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
TMEM181_chr6_158555091_158640429	158571376	GTGATCTG others(195): Show GTGATCTGCCCGCCTTGGCCTTGTGATCTGCCCGCCTTGGCCTCCCAAAG TGCTGAGATTACAGGCCTGAGCCACCACGCCTGGCTGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCATCGTGTTGGCCAGGATGGTCTCAATCTC CTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAG GCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00738.hp1 others(30): Show HG00099.hp1 HG00140.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01975.hp1 HG01978.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG04204.hp1 HG06807.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(30): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0105 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0094 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0117 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0006g0115 a0001c0001t0009g0043 a0001c0001t0023g0130 a0001c0001t0024g0121 a0001c0001t0025g0116 a0001c0001t0027g0081 a0001c0001t0028g0123	33	188	0.1755	-202	c.9-2 others(13): Show c.9-2040_9-1839del		TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM184A_chr7_1537235_1561205	1551103	CGGTACCC others(195): Show CGGTACCCCTGCACAAGCCCAGGTGAGCCGGGAAGGAGGTGGGGGTGGGC GCAGGAGGGTTCGCGTGAGAGCCGGGCCCGCCCTGGGCGCAGGAGGGTTC GCGTGAGAGCCGGGTCCACCCGGTACCCCTGCACCAGCCCAGGTGAGCCG GGAAGGAGGTGGGGGTGGGCGCAGGAGGGTTCGGGTGAGAGCCAGGTCCG CCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03710.hp2 HG03017.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0039 a0002c0002t0027g0039	2	415	0.0048	-202	c.220 others(15): Show c.220-323_220-122del		TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8						chr7	TogoVar
TMEM63C_chr14_77176798_77264495	77235509	CGGTTATG others(195): Show CGGTTATGGGGAGACTGCAATGGGTGGGAGGATCTGGGGAGACTGTGATG GGTGGGAGGGAGCAGGGAGCCCTAGGAGACTGTGATGGGTGGGGAAGGTG TCCAGGGGGACTGCAGTGGGTGGGGGTCTGGGGAGACTGTGGTGGGTGGG GGGTCTGGGGAGACTGTGGTGGGTGGCGGGTATGGGGAGACTGTGATGGG TGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00621.hp1 others(67): Show HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02698.hp1 HG02717.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0009 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0020 a0001c0001t0032 a0001c0004t0004 a0001c0004t0008 a0001c0004t0024 a0001c0007t0001 a0001c0007t0002 a0002c0009t0001 a0002c0009t0007 a0004c0016t0003	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(65): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0002g0005 a0001c0001t0002g0060 a0001c0001t0002g0145 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0198 a0001c0001t0002g0317 a0001c0001t0003g0046 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0246 a0001c0001t0003g0288 a0001c0001t0004g0239 a0001c0001t0004g0266 a0001c0001t0005g0147 a0001c0001t0005g0177 a0001c0001t0005g0263 a0001c0001t0006g0004 a0001c0001t0006g0144 a0001c0001t0006g0176 a0001c0001t0006g0182 a0001c0001t0007g0124 a0001c0001t0007g0140 a0001c0001t0007g0142 a0001c0001t0008g0136 a0001c0001t0015g0009 a0001c0001t0020g0055 a0001c0001t0032g0052 a0001c0004t0004g0003 a0001c0004t0004g0119 a0001c0004t0004g0120 a0001c0004t0004g0123 a0001c0004t0004g0228 a0001c0004t0004g0313 a0001c0004t0008g0121 a0001c0004t0024g0003 a0001c0007t0001g0264 a0001c0007t0002g0273 a0002c0009t0001g0156 a0002c0009t0007g0160 a0004c0016t0003g0039	70	196	0.3571	-202	c.543 others(16): Show c.543-1112_543-911del		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
TPO_chr2_1408463_1548673	1531193	CCCCACAC others(195): Show CCCCACACTGTCTGCAACCACCCCAAATCGCCCCCACTGTGTGCAACCGC CTCATATTCCCCCCACTGTGTGGACCCTTCTCAAATCCCCCCTAATGTCA GCAACTTCCCTAAATCCCCCAACTGTGTTCAACCTCCCCAAATCCCTCCC ACTGTGTGCAGCCTCCCCAAATCCTCCCGACTCTGTGCAACCTCCCAAAA TTG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02257.hp1 HG01975.hp2 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0004 a0002c0002t0003g0057 a0002c0002t0002g0004 a0002c0002t0003g0057	2	126	0.0159	-202	c.261 others(19): Show c.2619-9397_2619-9196del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIP13_chr5_887884_923120	899390	TTCAGTCA others(195): Show TTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGC CAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGG ATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGG AAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATT CAG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	400	0.0025	-202	c.389 others(16): Show c.389-1098_389-897del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TWIST2_chr2_238843085_238915534	238903846	NNNNNNNN others(195): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	64	0.0156	-202	c.36 others(224): Show c.36-5996_*36-5794delNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNTinsG		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
