Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
C1R_chr12_7075219_7097445	7083650	GNNNNNNN others(765): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	320	0.0031	-772	c.127 others(19): Show c.1273+1439_1274-1545del		C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10						chr12	TogoVar
CNN2_chr19_1021608_1044065	1033780	GAGCGTGG others(765): Show GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACG GTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGC	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0104 a0001c0003t0003g0104	1	390	0.0026	-772	c.390 others(17): Show c.390+1187_391-1476del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034300	GACCGGGA others(765): Show GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTG TAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACG GTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGT GGGTGGGACGGTGTCTGGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01081.hp2 others(20): Show HG00438.hp2 HG00609.hp1 HG01081.hp2 HG01934.hp2 HG01943.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02630.hp2 HG02647.hp1 HG03225.hp2 HG03453.hp1 HG03927.hp1 HG06807.hp1 NA18944.hp2 NA18951.hp1 NA18966.hp2 NA18969.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0013 a0001c0005t0008 a0001c0015t0011 a0001c0018t0008	a0001c0001t0001g0119 a0001c0001t0002g0103 a0001c0001t0002g0115 others(13): Show a0001c0001t0001g0119 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0011g0022 a0001c0001t0011g0059 a0001c0001t0011g0192 a0001c0002t0013g0023 a0001c0005t0008g0011 a0001c0005t0008g0012 a0001c0005t0008g0021 a0001c0005t0008g0044 a0001c0005t0008g0143 a0001c0005t0008g0162 a0001c0005t0008g0249 a0001c0015t0011g0060 a0001c0018t0008g0193	23	390	0.0590	-772	c.390 others(17): Show c.390+1643_391-1020del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132135520	CGCTCCTC others(765): Show CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTG CCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01256.hp2 HG01496.hp1 others(15): Show HG00280.hp2 HG01256.hp2 HG01496.hp1 HG02615.hp2 HG02622.hp1 HG02738.hp1 HG02818.hp2 HG02965.hp1 HG03486.hp2 HG03654.hp1 HG03654.hp2 NA18906.hp1 NA18941.hp1 NA18964.hp1 NA18979.hp2 NA18983.hp2 NA19005.hp1 NA20752.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0017 a0002c0002 a0010c0017	a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0033 a0002c0002t0037 a0010c0017t0019	a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0003g0006 others(6): Show a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0003g0006 a0002c0002t0003g0044 a0002c0002t0010g0014 a0002c0002t0010g0077 a0002c0002t0033g0049 a0002c0002t0037g0052 a0010c0017t0019g0025	18	334	0.0539	-772	c.29 others(11): Show c.2980_*3751del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1073		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135523	TCCTCCCA others(765): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGC CCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACC TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTG TGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCC GAGTGTGCCCACGGTGCCCGCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02451.hp2 others(3): Show HG02055.hp1 HG02055.hp2 HG02451.hp2 HG02809.hp1 HG02818.hp1 NA20805.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0014 a0002c0002 a0006c0014	a0002c0002t0002 a0006c0014t0002 a0002c0002t0002 a0006c0014t0002	a0002c0002t0002g0003 a0002c0002t0002g0054 a0006c0014t0002g0037 a0002c0002t0002g0003 a0002c0002t0002g0054 a0006c0014t0002g0037	6	334	0.0180	-772	c.29 others(11): Show c.2977_*3748del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1070		chr12	TogoVar
GAK_chr4_844277_937316	926858	CTCCGCAC others(765): Show CTCCGCACTGCCCCGCAACCCCCCCCACCCCGCTCACCTGCGCTCCGCAC TGCCCCGCACCCCTCCCGGCTCACCAGCGCTCCGCACTGCCCCGCACCCC TCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCA GCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTG CCCCGCACCCCTTCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTC CCCGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGC GCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCC CCGCACCCCTCCCGGCTCACCTGCCCTCCGCACTGCCCCACACCCCTCCC GGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAG TCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCC GCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGG CTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACCCCTCCCC GCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGT CCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCG CACCCCTCCCGGCTCACCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0264 a0007c0015t0001g0264	1	390	0.0026	-772	c.145 others(17): Show c.145+4413_145+5184del		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
RBM6_chr3_49935150_50082249	49938767	GCCTGCCA others(765): Show GCCTGCCACCAAGCCCGGGTAATTTTTTTTTTTTTTTGCGACAGTCTCCC TCTGTCGCCTAGGCTGGAGTGCAGTGGCGCTATCTCGACTCACTGCAAGC TCCGCCTCCCGGGTTCACGTCATTCTCCTGCCTCAGCCTCCTGAGTAGCT GGGACTACAGGTGCCCGCCACCACGCTCCACTAATTTTTTGTGTTTTTAG TAGAGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGTCGTGA GCCACTGCGCCCAACTTCTTTCTTTCTTTCTTTCTTTTGAGACGGAGTCT TGCGCTGTTGCCAGGCAACAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTGTGCTTCCCGGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGC TGGGATTACAGGCATGCGCCACCACGCCTGGCTACTTTTTGTATTTTTAG TAGCGATGGGGTTTCACTATCTTGGCCAGGCTGGTCTTGAACTCCTGACC TCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAGCATGA GCCACTGCGCCCGGCCTTTTTCTTTCTTTCTTTTTTTCTGAGGTGGAGTC TTGCTCTATTGTCCAGGCTGGAGTGCAGTGGCACAGTGTCGGCTCACTGC AACCTCTGCCTCTGCCTCCCGGGTTTAAGTGATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGATTACAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(82): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19043.hp1 NA19057.hp1 NA19066.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0004c0007 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 a0004c0007t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0002t0001g0111 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0011t0001g0213 a0004c0007t0001g0171 a0004c0007t0001g0173 a0004c0007t0001g0203 a0006c0009t0001g0119	85	218	0.3899	-772	c.-15 others(10): Show c.-1524_-753del		RBM6	ENSG00000004534.15	transcript	ENST00000266022.9	protein_coding					1382		chr3	TogoVar
SVOPL_chr7_138589285_138706362	138611698	AAAGATAA others(765): Show AAAGATAAGACTTTGGTTAAAAGATTGAAAATTAAAGCTAGATAGGAGGA ATAAGTTCTAATGCTCTATACCATTATGGTATGACAATAGTTAATAATAT ATAGCTTCGACAACCTACACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAG TGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGTGC CCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAA TAGAAAGGCGGGAAAGGCGGGGAAAGGATTGGGAAATCGGATGGTTGCCG GGTCTGTGTAGAAAGAGGTAGACATGGGAGACTTTTCATTTTGTTCTGCA CTAAGAAAAATTCCTCTGTCTTGGGATCCTGTTGATCTGTGACCTTACCC CCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATG GATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGATTGAAGGCAG CATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGAC ACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGAC CTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGA CCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAA AATAAATTAAAAAAAAAAAAAAAAAATAAAATAAAAAATAAAAAAAAAAT AAAAAAAAAAAAAAAAGAAAGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(79): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01934.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02615.hp1 HG02738.hp1 HG02896.hp2 HG03098.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG04184.hp2 NA18612.