Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NEU4_chr2_241804193_241822413	241805563	CCCCTCAG others(470): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01975.hp1 HG01517.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0002 a0001c0002t0001g0004	2	298	0.0067	-477	c.-37 others(11): Show c.-3714_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3629		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805785	CTCCCCCC others(470): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	2	307	0.0065	-477	c.-34 others(11): Show c.-3492_-3016del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3407		chr2	TogoVar
PCGF3_chr4_700832_775089	758860	CTTCTCCT others(470): Show CTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCG CGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCC GCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTC CCCGCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTT CTCCCCGCGCGGCCCCTCTCCCGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	321	0.0031	-477	c.463 others(17): Show c.463-2315_463-1839del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PIERCE1_chr9_135490181_135504869	135491378	GCTGCATC others(470): Show GCTGCATCCCATGAATACGGGCCCGGCGCCGCTGTGGGAGTAAGTAGATG TGTGCCCGCCCTGTAGGAGTCTCCGGCGGACAGTGTGTCAGTAAGTCAAG CTCTTTGCAAGTCTGTAATTATTAAGACCTAGAGGTAAGTCATGTCCCAA GAGCCCCTCTCTTCCCAGGGAGTAGGGCCAGGGTCCATTTCATCCAATAC AAATAATCGGGAGAGGCCAGGTTTTAAGGTTTCTCGTCCTCTGGGATGAG TCAGCCTGATGTCGGGGAACGGGGATGGGAAAAGGAAAAAGCTCTGGCGG GTCATGTCTGATATTCTCCACCCACCTCCCTATGTAGGGGGAGAAGCTTC CTTTAAGGAAGAGTCCCCCTTAATTTATCTGTCGCTCAGAATCTGAAGGC TCAGACAGCAGATTTTCCCAGCTTGAGATATATTTGCTTTGGAAAATCAA GCAGTACATGTAATTATTAGCACCTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	420	0.0024	-477	c.35 others(11): Show c.3572_*4048del	PIERCE1	ENSG00000160345.13	transcript	ENST00000429260.7	protein_coding		3802		chr9	TogoVar
PPP1R26_chr9_135474782_135493892	135491378	GCTGCATC others(470): Show GCTGCATCCCATGAATACGGGCCCGGCGCCGCTGTGGGAGTAAGTAGATG TGTGCCCGCCCTGTAGGAGTCTCCGGCGGACAGTGTGTCAGTAAGTCAAG CTCTTTGCAAGTCTGTAATTATTAAGACCTAGAGGTAAGTCATGTCCCAA GAGCCCCTCTCTTCCCAGGGAGTAGGGCCAGGGTCCATTTCATCCAATAC AAATAATCGGGAGAGGCCAGGTTTTAAGGTTTCTCGTCCTCTGGGATGAG TCAGCCTGATGTCGGGGAACGGGGATGGGAAAAGGAAAAAGCTCTGGCGG GTCATGTCTGATATTCTCCACCCACCTCCCTATGTAGGGGGAGAAGCTTC CTTTAAGGAAGAGTCCCCCTTAATTTATCTGTCGCTCAGAATCTGAAGGC TCAGACAGCAGATTTTCCCAGCTTGAGATATATTTGCTTTGGAAAATCAA GCAGTACATGTAATTATTAGCACCTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	1	460	0.0022	-477	c.32 others(11): Show c.3239_*3715del	PPP1R26	ENSG00000196422.11	transcript	ENST00000356818.7	protein_coding		2487		chr9	TogoVar
PPP4R2_chr3_72991811_73074198	73013926	CCACCGCG others(470): Show CCACCGCGCCCGGGCTTGTATTTGGATATCTTACCAAAACACAAAAATTT ACCTCGTTGTCTTCATGGGCTGCATAATATTTTATTGTTTTGGGTGTTCT TTATTTAACCTGTCTTCTTTGATGGTTTTTTGGGCAGTTTACAGTTACCA ACCAATTCAAACAGTGCTTAAGTTAATATACTGGCACAGATGTAAGAGTG GGATTTATGGGTTCATGATTATGTACGTTACTATGTTTGACAGATACTGC CAGCTGGCTTTCCAAAAAACTTGTTCAGTATGTGCTTCTACTAGCAGTAT ATGAAAGTTATCTCTATATCCATGTTAGCACCAAGCATTATTCAGATTTT AAAATTATTTTTATTTTTATATTTATTTTTGAGACCGGGTCTCACTCTGG CCCAGGCTGGAGTGCAGTGGCATGATCATAGCTTACTGCAACCTCAAACT CCTAGGCTCAAGTGATTTTCCCACCTGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00741.hp2 others(62): Show HG00140.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18943.hp1 NA18947.hp2 NA18960.hp2 NA18984.hp1 NA19058.hp2 NA19068.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0005c0006t0026	a0001c0001t0003g0129 a0001c0001t0004g0127 a0001c0001t0004g0128 others(62): Show a0001c0001t0003g0129 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0151 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0180 a0001c0001t0007g0133 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0007g0146 a0001c0001t0007g0171 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0190 a0001c0001t0008g0106 a0001c0001t0008g0132 a0001c0001t0008g0136 a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0147 a0001c0001t0008g0152 a0001c0001t0008g0158 a0001c0001t0008g0162 a0001c0001t0008g0179 a0001c0001t0024g0140 a0001c0001t0024g0153 a0001c0001t0024g0154 a0001c0001t0025g0176 a0001c0001t0025g0177 a0001c0001t0025g0178 a0001c0001t0026g0174 a0001c0001t0026g0185 a0001c0001t0034g0144 a0001c0001t0034g0145 a0001c0001t0035g0148 a0001c0001t0035g0149 a0001c0001t0036g0150 a0001c0001t0036g0192 a0001c0001t0054g0175 a0001c0001t0056g0186 a0001c0001t0057g0135 a0001c0001t0058g0182 a0005c0006t0026g0173	65	358	0.1816	-477	c.116 others(19): Show c.116+15769_116+16245del	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8			chr3	TogoVar
PXMP4_chr20_33697758_33725310	33699535	GGCCGCCC others(470): Show GGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCTGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAATGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAATGAGGAGCCCCTCTGCCCGGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	386	0.0026	-477	c.76 others(11): Show c.7694_*8170del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3222		chr20	TogoVar
RAP1GAP2_chr17_2791438_3042741	3031425	GTCCCTTC others(470): Show GTCCCTTCCTGAGCTCTCCAGACTATCGAGAGCTCCAGGTCCAGATGTGA GGTGGAAGGTGCTGGTTCCTGGGTCCCCCAGTCCCTTTCTGAGCTCGCCA GACTATGGAGAACTCCAGGTCCAGATGTGAGGTGGGAAGGGCTGGTTCCT GGGTCCCGAATCCCTTCCTGAGCTCACCAGACTATCAAGAGCTCCAGGTC CAGATGTGAGGTGAGAAAGGCTGGTTCCTGGGTCCCCCAGTCCCTTTCTG AGCTCGCCAGACTATCGAGAACTCCAGGTCCAGATGTGAGGTGGGAAGGG CTGGTTCCTGGGTCCCGAATCCCTTCCTGAGCTCACCAGACTATCGAGAG CTCCAGGTCCAGATGTGAGGTGGGAAGGGCTGGTTCCTGGGTCCCCCAGT CCCTTCCTGAGCTCTCCAGACTATCGAGAGCTCCAGGTCCAGATGTGATG TGGGAAGGGCTGGTTCCTGGGTCCCGAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG02015.hp1 others(20): Show HG00544.hp2 HG00609.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02886.hp1 HG03209.hp1 HG03486.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18990.hp2 NA18999.hp1 NA19066.hp1 NA19085.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 others(18): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036 a0001c0001t0038 a0001c0001t0066 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0122 a0001c0001t0125 a0001c0005t0023 a0001c0005t0105 a0001c0005t0120 a0002c0008t0005 a0002c0008t0074	a0001c0001t0001g0134 a0001c0001t0008g0086 a0001c0001t0018g0181 others(20): Show a0001c0001t0001g0134 a0001c0001t0008g0086 a0001c0001t0018g0181 a0001c0001t0018g0194 a0001c0001t0019g0043 a0001c0001t0021g0172 a0001c0001t0022g0107 a0001c0001t0022g0180 a0001c0001t0023g0047 a0001c0001t0036g0165 a0001c0001t0038g0190 a0001c0001t0066g0038 a0001c0001t0080g0048 a0001c0001t0081g0145 a0001c0001t0082g0023 a0001c0001t0084g0175 a0001c0001t0122g0207 a0001c0001t0125g0037 a0001c0005t0023g0111 a0001c0005t0105g0212 a0001c0005t0120g0147 a0002c0008t0005g0195 a0002c0008t0074g0033	23	216	0.1065	-477	c.218 others(17): Show c.2184+443_2185-494del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
