Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TYMP_chr22_50520752_50535012	50521319	CTGGGAGG others(58): Show CTGGGAGGGTGGCTGTGTACCCCCTACTCCTTTGGGAGGGTGGCTGTGAA CCCCCTACTCCTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01884.hp2 others(16): Show HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG06807.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0005t0003 a0001c0002t0001 a0001c0005t0001 a0001c0005t0003	a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0005t0001g0006 others(2): Show a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0005t0001g0006 a0001c0005t0001g0014 a0001c0005t0003g0052	19	412	0.0461	-65	c.43 others(76): Show c.4386_*4450delAAGGAGGAGTAGGGGGTTCACAGCCACCCTCCCA AAGGAGTAGGGGGTACACAGCCACCCTCCCA	TYMP	ENSG00000025708.14	transcript	ENST00000252029.8	protein_coding		4432		chr22	TogoVar
TYMS_chr18_652653_678578	667239	AGATGGTG others(58): Show AGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGATGGTGA TGGAGATGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0393 a0001c0001t0002g0393	1	482	0.0021	-65	c.455 others(82): Show c.455-1821_455-1757delTGATGGTGATGGAGATGGTGATGGTGAT GGGATGGTGATGGAGATGGTGATGGTGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW1_chr7_66991833_67244514	67184613	TTTTATTT others(58): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATGTTATGTTAT GTTATGTTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01168.hp1 others(25): Show HG00323.hp1 HG01106.hp1 HG01168.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03195.hp1 HG03209.hp2 HG03704.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp1 NA18957.hp1 NA19030.hp1 NA19240.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0002c0004 a0010c0012 a0002c0003 a0002c0004 a0010c0012	a0002c0003t0002 a0002c0003t0013 a0002c0004t0002 others(1): Show a0002c0003t0002 a0002c0003t0013 a0002c0004t0002 a0010c0012t0002	a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0210 others(25): Show a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0013g0219 a0002c0004t0002g0289 a0010c0012t0002g0227	28	364	0.0769	-65	c.180 others(84): Show c.1809+1380_1809+1444delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTATGTTATGTTATGTTATGTTATGTTATGTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67242917	GTTACCCA others(58): Show GTTACCCAATCTGGTCTTGAACTCCTGGCCTCAAGCAATTCTACCATCTT AGACTCCCAAAGCACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0251 a0002c0003t0002g0251	1	364	0.0028	-65	c.43 others(76): Show c.4389_*4453delTTACCCAATCTGGTCTTGAACTCCTGGCCTCAAG CAATTCTACCATCTTAGACTCCCAAAGCACT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding		3404		chr7	TogoVar
ULK1_chr12_131889622_131928150	131917250	CGGAGGCT others(58): Show CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTTGGGGGGAGCTCG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02809.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0029 a0001c0002t0001g0057	2	344	0.0058	-65	c.218 others(81): Show c.2183-159_2183-95delGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UROC1_chr3_126476166_126522773	126515665	CCCCAGCA others(58): Show CCCCAGCACCCACCACTTACCCTCCCCCAACCCCCAGCACCCACCACCTA CCCTCCCCCTCATCTG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02486.hp2 HG02602.hp2 others(4): Show HG01358.hp1 HG02486.hp2 HG02602.hp2 HG02647.hp2 HG02896.hp1 HG03710.hp2 NA19043.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0005 a0007c0027 others(1): Show a0001c0001 a0002c0005 a0007c0027 a0007c0028	a0001c0001t0002 a0001c0001t0004 a0002c0005t0002 others(4): Show a0001c0001t0002 a0001c0001t0004 a0002c0005t0002 a0002c0005t0006 a0002c0005t0013 a0007c0027t0005 a0007c0028t0001	a0001c0001t0002g0133 a0001c0001t0004g0156 a0002c0005t0002g0134 others(4): Show a0001c0001t0002g0133 a0001c0001t0004g0156 a0002c0005t0002g0134 a0002c0005t0006g0138 a0002c0005t0013g0135 a0007c0027t0005g0137 a0007c0028t0001g0136	7	380	0.0184	-65	c.126 others(82): Show c.126+1864_126+1928delCAGATGAGGGGGAGGGTAGGTGGTGGGT GCTGGGGGTTGGGGGAGGGTAAGTGGTGGGTGCTGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USP9X_chrX_41080445_41241579	41198366	TTTTGAAG others(58): Show TTTTGAAGGAAGATCTTTTTATTAGAAAATCTGAGTTTTCTGAGATGTAA TGAGATCTTAAATTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(71): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01433.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02818.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18992.hp2 NA19005.hp1 NA19012.hp1 NA19064.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp1 NA19087.hp1 NA19090.hp1 NA20752.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0003 a0004c0009 others(1): Show a0001c0001 a0001c0003 a0004c0009 a0008c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0003t0001 a0004c0009t0006 a0008c0006t0001	a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0131 others(71): Show a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0006g0148 a0001c0001t0006g0165 a0001c0001t0008g0103 a0001c0001t0008g0135 a0001c0001t0008g0136 a0001c0001t0008g0137 a0001c0001t0008g0142 a0001c0001t0010g0156 a0001c0001t0010g0157 a0001c0001t0024g0234 a0001c0001t0025g0133 a0001c0001t0026g0166 a0001c0003t0001g0130 a0001c0003t0001g0150 a0001c0003t0001g0151 a0004c0009t0006g0116 a0008c0006t0001g0002	74	293	0.2526	-65	c.438 others(81): Show c.4381-161_4381-97delTTTGAAGGAAGATCTTTTTATTAGAAAAT CTGAGTTTTCTGAGATGTAATGAGATCTTAAATTCC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	29/44			chrX	TogoVar
