr1_19307326_19334300	19320695	GTGAGCCA others(1145): Show GTGAGCCACCGCACCTGGCCTCACTTCTTTTTTTTTGAGACGTAGTCTTG CTCTGTTGCCCAGGCTGGAGTGCAGCAGTGCAATCTTGGCTCACTGTAAC CTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGGAGC TGGGACTACAGGCGCCTCCCACCACACTCAGCTAATTTTTGTATTTTTAG TAGAGACAGGGTTACACCATGTTGGCCAGGCTGGTCTCAAACTCCTGATC TCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAACTGT GAACCACCCTGCTCGGCCGTCTTTTCACTTTCTTGATGGTGTCCTTTGAA GCATAAAAATTTTAAATTTTGATGATGTCCAGTTTATTTTTTCTCTTTTG TTTCTTGTGGTTTTGGTGTCATATCTAAGAAACCACTGCCAAATGCAGAT AACAAAGATTTATCCTTATCTCTTCTTTTTTTTTTTTTTTTTTTTTTGAG ACACGGTCATACTCTGTCCCCCAGGCTGGAGTGCAGTAGTGTGATCACAT AGCTCATTGCAACCTTGACCTTCTGCGCTCAAGCAGTCCTCCCACCTCAG CCTCTTGAGTAACTGGGACCACAGACGTGCACCACTAAACCTTGCTAATT GAAATTTTTTTTTTTGGTAGAGACAAGGTCTCACTGTATTGTCCAGGCTG GTCTCAAACTCCTAGATTTAAGCAATCCTCCTGTCTCAGCCTCCAAAGTG TTGGGGTTCAAGCATGAGCCATTGTGCCCAGCATCTCTTGTTCTAAGTGT TACAAAGATGTAACTCTTACATTTAGGTGTTTGATCCATTTTGTAAATGA TGTGAAGTAGGAGTCCAACCTCATTTTTTTTTTTTTTCTTGAGACACAGT CTTGCTCTGTTGTTCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTG CAACATCCTCCTCTTGGGCTGAAGTGATTCTCCTACCTCAGCCTCCTGAG TAGCTGGGATTACAAGCATGTGCCACCATGCCTGGCAAATTTTTGCATTT TTAGTAAAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCGT GACCTCAGGTGGTCTACCTGCCTCAGCCTCCAAAAGTGCTGGGATTACAG GCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp1 others(14): Show HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01891.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0129 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	17	454	0.0374	-1152	c.164 others(17): Show c.164+2864_165-2777del		SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
VAV2_chr9_133756894_133997324	133827216	GCTACTGC others(1145): Show GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGC TGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCA CTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGG GGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGA CCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACC ACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAG TGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCG GGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACG GGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CAC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0188 a0001c0003t0007g0188	1	186	0.0054	-1152	c.449 others(17): Show c.449+5904_449+7055del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827250	CGGGGGCA others(1145): Show CGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGC CAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCA GCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGG GGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGG CTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCT GACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0128 a0001c0004t0002g0128	1	180	0.0056	-1152	c.449 others(17): Show c.449+5870_449+7021del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827300	GGGGCATC others(1145): Show GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGC CAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCA GCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGG GGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGG CTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCT GACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAC CAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02717.hp2 others(4): Show HG02109.hp2 HG02280.hp2 HG02717.hp2 HG02723.hp1 HG03098.hp1 HG03486.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 others(1): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0002c0005t0013	a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 others(4): Show a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0003g0093 a0001c0003t0008g0099 a0001c0003t0008g0185 a0002c0005t0013g0136	7	129	0.0543	-1152	c.449 others(17): Show c.449+5820_449+6971del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