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0016 a0001c0029 a0002c0006 a0002c0010 a0003c0007 a0003c0009 a0003c0028 a0004c0013 a0004c0017 a0005c0033 a0009c0021	a0001c0001t0002 a0001c0002t0002 a0001c0005t0001 others(20): Show a0001c0001t0002 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0008t0002 a0001c0016t0002 a0001c0029t0002 a0002c0006t0001 a0002c0006t0002 a0002c0010t0001 a0002c0010t0002 a0002c0010t0003 a0003c0007t0002 a0003c0009t0002 a0003c0009t0004 a0003c0028t0002 a0004c0013t0002 a0004c0013t0012 a0004c0017t0001 a0004c0017t0002 a0005c0033t0001 a0009c0021t0002	a0001c0001t0002g0349 a0001c0002t0002g0093 a0001c0002t0002g0149 others(79): Show a0001c0001t0002g0349 a0001c0002t0002g0093 a0001c0002t0002g0149 a0001c0005t0001g0119 a0001c0005t0002g0023 a0001c0005t0002g0024 a0001c0005t0002g0026 a0001c0005t0002g0034 a0001c0005t0002g0038 a0001c0005t0002g0053 a0001c0005t0002g0088 a0001c0005t0002g0103 a0001c0005t0002g0117 a0001c0005t0002g0155 a0001c0005t0002g0159 a0001c0005t0002g0186 a0001c0005t0002g0207 a0001c0005t0002g0255 a0001c0005t0002g0294 a0001c0005t0002g0299 a0001c0005t0002g0302 a0001c0005t0002g0308 a0001c0005t0002g0331 a0001c0005t0002g0339 a0001c0008t0001g0257 a0001c0008t0001g0278 a0001c0008t0002g0082 a0001c0008t0002g0112 a0001c0008t0002g0135 a0001c0008t0002g0179 a0001c0008t0002g0185 a0001c0008t0002g0198 a0001c0008t0002g0210 a0001c0008t0002g0212 a0001c0008t0002g0225 a0001c0008t0002g0319 a0001c0008t0002g0338 a0001c0016t0002g0180 a0001c0016t0002g0205 a0001c0029t0002g0265 a0002c0006t0001g0170 a0002c0006t0002g0006 a0002c0006t0002g0027 a0002c0006t0002g0032 a0002c0006t0002g0035 a0002c0006t0002g0167 a0002c0006t0002g0176 a0002c0006t0002g0220 a0002c0006t0002g0231 a0002c0006t0002g0246 a0002c0006t0002g0247 a0002c0006t0002g0258 a0002c0006t0002g0305 a0002c0006t0002g0336 a0002c0006t0002g0341 a0002c0010t0001g0138 a0002c0010t0001g0253 a0002c0010t0001g0344 a0002c0010t0002g0094 a0002c0010t0002g0181 a0002c0010t0002g0191 a0002c0010t0002g0211 a0002c0010t0002g0213 a0002c0010t0003g0282 a0003c0007t0002g0177 a0003c0009t0002g0015 a0003c0009t0002g0115 a0003c0009t0002g0131 a0003c0009t0002g0224 a0003c0009t0002g0259 a0003c0009t0002g0311 a0003c0009t0002g0313 a0003c0009t0002g0343 a0003c0009t0004g0233 a0003c0009t0004g0235 a0003c0028t0002g0057 a0004c0013t0002g0140 a0004c0013t0012g0360 a0004c0017t0001g0254 a0004c0017t0002g0192 a0005c0033t0001g0342 a0009c0021t0002g0262	82	360	0.2278	-772	c.135 others(19): Show c.1353+8576_1353+9347del		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15						chr7	TogoVar
TUBA3C_chr13_19168772_19186824	19173946	CCTCGCGG others(765): Show CCTCGCGGGCCTCAGAGAACTCCCCCTCCTCCATGCCTTCTCCCACGTAC CAGTGCACAAAGGCCCGCTTGGCATACATGAGATCGAACTTATGGTCCAG GCGAGCCCAGGCCTCCGCGATGGCCGTGGTGTTGCTCAGCATGCACACAG CCCGCTGCACCTTGGCCAGGTCTCCCCCAGGGACCACCGTGGGGGGCTGG TAGTTAATGCCCACCTGCCGGAGAAGAGGAAGAAACAGTCCATGAAGCTT ATATCAAACCTGGAAATGGTGGCTGCTTTTCCTCAAAAAGAAGACACCCT GTAGGTGAACAGGAGAATTCTCAGTTCACCCCACAAATGTCACTAAGCCC TTCTCTGTGCCAGGCAGGGTGACAGTTCCAGACAACATATGTTGCCCAGG CTGGCCTCAAACTCCTGGGCCCAATCGATCCACCCACCCCAGCCTCCCAA AGTGCTAGGATTACAGTCATGAGGCAGCATGCCCAGCATTTTTTTTTTTT TTTAAGAATAAGGTATTTTCTAAAGGATTTTTGTGCCCCTTTCTTGGGTG GTAGAATTCATGTGGAAAAGGTAGGTTGAACTTAGTAATTTTATGGGCAT TTTGGGGAATCTTGTAGGTGGTGTATATATTTTATTTTAACTTGGGCATT ACTATAAACTGCTTCACAACATCATTCGTTCCACTGTCTCATGTAGGGTT TGATTTAAAAAAAGAATGAGTTGTTTGTGATGAAAACAGCAACAGGTGCA GTGGCTCACACCCATTATCCCAG	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG00673.hp2 HG02015.hp1 NA18974.hp1 others(7): Show HG00673.hp2 HG02015.hp1 NA18974.hp1 NA18979.hp1 NA18986.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19075.hp2 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0126 a0002c0003t0001g0128 others(4): Show a0002c0003t0001g0016 a0002c0003t0001g0126 a0002c0003t0001g0128 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0199	10	448	0.0223	-772	c.105 others(13): Show c.1057-559_1269del	p.Val others(13): Show p.Val353_Asp424del	TUBA3C	ENSG00000198033.13	transcript	ENST00000400113.8	protein_coding	5/5	1346/1521	1057/1353	353/450			chr13	TogoVar
ADARB2_chr10_1172313_1742525	1239428	TCCCCTCT others(764): Show TCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGT TCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0073 a0001c0003t0040g0073	1	106	0.0094	-771	c.136 others(19): Show c.1361+1932_1361+2702del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
NECTIN2_chr19_44841297_44894223	44862268	CACTGTGT others(764): Show CACTGTGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGA TGGCACCACTGCACTCAGGCCTGGGCAAAAGAGTGAGACTCCGTCTCAAA AAAAAAAAAGAAAAGAAAAAAGAAACCTGCACATGTATCCTGGAACAATA AAAAAAAAAAAGAAAGAAAATGTGGTATATGTCTACCATGGAATACTACA CAGCCATAAAAAAGGATGGGATCATGTCTTTTGCACCAACACGGATGGAA CTGGAGGCCATTATCCTGAGTAAAATAGAAAGTCAAATACCACATGTTCT CACTTATAAGTGGAATCTAAACAGCAGATACACAAAGATTGGAATAATGG ACAGTGGAGACTACAAAAGGTGGGAGGGAGGGAAACAGGTGAGGGTTGAA AAATTAACTGTTGGAGGCTGGGCACAGTGGCGCACACCTATAATCCCAGC ACTTTGGGAGGCCGACACGGGTGGATCACGAGGTCAGGCGTTCGAGGCCA GCCTGGCCAACATAGTGAAAACCCATCTCTATTAAAAATATTAAAAAATT GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGCCCGA GGCGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAATTAGC CGGGCATGGTAGTGTGCGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	372	0.0027	-771	c.89- others(15): Show c.89-3002_89-2232del		NECTIN2	ENSG00000130202.10	transcript	ENST00000252483.10	protein_coding	1/8						chr19	TogoVar
ROR2_chr9_91717601_91955228	91796780	ACCCTGGG others(764): Show ACCCTGGGCTCTGTGGGTGGGGAATGACACCCTGGGATCTGTGGGTGGGG CTGACACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGGCTCTGTGGGCG GGGCTGACACCCTGGGATCTGTGGATGGGGCTGACACCCTGGCTCTGTGG GCGGGGCTGACACCCTGGGATCTGTGGATAGGGCTGACACCCTGGGCTCT GTGGGTGGGGCTGACACCCTGGGCTCTGTGGGCGGGGCTGACACCCTGGG ATCTGTGGATGGGGCTGACACCCTGGCTCTGTGGGCGGGGCTGACACCCT GGGATCTGTGGATAGGGCTGACACCCTGGGCTCTGTGGGTGGGGCTGACA CCCTGGGCTCTGTGGGTGGGGAATGACACACTGGGCTTTGTGGGAGAGGC TGACACCCTGGGCTAGTGGGTAGAGTTGACACCATGGGGTCTGTTAGTGG GGAATGACACCCTGGGCTCTGTGGGTGGGGCTGACACCCTGCATTCTGTG GGCAGGGCTGACACCCTGGGCTCTGTGGGTGGGGAATGACACCCTGGGAT CTGTGGGTGGGGCTGACACCCTGGGCTCTGTGGGTGGGGCTGACACCCTG GGATCTGTGGATAGGGCTGACACCCTGGGCTCTGTGGGTGGGGCTGACAC CCTGGGCTCTGTGGGTGGGGAATGACACACTGGGCTCTGTGGGCGAGGCT GACACCCTGGGCTAGTGGGTGGAGTTGACACCATGGGGTCTGTTAGTGGG GAATGACACCCTGGGCTCTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0220 a0001c0009t0014g0220	1	226	0.0044	-771	c.98- others(17): Show c.98-21733_98-20963del		ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8						chr9	TogoVar
SLC16A14_chr2_230029982_230073924	230069820	TTCTGCCC others(764): Show TTCTGCCCCCACCCCTGTCCACTTTTAAGGACCCTGGGGATTACATTGAG TCCAATGAGATAATCCAGATAATCTCTCTATTTTAAGGTCAGCTGATTAG CAACCTTAATTCCATCTGCAACCTTAATTCCCCTCTTGCCATGTAAGGTA ACAAATTCACATGTTCCAGGGATTAGGATGTGGACATCTTTGGGAGACCA TTATTCTGCCTACCACAGATTTCCTTCTTTCTTCTTTTCCTTTTTCTTTT CTTCCTTCTTTTTCGTTTCTTTGAAAAAAAATTCACATGTATTTCACATT GCCTTCCTCGGTCACCCAAGCTGGAGTGCAGTAGCATGATCACAGCTCAT TGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTG AGTAGCTGGGACTACAGGCACACGCCACCATGCCTGGCTAATTTTTTTGA CTTTTTATAGAGACGGAGTCTCATTATATTGCCCAGACTGGTCTTGACCT TTTGGACTCAAGTGATCTGGCTGCCTCACCCTCCCAAAGTGCTGGGATTA CAGGCATGAGCCGCTGCACCCGGCCTATATTGCTATTTCTTATATCAATT CTGTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTCACTCTGT CACCCAGGCTAGAGTGCAGTGGCAATCTTGGCTCACTACAACATCTGCTT CCCAGGTTCAAGCAATTCTCCTGCCTCAGCATCCCAAGTAGCTGGGGTTA TAGGAGCGTGCCACCATGCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	420	0.0024	-771	c.-20 others(11): Show c.-2051_-1281del		SLC16A14	ENSG00000163053.11	transcript	ENST00000295190.9	protein_coding					897		chr2	TogoVar
VTI1B_chr14_67642085_67679632	67662845	ATGAGCCG others(764): Show ATGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAATAGAGCAAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAGAATGTTTACCAATAGTGACTCT CTGAAACCCCTCACCACTCCCACAGTGAACCACTTCTATGTTAACTCGTA CACTACTTTTCTGCAAAATAAAAATTCCACCTACTCGGCTTGCTGAGAGG CTGTCTGGTGTGGTGCTTGTTTTTCTCTGGGTGTGGCACCGGCAATGACT TGAACGATGAGAACGTTATTCATTCCCCTTTCAGCCTTTCCCATTCTGTC CCTTTGGTTGAGTGTATCTTTAATACCTAAAAATTACTAATCTCCCCTTT GAACAAAAATAGAACAGGCTTCAGCTTCAAAACAAACATCTAACTAAAAC AGTATTGTCTTAATTGTATTTTCTGATAGTTTATACTACAGGTTTTCCAT CTAAAATATGATAGCAAGTTTCATTTTTAAATAACATTGTTTTAAATAAA TGTATTTTACATGAAATAAGTTGACATAAAGAAAATGTAAGTGACAAGGC TGGGCACGGTGACTCACGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGC GGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGCCTAACACGGTGA AACCCCATCTCTACTAAAAAATACAAAAAATTAGCCTGGTGTGGTGGTGG GCGCCTGTATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGA ACCCAGGAGGCGGAGCTTGCAG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA20300.hp2 HG01952.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	2	446	0.0045	-771	c.116 others(16): Show c.116-1081_116-311del		VTI1B	ENSG00000100568.11	transcript	ENST00000554659.6	protein_coding	1/5						chr14	TogoVar