UQCRH_chr1_46298698_46321776	46317721	CACTGGTT others(195): Show CACTGGTTACATTGAGCTATGATCACTGAGTCTGGGACACATAGTTGAGA CCCTGTATTTTTTAAAAGAAGAAGCCAGGTGAGATGGCTCACACATGTAA TCCTAGCACTTTGGGAGGCTGAGGTGGGAGGATTACTTGAGGCTGGAAGT TTGAGACCAGCATGGGCAACATAGTGAGACTCTGCCTCTACAAAAAAAAA ATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	432	0.0023	-202	c.11 others(11): Show c.1138_*1339del		UQCRH	ENSG00000173660.12	transcript	ENST00000311672.10	protein_coding					946		chr1	TogoVar
VCX3B_chrX_8459830_8471510	8468671	ATATATAT others(195): Show ATATATATAAATATTTATATTCTATATAGATTTTATATATATAAATATTT ATATTCTATATAGATGTTATATATATAAATATTTATATTCTATATAGATT TTATATATATAAATATTTATATTCTATATAGATTTTATATATATAAATAT TTATATTCTATATAGATGTTATATATATAAATATTTATATTCTATATAGA TGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	270	0.0037	-202	c.22 others(11): Show c.2289_*2490del		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					2162		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159090232	CTTGTGAC others(195): Show CTTGTGACTATCACAATCCCCAGTGACCTCAGCACAGACATGCTGGGACC ACGCACAGGGGCCACCTCCTGCGACCACTGCAATCCCCAGTGACCTCGGC ACAGACACGCTGGGACCCACGCACAGGGGCCACCTCTTGTGACCATCACA ATCCCCGGTGACCTCAGCAGAGACACACTGGGATCACGCACAGGGGCCAC CTA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	334	0.0030	-202	c.357 others(19): Show c.357+13323_357+13524del		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12						chr7	TogoVar
ZFPM1_chr16_88448280_88542031	88501182	GGGGGCCC others(195): Show GGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTG CATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTGGGT GCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00597.hp1 others(56): Show HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp2 HG03225.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18940.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18995.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0016 a0017 a0018 a0021 a0022 a0025 a0027 a0038	a0001c0001 a0001c0014 a0001c0022 others(21): Show a0001c0001 a0001c0014 a0001c0022 a0002c0002 a0002c0027 a0002c0049 a0002c0086 a0003c0003 a0003c0090 a0004c0004 a0004c0016 a0005c0007 a0006c0015 a0006c0035 a0007c0025 a0008c0048 a0016c0030 a0017c0053 a0018c0032 a0021c0056 a0022c0079 a0025c0038 a0027c0087 a0038c0052	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(31): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0014t0023 a0001c0022t0011 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0055 a0002c0002t0065 a0002c0027t0006 a0002c0049t0033 a0002c0086t0006 a0003c0003t0003 a0003c0003t0006 a0003c0090t0006 a0004c0004t0003 a0004c0004t0006 a0004c0016t0001 a0004c0016t0006 a0005c0007t0009 a0006c0015t0005 a0006c0035t0001 a0007c0025t0007 a0008c0048t0056 a0016c0030t0004 a0017c0053t0003 a0018c0032t0003 a0021c0056t0006 a0022c0079t0004 a0025c0038t0068 a0027c0087t0013 a0038c0052t0023	a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0269 others(56): Show a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0269 a0001c0001t0004g0244 a0001c0001t0005g0104 a0001c0014t0023g0197 a0001c0014t0023g0238 a0001c0022t0011g0160 a0002c0002t0004g0136 a0002c0002t0005g0031 a0002c0002t0005g0124 a0002c0002t0006g0091 a0002c0002t0011g0158 a0002c0002t0055g0152 a0002c0002t0065g0181 a0002c0027t0006g0107 a0002c0049t0033g0065 a0002c0086t0006g0049 a0003c0003t0003g0188 a0003c0003t0003g0204 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0209 a0003c0003t0003g0218 a0003c0003t0003g0227 a0003c0003t0003g0267 a0003c0003t0003g0270 a0003c0003t0003g0280 a0003c0003t0006g0079 a0003c0003t0006g0103 a0003c0003t0006g0125 a0003c0090t0006g0059 a0004c0004t0003g0211 a0004c0004t0003g0212 a0004c0004t0003g0213 a0004c0004t0003g0276 a0004c0004t0006g0023 a0004c0004t0006g0032 a0004c0004t0006g0073 a0004c0004t0006g0081 a0004c0004t0006g0128 a0004c0016t0001g0057 a0004c0016t0006g0052 a0004c0016t0006g0053 a0004c0016t0006g0058 a0005c0007t0009g0286 a0006c0015t0005g0030 a0006c0035t0001g0118 a0007c0025t0007g0093 a0008c0048t0056g0159 a0016c0030t0004g0245 a0017c0053t0003g0224 a0018c0032t0003g0210 a0018c0032t0003g0221 a0021c0056t0006g0130 a0022c0079t0004g0259 a0025c0038t0068g0007 a0027c0087t0013g0062 a0038c0052t0023g0196	59	314	0.1879	-202	c.268 others(19): Show c.268+12068_268+12269del		ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
