Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CROCC2_chr2_240901336_240998311	240978964	GCCCAGGC others(398): Show GCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCT CAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02970.hp2 HG02622.hp1 HG02895.hp2 HG02970.hp2	a0001 a0058 a0001 a0058	a0001c0001 a0058c0027 a0001c0001 a0058c0027	a0001c0001t0003 a0058c0027t0003 a0001c0001t0003 a0058c0027t0003	a0001c0001t0003g0144 a0001c0001t0003g0145 a0058c0027t0003g0026 a0001c0001t0003g0144 a0001c0001t0003g0145 a0058c0027t0003g0026	3	350	0.0086	-405	c.440 others(19): Show c.4402-3894_4402-3490del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979166	TCTCTGGG others(398): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAAG	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	350	0.0029	-405	c.440 others(19): Show c.4402-3685_4402-3281del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979639	GCCCAGGC others(398): Show GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGGG GTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCT CAGGAT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0220 a0021c0019t0001g0220	1	350	0.0029	-405	c.440 others(19): Show c.4402-3196_4402-2792del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980426	TCTCTGGG others(398): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAAG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02027.hp1 HG02080.hp2 others(6): Show HG01981.hp2 HG02027.hp1 HG02080.hp2 HG02155.hp2 HG03942.hp2 NA18962.hp1 NA18973.hp2 NA18994.hp2 NA19090.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0089 a0007c0006 others(1): Show a0001c0001 a0001c0089 a0007c0006 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0089t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0089t0001 a0007c0006t0003 a0009c0010t0001	a0001c0001t0001g0095 a0001c0001t0002g0273 a0001c0001t0002g0274 others(6): Show a0001c0001t0001g0095 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0306 a0001c0089t0001g0139 a0007c0006t0003g0098 a0009c0010t0001g0222 a0009c0010t0001g0223 a0009c0010t0001g0230	9	350	0.0257	-405	c.440 others(19): Show c.4402-2431_4402-2027del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYBC1_chr17_82437586_82455752	82448246	AAGTGGAC others(398): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA CGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGA CTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGA ACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAG GTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCAC GTGGTT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	416	0.0024	-405	c.85+ others(13): Show c.85+519_86-626del	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
DCC_chr18_52335197_53540899	53086180	TCTTCTTT others(398): Show TCTTCTTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCC GTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTC TTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCT TCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCC TTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCT TTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCT TCTTCTTCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCT TCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTTCTTC TTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0026 a0001c0008t0026	a0001c0008t0026g0095 a0001c0008t0026g0095	1	114	0.0088	-405	c.126 others(21): Show c.1261+20021_1261+20425del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
EHHADH_chr3_185185624_185259049	185230540	CTAAACAA others(398): Show CTAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTT TATATGAAATATCCAGAATAGGCAAAACATGCTAAACAAAAAAAGCCAGT CACAGGAGACCACATATCGTATGATTCTGTTTATATGAAATATCCAGAAT AGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCA TATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACA AAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGA AATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGA GACCACATATCGTATGATTCTGTTTATATGAAATATCCAGAATAGGCAAA ACATGA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 NA18982.hp1 others(1): Show HG02055.hp1 HG02615.hp2 NA18982.