SNTG2_chr2_945849_1372613	1093930	ATAGGTGT others(470): Show ATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGG ACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGG CAAGGGCCAGCTTCCTGGCTTGCAGGCGAAGGCCTTATAGGTGTGTCCTC ATATGGTAGAGTTACTGGCAAAGGGCTGCCTTCCTGGCTTGCAGGCGAAG GCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTT CCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTT ACTGGCAAGGGCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTG TCCTCATATGGTAGAGTTACTGGCAAGGGCCGGCTTCCTGGACTGCAGGC GAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTG GCTTCCTGGACTGCAGGCGAAGGCCTTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02071.hp1 HG03490.hp2 HG00735.hp1 HG02071.hp1 HG03490.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0008 a0004c0014 a0002c0003 a0003c0008 a0004c0014	a0002c0003t0001 a0003c0008t0001 a0004c0014t0001 a0002c0003t0001 a0003c0008t0001 a0004c0014t0001	a0002c0003t0001g0174 a0003c0008t0001g0096 a0004c0014t0001g0054 a0002c0003t0001g0174 a0003c0008t0001g0096 a0004c0014t0001g0054	3	188	0.0160	-477	c.211 others(17): Show c.211-4227_211-3751del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM18_chr2_658877_682406	671353	CCCTCCTG others(470): Show CCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAG GCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGA GAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGA GGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCG GGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCAT CCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTG CATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCC CTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAG GCCCTGCATCCGGGAGGAGAGGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0133 a0001c0001t0053g0133	1	200	0.0050	-477	c.233 others(16): Show c.233+978_233+1454del	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM232_chr5_110414496_110731671	110482526	AGCCGAGA others(470): Show AGCCGAGATTGCGGCACTGCACTCCAGCCTGGGCGACAAGAGTGAAACTC CATCTCAAAAAAAATTTATATATATATATATATTATTTTTAATTAATGAT GAGCTTACATAACCAAAAGCAGAGAGAAGCAAATGAATTTAGCATAAAGT TTAGAAGTAGATTTCTGCAACTAAACCCGTAAACATGAATGAGTAAAAAT AAATAAAAGAAGCATCTAGCTAAATCATTAGAAAAGGAACAACAAAACAA GTAGGTAGTGGGATTATATATTTAAAGTGCTAAAACAAAAAAGTTTATCA ACCAAGAATTCTATATCCAGAAAAAACTTTCTTCAAATGCTAAAGAGAAG TAGACAAAAATGTAGAGAATTTTCCCATGGCACACTTTCCTACAAGAAAT ACTAACAAGAGTCCAGGATGAAAATGAGCAGACACTAATTTGAATCAACA TGAAGAAATAAAGTACACTGCTAAAGGC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02622.hp2 HG02970.hp1 HG01496.hp2 HG02622.hp2 HG02970.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0200 a0001c0011t0005g0201 a0001c0011t0005g0202 a0001c0011t0005g0200 a0001c0011t0005g0201 a0001c0011t0005g0202	3	248	0.0121	-477	c.170 others(21): Show c.1703+45585_1703+46061del	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	12/13			chr5	TogoVar
ZNF16_chr8_144925358_144955880	144946824	TGGGCCTG others(470): Show TGGGCCTGTATCCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCTTGTGTC CTGCTGTGGGGCCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGGGCC ATACCCTTCTGTGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGCTGTGG GCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGGGCCTGTATCCTGCT GTTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTGCTGTGGGCCTGTAC CCTACTGTGGGCCATACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCCT GTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTGTGGG CCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCTTGTGTCCTGCT GTTGGGCTTGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGGGCCTGTA CCCTGCTGTGGGGCCTGTACCCTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	402	0.0025	-477	c.-9- others(14): Show c.-9-1086_-9-610del	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZZEF1_chr17_3999445_4148030	4125053	TACAGTGA others(470): Show TACAGTGAAAAGCACATCGGCCCTGTAGTGTTCCCCTTCTCCTTTCTAAC CTCACCCTCTGGTGTCCCTGACCCCCTTCCCTTACATCCTACAAGACTTA CCTCACTTAGCAACTGCCCTCTCTCCCCAGATTTCAAACCCTTCCTCAAC AATGCCTTCTGCCCTCCTGCTGATACACTCACTCACACATCGCTCTCACC ATGCAATACTTCAGGAGTCTTTAAGCCTCCTTTCCAAGTAACCCTCTCTC TTTCTTAAAACTCCTGCCCCTTGTTCTTATTTCTCTCCTCCATGAAATAG GAAAACAACCTACTGAGGTTTCATGACTAACATAAATACCCCTATTTCCA TCATAGACCTCTGAACAATGCAGTGTTTAAGAGGAACAAATGCAAATTCC TGTATTTGAGTCCAAAAACCATGGGCATAAATGCAGTAATGGGGACAGTC AGCTTAGAAGCAGCATGGAAAAGATCAC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18964.hp1 NA18993.hp2 others(1): Show NA18949.hp1 NA18964.hp1 NA18993.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 others(1): Show a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0004t0001g0143	4	294	0.0136	-477	c.355 others(17): Show c.355-1479_355-1003del	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	1/54			chr17	TogoVar
ADAMTS14_chr10_70667506_70767441	70727989	AGGAGGCT others(469): Show AGGAGGCTGAGGCAGAAGAATGGCATGAACCCAGGAGGTGGAGTTTGCAG TGAGCCGAGATCGCACCACTGCGCTCCAGCCTGGGCAATAGAGCGAGACT CCACCTCAAAAAAAAAAAAAAAAATCTTGGCCTCAAGTGAGCCTCCTACC TTGGCCTCCCAAAGCACTAGGATTACAGGCATAAGCCACCGTGCCTATGC CCGGTCAAGATTAGGCTTTTAAATGTATTGAATGATGTTCCATGAAACAA GCAACATAGAAACAGTATATTCAGTATGATTCCAATTTTGTAAAATAAGA TGCATGCATGTACACACGTGGCATGATGCAGGTTAACTGTAGTTATTATT AAGTCTGACTAATAGTAGTGTCGGTGATTTCATTTTCTTTTTTTGTAGTT TTCAGTTTTTATTTCTAGTGAGGTGTTTTGTATTCATAAACAAGGTTATT TAAAACAAAAAAGCTGGAGTATCCAAT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0182 a0002c0001t0001g0182	1	352	0.0028	-476	c.871 others(16): Show c.871-1302_871-827del	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235733	TGCTTTCA others(469): Show TGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACA GGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATT TTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCT GTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGT TTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGA GCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAAC CGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCG GGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACT CCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGG AGTGGGCGCTGAACGAACATGCCTGCA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0084 a0002c0002t0004g0084	1	106	0.0094	-476	c.136 others(19): Show c.1362-2364_1362-1889del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AP3D1_chr19_2095988_2156566	2128514	AGCTCCGA others(469): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02698.hp1 HG03654.hp2 HG02572.hp1 HG02698.