DBNDD1_chr16_89999871_90024456	90003433	CGGTGGGA others(763): Show CGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGC ACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCTACCTTTA CATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTAC CTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGG GCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCCCCGG CCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCC CCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTC CCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGT GACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACT TCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCG GGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTG GGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGC ACGTGGGGCGGGACTTCTTTGACTCCCTCCCCCGGCCCGGGCCACCTTTA CGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCAC CTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGG GCCACCTTTACGTGCACGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0127 a0001c0001t0008g0127	1	412	0.0024	-770	c.21 others(11): Show c.2132_*2901del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1437		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003470	TACCTTTA others(763): Show TACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTTTGACTCCCTCCCCCGGCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCC TGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGA CTCCCTCCCCTGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03453.hp2 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0116 a0001c0001t0001g0055 a0001c0001t0001g0116	2	412	0.0049	-770	c.20 others(11): Show c.2095_*2864del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1400		chr16	TogoVar
DDX51_chr12_132131594_132149319	132135463	CCCGAGTG others(763): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTG CCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGC TCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACC TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGC CCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACC TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-770	c.30 others(11): Show c.3039_*3808del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1130		chr12	TogoVar
FOXK2_chr17_82514732_82609602	82579819	ATGAAGTA others(763): Show ATGAAGTAGCTCCATCCACAGGTCCCAGATCCCTCCCACACATGGCCTAG CCCACCTCTCCATGTCGCCCATGAAGTAGCTCCATCCACAGGGCCCAGAT CCCTCCCACACATGGCCCAGCCCTCCTCTCCATGTCGCCCATGAAGTAGC TCCATCCACAGGGCCCAGATCCCTCCCACACATGGCCTAGCCCACCTCTC CATGTCGCCCATGAAGTAGCTCCATCCACAGGGCCCAGATCCCTCCCACA CATGGCCTAGCCCTCCTCTCCATGTCACCCGTGAAGTAGCTCCATCCACA GGGCCCAGATCCCTCCCACACATGGCCTAGCCCTCCTCTCCATGTCGCCG GTGAAGTAGCTCCATCCACAGGGCCCAGATCCCTCCCACACATGGCCCAG CCCACCTCTCCATGTCACCATGAAGTAGCTCCCATCCACAGGGCCCAGAT CCTTCCCACACATGGCCCAGCCCTCCTCTCCATGTCACCCATGAAGTAGC TCCATCCACAGGGCCCAGATCCCTCCCACACATGGCCCAGCCCACCTCTC CATGTCACCCATGAAGTAGCTCCATCCACAGGGCCCAGATCCCTCCCACA CATGGCCCAGCCCACCTCTCCATGTCACCCATGAAGTAGCTCCATCCACA GGGCCCAGATCCCTCCCACACATGGCCCAGCCCTCCTCTCCATGTCACCC GTGAAGTAGCTCCATCCACAGGGCCCAGATCCCTCCCACACATAGCCCAC CCCTCCTCTCCATGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	308	0.0033	-770	c.910 others(17): Show c.910-2900_910-2131del		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
HTR2C_chrX_114579086_114915061	114832282	CCTTGGGC others(763): Show CCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAG CATGGAATGTTCTTCCATTTGTTTGTATCCTCTTTTATTTCCTTGAGCAG TGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGA TTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACTC ATGATTTGTCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGA TTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATGA CCTTAAGGAGATTTTGGGCTGAGACAATGGGGTTTTCTAGATATACAATC ATGTCGTCTGCAAACAGGGGCAATTTGACTTCCTCTTTTCCTAATTGAAT ACCCTTTATTTCTTTCTCCTGCCTAATTGTCCTGGCCAGAACTTCCAACA CTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGTCTTGTGCCAGTT TTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGT GGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCCCATCAATAC CTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAG GCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCT GTTTATATGCTGGATTACAATTATTGATTTGCATATATTGAACCAGCCTT GCATCCCAGGGATGAAGCCCA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0055 a0002c0002t0005g0055	1	176	0.0057	-770	c.350 others(19): Show c.350-15716_350-14947del		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
LMF1_chr16_848634_975984	953215	CCACCCCA others(763): Show CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCTTCCTACACGTTCACACAGACACGG ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTTCACACAGACACGGACCCCACACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACAC CCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCT ACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAG CCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACATGTCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0099 a0001c0020t0001g0099	1	294	0.0034	-770	c.503 others(16): Show c.503+372_503+1141del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
MAD1L1_chr7_1810795_2237945	2035383	CGGGACAG others(763): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGG CATGAGCGCGGGAGCACTGACAAGTGGGGACAGAGCTGGGGTCCAGGCTC CCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGGGTCCA GGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAGCTGGG GTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGACAGAG CTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGTCGGGA CAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGACAAGT CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTTGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGA GCGCGGGAGCACTGACAAGTG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0098 a0001c0004t0001g0098	1	264	0.0038	-770	c.121 others(21): Show c.1219-21511_1219-20742del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18						chr7	TogoVar
OR2W3_chr1_247890587_247901531	247891513	ATGTTGTG others(763): Show ATGTTGTGTCATTGTTCTTGTTGGTTTCAAAGAACATCTTTATTTCTGCC TTCTTTTTGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTT CCATGTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTT TGATTGCACTGTGGTCTGAGAGATAGTTTGTTACAATTTCTGTTCTTTTA CATTTGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATA GGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGA GAGTTCTGTAGATGTCTATTAGGTCCGCTTGGTGCAGAGCTGTGTTCAAT TCCTGGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGA CAGTAGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTC TTTGTAGGTCACTCAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTG GGTGCATATATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCTTT ACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAA GTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTC CATTTGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTG TCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTG ACTTTTTATCCAACTTGCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(61): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG01074.hp1 HG01109.hp1 HG01192.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02148.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03831.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA21309.hp2	a0000 a0001 a0002 others(8): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0016 a0020 a0025	a0000c0005 a0001c0002 a0001c0003 others(10): Show a0000c0005 a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0016 a0004c0006 a0005c0013 a0006c0007 a0008c0010 a0016c0029 a0020c0033 a0025c0020	a0000c0005t0000 a0001c0002t0000 a0001c0003t0000 others(10): Show a0000c0005t0000 a0001c0002t0000 a0001c0003t0000 a0002c0001t0000 a0003c0004t0000 a0003c0016t0000 a0004c0006t0000 a0005c0013t0000 a0006c0007t0000 a0008c0010t0000 a0016c0029t0000 a0020c0033t0000 a0025c0020t0000	a0000c0005t0000g0000 a0001c0002t0000g0000 a0001c0003t0000g0000 others(10): Show a0000c0005t0000g0000 a0001c0002t0000g0000 a0001c0003t0000g0000 a0002c0001t0000g0000 a0003c0004t0000g0000 a0003c0016t0000g0000 a0004c0006t0000g0000 a0005c0013t0000g0000 a0006c0007t0000g0000 a0008c0010t0000g0000 a0016c0029t0000g0000 a0020c0033t0000g0000 a0025c0020t0000g0000	64	388	0.1650	-770	c.-40 others(11): Show c.-4073_-3304del		OR2W3	ENSG00000238243.3	transcript	ENST00000360358.3	protein_coding					4073		chr1	TogoVar