DHRSX_chrX_2214506_2505976	2277551	AGAGAGAG others(1144): Show AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGA ACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGA AAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGA GGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATG GAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACG GG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0035 a0002c0002t0004g0035	1	48	0.0208	-1151	c.389 others(19): Show c.389-11755_389-10605del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
BOK_chr2_241553745_241579131	241566228	GAGCCGAG others(1143): Show GAGCCGAGATTGTGCCACTGCTCTCCAGCCTGGGTGACAGAGGCAGACCC TATTCTTTCTTTTTTTTCTTTTTTCTTTTTTTTTTTTGAGATGGAGTTTC ACTCTTGTTGCCCAGGCTGGAGGTGCAATGGTGCGATCTCGGCTCACTGC AACCTCCATTTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTCGAGT AGCTGGGATTACAGGTATGTGCCACCACGCCTAGCTAATTTTTGTATTGT TAGTATTATTTATATTATTAGCAGACAGAGTTTCACCATGTCAACCAGGC TGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACTTCGGCCTCCCACA GTGCTGGGAAAAAACACAAATCAGACCATGTCACTTCCCTGCATAAAGTT CTCGTGTTGCTGTGACTTCCCGTGTCTTTCAAAGTAAACCTAAGTTTGAA TTCCCAGCTGAGCTGGCCCCTGGCAGACTCCAGCCCTTTTCCTGCCACCT CAACCTGTGAAATACGCCAGACACAAAATGAACAAGCCGTGTGATTACAC TTATGTGAAATTTTCAGGGTAGGTAAATCTACAGAGACAGAAAGTAAGAT GAGTGGCTGCCAGGGGCTGTCGGTGAAATAGGGAGTGACTGCTAGTGGGC ATGGGGTTTCTCGTGGGATGATGAAAATGTTCTAGAATTAGATAGAGGTG ATGGTTGCACAGCTTTGTGAATATGCTCAAAGATATCCCACTTTTAAAAG ATTAATTTTATGGTAATGGAATTATATCAGTTAAAAAGACACAGAAGAGC TGGAAGGACACAGTGGACGCCGAGGCTGGTGCCTCCGGACTCCTGTCTTC CTGTCTTTCTTTCCCATCCACCCCTCTGGAGTGGAAATGTTGCCATCACT CGGAACATAGTATGTTCTTTTTTTTTTTTTTAATTTTTGCTCTTTTGCCG AGGCTGGAATGAAGAGTTGTGATCTTGCAACCTCCGCCACCCGGGTTCAA GCGATTCTCCTGCTTCACCCTCCTGAGTAGCTGGGATTACAGGCACCCGC CACCATGCTTGGCTAATGTTTGTATTTTTAGTAGAGATGGGGTTTCACCA TGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCCGTCTGCCT C	G G	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	432	0.0023	-1150	c.349 others(17): Show c.349+3757_350-2743del		BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765355	CTTGGGGA others(1143): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0002 a0004c0023t0002	a0004c0023t0002g0172 a0004c0023t0002g0172	1	401	0.0025	-1150	c.130 others(19): Show c.1307-2305_1307-1156del		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	1399982	ACCTCCTT others(1143): Show ACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTT GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTTGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTT ACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCG TGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCC C	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	27	0.0370	-1150	c.107 others(21): Show c.107-101377_107-100228del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1400588	ATCCTCCA others(1143): Show ATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCA AAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGT CCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGA GTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTAC TGAGCACTCCCTCCTTGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTC G	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02922.hp2 HG02976.hp1 others(1): Show HG01361.