VAV2_chr9_133756894_133997324	133977925	GGGGCACG others(58): Show GGGGCACGCAGCTCCCACGCCCCCTGCCTCTGGAGATGTCCTACGTGTAT GCGTCCACCTGCCCTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01123.hp1 others(34): Show HG00735.hp1 HG00738.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(10): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0019 a0001c0028 a0002c0001 a0002c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(23): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0001c0002t0034 a0001c0003t0002 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0006t0002 a0001c0006t0009 a0001c0007t0002 a0001c0007t0003 a0001c0007t0011 a0001c0007t0027 a0001c0009t0002 a0001c0010t0005 a0001c0012t0012 a0001c0013t0007 a0001c0019t0010 a0001c0028t0005 a0002c0001t0001 a0002c0001t0004 a0002c0001t0013 a0002c0011t0003 a0002c0011t0004	a0001c0002t0001g0118 a0001c0002t0002g0028 a0001c0002t0002g0166 others(34): Show a0001c0002t0001g0118 a0001c0002t0002g0028 a0001c0002t0002g0166 a0001c0002t0002g0179 a0001c0002t0005g0025 a0001c0002t0012g0026 a0001c0002t0034g0117 a0001c0003t0002g0119 a0001c0003t0008g0099 a0001c0004t0001g0180 a0001c0004t0001g0189 a0001c0004t0002g0190 a0001c0006t0002g0035 a0001c0006t0009g0001 a0001c0006t0009g0094 a0001c0007t0002g0130 a0001c0007t0003g0095 a0001c0007t0011g0120 a0001c0007t0011g0124 a0001c0007t0027g0092 a0001c0009t0002g0027 a0001c0009t0002g0034 a0001c0009t0002g0169 a0001c0010t0005g0167 a0001c0012t0012g0017 a0001c0013t0007g0088 a0001c0019t0010g0090 a0001c0028t0005g0024 a0002c0001t0001g0164 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0004g0075 a0002c0001t0004g0076 a0002c0001t0013g0168 a0002c0011t0003g0135 a0002c0011t0004g0079	37	200	0.1850	-65	c.204 others(84): Show c.204+14085_204+14149delTAGGGCAGGTGGACGCATACACGTAG GACATCTCCAGAGGCAGGGGGCGTGGGAGCTGCGTGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29			chr9	TogoVar
VCX3B_chrX_8459830_8471510	8465657	GCTTCTGA others(58): Show GCTTCTGAGGACACGTCCCTGTTCCCAGCCTCCTCCATCCTCGTCCCTAA ACCGGAGCCCTTCTGT	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0000 a0000	a0000c0083 a0000c0083	a0000c0083t0031 a0000c0083t0031	a0000c0083t0031g0037 a0000c0083t0031g0037	1	271	0.0037	-65	c.103 others(78): Show c.103-87_103-23delCTTCTGAGGACACGTCCCTGTTCCCAGCCTCC TCCATCCTCGTCCCTAAACCGGAGCCCTTCTGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	2/2			chrX	TogoVar
VEGFD_chrX_15340596_15389413	15348856	GGGTTTAT others(58): Show GGGTTTATTTGGTGTAATAAAAGGGTCCTGAAGCAGGCCGATGTATGGAG CTTCTGGGAATCCCAT	G G	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0256 a0004c0007t0002g0256	1	302	0.0033	-65	c.743 others(82): Show c.743-1562_743-1498delATGGGATTCCCAGAAGCTCCATACATCG GCCTGCTTCAGGACCCTTTTATTACACCAAATAAACC	VEGFD	ENSG00000165197.5	transcript	ENST00000297904.4	protein_coding	5/6			chrX	TogoVar
VIPR2_chr7_159023175_159149867	159023563	GCTGGCTG others(58): Show GCTGGCTGCGCCCACAGTCCCACCCGATGCAGACACTGCTCCCGGCCCAC CTCACCACGCCCGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03453.hp2 HG03471.hp1 others(1): Show HG02922.hp2 HG03453.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0012 a0001c0001 a0001c0009 a0001c0012	a0001c0001t0007 a0001c0009t0042 a0001c0012t0041 a0001c0001t0007 a0001c0009t0042 a0001c0012t0041	a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0009t0042g0022 others(1): Show a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0009t0042g0022 a0001c0012t0041g0264	4	336	0.0119	-65	c.69 others(76): Show c.6988_*7052delGGGCGGGCGTGGTGAGGTGGGCCGGGAGCAGTGT CTGCATCGGGTGGGACTGTGGGCGCAGCCAG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding		4611		chr7	TogoVar
VPS53_chr17_503668_719839	505510	TCAGGGTC others(58): Show TCAGGGTCAGGACAGCGGTTGAGATAGAAGCTGACTTTCTAGAAGAGCAT TGGTGACCTTCGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03139.hp2 HG01884.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0088 a0001c0001t0029 a0001c0001t0088	a0001c0001t0029g0150 a0001c0001t0088g0152 a0001c0001t0029g0150 a0001c0001t0088g0152	2	232	0.0086	-65	c.13 others(78): Show c.13553_*13617delCTCTCGAAGGTCACCAATGCTCTTCTAGAAAG TCAGCTTCTATCTCAACCGCTGTCCTGACCCTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		3157		chr17	TogoVar
VPS53_chr17_503668_719839	505568	TTCGAGAG others(58): Show TTCGAGAGCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGA AGAGCACCGGTGACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0221 a0001c0002t0086g0221	1	232	0.0043	-65	c.13 others(78): Show c.13495_*13559delGGGTCACCGGTGCTCTTCTAGAAAGTCAGCTT CCATCTCAACCGCTGTCCTGACCCTGCTCTCGA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		3099		chr17	TogoVar