PITPNM3_chr17_6446263_6561555	6560785	CTCCTCCT others(763): Show CTCCTCCTTCTCCTCCTCTTCCTCCTCCTTGTCTTCTTCCTCTTCTTCTT CCTCCTCCTCCCCTCCTTTTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCT CCTCCGCCCCTCCTCTTCCTCCTTCTCATCCTCCTTCTCTCCTCTTCCTC CTTTTCCTCCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCCCTCTTCTTCC TCCTTCTCTTCATTCTCCCCTCCTCCTCCTCTTCCTCCTCCTTCTCCCTT CCTCTTCCTCCTTCTCCTCTTCATTCTCCCCTCCTCCTCCTCTTCCTCCT CCTTCTCCCTTCCTCTTCCTCCTTCTCCTTCTCCCCCCTCCTTCCCTCCT CTTCCTCCTTCTCCTCCTCCTCCCCCCTTCCTCCTCTTCCTCCTCCCCTC CCCCTCCTCTTCCTCCTCCCCTCCCCCTCCTCTTCCTCCTCCTCTCCCTT CCTCTTCCCCTTCCTCCTTCTCCTCTTCCTTCTCCCCTCCTCCTCCTCTT CCTCCTCCTTCTCCCTTCTTCTGCCTCTTCCTCCTTCTCTTCTTTCTCCC CTCCTCCTCCTCTTCCTTCTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCT CTTCCTCCTCCTTCTCTTTGTTCTCCCCTCCTCCTCTTCCTCCTCCTTCT CCCTTCCTCTTCCTCCTTCTCCTCTTCTTTCTCCCCTCCTCCTCTTCCTC CTCCTCCTCCTCCTCTTCCTCCTTCTCCCCTCCTCCTCCCCTCCTCCTCT TCCTCATCCTCCTCCCCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0153 a0001c0001t0022g0153	1	218	0.0046	-770	c.-51 others(11): Show c.-5149_-4380del		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding					4231		chr17	TogoVar
RPH3AL_chr17_207389_357807	287501	TCTCTCTC others(763): Show TCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTC CACCGACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTC TCTCCACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCC TCTCTCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACAC TCTCTCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGA CCTCACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACC GTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGGCCTCACACCCTCTC TCCACCGTCAGACCTCACACC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG02074.hp1 others(12): Show HG00544.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02155.hp1 NA18940.hp1 NA18947.hp2 NA18959.hp1 NA18983.hp1 NA18995.hp2 NA19004.hp2 NA19005.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0034 a0001c0004t0001 a0001c0004t0026 a0001c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0002g0029 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0111 a0001c0001t0003g0081 a0001c0001t0011g0003 a0001c0001t0011g0007 a0001c0001t0011g0056 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0034g0018 a0001c0004t0001g0078 a0001c0004t0026g0013 a0001c0008t0001g0044	15	133	0.1128	-770	c.352 others(17): Show c.352-6417_352-5648del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SLC12A8_chr3_125077644_125217748	125171205	TGAAAGAT others(763): Show TGAAAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAG GCAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCAT TACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACA TGCACACATATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACGCCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC GCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAACATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAATTAAAAAAAAAAAAAGAAAATTAAAAAGTA AAAAAAAAAAAAAAAAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(300): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0008 a0001c0014 others(25): Show a0001c0001 a0001c0008 a0001c0014 a0001c0017 a0001c0023 a0001c0028 a0002c0002 a0002c0018 a0003c0003 a0003c0022 a0003c0025 a0004c0004 a0004c0011 a0005c0005 a0005c0013 a0006c0006 a0006c0015 a0007c0009 a0008c0010 a0009c0007 a0010c0012 a0011c0029 a0013c0024 a0014c0026 a0015c0027 a0016c0020 a0017c0019 a0018c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(63): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0008t0002 a0001c0008t0004 a0001c0014t0002 a0001c0017t0003 a0001c0023t0003 a0001c0028t0004 a0002c0002t0001 a0002c0002t0009 a0002c0002t0012 a0002c0002t0024 a0002c0018t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0010 a0003c0003t0019 a0003c0003t0023 a0003c0022t0002 a0003c0025t0027 a0004c0004t0001 a0004c0011t0001 a0004c0011t0025 a0005c0005t0001 a0005c0005t0026 a0005c0013t0001 a0006c0006t0002 a0006c0006t0003 a0006c0006t0004 a0006c0015t0004 a0006c0015t0011 a0007c0009t0003 a0007c0009t0004 a0007c0009t0014 a0008c0010t0002 a0008c0010t0003 a0008c0010t0010 a0009c0007t0002 a0009c0007t0003 a0010c0012t0009 a0011c0029t0016 a0013c0024t0009 a0014c0026t0001 a0015c0027t0003 a0016c0020t0003 a0017c0019t0001 a0018c0016t0004	a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0032 others(299): Show a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0339 a0001c0001t0003g0027 a0001c0001t0003g0038 a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0064 a0001c0001t0003g0124 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0195 a0001c0001t0003g0202 a0001c0001t0003g0208 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0220 a0001c0001t0003g0236 a0001c0001t0003g0258 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0279 a0001c0001t0003g0304 a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0004g0044 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0062 a0001c0001t0004g0066 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0109 a0001c0001t0004g0113 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0137 a0001c0001t0004g0204 a0001c0001t0004g0217 a0001c0001t0004g0230 a0001c0001t0004g0252 a0001c0001t0004g0260 a0001c0001t0004g0273 a0001c0001t0004g0302 a0001c0001t0004g0306 a0001c0001t0004g0333 a0001c0001t0005g0105 a0001c0001t0005g0143 a0001c0001t0005g0162 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0005g0267 a0001c0001t0006g0023 a0001c0001t0006g0079 a0001c0001t0006g0141 a0001c0001t0006g0155 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0007g0002 a0001c0001t0007g0099 a0001c0001t0007g0106 a0001c0001t0007g0226 a0001c0001t0007g0341 a0001c0001t0008g0076 a0001c0001t0008g0122 a0001c0001t0008g0125 a0001c0001t0008g0266 a0001c0001t0008g0303 a0001c0001t0008g0330 a0001c0001t0008g0331 a0001c0001t0010g0345 a0001c0001t0010g0354 a0001c0001t0010g0355 a0001c0001t0010g0360 a0001c0001t0011g0013 a0001c0001t0011g0017 a0001c0001t0011g0231 a0001c0001t0011g0238 a0001c0001t0013g0085 a0001c0001t0013g0168 a0001c0001t0013g0190 a0001c0001t0013g0198 a0001c0001t0014g0036 a0001c0001t0014g0084 a0001c0001t0015g0344 a0001c0001t0017g0283 a0001c0001t0020g0088 a0001c0001t0021g0021 a0001c0001t0022g0199 a0001c0001t0028g0346 a0001c0001t0029g0361 a0001c0008t0002g0210 a0001c0008t0004g0314 a0001c0014t0002g0005 a0001c0017t0003g0225 a0001c0023t0003g0270 a0001c0028t0004g0052 a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0061 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0107 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0132 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0167 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0211 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0229 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0256 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0285 a0002c0002t0001g0288 a0002c0002t0001g0294 a0002c0002t0001g0297 a0002c0002t0001g0301 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0332 