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0023 a0002c0001t0002 a0002c0001t0005 others(1): Show a0001c0002t0023 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019	a0001c0002t0023g0005 a0002c0001t0002g0032 a0002c0001t0005g0035 others(1): Show a0001c0002t0023g0005 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0031	4	39	0.1026	-1150	c.107 others(20): Show c.107-100744_107-99595del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1400687	AAAGTCGT others(1143): Show AAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTAT TGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGT GCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTG TCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGG AGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTG CTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTA CTGAGCACTCCCTCCTTGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGA GCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGC CACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACC TCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCT CGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCC T	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-1150	c.107 others(20): Show c.107-100678_107-99529del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14						chr8	TogoVar
DPH7_chr9_137549444_137583925	137565454	ACTGTCTG others(1143): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC T	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp1 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0251 a0001c0001t0001g0252	2	309	0.0065	-1150	c.641 others(16): Show c.641-1450_641-301del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
ADARB2_chr10_1172313_1742525	1238115	CCTCCCTC others(1142): Show CCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCC CTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTAC TCCCCTCTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCC CTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	76	0.0132	-1149	c.136 others(19): Show c.1361+2867_1361+4015del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
DHRS12_chr13_51762993_51809163	51774717	TCTCCTAC others(1141): Show TCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTAT TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCT ACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCT CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTC TCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATT CTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTACTACATGTAT TCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCC TACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTAT TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCT ACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCT CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTC TCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATT CTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTAT TCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	417	0.0024	-1148	c.363 others(16): Show c.363+1195_364-684del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DPH7_chr9_137549444_137583925	137565752	TCTGTCTG others(1141): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18979.hp2 HG01515.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0311 a0001c0001t0002g0269 a0001c0001t0002g0311	2	310	0.0065	-1148	c.641 others(16): Show c.641-1746_641-599del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565774	GGGGTGAC others(1141): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	226	0.0044	-1148	c.641 others(16): Show c.641-1768_641-621del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