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0237 a0001c0001t0001g0238 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239	4	348	0.0115	-405	c.352 others(16): Show c.352-1402_352-998del	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185230658	GTATGATT others(398): Show GTATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAAC AAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATG AAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGG AGACCACATATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAA AACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCGTATGAT TCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAA GCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGAAATATC CAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCAC ATATCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(128): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0009 a0011 a0012 a0014 a0016	a0001c0001 a0002c0004 a0004c0006 others(5): Show a0001c0001 a0002c0004 a0004c0006 a0009c0008 a0011c0012 a0012c0014 a0014c0016 a0016c0017	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0002c0004t0003 a0004c0006t0001 a0009c0008t0001 a0011c0012t0001 a0012c0014t0001 a0014c0016t0001 a0016c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0130 a0001c0001t0001g0131 others(125): Show a0001c0001t0001g0003 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0010g0142 a0001c0001t0011g0168 a0002c0004t0003g0250 a0004c0006t0001g0009 a0004c0006t0001g0191 a0004c0006t0001g0204 a0004c0006t0001g0208 a0009c0008t0001g0205 a0009c0008t0001g0207 a0011c0012t0001g0259 a0011c0012t0001g0260 a0012c0014t0001g0183 a0014c0016t0001g0199 a0016c0017t0001g0175	131	348	0.3764	-405	c.352 others(17): Show c.352-1520_352-1116del	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6			chr3	TogoVar
ERICH1_chr8_659200_736224	671312	GGCCCCGG others(398): Show GGCCCCGGCTCTAATGTCTGCGCTCACTGGGCTCCAGGCTGAGACCTCTG AACCTGCCGGCCCCGGCTCTAATGTCTGTGCTCACTGGGCTCCAGGCTGA GACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGTGCTCACTGGTCCC CAGGCTCCGACCTCTGAACGTGCCAGCCCCGGTTCTAATGTCTGTGCTCA CTGGGCTCCAGGCTCCGACCTCTGAACCTGCCGGCCCTGGCTGTAATGTC TGTGCCCACTGGTCCCCAGGCTCTGACCTCTGAACCCGCTGGCCCCTGCT CCGACCACTGAGCGCACTGGTCCCCAGGCTCCGACCTCTGAACCTGCCGG CCCCGGCCCTAATGTCTGTGCTCACTGGGCTCCAGGCTGCGACCTCTGAA CCTGCC	G G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	378	0.0027	-405	c.106 others(19): Show c.1063+1572_1063+1976del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
FARP2_chr2_241351285_241499841	241457356	GATCTGGG others(398): Show GATCTGGGTGCTAAGGGAGGGTGCACTAGGGACTGCTTTGGGTTCCGGAG AGGCTCTTGGGCAGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAG GGTACACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGAC CCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAGGGACCGCTT TGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGG GTGCTAAGGGAGGGTACACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCT TGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCAC TAAGGACCGCTTTGGGTTCTGGAGAGGCTCTTGGGCGGGAGACCCAGTGT AGAAAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp2 HG01168.hp2 others(6): Show HG01081.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG02965.hp2 HG03669.hp1 HG03704.hp2 NA18971.hp1	a0001 a0006 a0012 a0001 a0006 a0012	a0001c0001 a0006c0009 a0012c0023 a0001c0001 a0006c0009 a0012c0023	a0001c0001t0001 a0006c0009t0001 a0012c0023t0001 a0001c0001t0001 a0006c0009t0001 a0012c0023t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 others(6): Show a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0006c0009t0001g0183 a0006c0009t0001g0184 a0006c0009t0001g0185 a0006c0009t0001g0186 a0006c0009t0001g0187 a0012c0023t0001g0203	9	378	0.0238	-405	c.158 others(17): Show c.1587+467_1587+871del	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBLN7_chr2_112133385_112193218	112139319	CGTCCCTC others(398): Show CGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGG TCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTC CAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTC TCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCG CCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCT CCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTGT CCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCA GCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAC GCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(193): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0009 a0010	a0001c0001 a0001c0012 a0002c0002 others(5): Show a0001c0001 a0001c0012 a0002c0002 a0004c0004 a0006c0010 a0007c0011 a0009c0013 a0010c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0012t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0002 