a0002c0002t0009g0153 a0002c0002t0009g0221 a0002c0002t0012g0356 a0002c0002t0024g0040 a0002c0018t0001g0274 a0003c0003t0002g0096 a0003c0003t0002g0140 a0003c0003t0002g0147 a0003c0003t0002g0205 a0003c0003t0002g0224 a0003c0003t0002g0248 a0003c0003t0002g0250 a0003c0003t0002g0255 a0003c0003t0002g0284 a0003c0003t0003g0218 a0003c0003t0003g0246 a0003c0003t0003g0289 a0003c0003t0004g0245 a0003c0003t0004g0293 a0003c0003t0005g0286 a0003c0003t0007g0287 a0003c0003t0010g0351 a0003c0003t0019g0200 a0003c0003t0023g0334 a0003c0022t0002g0081 a0003c0025t0027g0347 a0004c0004t0001g0014 a0004c0004t0001g0016 a0004c0004t0001g0103 a0004c0004t0001g0112 a0004c0004t0001g0251 a0004c0011t0001g0078 a0004c0011t0025g0110 a0005c0005t0001g0232 a0005c0005t0026g0004 a0005c0013t0001g0080 a0005c0013t0001g0134 a0006c0006t0002g0127 a0006c0006t0003g0070 a0006c0006t0004g0001 a0006c0006t0004g0009 a0006c0006t0004g0114 a0006c0015t0004g0006 a0006c0015t0011g0043 a0007c0009t0003g0111 a0007c0009t0004g0104 a0007c0009t0014g0228 a0008c0010t0002g0340 a0008c0010t0003g0249 a0008c0010t0010g0350 a0009c0007t0002g0041 a0009c0007t0002g0277 a0009c0007t0003g0028 a0010c0012t0009g0253 a0010c0012t0009g0254 a0011c0029t0016g0352 a0013c0024t0009g0329 a0014c0026t0001g0313 a0015c0027t0003g0175 a0016c0020t0003g0323 a0017c0019t0001g0093 a0018c0016t0004g0094	303	362	0.8370	-770	c.622 others(17): Show c.622+5768_622+6537del		SLC12A8	ENSG00000221955.11	transcript	ENST00000469902.6	protein_coding	5/13						chr3	TogoVar
C1R_chr12_7075219_7097445	7083650	GNNNNNNN others(762): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(222): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0012 a0013 a0015	a0001c0001 a0001c0005 a0001c0006 others(15): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0002c0013 a0003c0003 a0003c0009 a0003c0022 a0004c0004 a0005c0007 a0005c0019 a0006c0008 a0008c0011 a0010c0017 a0011c0015 a0012c0020 a0013c0014 a0015c0012	a0001c0001t0001 a0001c0005t0002 a0001c0006t0001 others(16): Show a0001c0001t0001 a0001c0005t0002 a0001c0006t0001 a0002c0002t0001 a0002c0002t0003 a0002c0013t0001 a0003c0003t0001 a0003c0009t0002 a0003c0022t0001 a0004c0004t0001 a0005c0007t0001 a0005c0019t0001 a0006c0008t0001 a0008c0011t0001 a0010c0017t0001 a0011c0015t0001 a0012c0020t0001 a0013c0014t0001 a0015c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(149): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0005t0002g0039 a0001c0005t0002g0190 a0001c0005t0002g0193 a0001c0005t0002g0200 a0001c0005t0002g0211 a0001c0006t0001g0017 a0001c0006t0001g0166 a0001c0006t0001g0176 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0035 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0167 a0002c0002t0001g0187 a0002c0002t0001g0198 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0003g0197 a0002c0013t0001g0061 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0026 a0003c0003t0001g0032 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0084 a0003c0003t0001g0086 a0003c0003t0001g0108 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0115 a0003c0003t0001g0117 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0127 a0003c0003t0001g0131 a0003c0003t0001g0182 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0219 a0003c0003t0001g0235 a0003c0009t0002g0118 a0003c0009t0002g0152 a0003c0022t0001g0218 a0004c0004t0001g0003 a0004c0004t0001g0005 a0004c0004t0001g0015 a0004c0004t0001g0077 a0004c0004t0001g0078 a0004c0004t0001g0104 a0004c0004t0001g0107 a0005c0007t0001g0013 a0005c0007t0001g0074 a0005c0019t0001g0150 a0006c0008t0001g0038 a0006c0008t0001g0053 a0006c0008t0001g0186 a0008c0011t0001g0087 a0010c0017t0001g0051 a0011c0015t0001g0175 a0012c0020t0001g0158 a0013c0014t0001g0096 a0015c0012t0001g0052	225	320	0.7031	-769	c.127 others(19): Show c.1273+1442_1274-1545del		C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10						chr12	TogoVar
EGFR_chr7_55014017_55216628	55166662	GTGAGGAG others(762): Show GTGAGGAGGTGGGAGTCACAATGGTGGTGGTGATGGTGTTGATGGTGGTG AGGAGGTGGGAGTCACAATGGTGGTAGTGATGATGGTGTTGATGGTGGTG AGGAGGTGAGAGTCACAATGTTGGTGGTGTTGGTGGTGGTGGTGGTGAGG AGGTGGGAGTCACAATGGTGGCAGTGTTGGTGGTGAGGAGGTGGGAGTCA CAATGGTGGTAGTGATGATGGTGTTGATGGTGGTGAGGAGGTGAGAGTCA CAATGTTGGTGGTGTTGATGGTGGTGATGGTGATGAGGAGGTGGGAGTCA CAATGGTGGTGATGAGGGTGGTGATGATGATGAGGAGGTGGGAGTCACAA TGGTGTCAGTGTTGATGGTCCGATGGTGATGAGGAGGTGGGAGTCACAAT GTTGGTGGTGTTGATGGTGGTGATGATGATGAGGAGGTGGGAGTCACAAT GGTGTCAGTGTTGATGGTGGCGATGGTGATGAGGAGGTGGGAGTCACAAT GGTGGTGGTGATGACGGTGTTGACAGTGGTGACGAGGCGGGAGTCACAAT GGTGTCGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGT GGTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGT GTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGT GTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGT GATGAGGGTGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00639.hp1 others(51): Show HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01884.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18949.hp2 NA18964.hp2 NA18965.hp2 NA18977.hp1 NA18983.hp1 NA19043.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0022 a0001c0023 a0001c0024 a0001c0034 a0001c0035 a0001c0040 a0002c0018 a0002c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0003t0027 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0008 a0001c0005t0020 a0001c0005t0032 a0001c0007t0005 a0001c0007t0046 a0001c0012t0057 a0001c0013t0053 a0001c0013t0061 a0001c0015t0001 a0001c0016t0001 a0001c0016t0002 a0001c0016t0017 a0001c0022t0001 a0001c0022t0054 a0001c0023t0024 a0001c0024t0001 a0001c0034t0036 a0001c0035t0003 a0001c0040t0007 a0002c0018t0007 a0002c0038t0001	a0001c0001t0001g0081 a0001c0001t0002g0024 a0001c0001t0002g0034 others(51): Show a0001c0001t0001g0081 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0103 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0011g0021 a0001c0001t0011g0023 a0001c0001t0011g0039 a0001c0001t0011g0185 a0001c0001t0011g0189 a0001c0001t0011g0207 a0001c0001t0026g0121 a0001c0001t0027g0176 a0001c0001t0034g0196 a0001c0003t0027g0177 a0001c0004t0001g0006 a0001c0004t0003g0118 a0001c0004t0004g0142 a0001c0005t0001g0152 a0001c0005t0001g0153 a0001c0005t0003g0011 a0001c0005t0003g0017 a0001c0005t0003g0038 a0001c0005t0003g0119 a0001c0005t0003g0186 a0001c0005t0004g0112 a0001c0005t0004g0129 a0001c0005t0008g0163 a0001c0005t0020g0168 a0001c0005t0032g0237 a0001c0007t0005g0004 a0001c0007t0046g0020 a0001c0012t0057g0179 a0001c0013t0053g0135 a0001c0013t0061g0107 a0001c0015t0001g0027 a0001c0015t0001g0111 a0001c0016t0001g0055 a0001c0016t0001g0193 a0001c0016t0002g0187 a0001c0016t0017g0040 a0001c0022t0001g0019 a0001c0022t0054g0212 a0001c0023t0024g0208 a0001c0024t0001g0191 a0001c0034t0036g0240 a0001c0035t0003g0003 a0001c0040t0007g0194 a0002c0018t0007g0132 a0002c0038t0001g0093	54	250	0.2160	-769	c.188 others(19): Show c.1880+1246_1880+2014del		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
ENTPD2_chr9_137043107_137059061	137047167	GCCCACCC others(762): Show GCCCACCCCATCCCACTAGAAACCTCCTTTGACTAGTCATTCAGAGAACA AGAGTGAGACCTCCAACCCGGGGTGTCCCCTTGGTCCTTCCAGTCTCAGA ACTCCAAAGCTGGGGCTGGCTGCCCTCAGGTTTATCAAATGACTTTAAAA AAAAATGGTGAAGAGGGGAGGGAAGAGCAGAATAAGAACCACCACCCTCC TCGCCAGGGCACTGAGCATAGAGACAGTGTCTAAGCTCACTTCCCAGGAA GGTGAGGAGGCGAGTGGGCAAGACCAGGCCTTCCCATCCTGGAGAAAACT GGCTTGGGGAGGGGCTGCAGGGCCTGGCTGGGGCTGCAGGATGCCTTTTG GAGGTGCAGGACACTCAGTCCCAGGTGAGAAGGGCAAGGTGCCCTGTGCC ATTGCATGGCTCAGCTCCACAGCCAGGTTCTGTGCAAGATTCCTGCCTAT GGGTCCTGGTCCTGATCTCATCTCCCACCCCTGTGCCACCTCCTGATGTG GGCCTGCCCTCCCGCCAGTCTCTACCAGCACTGACTGCCCCCTAGGAAGC CGCCTGGCTGGCTGCCACCCACTCTCCGCCACCTCCCTGACCTCTACCCT CACCCCCAGGCTCACTGTACCAGGACCCAACCTTCAGTCTGGCCTTGGTC ACCAACGCAGATCTGGATGTGATGGTTTTGGGGAACTCTGCTGGCCAGAG AAGACTCAAGGGCCCAGGAACATTCCCTCGGGCCAGCCATCCTGCAGCTA CTCTAGGCTGCCACGGCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0054 a0010c0019t0001g0054	1	400	0.0025	-769	c.72 others(10): Show c.721_*1489del		ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding					939		chr9	TogoVar