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0075 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0001t0001g0075 a0001c0002t0001g0302 a0001c0002t0001g0303	3	310	0.0097	-476	c.806 others(15): Show c.806+100_806+575del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049805	TGGGGGGC others(469): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCA GAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAAC ACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGG GAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATG GGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGG AACACGGGGGGAAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02155.hp2 HG02258.hp2 others(6): Show HG01891.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02622.hp1 NA18985.hp2 NA19001.hp1 NA19063.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0031 a0001c0001t0001 a0001c0001t0011 a0001c0001t0031	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0011g0045 a0001c0001t0031g0289	9	284	0.0317	-476	c.44 others(11): Show c.4450_*4925del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2298		chr8	TogoVar
ATP10A_chr15_25673712_25868327	25757879	CTCCACCC others(469): Show CTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0037 a0037	a0037c0034 a0037c0034	a0037c0034t0001 a0037c0034t0001	a0037c0034t0001g0044 a0037c0034t0001g0044	1	298	0.0034	-476	c.655 others(19): Show c.655-22214_655-21739del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757982	GATCACCT others(469): Show GATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGATCCACCCTAACTCATTCCAATCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA TCACCTGCTCCACCCTAACTCATTCCT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02717.hp2 HG01261.hp2 HG02717.hp2	a0002 a0038 a0002 a0038	a0002c0002 a0038c0062 a0002c0002 a0038c0062	a0002c0002t0001 a0038c0062t0001 a0002c0002t0001 a0038c0062t0001	a0002c0002t0001g0271 a0038c0062t0001g0261 a0002c0002t0001g0271 a0038c0062t0001g0261	2	291	0.0069	-476	c.655 others(19): Show c.655-22317_655-21842del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C1QTNF8_chr16_1083226_1101244	1092320	GCTCAATC others(469): Show GCTCAATCAATCCCTGCACACAGTCGGCGCTCAATCAATCCCTGCACACA GTCGGGGCACAACCAATCCCTGCACACAGTCGGCGCTCAATCAATCACTG CACACAGTCGGCACTCAACCAATCACAGCACACAGTCGTCGCTCAACCAA TCACAGCACACAGTCGGCACTCAACCAATCCCTGCACACAGTCGGCGCTC AACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCG GCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATCACTGCACA CAGTCGGCGCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCAC AGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACC AATCACAGCACACAGTCGGCGCTCAACCAATCACAGCACACAGTCGGCGC TCAACCAATCACAGCACACAGTCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp2 NA19240.hp2 HG02630.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0018 a0001c0003t0013 a0001c0003t0018	a0001c0003t0013g0112 a0001c0003t0018g0026 a0001c0003t0013g0112 a0001c0003t0018g0026	3	391	0.0077	-476	c.4+ others(14): Show c.4+701_*4+1176del	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C8orf34_chr8_68325955_68824023	68365324	GGAACTGG others(469): Show GGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGG GAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGATACCAAAG CCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGAT GAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGC AGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGG ATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATAT AAACAGAACCAAAGTCAAAAACCACATGATTATCTCAATAGATGCAGAAA AAACCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAA TTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAA ACCCACAGCCAATATCATACTGAATGT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0079 a0001c0005t0003g0079	1	126	0.0079	-476	c.327 others(19): Show c.327+33987_327+34462del	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
CASP8_chr2_201255536_201292709	201283060	CCCTCCCG others(469): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCG GGCGGGGGGTTGAACCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTC CCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCC CTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGAGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	384	0.0026	-476	c.803 others(17): Show c.803-1701_803-1226del	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79745539	CCCCGCGT others(469): Show CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCG TTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCG TGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCC CTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCC GCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCT GTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCG CGTTCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCC CGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGT CCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGC CCGCGTCCCTCCCGTGCGCGTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03579.hp2 NA19030.hp1 others(1): Show HG01243.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0041 a0001c0001 a0001c0041	a0001c0001t0008 a0001c0041t0013 a0001c0001t0008 a0001c0041t0013	a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0105 others(1): Show a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0105 a0001c0041t0013g0100	4	316	0.0127	-476	c.274 others(19): Show c.2748-8085_2748-7610del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPH7_chr9_137549444_137583925	137566424	TCTGTCTG others(469): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19080.hp2 NA18951.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	2	338	0.0059	-476	c.641 others(17): Show c.641-1746_641-1271del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