VPS53_chr17_503668_719839	505705	TCAGGGTC others(58): Show TCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCAT TGGTGACCTTCGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01109.hp2 others(36): Show HG00423.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02622.hp1 HG02723.hp2 HG02818.hp2 HG03225.hp2 HG03491.hp2 NA18612.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18979.hp1 NA18987.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0015 a0001c0001t0028 a0001c0001t0094 others(20): Show a0001c0001t0015 a0001c0001t0028 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0105 a0001c0002t0005 a0001c0002t0007 a0001c0002t0048 a0001c0002t0050 a0001c0002t0058 a0002c0003t0008 a0002c0003t0009 a0002c0003t0027 a0002c0003t0085 a0002c0003t0090 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0104 a0002c0003t0150 a0003c0004t0005	a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(36): Show a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0094g0129 a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0098g0147 a0001c0001t0105g0201 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0048g0089 a0001c0002t0050g0049 a0001c0002t0058g0052 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0085g0184 a0002c0003t0090g0171 a0002c0003t0091g0209 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0104g0208 a0002c0003t0150g0191 a0003c0004t0005g0027 a0003c0004t0005g0028 a0003c0004t0005g0030	39	232	0.1681	-65	c.13 others(78): Show c.13358_*13422delCTCTCGAAGGTCACCAATGCTCTTCTAGAAAG TCAGCTTCCATCTCAACCGCTGTCCTGACCCTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2962		chr17	TogoVar
VPS53_chr17_503668_719839	505893	TTCAAGAT others(58): Show TTCAAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGA AGAGCACCGGTGACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01175.hp1 others(3): Show HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0034 a0001c0001t0122 a0001c0001t0138 others(2): Show a0001c0001t0034 a0001c0001t0122 a0001c0001t0138 a0001c0001t0141 a0001c0006t0041	a0001c0001t0034g0126 a0001c0001t0034g0162 a0001c0001t0122g0160 others(3): Show a0001c0001t0034g0126 a0001c0001t0034g0162 a0001c0001t0122g0160 a0001c0001t0138g0161 a0001c0001t0141g0165 a0001c0006t0041g0001	6	232	0.0259	-65	c.13 others(78): Show c.13170_*13234delGGGTCACCGGTGCTCTTCTAGAAAGTCAGCTT CCATCTCAACCGCTGTCCTGACCCTGATCTTGA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2774		chr17	TogoVar
VPS53_chr17_503668_719839	505938	CTAGAAGA others(58): Show CTAGAAGAGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAG ATGGAAGCTGACTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01167.hp1 others(31): Show HG00423.hp2 HG01099.hp1 HG01167.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02293.hp1 HG02300.hp1 HG02622.hp1 HG02723.hp2 HG03491.hp2 NA18612.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18979.hp1 NA18987.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0015 a0001c0001t0028 a0001c0001t0094 others(15): Show a0001c0001t0015 a0001c0001t0028 a0001c0001t0094 a0001c0002t0005 a0001c0002t0007 a0001c0002t0048 a0001c0002t0058 a0002c0003t0008 a0002c0003t0009 a0002c0003t0027 a0002c0003t0085 a0002c0003t0090 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0104 a0002c0003t0150 a0003c0004t0005	a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(31): Show a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0094g0129 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0048g0089 a0001c0002t0058g0052 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0085g0184 a0002c0003t0090g0171 a0002c0003t0091g0209 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0104g0208 a0002c0003t0150g0191 a0003c0004t0005g0027 a0003c0004t0005g0028 a0003c0004t0005g0030	34	232	0.1466	-65	c.13 others(78): Show c.13125_*13189delCAAAGTCAGCTTCCATCTCAACCACTGTCCTG ACCCCGCTCTTGAGGGTCACCGGTGCTCTTCTA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2729		chr17	TogoVar
VPS53_chr17_503668_719839	506030	TCAGGGTC others(58): Show TCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCAT TGGTGACCTTCGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0077 a0001c0002t0014g0077	1	232	0.0043	-65	c.13 others(78): Show c.13033_*13097delCTCTCGAAGGTCACCAATGCTCTTCTAGAAAG TCAGCTTCCATCTCAACCGCTGTCCTGACCCTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2637		chr17	TogoVar
VPS53_chr17_503668_719839	506108	AGCGGTTG others(58): Show AGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGA GAGCAGGGTCAGGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02818.hp2 others(2): Show HG01109.hp2 HG02280.hp1 HG02818.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 others(2): Show a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0105 a0001c0002t0050	a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0098g0147 others(2): Show a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0098g0147 a0001c0001t0105g0201 a0001c0002t0050g0049	5	232	0.0216	-65	c.12 others(78): Show c.12955_*13019delCGTCCTGACCCTGCTCTCGAAGGTCACCAATG CTCTTCTAGAAAGTCAGCTTCCATCTCAACCGC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2559		chr17	TogoVar