a0006c0010t0001 a0007c0011t0001 a0009c0013t0001 a0010c0006t0009	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(172): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0087 a0001c0001t0002g0105 a0001c0001t0002g0124 a0001c0001t0002g0160 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0002g0232 a0001c0001t0003g0012 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0005g0196 a0001c0001t0008g0186 a0001c0001t0008g0187 a0001c0001t0010g0163 a0001c0001t0011g0001 a0001c0012t0001g0106 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0002g0119 a0004c0004t0002g0020 a0006c0010t0001g0223 a0007c0011t0001g0205 a0009c0013t0001g0174 a0010c0006t0009g0247	196	346	0.5665	-405	c.75+ others(14): Show c.75+610_75+1014del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXN3_chr14_89151177_89422233	89361747	ACCTCCAC others(398): Show ACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCTCCAC CACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCT CCAGCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCAC TACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCA GCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACC TCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTAC CACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCA CCACCT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0057 a0001c0001t0013g0057	1	230	0.0044	-405	c.544 others(19): Show c.544-11344_544-10940del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRYL_chr4_48492357_48785279	48659513	AGGGAGAA others(398): Show AGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02735.hp2 HG03098.hp1 others(4): Show HG02451.hp2 HG02735.hp2 HG03098.hp1 HG03516.hp2 HG03579.hp1 HG03942.hp1 NA19078.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0021c0014	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0021c0014t0001	a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0002t0001g0064 others(4): Show a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0002t0001g0064 a0001c0002t0001g0119 a0002c0004t0001g0213 a0002c0004t0001g0216 a0021c0014t0001g0073	7	282	0.0248	-405	c.-81 others(19): Show c.-81+24755_-80-25024del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48659514	GGGAGAAG others(398): Show GGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	282	0.0036	-405	c.-81 others(19): Show c.-81+24754_-80-25025del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805942	TCCCCCCT others(398): Show TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCT TCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	314	0.0032	-405	c.17 others(11): Show c.1777_*2181del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1656		chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834892	CTGGGGGC others(398): Show CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02717.hp2 others(6): Show HG02257.hp1 HG02486.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 NA18522.hp2 NA19030.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0010 others(4): Show a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014	9	394	0.0228	-405	c.127 others(15): Show c.127+508_128-535del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
MGAM_chr7_141990879_142111747	142043016	ATATAAAA others(398): Show ATATAAAATATAAACATAATATCTAAATATAATATCTATATTATATATAC ATATAATATCTAAATATAATATATATATTATATATACATATAATATCTAA ATATAATATATATATTATATATACATATAATATCTAAATATAATATCTAT ATTATATATACATATAATATCTAAATATAATATATATATTATATATACAT ATAATATCTAAATATAATATATATATTATATATACATATAATATCTAAAT ATAATATATATATTATATATACATATAATATCTAAATATAATATATATAT TATATATACATATAATATCTAAATATAATATCTATATTATATATACATAT AATATCTAAATATAATATCTATATTATATATACATATAATATCTAAATAT AATATC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02055.hp1 others(9): Show HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02451.