F7_chr13_113100791_113125685	113107720	TGGGTGTC others(469): Show TGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGT GTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAG TGTGCGTGTCCCGGGGGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGG GCGTGGGTGTTCCGGAGGCGAGGGTATCCCAGAAGTGTGAGTGTCCCAGG GGCGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGG GAGTGTGGGTGTTCCGGAGGTGAGGGTGTCCCGGGAGTGTGGGTGTTCCG GAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCC GGGAGTGTGGGTGTTCCGGAGGTGAGGGTGTCCCGGGAGTGTGGGTGTTC CGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCAGGGGCGTGGGTGTC CCGGGAGTGTGGGTGTTCCGGAGGCGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	343	0.0029	-476	c.64+ others(15): Show c.64+1839_64+2314del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GMEB2_chr20_63582605_63632101	63607750	ATCCATTT others(469): Show ATCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCATTTCTAGAAAC ATGCCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTCTGACCC CACCTCCATTTCTAGAAACATGCCCCTGTGACCTCACCTCCATTTCTAGA AACATGCCCCTCTGACCTCACCTCCATTTCTAGAAACATGCCCCTCTGAC CCACACCTCCATTTCTAGAAACATGCCCCTGTGACCTCACCTCCATTTCT AGAAACATGCCCCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCT GACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCTCACCTCCATTT CTAGAAACATGCCCGTGACCCCACATCCATTTCTAGAAACATGCCCCTCT GACCCCACATCCATTTCTAGAAACATGCCCCTGTGACCTCACCTCCATTT CTAGAAACATGCCCCTCTGACCTCACC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0085 a0001c0004t0004g0085	1	221	0.0045	-476	c.132 others(17): Show c.132-3386_132-2911del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
HEATR4_chr14_73473484_73563947	73515671	CAAAAAAA others(469): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGC AGTTTAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACC AGCTTGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTT TCTGGGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGG CCAGCTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTT GAAATCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCC TATATCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTT AGATCTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTT TTACTTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCAC TAGCCATCTTCCACATCAACAGTCATC	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(157): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18997.hp1 NA18998.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0006 a0008 a0010 a0011 a0012 a0013 a0015 a0016 a0020 a0021	a0001c0001 a0001c0002 a0001c0004 others(18): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0017 a0001c0022 a0001c0029 a0002c0005 a0004c0012 a0006c0023 a0008c0013 a0010c0024 a0010c0028 a0011c0016 a0012c0027 a0013c0036 a0015c0033 a0016c0037 a0020c0025 a0021c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0013 a0001c0006t0003 a0001c0009t0005 a0001c0017t0003 a0001c0022t0001 a0001c0029t0001 a0002c0005t0003 a0004c0012t0004 a0006c0023t0003 a0008c0013t0003 a0010c0024t0003 a0010c0028t0003 a0011c0016t0004 a0012c0027t0003 a0013c0036t0005 a0015c0033t0003 a0016c0037t0005 a0020c0025t0001 a0021c0026t0002	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 others(154): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0002g0199 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0292 a0001c0001t0002g0306 a0001c0001t0002g0315 a0001c0001t0003g0007 a0001c0001t0003g0201 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0350 a0001c0001t0004g0156 a0001c0001t0004g0174 a0001c0001t0004g0180 a0001c0001t0004g0234 a0001c0001t0004g0249 a0001c0001t0004g0341 a0001c0001t0004g0345 a0001c0001t0005g0018 a0001c0001t0005g0061 a0001c0001t0008g0352 a0001c0002t0001g0038 a0001c0002t0001g0049 a0001c0002t0001g0068 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0002g0011 a0001c0002t0002g0196 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0253 a0001c0002t0002g0258 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0303 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0310 a0001c0002t0002g0313 a0001c0002t0002g0316 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0248 a0001c0002t0003g0326 a0001c0002t0003g0331 a0001c0002t0003g0346 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0101 a0001c0004t0004g0252 a0001c0004t0004g0255 a0001c0004t0005g0019 a0001c0004t0005g0025 a0001c0004t0005g0059 a0001c0004t0005g0060 a0001c0004t0006g0004 a0001c0004t0006g0146 a0001c0004t0006g0147 a0001c0004t0013g0355 a0001c0006t0003g0153 a0001c0006t0003g0348 a0001c0006t0003g0349 a0001c0009t0005g0013 a0001c0009t0005g0015 a0001c0017t0003g0334 a0001c0022t0001g0050 a0001c0029t0001g0130 a0002c0005t0003g0192 a0002c0005t0003g0193 a0004c0012t0004g0164 a0006c0023t0003g0217 a0008c0013t0003g0327 a0010c0024t0003g0213 a0010c0028t0003g0215 a0011c0016t0004g0148 a0012c0027t0003g0236 a0013c0036t0005g0036 a0015c0033t0003g0194 a0016c0037t0005g0035 a0020c0025t0001g0041 a0021c0026t0002g0259	160	278	0.5755	-476	c.121 others(19): Show c.1211-1913_1211-1438del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(469): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	273	0.0037	-476	c.26 others(11): Show c.2688_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
MELTF_chr3_196996740_197034817	197033600	GTGAGCAC others(469): Show GTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCCAAC TGGTTGGGGTGTGAGCATCTGCAGTAGTGTGATGTCAGAGGATGTTACAC TCTTGCCAACTGGTTGGGGTGTGAGCATCTGCAGTAGTGTGATGTCAGAG GATGTTACTCTCTTGCTGACTGGTTACTGTGTGAGCACCTGCAGTAGTGT GATGTCAGAGGATGTTACACTCTTGCTGACTGGTTGGGTGTGAGCACCTG CAGTCGTGTGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGTGGTG TGAGCACCTGCAGTAGTGTGATGTCAGAGCATGTTACACTCTTGCTGACT GGTTGGGTGTGAGCACCTGCAGTCGTGTGATGTCAGAGGATGTTACACTC TTGCTGACTGGTTGGGGTGAGTACCTGCAGTAGTGTGATGTCAGAGGATG TTACACTCTTGCTGACTGGTTGGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02647.hp2 HG02886.hp1 others(3): Show HG00280.hp1 HG02647.hp2 HG02886.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0013 a0001c0003t0013	a0001c0001t0001g0235 a0001c0001t0003g0093 a0001c0002t0013g0089 others(2): Show a0001c0001t0001g0235 a0001c0001t0003g0093 a0001c0002t0013g0089 a0001c0003t0013g0029 a0001c0003t0013g0030	6	416	0.0144	-476	c.-43 others(11): Show c.-4374_-3899del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3784		chr3	TogoVar