GRTP1_chr13_113319163_113369130	113346643	AGCGGACC others(762): Show AGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTG TGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAG CAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTG TGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCG GATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTG GCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAG GACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGA CCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC AGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGA CCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGA CCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGC TGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACC CGGGAGGACCTCTGTGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	288	0.0035	-769	c.466 others(17): Show c.466-2453_466-1685del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
MAEA_chr4_1284891_1345137	1320538	AATCATCA others(762): Show AATCATCAAAGCAAACCTGCAAGAAAATGCTATGAAGGGGCTTCAGAAAA GAAATCAAAGCAAACGTGCAAGAAAACGCTATGGAGGGGCATCAGAAAAG AAATAATCAAAGCAAACGTGCAAGAAGACACTATGAAGGGGTTTCAGAAA AGAAATCATCAACATGAACATGCAAGAAGACGCTATGAAGGGGCTTCAGA AAAGAAATCATCAAAGCGAACATGCAAGAAAACGCTATGAAGGGGCTTCA GAAAAGAAATCATCAAAGCAAACATGCAAGAGGCCGGGCACGGTGGCTCA CGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGTGGGCAGATCACGAGTT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTA AAAATACAAAAATTTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGC TACCCGGGAGGCCAAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCT TGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGGGCGGCAGAGCG AGACTCCGTCTCAAAAAAACAAACAAAAGCACACATGCAAGAAAATGCTT TGAAGGGGCTTCAGAAAAGAATAATCAACATGCAAGAAAACGCTATGAAG GGGCTTCAGAAAAGAAATCATCAAAGCAAATGTGCAAGAAAACGCTATGA AGGGGCTTCAGAAAAGAAATCATCAAAGCAAACGTGCAAGAAAACGCTAT GAAGGGGCTTTAAAAAAGAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03491.hp1 HG03492.hp2 HG02040.hp1 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0009 a0001c0001t0015	a0001c0001t0009g0005 a0001c0001t0015g0171 a0001c0001t0009g0005 a0001c0001t0015g0171	3	388	0.0077	-769	c.457 others(17): Show c.457-1827_457-1059del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MREG_chr2_215937584_216018551	215993961	GTGGGAGT others(762): Show GTGGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCGATTCC TCAAGGATCTAGAACCAGAAATACCATTTGACCCAGCAATCCCATTACTG GGTATATACCCAAAGGATTATAAATCATTCTACTATAAAGGCACATGCAC ATGTATGTTTATCGCAACACTGTTCACAAAAGCAAAGATTTGGAACCAAC CCAAATGCCCATCAATGATAGACTGCATAAAGAAAATGTGGCACATATAC TCCATGGAATACTATGCAGCCATAAAAATGGATGAGTTCATGTCCTTTGC AGGGACATGGATGAAGCTGAAAACCATCATTCTCAGCAAACTAACACAGG AACAGAAAACCAAACACCACATGTTCTCACTCATAAGTGGGAGCTGAAAA ATGAGAACACAGGGACACGGGGAGGGGAACGTCACACACTTGGGCCTGTC AGGGGGTGGGGGCCTAGGGGAGGGATGGCATTCGGAGAAATACCTATTGT AGATGACAGGTTGATGGGTGAGCAAACCACCATGGCACGTGTATACCTAT GTAACCTGCACATTCTGCAGATGTATCCCAGAACTTAAAGTATAATTTTA AAAAAAAAGAGGGAGAAGAGGGAGAAGGGGAAGAAGAAGGAGAAGAAGAG GAAGAAGAAGAGAAGAAGGAGGGGGAGGAGGAGGAGGAAGCTTCTGGAGG ACCCATCACACCAAGCCCAAGGACCAGCACAAAAAAGACACAATGGGCCA CTTTAGAAGCTGTGCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG03486.hp1 others(2): Show HG01891.hp1 HG02258.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0056 a0001c0001t0001 a0001c0001t0002 a0001c0001t0056	a0001c0001t0001g0117 a0001c0001t0001g0149 a0001c0001t0002g0035 others(2): Show a0001c0001t0001g0117 a0001c0001t0001g0149 a0001c0001t0002g0035 a0001c0001t0002g0081 a0001c0001t0056g0151	5	416	0.0120	-769	c.255 others(17): Show c.255+1576_255+2344del		MREG	ENSG00000118242.17	transcript	ENST00000263268.11	protein_coding	2/4						chr2	TogoVar
NPDC1_chr9_137034463_137051177	137047167	GCCCACCC others(762): Show GCCCACCCCATCCCACTAGAAACCTCCTTTGACTAGTCATTCAGAGAACA AGAGTGAGACCTCCAACCCGGGGTGTCCCCTTGGTCCTTCCAGTCTCAGA ACTCCAAAGCTGGGGCTGGCTGCCCTCAGGTTTATCAAATGACTTTAAAA AAAAATGGTGAAGAGGGGAGGGAAGAGCAGAATAAGAACCACCACCCTCC TCGCCAGGGCACTGAGCATAGAGACAGTGTCTAAGCTCACTTCCCAGGAA GGTGAGGAGGCGAGTGGGCAAGACCAGGCCTTCCCATCCTGGAGAAAACT GGCTTGGGGAGGGGCTGCAGGGCCTGGCTGGGGCTGCAGGATGCCTTTTG GAGGTGCAGGACACTCAGTCCCAGGTGAGAAGGGCAAGGTGCCCTGTGCC ATTGCATGGCTCAGCTCCACAGCCAGGTTCTGTGCAAGATTCCTGCCTAT GGGTCCTGGTCCTGATCTCATCTCCCACCCCTGTGCCACCTCCTGATGTG GGCCTGCCCTCCCGCCAGTCTCTACCAGCACTGACTGCCCCCTAGGAAGC CGCCTGGCTGGCTGCCACCCACTCTCCGCCACCTCCCTGACCTCTACCCT CACCCCCAGGCTCACTGTACCAGGACCCAACCTTCAGTCTGGCCTTGGTC ACCAACGCAGATCTGGATGTGATGGTTTTGGGGAACTCTGCTGGCCAGAG AAGACTCAAGGGCCCAGGAACATTCCCTCGGGCCAGCCATCCTGCAGCTA CTCTAGGCTGCCACGGCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0120 a0001c0002t0003g0120	1	402	0.0025	-769	c.-19 others(11): Show c.-1947_-1179del		NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding					991		chr9	TogoVar
NPIPB4_chr16_21829582_21862756	21835126	CCCCCGCA others(762): Show CCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTG GAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGA TTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGT CTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGA GCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGC GGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGG TGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGA GATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGT GTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGT GAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAA GCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAG GGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTT GAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAG GTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGA GTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGG AAGCGGCCCCCGCAGACGCT	C C	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00544.hp2	a0040 a0040	a0040c0039 a0040c0039	a0040c0039t0001 a0040c0039t0001	a0040c0039t0001g0124 a0040c0039t0001g0124	1	204	0.0049	-769	c.249 others(9): Show c.2492_3260del	p.Glu others(5): Show p.Glu831fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3475/4020	2492/3669	831/1222			chr16	TogoVar
TBC1D20_chr20_430480_467533	453339	CGGCGCAT others(762): Show CGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATT GCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCTATATG CCACTGCACTCTAGCCTGGGCGACAAGAGCGAAACTCCGTCTCAAAAACA ACAACAACAACGACAGCAACCACGGACGGTGGCTCGTGCCTGTAATCCAG CATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTATTGCCC AGACTGGAGTGCAGAGGCGCAATCTCGGCTTACTGCAACCTCCACCTCCC AGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACGG GCACGTGCCACCATGCCTGGCTAATTTTTTTTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCATGTTGGTCAGGCTAGTCTCAAACTCCTGACCTCGTG ACCCGCCAGTCTCAGCCTCCCAAAGTACTGAGATTACAGGCGTGAGCCAC CACACCTGGCCTATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCACT GAGGTCAGGAGATTGAGACGAGCCTGGCCAACATGGTGAAACTCCATCTC TATTAAAAATACAATAATTAGGCCAGGTGCGGTGGCTCACGCCTGCAATT CCAGCAGTTTGGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGATCGA GACCATCTTGGCTAACACGGTGAAACCCTGTCTTTACTAAAAAAATACAA AAAAATTAGCCAGGCGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02622.hp1 others(13): Show HG01255.hp1 HG02055.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02896.hp2 HG03017.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03688.hp2 HG04199.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024	a0001c0001t0001g0169 a0001c0001t0003g0258 a0001c0001t0007g0021 others(12): Show a0001c0001t0001g0169 a0001c0001t0003g0258 a0001c0001t0007g0021 a0001c0001t0007g0162 a0001c0001t0007g0168 a0001c0001t0007g0268 a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0262 a0001c0001t0010g0263 a0001c0001t0010g0264 a0001c0001t0017g0040 a0001c0001t0019g0265 a0001c0001t0021g0226 a0001c0001t0024g0170	16	402	0.0398	-769	c.71- others(15): Show c.71-6034_71-5266del		TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding	1/7						chr20	TogoVar