AHNAK_chr11_62510902_62551806	62528495	CCCTTTCA others(194): Show CCCTTTCAACTTTGCATCAGGACACTCCAGCTCAACATCAGGCACCTCCA CACCCACACTGGGACCTGTTAAATCTCCCTCCAATTTTGGCACCGACACA TCCACATCCCCTTTGACTTTGGGGCCTTTCAAGTGTAAGTCCACATCAGG CATGGAGATCTTGGGGGCCTTGAAGTGCATGTCTGGCATCTTAAATTTAG GG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01074.hp2	a0019 a0019	a0019c0042 a0019c0042	a0019c0042t0001 a0019c0042t0001	a0019c0042t0001g0060 a0019c0042t0001g0060	1	184	0.0054	-201	c.572 others(9): Show c.5721_5921del	p.Pro others(15): Show p.Pro1908_Gly1974del	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6167/18761	5721/17673	1907/5890			chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1888131	TTGCGAGG others(194): Show TTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGG GGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGAC AGTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGTTC TGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTG AC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02074.hp2 NA18942.hp1 others(4): Show HG01952.hp1 HG02074.hp2 NA18942.hp1 NA18960.hp2 NA18995.hp1 NA19082.hp2 NA19087.hp2	a0002 a0002	a0002c0025 a0002c0028 a0002c0033 others(4): Show a0002c0025 a0002c0028 a0002c0033 a0002c0034 a0002c0079 a0002c0082 a0002c0151	a0002c0025t0050 a0002c0028t0001 a0002c0033t0002 others(4): Show a0002c0025t0050 a0002c0028t0001 a0002c0033t0002 a0002c0034t0010 a0002c0079t0001 a0002c0082t0001 a0002c0151t0001	a0002c0025t0050g0174 a0002c0028t0001g0201 a0002c0033t0002g0012 others(4): Show a0002c0025t0050g0174 a0002c0028t0001g0201 a0002c0033t0002g0012 a0002c0034t0010g0135 a0002c0079t0001g0048 a0002c0082t0001g0261 a0002c0151t0001g0011	7	362	0.0193	-201	c.118 others(19): Show c.1182+2427_1182+2627del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888146	TAGTGGGG others(194): Show TAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTTGCGA GGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGTGGTGAG GGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGTTCTGAGGAGGGGTGGGG TGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTGACTGTGAGGAGACAC TG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0357 a0001c0002t0008g0357	1	346	0.0029	-201	c.118 others(19): Show c.1182+2447_1182+2647del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARSF_chrX_3036471_3117727	3116340	CCAAACAT others(194): Show CCAAACATCGTATGTTCTCACTCATAAGTGGGAGCTAAGCTATGAGGATG CAAAGGCCTAAGAGTGACACAGTGGACTCTGGGGACTCTGGAGGAAAGGG TGGGAAGGGGGTGAGGGATAAAAGACTACAAATTGAGTGCAGTGTATACT GCTCAGTGATGGGTGCACCAAAATCTCACATATCACCACTGAAGAACTTA CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG00741.hp2 others(57): Show HG00597.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01358.hp1 HG01943.hp1 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG04115.hp1 NA18943.hp1 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18971.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19074.hp1 NA19083.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0007 others(11): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0015 a0001c0019 a0003c0008 a0003c0013 a0004c0006 a0006c0018 a0007c0021 a0008c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0007t0003 a0001c0009t0001 a0001c0010t0001 a0001c0012t0001 a0001c0015t0006 a0001c0019t0001 a0003c0008t0001 a0003c0013t0001 a0004c0006t0001 a0006c0018t0002 a0007c0021t0001 a0008c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0020 others(55): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0004g0113 a0001c0001t0005g0077 a0001c0002t0001g0022 a0001c0002t0001g0067 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0007t0003g0031 a0001c0007t0003g0182 a0001c0009t0001g0016 a0001c0009t0001g0018 a0001c0010t0001g0033 a0001c0010t0001g0040 a0001c0012t0001g0089 a0001c0015t0006g0021 a0001c0019t0001g0095 a0003c0008t0001g0115 a0003c0013t0001g0098 a0004c0006t0001g0008 a0004c0006t0001g0009 a0004c0006t0001g0130 a0006c0018t0002g0131 a0007c0021t0001g0174 a0008c0020t0001g0104	60	191	0.3141	-201	c.37 others(11): Show c.3785_*3985del		ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding					3614		chrX	TogoVar