NTN5_chr19_48656407_48678017	48669085	TCACCACC others(469): Show TCACCACCACCATCACCACTATCACCATCATCACCACCACCACCATCATC ATATCACCATCATCACCACCATCACCACCACCACCATCACCACCATGACC ACCATCATCACCACCATCACCATCACCACCACCACCACCACGACCATCAT CACCACCACCACCATCACCACCACCACGACCATCATCACCACCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACC ACCATCACCACCACCACCATCACCACCACCATCACCACCACCACCATCAC CACCACCATCACCACCACCACCATCACCACCACCATCACCACCATCACCA CCACCACCACCATCACCACCATGACCACCATCATCACCACCATCACCACC ATCACCATCACCACCACCACGACCATCATCACCACCACCACCATCACCAC CACCATCACCACCACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	409	0.0024	-476	c.631 others(16): Show c.631+795_631+1270del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
OR2T6_chr1_248370746_248396811	248383938	TAAAGCAC others(469): Show TAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGTTCATC CTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGGTAAAGCACTGCACT AGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATTGTCA TGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGT TTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCT CATCCTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTG CACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATC ATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGGT GTGTTTCCTAGTGTTATCATCATGGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp1 NA18522.hp2 HG01109.hp1 HG02965.hp1 NA18522.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0014 a0004c0004 a0008c0014	a0004c0004t0007 a0004c0004t0024 a0008c0014t0031 a0004c0004t0007 a0004c0004t0024 a0008c0014t0031	a0004c0004t0007g0032 a0004c0004t0024g0032 a0008c0014t0031g0059 a0004c0004t0007g0032 a0004c0004t0024g0032 a0008c0014t0031g0059	3	402	0.0075	-476	c.-15 others(17): Show c.-158-739_-158-264del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR6B3_chr2_240039571_240058521	240042103	CGAAGGGC others(469): Show CGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGG CATGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTG AAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCG TGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAA GGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATG GACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGA GGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGG TGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGC CGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGG AAGGGCCGTGGGTGAAGAGGCATGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00642.hp2 others(67): Show HG00423.hp2 HG00438.hp1 HG00642.hp2 HG00741.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03834.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18986.hp1 NA18992.hp2 NA19005.hp1 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19064.hp2 NA19066.hp1 NA19076.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0011	a0001c0001 a0002c0014 a0003c0005 others(4): Show a0001c0001 a0002c0014 a0003c0005 a0004c0003 a0004c0017 a0009c0022 a0011c0021	a0001c0001t0001 a0002c0014t0001 a0003c0005t0001 others(7): Show a0001c0001t0001 a0002c0014t0001 a0003c0005t0001 a0003c0005t0007 a0004c0003t0001 a0004c0003t0003 a0004c0003t0013 a0004c0017t0003 a0009c0022t0001 a0011c0021t0002	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0115 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0115 a0002c0014t0001g0070 a0003c0005t0001g0016 a0003c0005t0001g0073 a0003c0005t0001g0074 a0003c0005t0001g0095 a0003c0005t0001g0114 a0003c0005t0007g0133 a0004c0003t0001g0004 a0004c0003t0001g0019 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0032 a0004c0003t0001g0059 a0004c0003t0003g0007 a0004c0003t0003g0029 a0004c0003t0003g0030 a0004c0003t0003g0053 a0004c0003t0003g0071 a0004c0003t0003g0076 a0004c0003t0003g0078 a0004c0003t0003g0079 a0004c0003t0003g0080 a0004c0003t0003g0105 a0004c0003t0003g0110 a0004c0003t0003g0112 a0004c0003t0003g0124 a0004c0003t0003g0131 a0004c0003t0013g0134 a0004c0017t0003g0083 a0009c0022t0001g0098 a0011c0021t0002g0118	70	442	0.1584	-476	c.24 others(11): Show c.2498_*2973del	OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding		2467		chr2	TogoVar
P2RX5_chr17_3668227_3701155	3686365	TCCCCCGC others(469): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCC AGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	348	0.0029	-476	c.981 others(17): Show c.981+1171_981+1646del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
RARS2_chr6_87508938_87594987	87576043	ACCCGCCT others(469): Show ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAATGCG CCCAGCTGGATAAGTCTTCTTTAAAAATTGAGTCAAACAAAAAAATCCAA GCTGCAGCTGCACAAAGATAATTACACTTTGATATAATTTATATAAAATT TAATAACTTGTAAAATAATACTATTTAGAGATACATTCATAGGTAATGAG TGACATTTACAGGTATAATAAACACAAATTTCTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(162): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0003 a0002c0012 others(3): Show a0001c0001 a0002c0003 a0002c0012 a0004c0007 a0004c0013 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0002c0003t0004 a0002c0003t0006 a0002c0003t0011 a0002c0012t0006 a0004c0007t0002 a0004c0013t0002 a0009c0018t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0043 others(161): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0093 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0013g0012 a0002c0003t0004g0013 a0002c0003t0004g0131 a0002c0003t0004g0132 a0002c0003t0004g0133 a0002c0003t0004g0134 a0002c0003t0004g0136 a0002c0003t0004g0137 a0002c0003t0004g0138 a0002c0003t0004g0139 a0002c0003t0004g0140 a0002c0003t0004g0141 a0002c0003t0004g0143 a0002c0003t0004g0144 a0002c0003t0004g0145 a0002c0003t0004g0146 a0002c0003t0004g0147 a0002c0003t0004g0148 a0002c0003t0004g0149 a0002c0003t0004g0150 a0002c0003t0004g0151 a0002c0003t0004g0152 a0002c0003t0004g0155 a0002c0003t0004g0156 a0002c0003t0004g0157 a0002c0003t0004g0158 a0002c0003t0004g0159 a0002c0003t0004g0160 a0002c0003t0004g0161 a0002c0003t0004g0162 a0002c0003t0004g0163 a0002c0003t0004g0164 a0002c0003t0004g0165 a0002c0003t0004g0166 a0002c0003t0004g0167 a0002c0003t0006g0130 a0002c0003t0006g0135 a0002c0003t0006g0153 a0002c0003t0006g0154 a0002c0003t0006g0364 a0002c0003t0006g0367 a0002c0003t0006g0368 a0002c0003t0006g0369 a0002c0003t0011g0366 a0002c0012t0006g0365 a0004c0007t0002g0014 a0004c0007t0002g0046 a0004c0013t0002g0021 a0009c0018t0002g0374	165	380	0.4342	-476	c.37- others(15): Show c.37-6929_37-6454del	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding	1/19			chr6	TogoVar