GRM5_chr11_88499642_89070982	88502476	TCAAAAAA others(1141): Show TCAAAAAAAAAAAAAAAGAATACTATAAATTGGTAACTTCCGAAGTGAAG ATAGCCATTTAATTTGGAATTACTACATTTTTCAAACTTTTAAGACTCTA AGAACTTTTATGAATCACCTATTACTATTCAGCAGTTCAGAAAAGCCACA ATTTATTATGTGGTTTTCACGGACATAGAATTTGTATAATTTAAAATATA ACATCTATCTCATCATAGAAATCTGATAGTATGAAAATTTTTATTTTTAA TGTCAATGAATAAAAATACAAGCTATACATAAATAAGCCAAAGTGTCTGA TATGTATATCACATAGGTATCCTGTATATAGATCATACCTCAAAGAGACT TATGTCCTGGCAAAAATAAATGTCTTTGTCCTGGTGTAACAGTAATTTAA AACATTTATTCTAGTGGAGGTTAAGTGTTCCTGGAAACTTTTGGTTCAGG ATTCTAAGAGTGGCTGGAGAAGATGAGTTTAAACATTCTCTTCATAGAAC TTATTTACTAACATAATAACCTAAAAGTAATAAACAGAGTGAGATGTAAT AACTGATTCTGAGTTTTAAAATACTGTGAGAGAAAATGTAAATACCAAGC TTTTGCTTAAGGAGATAACTTCATTAATATAATTCTGCCTATCTATGTGC TTACCTACCTTTCTGCCTAGCTATCATACAAAGTAAATATTTGCAAATTG TTTATGTTCTAAAACTGATCATTCATGTACAGCATAACCAAAAACTTGGC CAGCATTCAGCAGCAATTATAACAGAGGAAAAGCATTCTCTCTGTGGTGT TCAATATCAATTTACTAAGTTGTCCTTGATAGACAGTTCCAAGGTTGCAT ATGAGTTCAAACCTCAATAGGTTTCCTCCAGGATATATGCTTTAAGTTGG ACAGGAACTTGTTAAGCTCCACAAATAACATTGATATAACAAATTTAAGC TTCCTGCTGAATATTAACTGTATACTAAATACTACATTGACACTAATAAT AGCTACTATTGAGCATTTATCAGGAATGTTGAAATGATAGAAACTTCACA GATTATTGTAACTCACTTCTGCATTTAAAGCAAGAGGAACAAGTTGTAGA GAAATCAGAGTGATTTATCCAAAGTCAGTTGGTGACAGGTAAGAGATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0026 a0004c0012t0026	a0004c0012t0026g0015 a0004c0012t0026g0015	1	182	0.0055	-1148	c.49 others(11): Show c.4968_*6115del		GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding					2165		chr11	TogoVar
SCML2_chrX_18234313_18359688	18261189	TGTCTTGC others(1141): Show TGTCTTGCTATGTTGCCCTGGCTGGATTTGAGCTCCTGGGCTCAAGGGAT CCTCCTACCTCCGCCTCCCAAAGTGCTGGGATTATAGGCATGCGCCACTG CCTGGACACAATCATGTTATTTTTCAGTACTGAATTATAATTACTGGGTT GACCATGTCATTCTTTCACTATTTTAAAAATCTGAAATCTGAATCCTTTG TCTTGAGACATACCAAGATAGTATGTTTGCATTAACACTGCAAATTGAAT AAAGGTACATTCATTAAGAAAATGTGCTCCTGCACTCCTCCCTTAAGGGG AGGAAGAAAATGACAACTTGTATCCAAATATGACATAGATCCCATAAATA CATACAAGTATTATGTATTCATAATAAAAAGTAAAAAACTTTTAAAATAA TTTTTAAAAGATTAAAGTACCTGCCCCTTCTCCATCCCCATCATCAAATA AACAATGTTTTCAAAGAGAGCTCTCCAAAATTATCAAATTAGCTTGGAAC TGGAAACTAAAGGAGTCAAAGGAAACTATTTGGTGTTATCTTACATTTTC ACCATTATACCAACTAATCACAAAGACATTTCAGAAGCTGGAAAATATAC ACACATGTTAATTTTTTAATGCATTTAAAATATTATTTCACTTTAAATTT CACTATTAACTTTTCTTACTTTTATTTTTCATTTAAAAAATTTCATCTGC TACCATTTATATTAGAACAATCTGCCTGATTTTTTTCAATGTTCATGACT ATATTTTTGAAATATTTAGCTTTGACTTTTGATTTTTATTTTGTAAATTT TGAGTGTTTTTAAAGAAAAATAACAGTATCAATATATTTTAAAATCACAA TGTTATTTTTTTTCCATACAGCAAACATAAGTTGAAACAAAATGGAAATG TTATAGATACTGATATCGGATGGCTGAACTCAGGAATGTGTAAGATAATA CTGCTGGCATTTAATTCAGTCAGCCACAAGAGATCTGAAAAGATTCTATG TCTTTATATTTAGAGTGCATCTCTTGTAGACAGGACATATTTGGGTCTTT AAAAAAAAATCCATGTTGATAATCTCTGTCTTTTTAACTAGAAAGGATAA TCCACTAACTTTTCATGCAATTACCAGTATGTTTGGATCTGGGTCTACC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	242	0.0041	-1148	c.949 others(16): Show c.949-2046_949-899del		SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14						chrX	TogoVar
ANKRD33B_chr5_10559070_10662816	10638938	GATATTAG others(1140): Show GATATTAGCGGGTGACGCGGAGTTGCACGGCGATGTTAGCGGGTGACGCG GAGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTA GCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGC GCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTG ACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGA TGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGG GTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGC GGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGC GGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATG TTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGT TGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCG GTGACGTGGAGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGG CGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC GGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTT AGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTG CGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGT GACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCG ATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGG AGTTGTGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAG GCGGTGACGTGGAGTTGCGCGGTGATGTTAGCGGGTGACGCGGAGTTGCG CGGCGATGTTAGCGGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGA CGTGGAGTTGCACGGTGATGTTAGGCGGTGACGTGGAGTTGCGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp2 others(109): Show HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010	a0001c0002 a0001c0003 a0001c0005 others(13): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0020 a0001c0021 a0001c0023 a0001c0030 a0001c0031 a0001c0037 a0002c0012 a0003c0019 a0005c0017 a0006c0018 a0007c0022 a0010c0029	a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 others(33): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0016 a0001c0002t0027 a0001c0002t0030 a0001c0002t0043 a0001c0002t0046 a0001c0002t0050 a0001c0002t0053 a0001c0003t0003 a0001c0003t0007 a0001c0003t0017 a0001c0003t0022 a0001c0003t0060 a0001c0005t0002 a0001c0005t0014 a0001c0005t0023 a0001c0005t0063 a0001c0009t0008 a0001c0009t0064 a0001c0020t0044 a0001c0021t0011 a0001c0023t0001 a0001c0030t0019 a0001c0031t0062 a0001c0037t0002 a0002c0012t0015 a0002c0012t0034 a0003c0019t0028 a0005c0017t0020 a0005c0017t0021 a0006c0018t0035 a0006c0018t0061 a0007c0022t0020 a0010c0029t0041	a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0063 others(109): Show a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0157 a0001c0002t0001g0164 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0189 a0001c0002t0001g0200 a0001c0002t0001g0216 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0247 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0265 a0001c0002t0001g0275 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0294 a0001c0002t0001g0312 a0001c0002t0001g0318 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0100 a0001c0002t0004g0107 a0001c0002t0006g0322 a0001c0002t0016g0048 a0001c0002t0016g0049 a0001c0002t0016g0150 a0001c0002t0027g0070 a0001c0002t0030g0037 a0001c0002t0030g0039 a0001c0002t0043g0221 a0001c0002t0046g0177 a0001c0002t0050g0078 a0001c0002t0053g0017 a0001c0003t0003g0036 a0001c0003t0003g0053 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0124 a0001c0003t0003g0145 a0001c0003t0003g0153 a0001c0003t0003g0161 a0001c0003t0003g0170 a0001c0003t0003g0186 a0001c0003t0003g0212 a0001c0003t0003g0225 a0001c0003t0003g0231 a0001c0003t0003g0262 a0001c0003t0003g0295 a0001c0003t0007g0215 a0001c0003t0007g0254 a0001c0003t0007g0259 a0001c0003t0007g0276 a0001c0003t0007g0309 a0001c0003t0017g0080 a0001c0003t0017g0091 a0001c0003t0017g0095 a0001c0003t0022g0041 a0001c0003t0022g0119 a0001c0003t0060g0093 a0001c0005t0002g0055 a0001c0005t0002g0061 a0001c0005t0002g0120 a0001c0005t0002g0135 a0001c0005t0002g0174 a0001c0005t0002g0208 a0001c0005t0002g0253 a0001c0005t0002g0272 a0001c0005t0014g0086 a0001c0005t0023g0223 a0001c0005t0023g0233 a0001c0005t0063g0089 a0001c0009t0008g0289 a0001c0009t0008g0304 a0001c0009t0008g0313 a0001c0009t0064g0085 a0001c0020t0044g0158 a0001c0021t0011g0031 a0001c0023t0001g0029 a0001c0030t0019g0199 a0001c0031t0062g0114 a0001c0037t0002g0188 a0002c0012t0015g0020 a0002c0012t0015g0285 a0002c0012t0034g0071 a0003c0019t0028g0011 a0003c0019t0028g0232 a0005c0017t0020g0136 a0005c0017t0021g0127 a0006c0018t0035g0112 a0006c0018t0061g0087 a0007c0022t0020g0005 a0010c0029t0041g0146	112	322	0.3478	-1147	c.637 others(16): Show c.637+773_637+1919del		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