VPS53_chr17_503668_719839	507007	AGGGTCAG others(58): Show AGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCACCG GTGACCCTCAAGAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00621.hp1 others(19): Show HG00323.hp2 HG00423.hp1 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG02129.hp1 HG02132.hp1 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18946.hp1 NA18955.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA19066.hp2 NA19090.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0015 a0002c0003 others(3): Show a0001c0001 a0001c0015 a0002c0003 a0004c0008 a0005c0009 a0007c0013	a0001c0001t0032 a0001c0015t0126 a0002c0003t0018 others(15): Show a0001c0001t0032 a0001c0015t0126 a0002c0003t0018 a0002c0003t0036 a0002c0003t0037 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0144 a0002c0003t0145 a0002c0003t0146 a0002c0003t0148 a0004c0008t0036 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147 a0007c0013t0132	a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0015t0126g0149 others(19): Show a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0015t0126g0149 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0018g0231 a0002c0003t0036g0176 a0002c0003t0037g0115 a0002c0003t0037g0168 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0144g0215 a0002c0003t0145g0187 a0002c0003t0146g0170 a0002c0003t0148g0174 a0004c0008t0036g0207 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177 a0007c0013t0132g0163	22	232	0.0948	-65	c.12 others(78): Show c.12056_*12120delCGCTCTTGAGGGTCACCGGTGCTCTTCTAGAA AGTCAGCTTCCATCTCAACCACTGTCCTGACCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		1660		chr17	TogoVar
VTI1B_chr14_67642085_67679632	67669736	AATGCAGA others(58): Show AATGCAGACACCCTGGAACCTTTCTCCCTCACTCCTCATATCCATTGAGG CTGGTTAATTTCTGCC	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	446	0.0022	-65	c.115 others(82): Show c.115+4574_115+4638delGGCAGAAATTAACCAGCCTCAATGGATA TGAGGAGTGAGGGAGAAAGGTTCCAGGGTGTCTGCAT	VTI1B	ENSG00000100568.11	transcript	ENST00000554659.6	protein_coding	1/5			chr14	TogoVar
WDR17_chr4_176060841_176187815	176062647	TAAAGAAT others(58): Show TAAAGAATTCTATCAATATTGATCTAGAGAAAAAATATCAAATTTTCTGC AATTATTAAAAAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02976.hp2 HG02615.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0301 a0001c0001t0017g0310 a0001c0001t0005g0301 a0001c0001t0017g0310	2	356	0.0056	-65	c.-34 others(76): Show c.-3438_-3374delAAAGAATTCTATCAATATTGATCTAGAGAAAAAA TATCAAATTTTCTGCAATTATTAAAAAAATA	WDR17	ENSG00000150627.16	transcript	ENST00000508596.6	protein_coding		3193		chr4	TogoVar
WDR24_chr16_679622_695398	679924	GGCTGGGG others(58): Show GGCTGGGGGCGGGGCCTCTGCTGATGGGGCCGGCGGCTGGGGGCGGGGCC TCTGGATTGGGCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG00735.hp1 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	2	378	0.0053	-65	c.47 others(76): Show c.4745_*4809delAGCCGCCCAATCCAGAGGCCCCGCCCCCAGCCGC CGGCCCCATCAGCAGAGGCCCCGCCCCCAGC	WDR24	ENSG00000127580.17	transcript	ENST00000293883.9	protein_coding		4697		chr16	TogoVar
WDR24_chr16_679622_695398	679958	GGCTGGGG others(58): Show GGCTGGGGGCGGGGCCTCTGGATTGGGCGGCTGCTGGGGGCGGGGCCTCT GCGGATGGGGCCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01433.hp2 others(17): Show HG00738.hp1 HG01109.hp1 HG01433.hp2 HG02109.hp1 HG02257.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02723.hp2 HG02896.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp1 NA18950.hp2 NA18966.hp2 NA18982.hp1 NA18986.hp1 NA18995.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0011t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0048 others(4): Show a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0004g0069 a0001c0011t0001g0051	20	378	0.0529	-65	c.47 others(76): Show c.4711_*4775delAGCCGGCCCCATCCGCAGAGGCCCCGCCCCCAGC AGCCGCCCAATCCAGAGGCCCCGCCCCCAGC	WDR24	ENSG00000127580.17	transcript	ENST00000293883.9	protein_coding		4663		chr16	TogoVar
WDR93_chr15_89685811_89748638	89746363	ACAGCATC others(58): Show ACAGCATCCACACCTCCACACATCCACACATCCACACAGCATCCACACCT CCACACATCCACACCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0190 a0002c0006t0001g0190	1	352	0.0028	-65	c.29 others(76): Show c.2973_*3037delCAGCATCCACACCTCCACACATCCACACATCCAC ACAGCATCCACACCTCCACACATCCACACCG	WDR93	ENSG00000140527.15	transcript	ENST00000268130.12	protein_coding		2726		chr15	TogoVar
WWOX_chr16_78094654_79217667	78575017	ATATAAAT others(58): Show ATATAAATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0122	1	142	0.0070	-65	c.105 others(88): Show c.1056+142266_1056+142330delTATAAATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATAT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8			chr16	TogoVar
XXYLT1_chr3_195063284_195276159	195143814	AGATATAG others(58): Show AGATATAGATATATATAGATATAGATATAGATATATATATAGATATATAT AGATATAGATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	198	0.0051	-65	c.785 others(84): Show c.785+12570_785+12634delATATATATCTATATCTATATATATCT ATATATATATCTATATCTATATCTATATATATCTATATC	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
YJU2_chr19_4242080_4274088	4247583	GTGTGTGT others(58): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	384	0.0026	-65	c.24+ others(78): Show c.24+414_24+478delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	YJU2	ENSG00000105248.16	transcript	ENST00000262962.12	protein_coding	1/7			chr19	TogoVar