RFX7_chr15_56082280_56248879	56110399	CGCCCCGT others(469): Show CGCCCCGTCCGGGGGAGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGCGAGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGG TCAGCCCCCCACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC ACCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCA CCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG00741.hp2 others(13): Show HG00323.hp1 HG00738.hp2 HG00741.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02148.hp1 HG02300.hp1 HG03017.hp1 HG03195.hp1 NA18971.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0004t0008 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0004t0008 a0001c0004t0011 a0001c0004t0050	a0001c0001t0001g0146 a0001c0001t0012g0009 a0001c0004t0008g0215 others(13): Show a0001c0001t0001g0146 a0001c0001t0012g0009 a0001c0004t0008g0215 a0001c0004t0008g0218 a0001c0004t0008g0219 a0001c0004t0008g0220 a0001c0004t0008g0221 a0001c0004t0008g0222 a0001c0004t0008g0228 a0001c0004t0008g0229 a0001c0004t0011g0216 a0001c0004t0011g0223 a0001c0004t0011g0224 a0001c0004t0011g0226 a0001c0004t0011g0227 a0001c0004t0050g0225	16	352	0.0455	-476	c.402 others(17): Show c.402-7205_402-6730del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
ROBO2_chr3_77035099_77654964	77290142	TTAAACGG others(469): Show TTAAACGGGTAAGCTGAGGCTAGATCACCCAAGACACAAAGTAAAATTGA TGGTTAAACGGGTAATCTGAGGCTAGATCACCCCAGACATAAAGTAAAAT TGATGGTTAAACGGGAAGTTGAGGCTAGAACAGTAAAGACATAAAGTAAA ATTGATGGTTAAATGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGT AAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGATCACTAAAGACATAA AGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACA TAAAGTAGAATTGATGTTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAG ACATAAAGTAAAATTGACGGTTAAACGGGTAATCTGAGGCTAGATCACCC CAGACATGAAGTAAAATTGATGGTTAAACGAGTAAGCTGAGGCTAGATCA CCCCAGACGTAAAGTAAAATTGACGGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00597.hp1 others(96): Show HG00140.hp2 HG00280.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18986.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(7): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009 a0003c0004 a0004c0010 a0005c0007 a0006c0005 a0008c0012 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0026 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0009t0002 a0003c0004t0002 a0004c0010t0033 a0005c0007t0002 a0006c0005t0002 a0008c0012t0004 a0009c0011t0005	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0036 others(96): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0128 a0001c0001t0002g0143 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0003g0048 a0001c0001t0003g0101 a0001c0001t0003g0124 a0001c0001t0003g0142 a0001c0001t0004g0010 a0001c0001t0004g0070 a0001c0001t0004g0109 a0001c0001t0004g0119 a0001c0001t0004g0123 a0001c0001t0004g0133 a0001c0001t0004g0148 a0001c0001t0005g0044 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0071 a0001c0001t0005g0095 a0001c0001t0005g0129 a0001c0001t0005g0145 a0001c0001t0005g0159 a0001c0001t0006g0015 a0001c0001t0006g0021 a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0152 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0008g0028 a0001c0001t0008g0125 a0001c0001t0009g0089 a0001c0001t0009g0093 a0001c0001t0009g0121 a0001c0001t0010g0131 a0001c0001t0011g0047 a0001c0001t0012g0045 a0001c0001t0013g0098 a0001c0001t0014g0003 a0001c0001t0014g0082 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0020g0009 a0001c0001t0021g0016 a0001c0001t0023g0033 a0001c0001t0024g0001 a0001c0001t0025g0078 a0001c0001t0027g0096 a0001c0001t0028g0084 a0001c0001t0029g0042 a0001c0001t0032g0102 a0001c0001t0034g0120 a0001c0001t0038g0052 a0001c0001t0039g0063 a0001c0001t0040g0057 a0001c0001t0041g0054 a0001c0002t0001g0138 a0001c0002t0002g0087 a0001c0002t0002g0105 a0001c0002t0007g0113 a0001c0002t0007g0115 a0001c0002t0007g0117 a0001c0002t0012g0114 a0001c0002t0018g0086 a0001c0002t0019g0111 a0001c0002t0026g0081 a0002c0003t0001g0136 a0002c0003t0002g0108 a0002c0003t0007g0116 a0002c0009t0002g0080 a0003c0004t0002g0092 a0003c0004t0002g0141 a0004c0010t0033g0018 a0005c0007t0002g0083 a0006c0005t0002g0088 a0008c0012t0004g0059 a0009c0011t0005g0107	99	160	0.6188	-476	c.389 others(21): Show c.389-186890_389-186415del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77294292	TAAAGTAA others(469): Show TAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCACCAAAG ACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCTAGGTCACCA AAGACATAAAGTAAAATTAATGGTAAAACGGGAAGTTGAGCCTAGATCCC TAAAGACATAAAGTAAAATTGACGGGTAAACGGGTAAGCTGAGGCTAGAT CACCCCAGACATTAAGTAAAATTGATGGTTAAACGGGTAAACTGAGGCTA GATCCCTAAAGACATAAAGTAAAATTGACGGTTAAACAGGTAAGCTGAGG CTAGATCATCAAAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTG AGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAG CTGAGGCTAGATCACCAAAGACATGAAGTAAAATTGATGGTTAAACGGGT AAGCTGAGGCTAGATCACCCCAGACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp2 HG03139.hp1 others(5): Show HG02486.hp2 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0009c0011	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0024 a0001c0002t0019 a0001c0006t0001 a0009c0011t0005	a0001c0001t0002g0002 a0001c0001t0005g0051 a0001c0001t0015g0012 others(5): Show a0001c0001t0002g0002 a0001c0001t0005g0051 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0024g0001 a0001c0002t0019g0111 a0001c0006t0001g0005 a0009c0011t0005g0107	8	160	0.0500	-476	c.389 others(21): Show c.389-183076_389-182601del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC9A3_chr5_465456_529449	486886	GCACTGAC others(469): Show GCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCC ACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGACA CCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTG ACACCCACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACC CACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGAC ACCCACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACT GACACCCACCACACTGACACCCACCGCACTGACACCCACCACACTGACAC CGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGA CACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCACAC TGACACCCACCGCACTGACACCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0112 a0001c0003t0008g0112	1	186	0.0054	-476	c.675 others(16): Show c.675+954_675+1429del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