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03453.hp2 HG06807.hp2 NA19030.hp2	a0001 a0009 a0012 others(2): Show a0001 a0009 a0012 a0022 a0045	a0001c0015 a0001c0039 a0001c0041 others(6): Show a0001c0015 a0001c0039 a0001c0041 a0001c0133 a0009c0040 a0012c0042 a0012c0098 a0022c0136 a0045c0135	a0001c0015t0001 a0001c0039t0003 a0001c0041t0001 others(6): Show a0001c0015t0001 a0001c0039t0003 a0001c0041t0001 a0001c0133t0001 a0009c0040t0001 a0012c0042t0001 a0012c0098t0001 a0022c0136t0001 a0045c0135t0001	a0001c0015t0001g0312 a0001c0039t0003g0307 a0001c0041t0001g0243 others(9): Show a0001c0015t0001g0312 a0001c0039t0003g0307 a0001c0041t0001g0243 a0001c0041t0001g0304 a0001c0133t0001g0305 a0009c0040t0001g0115 a0009c0040t0001g0116 a0012c0042t0001g0008 a0012c0042t0001g0059 a0012c0098t0001g0224 a0022c0136t0001g0300 a0045c0135t0001g0306	12	316	0.0380	-405	c.249 others(19): Show c.2498+2175_2498+2579del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC4_chr3_195741771_195816929	195776325	TCATACCT others(398): Show TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAC CCATACCTTCCGCATCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCGCACCCATACCTTCCACACCCATACCTTCCGCACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02717.hp1 others(2): Show HG02451.hp2 HG02647.hp2 HG02717.hp1 HG03098.hp2 NA18906.hp2	a0068 a0069 a0071 others(2): Show a0068 a0069 a0071 a0072 a0080	a0068c0171 a0069c0172 a0071c0175 others(2): Show a0068c0171 a0069c0172 a0071c0175 a0072c0173 a0080c0170	a0068c0171t0005 a0069c0172t0005 a0071c0175t0005 others(2): Show a0068c0171t0005 a0069c0172t0005 a0071c0175t0005 a0072c0173t0004 a0080c0170t0005	a0068c0171t0005g0229 a0069c0172t0005g0230 a0071c0175t0005g0227 others(2): Show a0068c0171t0005g0229 a0069c0172t0005g0230 a0071c0175t0005g0227 a0072c0173t0004g0225 a0080c0170t0005g0240	5	249	0.0201	-405	c.129 others(21): Show c.12943+1573_12943+1977del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MYOM2_chr8_2040046_2150456	2085716	CTTTGTGG others(398): Show CTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTG ATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACT GTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCC CACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATC TCTTTG	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18986.hp1 NA19010.hp1 others(1): Show NA18959.hp1 NA18986.hp1 NA19010.hp1 NA19087.hp2	a0001 a0014 a0018 others(1): Show a0001 a0014 a0018 a0072	a0001c0003 a0014c0139 a0018c0018 others(1): Show a0001c0003 a0014c0139 a0018c0018 a0072c0143	a0001c0003t0001 a0014c0139t0001 a0018c0018t0001 others(1): Show a0001c0003t0001 a0014c0139t0001 a0018c0018t0001 a0072c0143t0001	a0001c0003t0001g0373 a0014c0139t0001g0359 a0018c0018t0001g0258 others(1): Show a0001c0003t0001g0373 a0014c0139t0001g0359 a0018c0018t0001g0258 a0072c0143t0001g0369	4	403	0.0099	-405	c.164 others(17): Show c.1644+328_1644+732del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2185849	GCCGGGCC others(398): Show GCCGGGCCTCCCAGACGCCCGCGTTCCTTACGTGAGGGGGACGCAGCCGG GCCTTCCGGGCCTTCCCAAGTCCCGCGTTCCTTCTGTGAGGCGGACGCAG CCGGGCCTCCCAGACGTCCGCGTTCCTTCCTTGAGGGGGACGCAGCCAGG CCTTCCGGGCCTTCCCGAGTCCCGCGTTCCTTCCGTGAGGCGGACGCAGC CGGGCCTCCCAGACGCCCGCGTTCCTTCCGTGAGGGGGACGCAGCCAGGC CTTCCGGGCCTTCCGGAGTCCCGCGTTCCTTCCGTGAGGGGGACGCAGCC GGGCCTCCCAGACGCCCGCGTTCCTTACGTGAGGGGGACGCAGCCAGGCC TTCCGGGCCTTCCCGAGTCCCGCGTTCCTTACGTGAGGGGGACGCAGCCA GGCCTT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp2 HG03486.hp1 others(2): Show HG02897.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0021 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0004 a0001c0005t0002 a0001c0005t0005	a0001c0001t0001g0079 a0001c0001t0021g0053 a0001c0002t0004g0003 others(2): Show a0001c0001t0001g0079 a0001c0001t0021g0053 a0001c0002t0004g0003 a0001c0005t0002g0099 a0001c0005t0005g0088	5	104	0.0481	-405	c.-42 others(21): Show c.-420-13266_-420-12862del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
NEU4_chr2_241804193_241822413	241805942	TCCCCCCT others(398): Show TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCT TCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0152 a0001c0005t0001g0152	1	319	0.0031	-405	c.-33 others(11): Show c.-3335_-2931del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3250		chr2	TogoVar
OR14A16_chr1_247809660_247829119	247821534	AGTTTTGA others(398): Show AGTTTTGACTTAAAGTCTATCTTATGTAAGTATAGCTACCTCTGCTCTGT TTGATACCCATTTGGATGGAATATCCTGTCATCCTTATACTTTCAATCTA CATGTGTCCTTTATGATGATGTGACTCACTTGAAGGCAAGGTATATTATC TATGCACCCACTTTATGTCTTTTGATTGGAACATTTAATTCATTTGCAGT TGATAAACTGGGTAGTACTTACTGCTGCCATTTTGTTAAATATTTTCTGG AGTTCTTTTGTGTGTTTTTAAAATAGATTCTTTGTTCCTTTCTTCACCTT TTGCTGTCTTCCTTTGTGATTAGATTTTCTCTAGTGGTGTGCCTTGATTC CTTACTTTTTATCCTTTTTGTGTCTACTATAGGTTTTGGCTTTTTTGGTT AGTATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(29): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02683.hp1 HG03139.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0002 a0001c0003t0001 a0001c0008t0002	a0001c0003t0001g0002 a0001c0003t0001g0025 a0001c0003t0001g0033 others(3): Show a0001c0003t0001g0002 a0001c0003t0001g0025 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0008t0002g0014 a0001c0008t0002g0032	32	342	0.0936	-405	c.-13 others(19): Show c.-131+2014_-130-2358del	OR14A16	ENSG00000196772.5	transcript	ENST00000641093.1	protein_coding	1/2			chr1	TogoVar