ATP11A_chr13_112685038_112892168	112804104	CCCTCCTT others(194): Show CCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC TTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCC TCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCC CTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTT TT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02922.hp2 others(3): Show HG02572.hp2 HG02717.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0042 a0001c0001 a0001c0002 a0001c0042	a0001c0001t0001 a0001c0001t0021 a0001c0001t0069 others(3): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0069 a0001c0002t0015 a0001c0002t0041 a0001c0042t0046	a0001c0001t0001g0152 a0001c0001t0021g0094 a0001c0001t0069g0093 others(3): Show a0001c0001t0001g0152 a0001c0001t0021g0094 a0001c0001t0069g0093 a0001c0002t0015g0163 a0001c0002t0041g0212 a0001c0042t0046g0148	6	249	0.0241	-201	c.163 others(15): Show c.163-845_163-645del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	83003553	GTCCGCGT others(194): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAGCCCACCCTCCCACTCTCTGCAGTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCATGTGGGATTCCTGAGCCCGCCCTCCCGC CC	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19090.hp1 NA19004.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0132 a0001c0002t0002g0082 a0001c0002t0002g0132	2	250	0.0080	-201	c.459 others(17): Show c.459+1361_459+1561del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467453	GTGGTGGT others(194): Show GTGGTGGTGGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGAT GATGGTGATGGTACTGGTGGTGATGGTGATGGTGATGGTACTGGTGATGG TGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGAT GA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	250	0.0040	-201	c.487 others(17): Show c.487+1078_487+1278del		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
CAMK1D_chr10_12344547_12840545	12775919	AGGTGAGA others(194): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG03579.hp2 others(1): Show HG02258.hp1 HG02280.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0008 a0001c0002t0061 a0001c0001t0035 a0001c0002t0008 a0001c0002t0061	a0001c0001t0035g0106 a0001c0001t0035g0145 a0001c0002t0008g0153 others(1): Show a0001c0001t0035g0106 a0001c0001t0035g0145 a0001c0002t0008g0153 a0001c0002t0061g0033	4	214	0.0187	-201	c.565 others(17): Show c.565+6122_565+6322del		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK1_chr17_3855315_3898053	3867988	CACCGTCT others(194): Show CACCGTCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAA CTGATACACAGGATCTGGGGGAGAAGCAGGCGCAGTCTAACTGATACGTG GGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGG GAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGG CG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00735.hp1 others(22): Show HG00140.hp1 HG00423.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01167.hp2 HG01255.hp1 HG01261.hp1 HG01884.hp2 HG02027.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02451.hp2 HG02622.hp2 HG02723.hp2 HG02896.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp1 NA18612.hp1 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(16): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0032 a0001c0002t0038 a0001c0002t0049 a0001c0002t0063 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0013 a0001c0003t0026 a0001c0003t0029 a0001c0004t0006 a0001c0004t0065 a0002c0001t0005 a0002c0001t0006 a0002c0001t0047	a0001c0002t0003g0312 a0001c0002t0004g0096 a0001c0002t0004g0134 others(22): Show a0001c0002t0003g0312 a0001c0002t0004g0096 a0001c0002t0004g0134 a0001c0002t0004g0143 a0001c0002t0006g0196 a0001c0002t0032g0023 a0001c0002t0038g0081 a0001c0002t0049g0338 a0001c0002t0063g0406 a0001c0003t0001g0252 a0001c0003t0001g0301 a0001c0003t0002g0073 a0001c0003t0005g0146 a0001c0003t0006g0298 a0001c0003t0006g0354 a0001c0003t0013g0052 a0001c0003t0026g0368 a0001c0003t0026g0387 a0001c0003t0029g0399 a0001c0004t0006g0276 a0001c0004t0065g0412 a0002c0001t0005g0074 a0002c0001t0006g0225 a0002c0001t0006g0230 a0002c0001t0047g0389	25	288	0.0868	-201	c.134 others(19): Show c.1341+1298_1341+1498del		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15						chr17	TogoVar
CBFA2T3_chr16_88869858_88982207	88951011	GCCTGGAC others(194): Show GCCTGGACCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCC GGATCTGTTCACCCCTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGT GTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCCCCTGGATCGGCACCG GCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGT CC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG01071.hp2 others(6): Show HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01361.hp2 HG02486.hp2 HG02698.hp2 HG02922.hp1 HG03834.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0020	a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0242 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0242 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0016g0081 a0001c0001t0020g0259	9	230	0.0391	-201	c.151 others(19): Show c.151+25445_151+25645del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CCDC127_chr5_191868_223153	209082	CAGGACTC others(194): Show CAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACA CATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTT CGCAGCCTGGCCACACACATCATTCCACAACACATAGGACTCCCCCACAA ACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACAC AT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01256.hp2 others(7): Show HG00639.hp2 HG01123.hp2 HG01256.hp2 HG01516.hp1 HG01517.hp1 HG03490.hp1 HG03492.hp2 NA18941.hp1 NA19064.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0003 a0001c0001t0001g0096 a0001c0001t0001g0100	10	97	0.1031	-201	c.122 others(17): Show c.122-3325_122-3125del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