COL4A4_chr2_226997714_227169205	227046239	AATAAAAT others(1140): Show AATAAAATTTCTCATATAGTTCTGCTCAGAAAATATCTAATATTCTTTCT GTTGTATGAAATGAAACACAGCTATTGCCAGATGGAATTTTAAGATAATG CACAAAATTATTGATATGAGGTGTTTTAATTTACAAGGTACCCATCTAAA CACAAACCTGGTTTCTAACCTGACCACTATTGGCTGAGTGCCCTGGGATA TAACTTATTTAACCAGGCATCTGTGAATGGACATTTGTTCCATTCAAACA ACGCATATTCCTGGGCATGCATCTTTGTACACTTGTCTGATTACTGACTC CAGATAAATTCCTAAGAGAATTCCTAAGTCAAGCGATATGCATATTTTAA ATATTGGTGCATTTCTATAGGGTCCAGAAAGGGAGTACCAATTAATATCT GCAACATTTTCTGAAATGTAAACATATATGAGTTAAACCAATAGAACATT CTGTCCTAAGGCTGCTTTCCCCTCTAGGGGTCCTGTTCTGTCGGCTTGAA CTCAAATGGTTTCCCTTTCCCTGTAAAGCATGGAGCTGTGCATAACACTG GCACCCCCCTTCTGCTGTGGGTCATCTAATGTAGCCAGTTGTGGCCTCAA CTGTCACAAGAACTCAATGGTGCATCACAATCCATTCTGAAGGATTCCAT GTTAAATTATTATTGAGAAGCAAAATACTGTTTAAAATGACTTAGATTTC TTGTTGGTGATGAGGTTTATGTTTGCTTGATTTGGTTTGATTTTTAGTAA ATTAAAATAGATTCAATGATGGCTCAACAATGGCGCACCACTTACACTGG CATGTGCTTTTCTCAGTAGAAAGAAAGAGCTGGAATGACAACCTGCAGCT GTAGTCATTGTGAGTGGTTATTGCGAATGCATCATTTTAAATGATAGAGG GTGCAAAATGGTCCAGATTTTAATTGTTTGCAATATTCATTTTTGAGTTT GCCAAAATATGGGCATGCCTGGGGAGTTTATTATTGTGTCAACATCATCG GTCACATGAGCCATGATGGAAAAATGATTGTGAATCCCTAGTATGTAACC CTGGTGTTCTTCTAGGCCAGGCAAGAAATGCTATGGAAGTGTTTATATAT AACCCGTTTTATCTATACCTTAATGCACAAAGGGGTAAGAAAATATTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA21309.hp2 HG02970.hp2 NA21309.hp2	a0018 a0018	a0018c0064 a0018c0065 a0018c0064 a0018c0065	a0018c0064t0005 a0018c0065t0005 a0018c0064t0005 a0018c0065t0005	a0018c0064t0005g0179 a0018c0065t0005g0151 a0018c0064t0005g0179 a0018c0065t0005g0151	2	282	0.0071	-1147	c.328 others(17): Show c.3289+89_3289+1235del		COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47						chr2	TogoVar
RIPK1_chr6_3063494_3120187	3092488	GAACCGCA others(1140): Show GAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGC ACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCA GAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	331	0.0030	-1147	c.915 others(17): Show c.915+2860_915+4006del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCML2_chrX_18234313_18359688	18261189	TGTCTTGC others(1140): Show TGTCTTGCTATGTTGCCCTGGCTGGATTTGAGCTCCTGGGCTCAAGGGAT CCTCCTACCTCCGCCTCCCAAAGTGCTGGGATTATAGGCATGCGCCACTG CCTGGACACAATCATGTTATTTTTCAGTACTGAATTATAATTACTGGGTT GACCATGTCATTCTTTCACTATTTTAAAAATCTGAAATCTGAATCCTTTG TCTTGAGACATACCAAGATAGTATGTTTGCATTAACACTGCAAATTGAAT AAAGGTACATTCATTAAGAAAATGTGCTCCTGCACTCCTCCCTTAAGGGG AGGAAGAAAATGACAACTTGTATCCAAATATGACATAGATCCCATAAATA CATACAAGTATTATGTATTCATAATAAAAAGTAAAAAACTTTTAAAATAA TTTTTAAAAGATTAAAGTACCTGCCCCTTCTCCATCCCCATCATCAAATA AACAATGTTTTCAAAGAGAGCTCTCCAAAATTATCAAATTAGCTTGGAAC TGGAAACTAAAGGAGTCAAAGGAAACTATTTGGTGTTATCTTACATTTTC ACCATTATACCAACTAATCACAAAGACATTTCAGAAGCTGGAAAATATAC ACACATGTTAATTTTTTAATGCATTTAAAATATTATTTCACTTTAAATTT CACTATTAACTTTTCTTACTTTTATTTTTCATTTAAAAAATTTCATCTGC TACCATTTATATTAGAACAATCTGCCTGATTTTTTTCAATGTTCATGACT ATATTTTTGAAATATTTAGCTTTGACTTTTGATTTTTATTTTGTAAATTT TGAGTGTTTTTAAAGAAAAATAACAGTATCAATATATTTTAAAATCACAA TGTTATTTTTTTTCCATACAGCAAACATAAGTTGAAACAAAATGGAAATG TTATAGATACTGATATCGGATGGCTGAACTCAGGAATGTGTAAGATAATA CTGCTGGCATTTAATTCAGTCAGCCACAAGAGATCTGAAAAGATTCTATG TCTTTATATTTAGAGTGCATCTCTTGTAGACAGGACATATTTGGGTCTTT AAAAAAAAATCCATGTTGATAATCTCTGTCTTTTTAACTAGAAAGGATAA TCCACTAACTTTTCATGCAATTACCAGTATGTTTGGATCTGGGTCTAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03540.hp2 HG02486.hp1 HG02559.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0232	3	244	0.0123	-1147	c.949 others(16): Show c.949-2045_949-899del		SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14						chrX	TogoVar
SNTG2_chr2_945849_1372613	1012958	AGGGCAGA others(1140): Show AGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAA GGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAG AGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAG GGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGG GTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGG CAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGT GGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGG ATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCA GAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGAT TTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGA GAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTC TGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTT ATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGA GAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTG TAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAAGGGCAGAGAGA AGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGA GAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGA AGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	184	0.0054	-1147	c.72+ others(17): Show c.72+61913_72+63059del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1888885	GGAGACAC others(1139): Show GGAGACACTGAGTTGGGTGAGGGTTGTGAGGAGACAGTGGGGTGAGGGGT CTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACACTGAGG TGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGGAAA CATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAGGGGTC CGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACACTGTG AGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGGAGA GCGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGTGAGGGTTGTGAG GAGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTGAATGTGGTGAGG GTTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGACACTGAGT GGGTAAGAGTTGTGAGGAGACACTGAGTGGGGTGAGGGGTATGTGAGGAG ACAGTGATGTGAGGCATCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCT GTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGG GGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTATTGAGGAG ACACTGAGTAGGGTAAGGAGTCTGTGTGGAGACACTGAGTGGGGTGAGGG GTTTGTGAGGAGACACTGAGTGTGGGTGAGGGGTCTGTGAGGAGTCATGG AGTGTGGTGTGAGTTGTGAGAAAACTCGGAGTGGGGTGAGGGTCGTGAGG AAACAGTGGGGTGAAGGTTTGTGAGGAGACCCTGAGTGGAGTGAGGGTTG CGAGGAGACATTGAGTGGGATGAGGGTTGTGAGGAGACACTGAGTGGGGT GAGGGTTGTGAGCAGACACTTCATGGGAGGAGGGTTTGTGAGAAGACACT AGGTGGGGTGAGGTTTGTGAGGAGACACTGAGTGTGGTGAGGGTTTGTGA GGAGACACTGCATGGGGTGAACTTTGTTAGGAGGCAGTGAGTGGGGCGAG GGTTGTGAGGAGACACTGAGTGGGGGAGGGGTATGTGAGGAGACACTGAG TGATGTGAGCAATCTGTGAGGAGACACTGAGTGCGGTGAGGGGTATT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0117 a0001c0003t0008g0117	1	355	0.0028	-1146	c.118 others(19): Show c.1182+3191_1183-3526del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
GXYLT1_chr12_42076845_42149874	42112735	GAACTTCC others(1139): Show GAACTTCCCCAATCCAACAAGGCAGGCCAACATTCAGATTCAGGAAATAC AGAGAACGCCACAAAGATACTCCTCAAGAAGAGCAACTCCAAGACACAGA ATTGTCAGATTCACCAAAGTTGAAATGAAGGAAGTGCAGCCAGAGAGAAA GGTCGGGTTACCCTCAAAGGGAAGCCCATCAGACTAAGGGCGGATCTCTC GGCAGAAACTCTACAAGCCAGAAGAGAGTGGGGACCAACATTCAACATTC TTAAAGAAAAGTATTTTCAACCCGGAATTTCATATCCAGCCAAACTAAGC TTCATAACTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAG AGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCAC TAAACATGGAAAGGAACAACCGGTACCAGCCACAGCAAAATCATGCCAAA ATGTAAAGACCATCAAAGCTAGGAAGAAACTACATGAACTAACGAGCAAA ATAACCAGCTAACATCGTAATGACAGGATCAGACTCACACATAACAATAT TAACCTTAAATGTAAATGGGCTAAATGCTCCAATTAAAAGACACAGACTG GCAAATTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAAC CCATCTCACGGGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGAA AGATCCACCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTA GTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAGAAGAGACAAAGA AGGCCATTACATAATGGTAAACGGATCAATTCAACAAGAAGAGCTAACTA TCCTAAATATATATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAA GTCCTTAGTGACCTACAAAGAGACTTAGACTCCCACACAATAATGGGAGA CTTTAACACCCCACTGTCAACATTGGACAGATCAACGAGACAGAAAGTTA ACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCGGACCTAATA GACATCTACAGAACTCTCCACCCCAAATCAACAGAATATACATTCTTTTC AGCACCACACCACACCTACTCCAAAATTGACCACATAGTTGGAAGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02615.hp1 others(9): Show HG02055.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG02818.