TLCD2_chr17_1697816_1715377	1698855	AGAGTCTC others(762): Show AGAGTCTCGCTCTATCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCT CACTGCAAGCTCCGCCTCCTGGGTTCACTCCATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTT GTATTTTTATTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGC TCTCCTGACCTCATGATCTGCCAGCCTCGGCCTCCCAAAGTGCTGAGATT ACAGGCGTGAGCCACCGTGCCCAGCCTAGAGTCTGCCTTTCAAACTGAAA CACCCTGACTTATATATATCACTTCAGAGGCAATTTATCCGACTTGATGG ATGTTTAGTTGTCAGCTGACTCCTACCTTTCTACCTTGAAATTTCTCCAC TCTGTGGCCTTTCTATAAAGAAAGAGGCAAAATAGTGTATAGGAAAGAGC CCTGAACCAAACCAAAGACCTCGATTCTGATTCGGGCTGTGCTACAGACT AGCTGAGTATGCTTGGATAAGTCACTTAACCTCTCTAGGCTTCAGTTCCT TCAATTCTCTGCAAAATGAAAAGAACAGACTGGATAATCTTTTTTTTTTT TTGAGATGGAGTCTTGTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGAT CTTGGCTCACTGCAACCTCCACCTCTGGGGTTCAAGCTATTCTCCTGCCT CAGCCTCCCAAGTAGGTGGGACTACAGGGACCTGCCACCACACCTAGCTA ATTTTTTTTTTTTTGAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(81): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02886.hp1 HG03130.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0005c0012 a0009c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0030 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0097 a0001c0001t0098 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0019 a0001c0002t0026 a0001c0002t0043 a0001c0002t0059 a0001c0002t0067 a0001c0002t0074 a0001c0002t0078 a0002c0005t0027 a0005c0012t0013 a0009c0008t0003	a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(54): Show a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0025 a0001c0001t0003g0079 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0148 a0001c0001t0003g0154 a0001c0001t0003g0167 a0001c0001t0003g0172 a0001c0001t0003g0182 a0001c0001t0003g0214 a0001c0001t0003g0277 a0001c0001t0005g0051 a0001c0001t0005g0278 a0001c0001t0009g0007 a0001c0001t0009g0081 a0001c0001t0009g0127 a0001c0001t0009g0211 a0001c0001t0009g0239 a0001c0001t0013g0085 a0001c0001t0013g0153 a0001c0001t0013g0188 a0001c0001t0013g0213 a0001c0001t0030g0049 a0001c0001t0035g0091 a0001c0001t0035g0170 a0001c0001t0044g0073 a0001c0001t0045g0161 a0001c0001t0046g0189 a0001c0001t0052g0150 a0001c0001t0097g0247 a0001c0001t0098g0248 a0001c0002t0003g0070 a0001c0002t0003g0082 a0001c0002t0003g0110 a0001c0002t0003g0199 a0001c0002t0003g0207 a0001c0002t0003g0212 a0001c0002t0003g0266 a0001c0002t0005g0008 a0001c0002t0005g0037 a0001c0002t0005g0181 a0001c0002t0005g0274 a0001c0002t0013g0178 a0001c0002t0019g0203 a0001c0002t0026g0145 a0001c0002t0043g0179 a0001c0002t0059g0257 a0001c0002t0067g0141 a0001c0002t0074g0202 a0001c0002t0078g0229 a0002c0005t0027g0057 a0002c0005t0027g0216 a0005c0012t0013g0220 a0009c0008t0003g0084	84	451	0.1863	-769	c.81 others(11): Show c.8146_*8914del		TLCD2	ENSG00000185561.10	transcript	ENST00000330676.8	protein_coding					3960		chr17	TogoVar
ADARB2_chr10_1172313_1742525	1237016	GCCTCCCG others(761): Show GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCT CCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	106	0.0094	-768	c.136 others(19): Show c.1362-3939_1362-3172del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
DOC2B_chr17_137789_186650	167453	CATGGTCT others(761): Show CATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	339	0.0030	-768	c.454 others(17): Show c.454-4017_454-3250del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
FOXN3_chr14_89151177_89422233	89361732	ACCACCTC others(761): Show ACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAG CACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCT CCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACC ACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAG CACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCA CCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACC TCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCAC CACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCA CTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCAC CTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCA CCACCACCTCCACCACCACCACCACCACCTCCAGCACCACCTCTACCACC ACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCACCACCACCTC CACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCA CCACCACCACCTCCAGCACCAGCTCCACCACCTCCTCCTCCACCACCACC ACCACCACCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	230	0.0044	-768	c.544 others(19): Show c.544-11692_544-10925del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GALNT9_chr12_132191372_132334589	132233687	GTGGAGTC others(761): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTG GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp1 HG01192.hp2 others(9): Show HG01070.hp2 HG01099.hp1 HG01192.hp2 HG01981.hp2 HG02004.hp1 HG02083.hp1 HG03834.hp1 HG06807.hp2 NA18950.hp2 NA18999.hp1 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0027	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0005t0001 a0001c0027t0001	a0001c0001t0001g0019 a0001c0001t0001g0125 a0001c0001t0001g0136 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0002t0001g0004 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0013g0021 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0139 a0001c0005t0001g0031 a0001c0027t0001g0082	12	183	0.0656	-768	c.107 others(21): Show c.1077+13455_1077+14222del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
LPGAT1_chr1_211738457_211835763	211791718	GCCTGGGC others(761): Show GCCTGGGCAACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAACA AACAAACAAAAAAAAAAAACAAAAAAAAACATTGTTTGTGATACCCTTCT TCTACCTGCCACTAGGCTGTCAGCACCTTGATAAGATGAATTGTATCTTA CAGGATGGTGTTTACACTTCCTATAGTCACTGATCATAACTACTAAGCCC TTAATGAACTTCCATTAGGTCACACATTAACTCCATTAATTTATACACCT TATTTAGTTTTCTATGAACATAACCTCTTTAACTTCTAAGGTGATAATTC TCCTAAGGCTAAAGACTGAATTTATTTTTTAAATCCACTCAGTTTATAAA TATTTATTCTATCATAAGCAATATTCCCCCAATCTTTTGTTTTAGAGATG GGGTCTTGCTGTGCTGCCCAGGCTGGAGTGCAGTGGCTCTTCACAGGCAT GATCCCACTACTGATCAGCACAGGAGTTTTGGCCTGCTCCATTTCCACCC TGGGCTGGTTCACCCTTCTTGTGTGACCTAGTTGTTCACTGCTCCCAGGA GGTCACCATATTTATGCTCAACTTAGTGCAGACTGCCTATCAGCATAGAG AACTACAGCCCAAACTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCC CGAGTAGCTGGAACTACAAGTGGCACCACTGTGCCAGGCTAAAGCTGCTT TTTGTGTTTGTATTTTTCAAACTAGCAATCCACTGCTTCACCTCCAGACA GCCCTCAATTTGAACTATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0235	1	332	0.0030	-768	c.357 others(16): Show c.357+586_357+1353del		LPGAT1	ENSG00000123684.13	transcript	ENST00000366997.9	protein_coding	3/7						chr1	TogoVar
MUC4_chr3_195741771_195816929	195779587	GCGTGACC others(761): Show GCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGGGGGGTGGC GTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGT GACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGTCC TGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATCTG TGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTG GATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGA AGCTGAGGAAAGGCCGGTAACAGGAAGAGGGGTGGCGTGACCTGTGGATG CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACT GAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGA GGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGG AAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAA GTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGC GTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACACTGAGGAAGCGT CGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGCTG GTGACAGGAAGAGGGGTGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00280.hp2	a0178 a0178	a0178c0034 a0178c0034	a0178c0034t0002 a0178c0034t0002	a0178c0034t0002g0194 a0178c0034t0002g0194	1	249	0.0040	-768	c.112 others(11): Show c.11225_11992del	p.Val others(15): Show p.Val3742_His3997del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12104/16756	11225/16239	3742/5412			chr3	TogoVar