CHCHD6_chr3_126699240_126965420	126862736	CCTCCACC others(194): Show CCTCCACCATCACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCTCC ACCATCACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCAC CATCACCACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTA CCTCCTCCTCCTCCACCATCACCACCTCCTCCTCCTCCACCATCACCACC TT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01123.hp1 others(24): Show HG00323.hp1 HG00408.hp2 HG01123.hp1 HG01255.hp1 HG02004.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02809.hp1 HG03704.hp1 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19068.hp2 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(24): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0074 a0002c0002t0002g0094	27	213	0.1268	-201	c.495 others(19): Show c.495+10008_495+10208del		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
DHRS12_chr13_51762993_51809163	51775243	CCTACAGT others(194): Show CCTACAGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTA CAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTC CTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCT CCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	412	0.0024	-201	c.364 others(17): Show c.364-1410_364-1210del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775518	CCTACAGT others(194): Show CCTACAGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTA CAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTC CTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCT CCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	415	0.0024	-201	c.363 others(17): Show c.363+1341_364-1485del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DICER1_chr14_95081228_95162529	95125562	AGAGGGGA others(194): Show AGAGGGGAAAGGTGGGGGAAGGGGAGGAGGAGGGGAGAGGAAGAGAGGGA GAAGGGGAGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGAGGAGGCAGAGA TGGGGGGAGGAGGGAGGGGACAGGGAGGGGGAGGAGGGAGGGGAGAGGGA GGAGGAGGGGAGGAAGAGGGGGAGGGGAGGAAGACAGGGAGGGGAGGAGG GG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01496.hp2 others(14): Show HG01109.hp1 HG01256.hp1 HG01496.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02818.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0007 a0001c0001t0026 a0001c0010t0007 a0001c0001t0007 a0001c0001t0026 a0001c0010t0007	a0001c0001t0007g0009 a0001c0001t0007g0017 a0001c0001t0007g0020 others(10): Show a0001c0001t0007g0009 a0001c0001t0007g0017 a0001c0001t0007g0020 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0071 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0026g0070 a0001c0010t0007g0069	17	304	0.0559	-201	c.903 others(15): Show c.903+817_904-895del		DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	7/26						chr14	TogoVar
ENTPD8_chr9_137429364_137446357	137441025	CAGACCAG others(194): Show CAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGC CCCCCAGACCAGGACAGCCCCCCCAGACCAGGACACCCCCTCAGACAGAA CAGTCCCCCAGACCAGGACAGCCCCCCCAGACCAGGACAGCCCCCCAGAC CAGGACAGCCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCC CA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	390	0.0026	-201	c.-21 others(14): Show c.-21+60_-21+260del		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
EPHA3_chr3_89102621_89487134	89196471	CTTATAGA others(194): Show CTTATAGAGTCACTAGTGCATAACAGGTGTTTGATAAATATGTGTTGAGT TAGTCAATGAAAGATCAACTTCATCTCTCACTGCAGCTGCCCAGTGATGT CCAAACTCAGTTGGAATTTTGGGGGTTTTATGCCTTTTTCCATATCATTT CACCTGCTCGGAATGTGCTCATCCTCCTTCTTCCTCCTCATCTATTTTCA CT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02615.hp1 HG02647.hp1 others(2): Show HG01952.hp2 HG02615.hp1 HG02647.hp1 HG02976.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 others(2): Show a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0072 a0002c0002t0002g0073	5	198	0.0253	-201	c.154 others(19): Show c.154-13388_154-13188del		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16						chr3	TogoVar