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG03209.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0037 others(1): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0037 a0001c0001t0043	a0001c0001t0009g0005 a0001c0001t0009g0251 a0001c0001t0009g0252 others(7): Show a0001c0001t0009g0005 a0001c0001t0009g0251 a0001c0001t0009g0252 a0001c0001t0009g0253 a0001c0001t0009g0254 a0001c0001t0009g0255 a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0001t0037g0103 a0001c0001t0043g0100	12	396	0.0303	-1146	c.487 others(17): Show c.487-4190_487-3045del		GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	3/7						chr12	TogoVar
SCML2_chrX_18234313_18359688	18261191	TCTTGCTA others(1139): Show TCTTGCTATGTTGCCCTGGCTGGATTTGAGCTCCTGGGCTCAAGGGATCC TCCTACCTCCGCCTCCCAAAGTGCTGGGATTATAGGCATGCGCCACTGCC TGGACACAATCATGTTATTTTTCAGTACTGAATTATAATTACTGGGTTGA CCATGTCATTCTTTCACTATTTTAAAAATCTGAAATCTGAATCCTTTGTC TTGAGACATACCAAGATAGTATGTTTGCATTAACACTGCAAATTGAATAA AGGTACATTCATTAAGAAAATGTGCTCCTGCACTCCTCCCTTAAGGGGAG GAAGAAAATGACAACTTGTATCCAAATATGACATAGATCCCATAAATACA TACAAGTATTATGTATTCATAATAAAAAGTAAAAAACTTTTAAAATAATT TTTAAAAGATTAAAGTACCTGCCCCTTCTCCATCCCCATCATCAAATAAA CAATGTTTTCAAAGAGAGCTCTCCAAAATTATCAAATTAGCTTGGAACTG GAAACTAAAGGAGTCAAAGGAAACTATTTGGTGTTATCTTACATTTTCAC CATTATACCAACTAATCACAAAGACATTTCAGAAGCTGGAAAATATACAC ACATGTTAATTTTTTAATGCATTTAAAATATTATTTCACTTTAAATTTCA CTATTAACTTTTCTTACTTTTATTTTTCATTTAAAAAATTTCATCTGCTA CCATTTATATTAGAACAATCTGCCTGATTTTTTTCAATGTTCATGACTAT ATTTTTGAAATATTTAGCTTTGACTTTTGATTTTTATTTTGTAAATTTTG AGTGTTTTTAAAGAAAAATAACAGTATCAATATATTTTAAAATCACAATG TTATTTTTTTTCCATACAGCAAACATAAGTTGAAACAAAATGGAAATGTT ATAGATACTGATATCGGATGGCTGAACTCAGGAATGTGTAAGATAATACT GCTGGCATTTAATTCAGTCAGCCACAAGAGATCTGAAAAGATTCTATGTC TTTATATTTAGAGTGCATCTCTTGTAGACAGGACATATTTGGGTCTTTAA AAAAAAATCCATGTTGATAATCTCTGTCTTTTTAACTAGAAAGGATAATC CACTAACTTTTCATGCAATTACCAGTATGTTTGGATCTGGGTCTACC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02809.hp1 others(3): Show HG02109.hp1 HG02451.hp1 HG02809.hp1 HG02886.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 others(3): Show a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0233	6	242	0.0248	-1146	c.949 others(16): Show c.949-2046_949-901del		SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14						chrX	TogoVar
SLC9A9_chr3_143260222_143853468	143431639	GCCCGGCT others(1139): Show GCCCGGCTAATTTTTTGTATTTTTAATAGATATGGGGTTTTACCGTGTTA GCCAGGATGGTCTTGATCTCCCGACCTCGTGACCCAATTCTTAAAGTGAA AGGCCGAGTCCTTACAATGGCTTATAAGGCCCTGTATGATCTTCCCACCC CTCTTACTTCTCTAAACTCAGCCCCTCCTACTCTCCTACATGCTCACCCT TCAGCCTCACTGGCCCACTTGATGTTCCTCCAATTTGCCAGGTACATCTC ACCTTACAGTCTTTGCATAAGCTATTGCCACTGCTAAAATGCTCTTCCTC CTCCCAGTCTTTACTCAAGAGATAACTTCTCAGTGAGGCCTACTTGGACT ACCTAATTCAAATCACAGCCCAATCCCATCCCTATAACCCAGCCTCCATT CTCTCTTCCTCTGCTCAATTTTTTTTTCTGTACCACTTATCACCTGATAT ACTATATAATTTGCCCATTTGTTAAGCTAATTTCTCACGGCTTATTTTCT CTTGCCAAAATGAAAACACCCTGAGCACAGGCATTTTTGTTTATTTCAAA TGCTCAGAACAGTGCTTGGCACACATGTATTTGTTAAGTGTGTGAATAAA TTGATTTGTATAAGATGACTACACACCGGGTAATTACTATGTTCTAAACT CTCTCAGCTCCTGATGATGTATGTAGTGGGAACAGGCCCTGGAAAGGTTC TCAGTGCAGTAAACTCTTTGCCCATTCCAGTTACCTCAACTAGACTAGGC TCATTAATAGGCACAGGGCAAGTATTATCAAATACAGGAAAAATGAGAAC TGCAACACTGATTTCTGAAAAACTATCTCATTACAATCACATTCCTACTT CATGCAGAAAAGGAAAACTGGAACAGTTCCAGGGTTTGGAGAGCTTTACC GAGAAAAGGTTGTTAAAACAAGCAGGCTGCCCTGGAATCAGTATTTGAAG GGCTCTCTTCCCCCTAGAATGGTGGCCACCTGGCTGATCTTGCCCACATT ATTTTTTTGAGACGGAGTCTCATTCTGTTGCCAGGCTGGAGTGCAGTGGC GTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCCTCAGACTCCCAAGTAGCTCGGACTACAGGTATATACCCCCACA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	106	0.0094	-1146	c.146 others(21): Show c.1469+34252_1469+35397del		SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15						chr3	TogoVar

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