ZBED1_chrX_2481435_2505976	2485741	AGAAGGGA others(58): Show AGAAGGGAGGGAAGGAAGGGAGAGAAGGAAGGAAGGGAGAAAAGGGAGAG AAGGGAGAGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp2 others(76): Show HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01981.hp1 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18981.hp1 NA18999.hp1 NA19003.hp2 NA19010.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19072.hp2 NA19075.hp1 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038 a0001c0001t0044 a0001c0001t0046 a0001c0002t0003 a0001c0002t0012 a0001c0002t0021 a0001c0003t0006 a0001c0004t0020 a0001c0015t0006 a0005c0011t0007	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 others(43): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0092 a0001c0001t0004g0001 a0001c0001t0004g0079 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0005g0062 a0001c0001t0007g0005 a0001c0001t0007g0122 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0009g0009 a0001c0001t0009g0045 a0001c0001t0013g0065 a0001c0001t0017g0050 a0001c0001t0018g0018 a0001c0001t0027g0056 a0001c0001t0029g0038 a0001c0001t0031g0096 a0001c0001t0033g0091 a0001c0001t0038g0073 a0001c0001t0044g0043 a0001c0001t0046g0139 a0001c0002t0003g0127 a0001c0002t0012g0032 a0001c0002t0021g0023 a0001c0003t0006g0010 a0001c0003t0006g0022 a0001c0003t0006g0025 a0001c0004t0020g0115 a0001c0004t0020g0116 a0001c0015t0006g0059 a0005c0011t0007g0121	79	221	0.3575	-65	c.28 others(76): Show c.2829_*2893delCTTCCTTCTCTCCCTTCTCTCCCTTTTCTCCCTT CCTTCCTTCTCTCCCTTCCTTCCCTCCCTTC	ZBED1	ENSG00000214717.12	transcript	ENST00000652001.1	protein_coding		693		chrX	TogoVar
ZC3H3_chr8_143432659_143546447	143521384	AAGTCCTG others(58): Show AAGTCCTGGTGCCCCATGGGCAGCCCCTGCCCCCAGCACTATGTCTGCCT CTGGGGAGCTCCCAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00597.hp2 others(51): Show HG00099.hp2 HG00408.hp2 HG00597.hp2 HG00733.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02602.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03453.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04204.hp2 NA18747.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18965.hp1 NA18980.hp1 NA18997.hp1 NA18998.hp2 NA19065.hp2 NA19081.hp2 NA20300.hp2 NA21309.hp2	a0001 a0006 a0013 others(3): Show a0001 a0006 a0013 a0018 a0034 a0035	a0001c0001 a0001c0027 a0006c0006 others(4): Show a0001c0001 a0001c0027 a0006c0006 a0013c0016 a0018c0022 a0034c0037 a0035c0036	a0001c0001t0001 a0001c0001t0002 a0001c0027t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0027t0001 a0006c0006t0001 a0013c0016t0002 a0018c0022t0001 a0034c0037t0002 a0035c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0147 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0027t0001g0144 a0001c0027t0001g0145 a0006c0006t0001g0100 a0013c0016t0002g0018 a0013c0016t0002g0049 a0013c0016t0002g0052 a0018c0022t0001g0002 a0034c0037t0002g0030 a0035c0036t0001g0038	54	352	0.1534	-65	c.156 others(86): Show c.1562-13550_1562-13486delGCTGGGAGCTCCCCAGAGGCAGAC ATAGTGCTGGGGGCAGGGGCTGCCCATGGGGCACCAGGACT	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	3/11			chr8	TogoVar
ZFAND3_chr6_37814727_38159624	38041731	TCCTCCTC others(58): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCTTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	318	0.0031	-65	c.113 others(84): Show c.113-19861_113-19797delCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTTCTTCTTC	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	2/5			chr6	TogoVar
ZNF235_chr19_44281348_44310025	44302959	TATATACG others(58): Show TATATACGTATATATGTATATATTTATATATAAATATATACATATATACG TATATATTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	392	0.0026	-65	c.15+ others(78): Show c.15+366_15+430delTTTATATAAATATATACGTATATATGTATATA TTTATATATAAATATATACATATATACGTATAT	ZNF235	ENSG00000159917.17	transcript	ENST00000291182.9	protein_coding	2/4			chr19	TogoVar
ZNF423_chr16_49482524_49861112	49783349	TTAGGGTT others(58): Show TTAGGGTTAGGGTTAGTAGCAGGCTGGGATGGGCGGGAAAGAGGGGCGTT AGGGTTAGGGTTAGAG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0065 a0001c0001t0048g0065	1	196	0.0051	-65	c.100 others(82): Show c.100+6073_100+6137delCTCTAACCCTAACCCTAACGCCCCTCTT TCCCGCCCATCCCAGCCTGCTACTAACCCTAACCCTA	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	2/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49783395	CGTTAGGG others(58): Show CGTTAGGGTTAGGGTTAGAGTAGGGTTAGGGTTAGTAGCAGGCTGGGATG GGCGGGAAAGAGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp1 HG01346.hp1 others(5): Show HG00738.hp1 HG01255.hp1 HG01346.hp1 HG02300.hp1 HG02965.hp2 HG03130.hp1 HG06807.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(5): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0009	a0001c0002t0003g0062 a0001c0002t0004g0044 a0001c0002t0006g0038 others(5): Show a0001c0002t0003g0062 a0001c0002t0004g0044 a0001c0002t0006g0038 a0001c0002t0008g0116 a0001c0003t0002g0043 a0001c0003t0003g0039 a0001c0003t0008g0037 a0001c0003t0009g0167	8	196	0.0408	-65	c.100 others(82): Show c.100+6027_100+6091delCCCCCTCTTTCCCGCCCATCCCAGCCTG CTACTAACCCTAACCCTACTCTAACCCTAACCCTAAC	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	2/7			chr16	TogoVar