ERC1_chr12_986223_1500931	1085039	AGATTACA others(194): Show AGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTG TTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA TTATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAAT ATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCT GC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(17): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01993.hp2 HG02129.hp1 HG02155.hp2 HG02735.hp1 HG03669.hp1 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0009	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0030 a0001c0001t0032 a0001c0001t0042 a0001c0001t0048 a0001c0003t0006 a0002c0002t0012 a0002c0002t0029 a0002c0002t0050 a0009c0009t0012	a0001c0001t0003g0035 a0001c0001t0005g0109 a0001c0001t0005g0111 others(17): Show a0001c0001t0003g0035 a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0005g0118 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0007g0084 a0001c0001t0012g0112 a0001c0001t0030g0159 a0001c0001t0032g0129 a0001c0001t0042g0085 a0001c0001t0048g0083 a0001c0003t0006g0114 a0002c0002t0012g0115 a0002c0002t0029g0117 a0002c0002t0050g0138 a0009c0009t0012g0110	20	160	0.1250	-201	c.108 others(19): Show c.1086+1490_1086+1690del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914541	CGTCTTTC others(194): Show CGTCTTTCCCTCCCCTTCCACCATCTCTGTCTCCGTCTCTCCCTCCCTTT CCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCT CCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGT CTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCT CT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	324	0.0031	-201	c.-13 others(17): Show c.-13-1810_-13-1610del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914546	TTCCCTCC others(194): Show TTCCCTCCCCTTCCACCATCTCTGTCTCCGTCTCTCCCTCCCTTTCCACC ATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTC CCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTC CCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTC TC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	302	0.0033	-201	c.-13 others(17): Show c.-13-1815_-13-1615del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914563	ATCTCTGT others(194): Show ATCTCTGTCTCCGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTC CCCTTCCACCATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCTG TCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATC TCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCAC CG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01243.hp1 others(9): Show HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02273.hp2 HG02300.hp2 NA18944.hp1 NA18945.hp1 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0002c0003t0015	a0001c0001t0001g0001 a0001c0001t0003g0009 a0001c0001t0003g0198 others(5): Show a0001c0001t0001g0001 a0001c0001t0003g0009 a0001c0001t0003g0198 a0001c0001t0003g0221 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0002t0002g0122 a0002c0003t0015g0250	12	317	0.0379	-201	c.-13 others(17): Show c.-13-1832_-13-1632del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
FLT4_chr5_180596506_180654600	180617928	CCCAGAGC others(194): Show CCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTAT TCCAGAGTACCCTCTCCTGCCACTCAGCCTCTGGGACACCCACATCCTAC TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTAC TCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTA TT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG03139.hp1 HG02647.hp2 HG02886.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0001 a0002c0012t0001 a0002c0012t0021 a0002c0003t0001 a0002c0012t0001 a0002c0012t0021	a0002c0003t0001g0369 a0002c0012t0001g0053 a0002c0012t0021g0175 a0002c0003t0001g0369 a0002c0012t0001g0053 a0002c0012t0021g0175	3	388	0.0077	-201	c.300 others(17): Show c.3001+641_3001+841del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29						chr5	TogoVar
FTCD_chr21_46131779_46160579	46140283	ACAGGGAA others(194): Show ACAGGGAATGTAAATCAACCCAGCCCTCCCCGTCCACCTTCGCATTGCTC AGAGGGAGTGTAAACCAACCCAGCACTCCCCCGTCCACCTTCACGTGGCT CACAGGGAGTGTAAACCAATCCAGCACTCCCCGTCCACCTTCGCGTGGCT CACAGGGAGTGTAAACCAACCCAGCACTCCTCGTCCACCTTCACATTGTT CG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0184 a0001c0002t0001g0125 a0001c0002t0001g0184	2	224	0.0089	-201	c.126 others(19): Show c.1261-1561_1261-1361del		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13						chr21	TogoVar