TRIML1_chr4_188134441_188152743	188151570	GTGAGAAG others(469): Show GTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGATTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGGGAGAGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01243.hp1 HG02129.hp2 HG00544.hp2 HG01243.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0003g0103 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0003g0103	3	180	0.0167	-476	c.41 others(11): Show c.4199_*4674del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3828		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238880288	TGTTAGTG others(469): Show TGTTAGTGTTATTGTTAGTGTTAGTGTTGGTATTTATTATTATTAGTGTT AGTGTCAGTATTAGTGTTAGTATTTATTTGTGTTAGCATTAGTATTAATG TTAGTGTTAGTATTTATTAGTGTTAGTGTTGGTAATATTTATTAGCATTA GTGTTAGTGTTAGTATTTATTAGTATTAGTTACTATTTATTAGTGTCAGT GTTAGTGTTAGTGTCAGCATTAGTATTAGTGTGTTAGTATTGGTATTAGT GTTAGTGTTAGTATTTATTAGTATTAGTATTACTGTTAGTATTAGTATTA GTGTTATGTTAGTATTAGTGTTAGTATTTATTAGTATTAGTGTTACTGTT AGTCTTAGTGTTAGTGTCAGTATTAGTATTAGTGTTAGTGTCAGTATTAG TGTATTTATTAGTGTTAGCATTAGTATTAATGTTAGTATCTATTAGTATT AGTGTTAGTGTTGGTGTTAATATTAGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02922.hp2 others(2): Show HG02486.hp2 HG02572.hp1 HG02922.hp2 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0001g0309 a0001c0001t0001g0316 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0309 a0001c0001t0001g0316 a0001c0001t0001g0326 a0001c0001t0002g0315	5	336	0.0149	-476	c.36 others(19): Show c.36-29553_*36-29078del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(468): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp2 NA18974.hp2 HG00140.hp1 HG01255.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0320 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0320	3	300	0.0100	-475	c.806 others(15): Show c.806+173_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATP11A_chr13_112685038_112892168	112766788	GGATGTGG others(468): Show GGATGTGGGGGCGTTGGGGGCCACTGTGGGAAGGTGGGGAGATGTGGGGG TGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGC CCCTGTGGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAA GGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGG ATGTAGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGGAGGATGTGGGGGC GTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCC CTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAAG GTGGGGAGGATGTAGGGGTATCGGGGGCCCCTGTAGGAAGGTAGGGAGGA TGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGT TGGGGGCCCCTGTGGGAAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02148.hp1 HG02735.hp1 others(3): Show HG01123.hp2 HG02148.hp1 HG02735.hp1 HG02895.hp1 HG02922.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0023 a0001c0002t0015 a0001c0004t0006 others(1): Show a0001c0001t0023 a0001c0002t0015 a0001c0004t0006 a0002c0003t0001	a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0002t0015g0054 others(3): Show a0001c0001t0023g0157 a0001c0001t0023g0158 a0001c0002t0015g0054 a0001c0004t0006g0058 a0001c0004t0006g0061 a0002c0003t0001g0059	6	248	0.0242	-475	c.40- others(17): Show c.40-18336_40-17862del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CBFA2T3_chr16_88869858_88982207	88954362	CCCAAGGC others(468): Show CCCAAGGCTCCTGACCCCACCCAAGACTCCTGACCCTACCCAAGACTCCT GACCCCACCCAAGGCTCCTGACCCCATCCAAGGCTCCTGACCCCAGCCAA GTGTCCTGACCCCAGCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCT CAGCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACCTCAGCCAAGGCTC CTGACCCTACCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCC AAGGCTCCTGACTCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGAC CCTACCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGC TCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAG CCAAGACTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTG ACCCCAGCCAAGGCTCCTGACCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00642.hp2 others(49): Show HG00099.hp2 HG00140.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG02145.hp1 HG02572.hp1 HG02602.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18952.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19043.hp1 NA19079.hp2 NA19085.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0004c0012 a0007c0019	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0031 a0001c0002t0035 a0001c0003t0001 a0001c0003t0002 a0001c0005t0012 a0001c0005t0028 a0002c0004t0001 a0004c0012t0001 a0007c0019t0001	a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0069 others(49): Show a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0009g0150 a0001c0001t0016g0081 a0001c0001t0020g0259 a0001c0001t0031g0248 a0001c0002t0035g0283 a0001c0003t0001g0251 a0001c0003t0002g0252 a0001c0005t0012g0237 a0001c0005t0028g0196 a0002c0004t0001g0140 a0002c0004t0001g0141 a0004c0012t0001g0120 a0007c0019t0001g0197	52	279	0.1864	-475	c.151 others(19): Show c.151+21820_151+22294del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
DLG1_chr3_197037560_197303612	197084406	GGTTCAAG others(468): Show GGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCGATTACAGG CGCCCGCCACCACACCCAGCTAATGTTTGTATTTTTAGTAGAGACGGGGT TTCACCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCC CACCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCT GGCCCATATTTTCTAGTTATGTCACTGGTTACAATTCCATTTGAATAAAA TCAAATGGCTGTGAAACACAATATAAAAAACTGAGCATAAAATCATTTTA GTAAAATAAATTTATTTTTTCAGTTCTGGTGATTATTTTTAATTTTTTTA TGTGTATATTTTATATATATAGATAGATATAGATATAGATATAGATATTT AGACAGAGTTTTGCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGCAAACTC AGGTCACTGCAATTTCGGCCTCCTGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02015.hp2 HG02132.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0175 a0001c0006t0004g0176 a0001c0006t0004g0175 a0001c0006t0004g0176	2	330	0.0061	-475	c.183 others(18): Show c.1838+699_1838+1173del	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	16/24			chr3	TogoVar
HEATR4_chr14_73473484_73563947	73515672	AAAAAAAA others(468): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGCA GTTTAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACCA GCTTGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTTT CTGGGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGGC CAGCTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTTG AAATCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCCT ATATCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTTA GATCTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTTT TACTTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCACT AGCCATCTTCCACATCAACAGTCATC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01081.hp1 others(70): Show HG00621.hp1 HG00621.hp2 HG01081.hp1 HG01123.hp2 HG01243.hp2 HG01256.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02145.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 NA18522.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18962.