ZNF511_chr10_133303914_133318161	133318079	ACACCCCC others(58): Show ACACCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGAC ACAGAGATGGAAAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG04115.hp2 NA18522.hp1 others(5): Show HG02451.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18972.hp1 NA18988.hp2 NA19055.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0016	8	282	0.0284	-65	c.52 others(76): Show c.5214_*5278delCACCCCCCCCCAGACACAGAGATGGAAAGACCAC ACACCCCGCCCAGACACAGAGATGGAAAGAC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4919		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76423584	ACAGGTAA others(58): Show ACAGGTAAAAAGGCTTCACCCCTGAAACACCCACACGCAGGTGAAAGGGT CCCCCCGAAACACACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(174): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0012 a0013 a0014 a0015 a0017 a0019	a0001c0001 a0001c0002 a0001c0004 others(25): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0001c0018 a0001c0026 a0001c0027 a0001c0028 a0001c0033 a0001c0044 a0001c0045 a0003c0048 a0004c0010 a0004c0017 a0004c0038 a0005c0008 a0006c0039 a0006c0041 a0007c0015 a0009c0050 a0012c0034 a0013c0037 a0014c0040 a0015c0036 a0017c0049 a0019c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(128): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0056 a0001c0001t0066 a0001c0001t0073 a0001c0001t0077 a0001c0001t0085 a0001c0001t0086 a0001c0001t0091 a0001c0001t0092 a0001c0001t0107 a0001c0001t0122 a0001c0001t0124 a0001c0001t0137 a0001c0001t0138 a0001c0001t0140 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0152 a0001c0001t0153 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0160 a0001c0001t0162 a0001c0001t0169 a0001c0001t0171 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180 a0001c0001t0184 a0001c0001t0185 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0002t0019 a0001c0002t0034 a0001c0002t0046 a0001c0002t0053 a0001c0002t0090 a0001c0002t0096 a0001c0002t0105 a0001c0002t0119 a0001c0002t0127 a0001c0002t0128 a0001c0002t0129 a0001c0002t0135 a0001c0002t0136 a0001c0002t0141 a0001c0002t0151 a0001c0002t0165 a0001c0004t0076 a0001c0004t0078 a0001c0005t0024 a0001c0005t0027 a0001c0005t0062 a0001c0005t0104 a0001c0005t0111 a0001c0005t0112 a0001c0005t0190 a0001c0006t0026 a0001c0006t0028 a0001c0006t0057 a0001c0006t0182 a0001c0016t0029 a0001c0018t0001 a0001c0018t0010 a0001c0026t0054 a0001c0027t0123 a0001c0028t0071 a0001c0033t0003 a0001c0044t0113 a0001c0045t0131 a0003c0048t0028 a0004c0010t0010 a0004c0010t0036 a0004c0010t0037 a0004c0017t0064 a0004c0038t0125 a0005c0008t0007 a0005c0008t0038 a0005c0008t0045 a0006c0039t0001 a0006c0041t0183 a0007c0015t0021 a0007c0015t0044 a0009c0050t0009 a0012c0034t0019 a0013c0037t0002 a0014c0040t0027 a0015c0036t0134 a0017c0049t0114 a0019c0029t0109	a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 others(174): Show a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0263 a0001c0001t0001g0296 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0096 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0156 a0001c0001t0002g0205 a0001c0001t0002g0253 a0001c0001t0002g0279 a0001c0001t0002g0307 a0001c0001t0002g0340 a0001c0001t0003g0031 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0276 a0001c0001t0004g0008 a0001c0001t0004g0167 a0001c0001t0004g0194 a0001c0001t0004g0221 a0001c0001t0004g0339 a0001c0001t0005g0283 a0001c0001t0006g0088 a0001c0001t0006g0261 a0001c0001t0007g0247 a0001c0001t0008g0016 a0001c0001t0008g0271 a0001c0001t0009g0140 a0001c0001t0009g0243 a0001c0001t0009g0334 a0001c0001t0010g0255 a0001c0001t0010g0286 a0001c0001t0011g0193 a0001c0001t0012g0295 a0001c0001t0013g0023 a0001c0001t0014g0052 a0001c0001t0014g0161 a0001c0001t0015g0142 a0001c0001t0015g0143 a0001c0001t0016g0331 a0001c0001t0017g0171 a0001c0001t0017g0285 a0001c0001t0018g0025 a0001c0001t0018g0132 a0001c0001t0020g0035 a0001c0001t0020g0328 a0001c0001t0021g0159 a0001c0001t0021g0160 a0001c0001t0023g0097 a0001c0001t0025g0170 a0001c0001t0032g0290 a0001c0001t0039g0188 a0001c0001t0040g0191 a0001c0001t0041g0149 a0001c0001t0041g0175 a0001c0001t0043g0294 a0001c0001t0043g0329 a0001c0001t0044g0267 a0001c0001t0046g0082 a0001c0001t0056g0151 a0001c0001t0066g0190 a0001c0001t0073g0020 a0001c0001t0077g0017 a0001c0001t0085g0032 a0001c0001t0086g0099 a0001c0001t0091g0004 a0001c0001t0092g0135 a0001c0001t0107g0152 a0001c0001t0122g0282 a0001c0001t0124g0075 a0001c0001t0137g0169 a0001c0001t0138g0173 a0001c0001t0140g0254 a0001c0001t0142g0177 a0001c0001t0143g0146 a0001c0001t0144g0144 a0001c0001t0146g0332 a0001c0001t0147g0325 a0001c0001t0148g0057 a0001c0001t0152g0027 a0001c0001t0153g0061 a0001c0001t0156g0304 a0001c0001t0157g0065 a0001c0001t0158g0053 a0001c0001t0160g0136 a0001c0001t0162g0291 a0001c0001t0169g0195 a0001c0001t0171g0150 a0001c0001t0178g0093 a0001c0001t0179g0293 a0001c0001t0180g0322 a0001c0001t0184g0262 a0001c0001t0185g0323 a0001c0001t0187g0089 a0001c0001t0188g0051 a0001c0001t0189g0246 a0001c0002t0001g0164 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0003g0155 a0001c0002t0005g0067 a0001c0002t0007g0187 a0001c0002t0011g0045 a0001c0002t0011g0338 a0001c0002t0016g0172 a0001c0002t0019g0064 a0001c0002t0034g0030 a0001c0002t0046g0176 a0001c0002t0053g0002 a0001c0002t0090g0119 a0001c0002t0096g0333 a0001c0002t0105g0289 a0001c0002t0119g0018 a0001c0002t0127g0042 a0001c0002t0128g0041 a0001c0002t0129g0192 a0001c0002t0135g0073 a0001c0002t0136g0103 a0001c0002t0141g0058 a0001c0002t0151g0168 a0001c0002t0165g0048 a0001c0004t0076g0062 a0001c0004t0078g0166 a0001c0005t0024g0076 a0001c0005t0024g0079 a0001c0005t0027g0019 a0001c0005t0062g0038 a0001c0005t0104g0074 a0001c0005t0111g0071 a0001c0005t0112g0272 a0001c0005t0190g0122 a0001c0006t0026g0034 a0001c0006t0026g0277 a0001c0006t0028g0292 a0001c0006t0057g0165 a0001c0006t0182g0130 a0001c0016t0029g0129 a0001c0018t0001g0056 