GALNT9_chr12_132191372_132334589	132212599	CGACACGG others(194): Show CGACACGGAAACCCCACCCGGGTCTAGCAGCCCTCAGACCTCGACACAGA AACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCC GGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAG CCCTCAGACCGTGACATGGAAACCCCACCCGGGTCTGCAGCCCTCAGACC GT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18999.hp2 NA19070.hp1 HG01928.hp1 NA18999.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0013 a0001c0001 a0001c0011 a0001c0013	a0001c0001t0001 a0001c0011t0001 a0001c0013t0004 a0001c0001t0001 a0001c0011t0001 a0001c0013t0004	a0001c0001t0001g0101 a0001c0011t0001g0116 a0001c0013t0004g0036 a0001c0001t0001g0101 a0001c0011t0001g0116 a0001c0013t0004g0036	3	179	0.0168	-201	c.107 others(19): Show c.1078-9110_1078-8910del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GGTLC2_chr22_22639614_22652898	22641953	TGAGACTG others(194): Show TGAGACTGTCTCAAAAGGAATAAAAAAAATACAAAATAAAAAAAATGTAG TAAGATGGCAGAGTCGTGCCGCGGAAGCGTGCTGGTCCTATCCATGTAGT GAAGGCTGATTTCATACAGAAATGTCACAAGAACTTTTTTTCTTTTTCTT TTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGC GC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	410	0.0024	-201	c.-27 others(11): Show c.-2789_-2589del		GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding					2660		chr22	TogoVar
GRM7_chr3_6856115_7746533	7669866	GTTCCATT others(194): Show GTTCCATTTAGAGGCATGGACTGAATGACTACTTGTTTACACTTTTGTCA ACAGTGCAACAGTGTCATTTCAATTATTTGCTCTTCTTGGGCTTAAACCA TTAAATAGCAGAGGGGCGTAATGAGGGGTTTTGAGTGCACAGTCACCCCA ATGGGCAATTCAACTAGCCTAGGTTCCAGCTGTTGAAGTGATTTGCCCAT CA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp1 HG06807.hp1 others(1): Show HG03195.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0003t0004 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0003t0004 a0001c0004t0003	a0001c0001t0003g0006 a0001c0001t0005g0072 a0001c0003t0004g0061 others(1): Show a0001c0001t0003g0006 a0001c0001t0005g0072 a0001c0003t0004g0061 a0001c0004t0003g0079	4	80	0.0500	-201	c.245 others(20): Show c.2452-10181_2452-9981del		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132161929	TCCACTTC others(194): Show TCCACTTCCAACAGGAAGGCCCCCTTGTTTGGGATGCTCCGAGTTTTCTG AGTTCACTGTTGATTTCCTTCCCTTTCCCTGCACACTCGCCCGGTTCTCT CCTATGTCGTTCATGGTGTGGCTCTCGGTCGCTCGGGTGCCCTCAGGTGA CCCACAGGCCTGTGAGCACCGAGGTTTTTTTCTGCACTTCCTGCTCTGCT TC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0038 a0002c0004t0004g0038	1	156	0.0064	-201	c.222 others(19): Show c.2221-1279_2221-1079del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23						chr10	TogoVar
LAMA5_chr20_62304065_62372312	62360431	GGGTGAGT others(194): Show GGGTGAGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGA TAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGG AGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGATGGGTG GGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGGTGGGTGGAGGGA TA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG00140.hp2 HG01496.hp1	a0015 a0015	a0015c0051 a0015c0053 a0015c0051 a0015c0053	a0015c0051t0001 a0015c0053t0001 a0015c0051t0001 a0015c0053t0001	a0015c0051t0001g0060 a0015c0053t0001g0061 a0015c0051t0001g0060 a0015c0053t0001g0061	2	151	0.0132	-201	c.450 others(17): Show c.450+1768_450+1968del		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
MAEA_chr4_1284891_1345137	1295951	GCCCGCAC others(194): Show GCCCGCACCTGTGCCCCCCTCACCCACGTCTGCACTGCCCTCACCTGTGC TGCCCTCACCTGTGCCCCCCACCTGTGCCTGTGCCCCCCTCACCTGCTCC TCCCTCACCTGCTCCTCCCTCACCTGCTCCTGCACCACCTTCACGTGCGC CCCCCACCTACATCTGCACCTCACCTATGCTACCCTCACCTGTGCCCCCC CA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01109.hp1 others(49): Show HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01358.hp1 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02071.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA18964.hp2 NA18967.hp2 NA18974.hp2 NA18982.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0004t0008 a0001c0007t0005 a0001c0014t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(49): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0013g0154 a0001c0002t0001g0059 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0004t0008g0312 a0001c0004t0008g0363 a0001c0007t0005g0012 a0001c0014t0001g0291	52	141	0.3688	-201	c.69+ others(15): Show c.69+6194_69+6394del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MC1R_chr16_89913862_89925972	89914313	GTGTGTGC others(194): Show GTGTGTGCGCCTGTGTGGGTGCACATTTGTGTGTGTGTGTGCCTGTGTGT GTGCCTGTGTGTGTGGGTGCCTGTGTGTGTGGGGCACATTTGTGTGTGTG TGTGCCTGTGTGTGGGTGCACATTTGTGTGTGTGCCTCTGTGTGTGTGCC TGTGTGTGGGGGTGCACATTTGTGTGTGCGCCTGTGTGTGGGGGTGCACA TT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	394	0.0025	-201	c.-49 others(11): Show c.-4945_-4745del		MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding					4548		chr16	TogoVar