PLEKHA4_chr19_48832097_48873617	48834892	CTGGGGGC others(398): Show CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02717.hp1 others(6): Show HG02257.hp2 HG02486.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 NA18522.hp2 NA19030.hp2 NA20129.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0008 a0003c0003t0018 a0005c0005t0009 a0003c0003t0008 a0003c0003t0018 a0005c0005t0009	a0003c0003t0008g0002 a0003c0003t0008g0100 a0003c0003t0008g0101 others(4): Show a0003c0003t0008g0002 a0003c0003t0008g0100 a0003c0003t0008g0101 a0003c0003t0008g0102 a0003c0003t0018g0231 a0005c0005t0009g0008 a0005c0005t0009g0153	9	300	0.0300	-405	c.19 others(11): Show c.1992_*2396del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2204		chr19	TogoVar
SERPINF2_chr17_1737871_1760265	1740102	AGGACAGT others(398): Show AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTG GGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGA GGAGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01928.hp1 HG02040.hp1 others(4): Show HG00621.hp1 HG01928.hp1 HG02040.hp1 HG03688.hp1 HG04115.hp2 NA18994.hp2 NA19074.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0016 a0003c0003 a0011c0016	a0003c0003t0001 a0003c0003t0004 a0011c0016t0004 a0003c0003t0001 a0003c0003t0004 a0011c0016t0004	a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0117 others(3): Show a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0117 a0003c0003t0004g0151 a0003c0003t0004g0156 a0011c0016t0004g0046	7	445	0.0157	-405	c.-28 others(11): Show c.-2810_-2406del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2768		chr17	TogoVar
SMOC2_chr6_168436184_168672992	168592681	GGGCATCT others(398): Show GGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01081.hp1 others(20): Show HG00099.hp2 HG00597.hp1 HG01081.hp1 HG01243.hp2 HG01516.hp1 HG01516.hp2 HG02109.hp2 HG02602.hp1 HG02896.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp1 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0013 a0001c0002t0016 a0001c0004t0005	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0131 others(20): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0013g0062 a0001c0002t0016g0046 a0001c0004t0005g0048	23	180	0.1278	-405	c.638 others(17): Show c.638-6136_638-5732del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SNTG2_chr2_945849_1372613	1013260	GAGAGAAG others(398): Show GAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGG TCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGAT TTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGA GAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTC TGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTT ATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGA GAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTG TAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTAT ATGGGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0050 a0006c0009t0001g0050	1	190	0.0053	-405	c.72+ others(17): Show c.72+62198_72+62602del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SUB1_chr5_32580557_32609079	32606362	ATGGTCTC others(398): Show ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAG TGCTGGGATTAAAGGCTTGAGCCACCACACCCGGCGTCAGCAACAGTTTC AACCACTTCCCACTTTTTTTTTTTTTGGTGACTAAGTGCCACCTGAACCA TGAGTACTTCTAGTAATTTTAAAGAAAAATATGAATTACTACTTTTTTTT TTGTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCACCAGGCTGGAGTGCA GTGGCACGATCTCGGCTCACTGCATCCTCCACCTCCCAGGTTCAAGCAAT TCTCTGCCTCAGCCTCCTGAGTAGGAGGGATTACAGGCGCCCACACCAGG CCCGGCTAATTTTTTGTACTTTTAGTAGAGATAGGGTTTCACCATCTTGG CCAGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02622.hp2 HG01243.hp1 HG02486.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	446	0.0067	-405	c.52 others(11): Show c.5279_*5683del	SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding		2284		chr5	TogoVar