PLCB4_chr20_9064087_9485808	9188475	CTAGTGAC others(761): Show CTAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATAT AGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATACAG TGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTG ACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGAC ATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGTGACAT TCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACATTC TGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGACATTCTG GGTTGGTTAATTGTTCACTGTGGAGGGCTGTCATATAGTGACATTCTGGG TTGGTTAATTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTT GGTTAACTGTTCATTGTGGAGAGCTGTCATATAGTGACATTCTGGGTTGG TTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTT AACTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAA CTGTTCATTGTGGAGGGCTGTCCTATAGTGACATTCTGGGTTGGTTAACT GTTCATTGTGGAGGGCTGTCCTATAGTGACATTCTGGGTTGGTTAACTGT TCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTC ATTGTGGAGGGCTGTCCTA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG02896.hp1 others(4): Show HG01109.hp1 HG02615.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0090 a0001c0001t0002g0083 a0001c0001t0003g0040	7	140	0.0500	-768	c.-78 others(19): Show c.-78-28818_-78-28051del		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A2_chr9_19502455_19794037	19547519	ACAGCTTC others(761): Show ACAGCTTCTTTGACGTTTCAACTAGGATTACCAAGAGGATAAACACTTTG CCAGCCCTTTCTCTGAGAGTTCCTCCCAATTCTGAGAGTCAAGGGCCTTG ACTTACTGGCATCTTCCTCCCATTCCTGCACATCTTCCTGAGTGCCTCAA TGGTTGTATGCAAACATCCTCTCATCAACCAATCTGCCCCCATCTTCTGG GGGCCACACCACATGAGGCCCCTTTTGGGAATTTAGAAAACTGTATCTGT CTCCCTGATTTTCCTCCCTAGGGCCACACAAAAGCATTGGACTAAACAGC AGAGCAAGAGAGAGAGAGAGACAGACAGAGAGAGGAGAGACAATGCAAGC ATATCTTAGAAATGTCAGTGTGGTGTGAGCCAAGAAAAATCAAACACATT CAGCTATTTGGTTGTGGGTTTTCAGGAAGCCAGGCCTTTGCATAGTGCAG ATGCTGTAAAATGGTATCTTGAATAAAGAAACTTAAATATTGCTTTAAGT GAGCCACACCTGTGTCATGCATCCTTTACCAGGAAACCTATACTGCTGGG AGTCCATACAAGGAGTCCTTTCTTGTTGTCTACTTGACAAGACATGGCTC TCCACTAGGCTGCATTATTTAAGGGCCAAGGTAATGGGATGGGGTTTTTC TTCTGTCTTTTTCAAATGAAGGAGCTCTTGAAGACTTATGATAAATTATG CTGGAAGTTATCAAAATATTCTATTCCAAGTGCTTTTAGAAATGATTTTT TTTAAATGATTTTTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG03486.hp1 others(1): Show HG01891.hp1 HG02922.hp2 HG03486.hp1 HG06807.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0010 a0007c0027 a0001c0001 a0001c0010 a0007c0027	a0001c0001t0024 a0001c0010t0060 a0007c0027t0015 a0001c0001t0024 a0001c0010t0060 a0007c0027t0015	a0001c0001t0024g0078 a0001c0001t0024g0159 a0001c0010t0060g0090 others(1): Show a0001c0001t0024g0078 a0001c0001t0024g0159 a0001c0010t0060g0090 a0007c0027t0015g0161	4	188	0.0213	-768	c.147 others(19): Show c.1479+1850_1479+2617del		SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	8/10						chr9	TogoVar
SMYD3_chr1_245744347_246512279	245974869	CAGGGAAA others(761): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02004.hp2 HG02886.hp1 others(1): Show HG00140.hp1 HG02004.hp2 HG02886.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0001g0029 a0001c0002t0001g0064 a0001c0002t0002g0078 others(1): Show a0001c0002t0001g0029 a0001c0002t0001g0064 a0001c0002t0002g0078 a0002c0003t0001g0137	4	150	0.0267	-768	c.532 others(19): Show c.532-45700_532-44933del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976257	GGCCCAGG others(761): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGT CTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0137 a0002c0003t0001g0137	1	150	0.0067	-768	c.532 others(19): Show c.532-47088_532-46321del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976281	AGCCCAGG others(761): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	150	0.0067	-768	c.532 others(19): Show c.532-47112_532-46345del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
THEG_chr19_356747_381026	360112	GTCGGCTG others(761): Show GTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGG CTCTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCT GATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCT GTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTG CTTTGACCGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCTCTCAGC AGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTGATGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC GACTCTGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCAT CAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCC CTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGA CAGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGT CGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAAGAGCATCGGCTGGT TTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCTCTCAGGAG GAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCG TGGCCCCTCAGCAGGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0032 a0001c0001t0031g0032	1	370	0.0027	-768	c.13 others(11): Show c.1320_*2087del		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1634		chr19	TogoVar
THEG_chr19_356747_381026	360205	TGACTCTG others(761): Show TGACTCTGATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGAC TGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCG TCGGCTGCTTTGACCGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGC TCTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTG ATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTG TCGTTCCGACTCTGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGG TTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGA GGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCC GTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCG ACTCTGACAGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTG TGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAAGAGCATC GGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCTC TCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGAC GGTCCCGTGGCCCCTCAGCAGGAGCATCGGCTGGTTTGACTGTGGCTGTC GTTCCGACTCCGACGGTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTGGTT TGACTGTGGCTGTCGTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0312 a0006c0006t0021g0312	1	370	0.0027	-768	c.12 others(11): Show c.1227_*1994del		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1541		chr19	TogoVar
VAV2_chr9_133756894_133997324	133827681	GCACGGGC others(761): Show GCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGG GCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGC ATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCAT CACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCA CCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACC ACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAG CTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCT ACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTAC TGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCG CTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCT GCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGC CCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCC ACTGGGGCTGACCACTGAC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0045 a0002c0005t0001g0045	1	200	0.0050	-768	c.449 others(17): Show c.449+5823_449+6590del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
WIPF2_chr17_40214304_40289136	40238607	TTATTTAT others(761): Show TTATTTATTTATTATTATTTTTTTGAGACAGAATCTCACTCTGTCGTCCA GGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAACCTCCGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAG GCGCTTGCCATCAGTGTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGT TTCACCACCTTGGTCAGGCTGGTCTGAAACTCCTGACCTCATGATCCGCC CGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGTGCCC GGCCATTTATTTTTTAAGAGATGGGGTTTTGCTGTGGGGCTCAGGCTGGA TTCAAACTCCTGGGCTTAAGTTATCCTCCTACCTCCAAGTAGCTGGGACT ACAGGCTCATGCCACTGTGTCTGGCTTCTGTTTATTTTATTTTATTTATT TATTTATTTATTTATTTATTTATTTATTTATTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAATGCAGTGGTGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCCCTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGATC CACTGCGCCCAGCCTTGGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	314	0.0032	-768	c.-69 others(19): Show c.-69-17782_-69-17015del		WIPF2	ENSG00000171475.14	transcript	ENST00000323571.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar

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