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18986.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19030.hp2 NA19068.hp1 NA19079.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0011 a0018 a0019	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014 a0001c0031 a0001c0032 a0002c0005 a0007c0010 a0008c0013 a0011c0016 a0018c0018 a0019c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0004t0006 a0001c0006t0001 a0001c0014t0001 a0001c0014t0002 a0001c0031t0001 a0001c0032t0005 a0002c0005t0003 a0007c0010t0003 a0008c0013t0002 a0011c0016t0004 a0018c0018t0005 a0019c0030t0009	a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 others(65): Show a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0002g0165 a0001c0001t0002g0207 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0003g0158 a0001c0001t0003g0197 a0001c0001t0003g0221 a0001c0001t0003g0224 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0004g0191 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0342 a0001c0001t0004g0344 a0001c0001t0005g0003 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0145 a0001c0002t0001g0114 a0001c0002t0001g0128 a0001c0002t0002g0010 a0001c0002t0002g0210 a0001c0002t0002g0291 a0001c0002t0002g0300 a0001c0002t0002g0302 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0330 a0001c0002t0002g0338 a0001c0003t0001g0042 a0001c0003t0001g0086 a0001c0003t0003g0006 a0001c0003t0003g0219 a0001c0003t0004g0157 a0001c0003t0004g0184 a0001c0004t0006g0143 a0001c0006t0001g0054 a0001c0006t0001g0056 a0001c0014t0001g0102 a0001c0014t0002g0301 a0001c0031t0001g0085 a0001c0032t0005g0016 a0002c0005t0003g0005 a0007c0010t0003g0008 a0007c0010t0003g0251 a0008c0013t0002g0328 a0011c0016t0004g0343 a0018c0018t0005g0066 a0019c0030t0009g0142	73	365	0.2000	-475	c.121 others(19): Show c.1211-1913_1211-1439del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
LRRC27_chr10_132327193_132386508	132362632	GCAGCTCG others(468): Show GCAGCTCGGGGGTCCAGGGCTCACCCTTCTCACCTCACACCAGCTCGGGG GGCCAGGGTTCATGAACCCTCTCACCTCACAGCAGCTCGGGGGTCCAGGG CTCACCCTTCTCACCTCACACCAGCTCGGGGGGCCAGGGTTCATGAACCC TCTCACCTCACAGCTGCTTGGGGGTCCGGGGTTCACCCCTCTTACCTCAC AGCAGCTCGGGGGTCGGGTTCATGAACCCTCTCACCTCACAGCTGCTCGG GGGTCCGGGGTTCACCCCTCTCACCTCGCAGCAGCTCAGGAGTATGGGGT TCACCCTTCTCACCTCACACCAGCTCGGGGGTCCAGGGCTCACCCTTCTC ACCTCACAGCAGCTCGGGGGTCTGGGGTTCACCCTTCTCACCTCACAGCA GCTCAGGAGTATGGGGTTCACCCTTCTCACCTCACACCAGCTCGGTGGTC CAGGGCTCACCCTTCTCACCTCACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(39): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00735.hp2 HG01070.hp2 HG01099.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03704.hp2 HG04228.hp2 HG06807.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0002c0004 a0003c0008 a0006c0012	a0001c0001t0017 a0001c0003t0006 a0001c0003t0007 others(12): Show a0001c0001t0017 a0001c0003t0006 a0001c0003t0007 a0001c0006t0017 a0001c0006t0026 a0001c0006t0027 a0001c0007t0007 a0001c0011t0001 a0001c0013t0007 a0002c0004t0010 a0002c0004t0011 a0002c0004t0016 a0002c0004t0022 a0003c0008t0007 a0006c0012t0006	a0001c0001t0017g0112 a0001c0003t0006g0001 a0001c0003t0006g0088 others(38): Show a0001c0001t0017g0112 a0001c0003t0006g0001 a0001c0003t0006g0088 a0001c0003t0006g0089 a0001c0003t0006g0090 a0001c0003t0006g0092 a0001c0003t0006g0099 a0001c0003t0006g0100 a0001c0003t0006g0101 a0001c0003t0006g0105 a0001c0003t0006g0106 a0001c0003t0006g0107 a0001c0003t0006g0108 a0001c0003t0007g0087 a0001c0003t0007g0095 a0001c0003t0007g0097 a0001c0003t0007g0102 a0001c0003t0007g0103 a0001c0003t0007g0104 a0001c0006t0017g0113 a0001c0006t0026g0114 a0001c0006t0027g0115 a0001c0007t0007g0096 a0001c0007t0007g0098 a0001c0011t0001g0110 a0001c0011t0001g0111 a0001c0013t0007g0091 a0002c0004t0010g0019 a0002c0004t0010g0021 a0002c0004t0010g0022 a0002c0004t0010g0023 a0002c0004t0010g0024 a0002c0004t0010g0025 a0002c0004t0011g0016 a0002c0004t0011g0017 a0002c0004t0011g0018 a0002c0004t0016g0026 a0002c0004t0022g0020 a0003c0008t0007g0093 a0003c0008t0007g0094 a0006c0012t0006g0109	42	288	0.1458	-475	c.128 others(19): Show c.1289+1140_1289+1614del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101782213	CTCCCTCT others(468): Show CTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCCTTCCCCCTCTCTCCCCCC CTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCC CTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCT TTCTCCCCTTCCCTCTCTCTCCCCTCTGGCTCTTTCTCCCCTTCCCTCTC TCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCC TCTCTCCCCCTTCCGCTCCCTCTCCCCCTTCCCCTCCCTCTCTTTCCTCT TTCTCTCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCT TCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTT CCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTC TCCCCTTCTCTCTCTCTTTCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	136	0.0074	-475	c.94- others(15): Show c.94-3794_94-3320del	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCUBE1_chr22_43192280_43348372	43280921	CTGTCACC others(468): Show CTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCT CCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCT GTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTC ACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACC TCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCC CTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTC CTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTC AGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGG CCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCA CCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0102 a0003c0007t0001g0102	1	278	0.0036	-475	c.484 others(18): Show c.484+9650_484+10124del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SKI_chr1_2223319_2315213	2281102	CGGCGGAG others(468): Show CGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTC ATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATC TTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAG AGAGGACGCCCGAGAGGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0277 a0001c0001t0050g0277	1	141	0.0071	-475	c.970 others(19): Show c.970-21852_970-21378del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281169	CGCCCGAG others(468): Show CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0189 a0001c0001t0033g0189	1	282	0.0035	-475	c.970 others(19): Show c.970-21800_970-21326del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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