TCF3_chr19_1604292_1657615	1628631	ACGGGGTG others(398): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGA AAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAG GCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGG CGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGC AGAGCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp2 HG01884.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0009 a0005c0010 a0001c0009 a0005c0010	a0001c0009t0050 a0005c0010t0018 a0001c0009t0050 a0005c0010t0018	a0001c0009t0050g0168 a0005c0010t0018g0170 a0001c0009t0050g0168 a0005c0010t0018g0170	2	352	0.0057	-405	c.299 others(17): Show c.299-1610_299-1206del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
WDR81_chr17_1719704_1743585	1740102	AGGACAGT others(398): Show AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTG GGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGA GGAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02148.hp1 HG02273.hp1 others(3): Show HG02004.hp2 HG02148.hp1 HG02273.hp1 HG04115.hp2 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0063 a0001c0003 a0001c0017 a0001c0063	a0001c0003t0001 a0001c0017t0001 a0001c0063t0001 a0001c0003t0001 a0001c0017t0001 a0001c0063t0001	a0001c0003t0001g0003 a0001c0017t0001g0003 a0001c0063t0001g0003 a0001c0003t0001g0003 a0001c0017t0001g0003 a0001c0063t0001g0003	6	431	0.0139	-405	c.24 others(11): Show c.2418_*2822del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1518		chr17	TogoVar
XXYLT1_chr3_195063284_195276159	195143879	TATATATA others(398): Show TATATATATATTTATTTTTTATTTTTATTTTTTTTTTGAGATGGACTCTT GCTGTCATCCAGGCTGGAGTGCAAGGGCGAGATCTTGGCTCACTGCAACC TCTGCTTCCAGGTTCAAGCAATTCTCCTGCTCAGACTCCCAAGTAGCTGG GATTACAGGCACCCGCCACCACGCCCAGCTGATTTTTGTATTTTTATTAG AGACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTA AGTGATCCACCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGGCATGAG CCACCGTGCCTGGCCAACCGCCCACTCCACTCCATCTCGAGTGTGATATG GCATGTGGACCGGGGACTGGGCCTCTTCTAATCTGATCGGTGCAAATGGC TGGCTA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	198	0.0051	-405	c.785 others(19): Show c.785+12165_785+12569del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ZNF516_chr18_76352682_76500242	76423898	CGCAGGTG others(398): Show CGCAGGTGAAAAGGCTCCCTCCTGAAACACACATGCAGGTGAAAAGGCTC CCCCGAAACACACGCAGGTGAAAAGGCTCCCCCGAAACACACACAGGTAA AAAGGCTTCACCCCTGAAACACCCACACGCAGGTGAAAGGGTCCCCCCCG AAACACACGCAGGTGAAAAGGCTCCCTCCTGAAACATACACACGCAGGTG AAAAGGCTCCCCCGAAACACACGCAGGTGAAAAGTTTCCCCCATGAAACA CACGCAGGTGAAAAGGTTACCCCATGAAACACATGCAGGTGAAAAGGCTC CCCCGAAACACACACTCAGGTGAAAAGGTTCCCCCGAAACACACGCACGT GAAAAGGCTCCCTCCTGAAACACACATGCAGGTGAAAAGGCTCCCCCGAA ACACAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01928.hp2 HG01993.hp2 others(4): Show HG01123.hp1 HG01928.hp2 HG01993.hp2 HG02273.hp1 HG02300.hp1 NA18906.hp1 NA19000.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0001c0002 a0018c0023 a0001c0001 a0001c0002 a0018c0023	a0001c0001t0001 a0001c0001t0039 a0001c0001t0047 others(4): Show a0001c0001t0001 a0001c0001t0039 a0001c0001t0047 a0001c0001t0168 a0001c0002t0163 a0001c0002t0167 a0018c0023t0069	a0001c0001t0001g0086 a0001c0001t0039g0085 a0001c0001t0047g0022 others(4): Show a0001c0001t0001g0086 a0001c0001t0039g0085 a0001c0001t0047g0022 a0001c0001t0168g0087 a0001c0002t0163g0080 a0001c0002t0167g0091 a0018c0023t0069g0101	7	346	0.0202	-405	c.181 others(21): Show c.1810+16942_1810+17346del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AFDN_chr6_167821911_167977023	167940993	ATGTGTGG others(397): Show ATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAG GGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGAC ACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGT GGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAG AGGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0178 a0001c0006t0013g0178	1	326	0.0031	-404	c.310 others(19): Show c.3100-2131_3100-1728del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167941050	GGTGTGTG others(397): Show GGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCC ACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAA CCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAG GGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTA GGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGG GATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGA CACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGGTGTG TGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGA GAGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(50): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01123.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01934.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03710.