MIER2_chr19_300573_349796	300812	AGAGACTG others(194): Show AGAGACTGTGGGTCACCCAGGGCCGTGACACCAGTGACTGGAGAGACTGT GGGTCACCCAGGGCCGTGACACCAGTGACTGCAGAGACTGTGGGACACCC ATGGCCGTGACACCAGTGACTGGAGACTGTGGGACACCCATGGCCGTGAC ACCAGTGACTGGAGAGACTGTGGGTCACCCAGGGCCGTGACACCAGTGAC TG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02109.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0013 a0001c0014t0002 a0001c0001t0013 a0001c0014t0002	a0001c0001t0013g0313 a0001c0014t0002g0033 a0001c0001t0013g0313 a0001c0014t0002g0033	2	382	0.0052	-201	c.56 others(11): Show c.5677_*5877del		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding					4760		chr19	TogoVar
NDUFAF2_chr5_60940205_61158026	61045051	ATAAAGTA others(194): Show ATAAAGTAAAATAAAGTTTTATTAAAATTTAATAAAATAAAATAAAGTTT TATTAAAATTTAATAAAATAAAATAAAGTTTTATTAAATTTTAATAAAAT AAAATAAAGTTTTATTAAATTTTAATAAAATAAAATAAAGTTTTATTAAA TTTTAATAAAATAAAATAAAGTTTTATTAAATTTTAATAAAATAAAATAA AG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	232	0.0043	-201	c.128 others(19): Show c.128-28072_128-27872del		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCA_chr17_66297613_66815743	66798497	GTGGTGGT others(194): Show GTGGTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0043 a0001c0002t0008g0043	1	159	0.0063	-201	c.185 others(19): Show c.1855-5363_1855-5163del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798540	CGGTGGTG others(194): Show CGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTG GT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0046 a0001c0004t0046	a0001c0004t0046g0159 a0001c0004t0046g0159	1	92	0.0109	-201	c.185 others(19): Show c.1855-5319_1855-5119del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799367	GTGGTGGT others(194): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTA ATGGTGGTGGTGATGGTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGT GA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0030 a0001c0003t0008g0030	1	173	0.0058	-201	c.185 others(19): Show c.1855-4491_1855-4291del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKG1_chr10_51069487_52303350	51858123	ATATTATA others(194): Show ATATTATATATATACATATTATACATATATATAATATATATTATATATAT ACATATTATACATATATATAATATATATTATATATATACATATTATACAT ATATATAATATATATTATATATAATACATATTATACATATATATAATATT ATACATATGTATAATTATACATATGTATAATATATATATGTATAATATGT AT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG03130.hp1 others(2): Show HG02622.hp2 HG02886.hp2 HG03130.hp1 HG03834.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0002t0001 a0001c0006t0007	a0001c0001t0002g0043 a0001c0001t0008g0027 a0001c0001t0014g0032 others(2): Show a0001c0001t0002g0043 a0001c0001t0008g0027 a0001c0001t0014g0032 a0001c0002t0001g0017 a0001c0006t0007g0050	5	64	0.0781	-201	c.699 others(19): Show c.699-49380_699-49180del		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
RASA3_chr13_113972783_114137623	114103483	CTGACACC others(194): Show CTGACACCGGAGCCCGAGTCTCGGCTCAGCACCACCACCCCCGATGCGTC CACACTGCCACGGCCACAGACACCCACCCCCGATGCGTCCATGCTGCCAC AGCCACGGACACCCACCCCCGATGCGTCCACACTGCCGCCGACCACAGAC ACCCACCCCTGATGCGTTCACACTGCCCCCGGCCACAGACACCCACCCCT GA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	66	0.0152	-201	c.55+ others(17): Show c.55+28751_55+28951del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RNF13_chr3_149808215_149967139	149837700	TCCCTCCC others(194): Show TCCCTCCCACAACACATGGGAATTCAAGATGAGATTTGGGTGAGGACACA GCCAAACCATGTCATTCTGCCCTGGCCCCTCCCAAATCTCATGTCCTCAT ATTTCAAAACCAATCATGCCTTCCAAAAGTCCCCCAAAGTCTTAATTCAT TTCAGCATTAACTCAAAAGTCCACATTCCAATGTCTCATCTGAGACAAGG CA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0237 a0001c0002t0003g0237	1	278	0.0036	-201	c.-16 others(17): Show c.-16-8310_-16-8110del		RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	1/9						chr3	TogoVar
RNF213_chr17_80255852_80403794	80314601	ATGGTGGT others(194): Show ATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGT GGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGG TACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATG GTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGAT GG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0017 a0017	a0017c0108 a0017c0108	a0017c0108t0003 a0017c0108t0003	a0017c0108t0003g0083 a0017c0108t0003g0083	1	246	0.0041	-201	c.281 others(19): Show c.2811+1443_2811+1643del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	253798	ATCCCTAG others(194): Show ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTC CG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	112	0.0089	-201	c.439 others(17): Show c.439-6714_439-6514del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar

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