a0001c0018t0010g0189 a0001c0026t0054g0037 a0001c0027t0123g0153 a0001c0028t0071g0128 a0001c0033t0003g0260 a0001c0044t0113g0107 a0001c0045t0131g0021 a0003c0048t0028g0036 a0004c0010t0010g0225 a0004c0010t0036g0145 a0004c0010t0037g0245 a0004c0017t0064g0014 a0004c0038t0125g0123 a0005c0008t0007g0154 a0005c0008t0038g0327 a0005c0008t0045g0138 a0005c0008t0045g0139 a0006c0039t0001g0178 a0006c0041t0183g0127 a0007c0015t0021g0259 a0007c0015t0044g0147 a0009c0050t0009g0066 a0012c0034t0019g0280 a0013c0037t0002g0060 a0014c0040t0027g0131 a0015c0036t0134g0040 a0017c0049t0114g0072 a0019c0029t0109g0222	177	346	0.5116	-65	c.181 others(86): Show c.1810+17596_1810+17660delCGTGTGTTTCGGGGGGACCCTTTC ACCTGCGTGTGGGTGTTTCAGGGGTGAAGCCTTTTTACCTG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZSCAN5B_chr19_56184686_56202783	56197275	TGACTCTC others(58): Show TGACTCTCCTGACTCAGTCTCCCGAATAGCGGGTATTACCCTAACCTCTG CCTCCTGGGTTCAAAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	470	0.0021	-65	c.-12 others(82): Show c.-128+394_-128+458delGTTTGAACCCAGGAGGCAGAGGTTAGGG TAATACCCGCTATTCGGGAGACTGAGTCAGGAGAGTC	ZSCAN5B	ENSG00000197213.11	transcript	ENST00000586855.7	protein_coding	1/4			chr19	TogoVar
ZSCAN5C_chr19_56197273_56214461	56197275	TGACTCTC others(58): Show TGACTCTCCTGACTCAGTCTCCCGAATAGCGGGTATTACCCTAACCTCTG CCTCCTGGGTTCAAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	472	0.0021	-65	c.-51 others(76): Show c.-5174_-5110delGACTCTCCTGACTCAGTCTCCCGAATAGCGGGTA TTACCCTAACCTCTGCCTCCTGGGTTCAAAC	ZSCAN5C	ENSG00000204532.9	transcript	ENST00000534327.7	protein_coding		4997		chr19	TogoVar
ZSWIM7_chr17_15971560_16004704	15979829	GACCCCCC others(58): Show GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01123.hp1 others(11): Show HG00323.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG02148.hp2 HG02615.hp2 HG02630.hp2 HG02895.hp2 HG03516.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0130 a0001c0001t0004g0177 others(10): Show a0001c0001t0004g0025 a0001c0001t0004g0130 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0191	14	344	0.0407	-65	c.306 others(82): Show c.306+1146_306+1210delAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT	ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding	4/4			chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967404	TATATAAA others(57): Show TATATAAATATATATGTATTTATATATGTAGATATATAATATATAAAATA TATATAATATGTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02257.hp1 HG03490.hp2 others(3): Show HG00140.hp2 HG02257.hp1 HG03490.hp2 HG03669.hp2 HG04184.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 a0001c0001t0001g0074	6	324	0.0185	-64	c.-30 others(75): Show c.-3028_-2965delGATACATATTATATATATTTTATATATTATATAT CTACATATATAAATACATATATATTTATAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2951		chr17	TogoVar
AATK_chr17_81112295_81171221	81156094	CAATGTAT others(57): Show CAATGTATGTTACAATGTATGTTACTATGTTACAATGTATGTTACTATGT TACAATGTATGTTAT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0279 a0003c0003t0002g0279	1	368	0.0027	-64	c.55+ others(79): Show c.55+9780_55+9843delATAACATACATTGTAACATAGTAACATACA TTGTAACATAGTAACATACATTGTAACATACATT	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862635	GGGCCGGG others(57): Show GGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCC GGGCCGGGCCGGGCC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0009 a0005c0026t0009	a0005c0026t0009g0076 a0005c0026t0009g0076	1	318	0.0031	-64	c.422 others(79): Show c.422-899_422-836delGGCCCGGCCCGGCCCGGCCCGGCCCGGCCC GGCCCGGCCCGGCCCGGCCCGGCCCGGCCCGGCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCB5_chr7_20610667_20762008	20680992	TTCTTTCT others(57): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18955.hp2 NA18974.hp1 others(7): Show NA18946.hp1 NA18955.hp2 NA18974.hp1 NA18974.hp2 NA18995.hp2 NA19006.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19088.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0057	a0001c0001 a0003c0002 a0003c0010 others(2): Show a0001c0001 a0003c0002 a0003c0010 a0008c0027 a0057c0068	a0001c0001t0001 a0003c0002t0001 a0003c0010t0001 others(3): Show a0001c0001t0001 a0003c0002t0001 a0003c0010t0001 a0003c0010t0002 a0008c0027t0002 a0057c0068t0001	a0001c0001t0001g0277 a0003c0002t0001g0192 a0003c0002t0001g0194 others(7): Show a0001c0001t0001g0277 a0003c0002t0001g0192 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0321 a0003c0002t0001g0322 a0003c0010t0001g0240 a0003c0010t0002g0193 a0008c0027t0002g0314 a0057c0068t0001g0256	10	360	0.0278	-64	c.170 others(81): Show c.1708-509_1708-446delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20680998	CTTTCTTT others(57): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02280.hp1 NA19030.hp2 HG02273.hp2 HG02280.hp1 NA19030.hp2	a0001 a0031 a0071 a0001 a0031 a0071	a0001c0001 a0031c0109 a0071c0044 a0001c0001 a0031c0109 a0071c0044	a0001c0001t0002 a0031c0109t0022 a0071c0044t0001 a0001c0001t0002 a0031c0109t0022 a0071c0044t0001	a0001c0001t0002g0255 a0031c0109t0022g0356 a0071c0044t0001g0130 a0001c0001t0002g0255 a0031c0109t0022g0356 a0071c0044t0001g0130	3	360	0.0083	-64	c.170 others(81): Show c.1708-505_1708-442delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681002	CTTTCTTT others(57): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCT CTCTCTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG03579.hp2 HG02280.hp2 HG02717.hp2 HG03579.hp2	a0017 a0017	a0017c0084 a0017c0085 a0017c0086 a0017c0084 a0017c0085 a0017c0086	a0017c0084t0004 a0017c0085t0004 a0017c0086t0004 a0017c0084t0004 a0017c0085t0004 a0017c0086t0004	a0017c0084t0004g0122 a0017c0085t0004g0123 a0017c0086t0004g0128 a0017c0084t0004g0122 a0017c0085t0004g0123 a0017c0086t0004g0128	3	360	0.0083	-64	c.170 others(81): Show c.1708-501_1708-438delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTCTCTCTCTCTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC2_chr10_99777640_99857594	99814206	CACACATG others(57): Show CACACATGTGTATATATACACACATGTGTATATATGCACACACGTATGTA TACACACGTATGTAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(64): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01258.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02155.hp1 HG02698.hp2 HG02895.hp2 HG02897.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG04228.hp2 NA18942.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0018	a0001c0001 a0001c0030 a0002c0003 others(3): Show a0001c0001 a0001c0030 a0002c0003 a0008c0011 a0009c0012 a0018c0022	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0030t0001 a0002c0003t0001 a0008c0011t0001 a0009c0012t0001 a0018c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0132 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0008g0292 a0001c0001t0010g0321 a0001c0030t0001g0299 a0002c0003t0001g0246 a0002c0003t0001g0249 a0008c0011t0001g0320 a0008c0011t0001g0324 a0009c0012t0001g0217 a0009c0012t0001g0218 a0018c0022t0001g0270	67	336	0.1994	-64	c.209 others(83): Show c.2094+1068_2094+1131delTGTGTATATATACACACATGTGTATA TATGCACACACGTATGTATACACACGTATGTATACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814222	TACACACA others(57): Show TACACACATGTGTATATATGCACACACGTATGTATACACACGTATGTATA CACACGTATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	336	0.0030	-64	c.209 others(83): Show c.2094+1085_2094+1148delATGTGTATATATGCACACACGTATGT ATACACACGTATGTATACACACGTATGTATACACACAC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC4_chr13_95014835_95306451	95196582	GAGGAAGG others(57): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 NA18906.hp1 others(1): Show HG02055.hp2 HG02280.hp2 NA18906.hp1 NA18975.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0013 a0002c0004 a0005c0018 a0001c0013 a0002c0004 a0005c0018	a0001c0013t0001 a0002c0004t0001 a0002c0004t0002 others(1): Show a0001c0013t0001 a0002c0004t0001 a0002c0004t0002 a0005c0018t0002	a0001c0013t0001g0037 a0002c0004t0001g0153 a0002c0004t0002g0051 others(1): Show a0001c0013t0001g0037 a0002c0004t0001g0153 a0002c0004t0002g0051 a0005c0018t0002g0108	4	248	0.0161	-64	c.116 others(83): Show c.1162-1709_1162-1646delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	183956447	AATCACAT others(57): Show AATCACATCGGTTACATGCGGATCCGTGTGTATATCACATCTGTTACATG CGGATCCGTGTGTAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp2 HG02622.hp1 others(7): Show HG00735.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG03209.hp2 HG03540.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0358 others(7): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0365	10	378	0.0265	-64	c.248 others(83): Show c.2482+3222_2483-3178delATACACACGGATCCGCATGTAACAGA TGTGATATACACACGGATCCGCATGTAACCGATGTGAT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	183956980	ATCCGTGT others(57): Show ATCCGTGTGTACATCACATCGGTTACATGCGGATCCGTGTGTACATCACA TCGGTTACATGCGGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03579.hp1 HG01891.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0009	2	378	0.0053	-64	c.248 others(83): Show c.2482+2689_2482+2752delCCCGCATGTAACCGATGTGATGTACA CACGGATCCGCATGTAACCGATGTGATGTACACACGGA	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ABHD12B_chr14_50867053_50909970	50894147	GAGGGGCA others(57): Show GAGGGGCAAGTACCCCTCAACCCCTTCTCCTTCATCCTTAGTGGCAAGTC CCGCTTTCCTGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp2 HG01884.hp1 others(24): Show HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0004 a0003c0003 a0004c0007 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0006t0001 a0001c0006t0013 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0004t0005 a0002c0004t0006 a0002c0004t0010 a0003c0003t0003 a0004c0007t0001 a0009c0017t0006	a0001c0001t0001g0031 a0001c0001t0001g0182 a0001c0001t0001g0207 others(24): Show a0001c0001t0001g0031 a0001c0001t0001g0182 a0001c0001t0001g0207 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0004g0318 a0001c0006t0001g0059 a0001c0006t0001g0129 a0001c0006t0013g0028 a0002c0002t0005g0022 a0002c0002t0005g0024 a0002c0002t0005g0170 a0002c0002t0005g0171 a0002c0002t0005g0179 a0002c0002t0005g0217 a0002c0002t0005g0244 a0002c0002t0006g0317 a0002c0002t0011g0175 a0002c0004t0005g0072 a0002c0004t0006g0023 a0002c0004t0006g0169 a0002c0004t0006g0228 a0002c0004t0010g0205 a0003c0003t0003g0287 a0004c0007t0001g0167 a0004c0007t0001g0187 a0009c0017t0006g0224	27	376	0.0718	-64	c.780 others(81): Show c.780+5278_780+5341delTCCTTAGTGGCAAGTCCCGCTTTCCTGG GGCAGGGGCAAGTACCCCTCAACCCCTTCTCCTTCA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr14	TogoVar

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