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18968.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18995.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0010 others(4): Show a0001c0003 a0001c0005 a0001c0010 a0001c0024 a0001c0031 a0002c0014 a0002c0022	a0001c0003t0001 a0001c0003t0021 a0001c0005t0001 others(5): Show a0001c0003t0001 a0001c0003t0021 a0001c0005t0001 a0001c0010t0001 a0001c0024t0001 a0001c0031t0001 a0002c0014t0001 a0002c0022t0001	a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0011 others(50): Show a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0017 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0035 a0001c0003t0001g0039 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0068 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0205 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0021g0062 a0001c0005t0001g0002 a0001c0005t0001g0026 a0001c0005t0001g0041 a0001c0005t0001g0049 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0001g0056 a0001c0005t0001g0063 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0072 a0001c0005t0001g0075 a0001c0005t0001g0084 a0001c0005t0001g0085 a0001c0005t0001g0276 a0001c0005t0001g0310 a0001c0010t0001g0099 a0001c0010t0001g0101 a0001c0010t0001g0102 a0001c0024t0001g0124 a0001c0031t0001g0046 a0002c0014t0001g0020 a0002c0022t0001g0036	53	326	0.1626	-404	c.310 others(19): Show c.3100-2073_3100-1670del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167941109	ATGTGGAC others(397): Show ATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACA GGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAAC CATCCACAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGG GTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGG GTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGG ATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGAC ACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGT GGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAG AGGTG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0284 a0001c0007t0001g0284	1	326	0.0031	-404	c.310 others(19): Show c.3100-1964_3100-1561del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
CACNG7_chr19_53904278_53948950	53922562	CTGGTCAT others(397): Show CTGGTCATTGGTGGAGTTGTCCCAGGACTGGTCATTGGTGCAGTTGTCCC AGGCCTGGTCATTGGTGCAGTTGTCCCCAGGCCTGGTCATTGGTGCAGTT GTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGG TGGGGTTGTCCCAGGCTCGTCATTGGTGGAGTTGCCCCAGGTCTGGTCAT TGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGG TCATTGGTGGAGTTGACTCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCC TGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGCCCCA GGTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03209.hp2 NA19030.hp1 HG02615.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0004g0354 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0004g0354	3	364	0.0082	-404	c.424 others(17): Show c.424+7058_424+7461del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CST8_chr20_23486117_23501010	23490062	TATATAAA others(397): Show TATATAAATTATATATATATTAATTATATATATAATATATATATAAATTA TATATATATTAATTATATATATAATATATATATAAATTATATATATATTA ATTATATATAATATATATATAAATTATATATATATTAATTATATATAATA TATATATAAATTATATATATATTAATTATATATATAATATATATATAAAT TATATATATATTAATTATATATATATAAAATATATATAATTTATATATAT AAAATATATATAATTTATATATATAAATTATATATAAAATATATATAATT TATATATATAAATTATATATAAAATATATATAATTTATATATAAAAATTA TATATAAATTATATATATAAAATATATATATAAATTGTATATATATAAAA TATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02630.hp1 others(1): Show HG02109.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0051	4	440	0.0091	-404	c.-14 others(11): Show c.-1423_-1020del	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1054		chr20	TogoVar
DACT2_chr6_168301904_168324777	168317206	CTGGTGCA others(397): Show CTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTT CCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACG CAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGC ACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCT GCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAAC ACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATT GTGTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp2 HG01256.hp2 others(2): Show HG01106.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0022 a0002c0002t0004g0114 a0002c0002t0004g0115 a0002c0002t0004g0022 a0002c0002t0004g0114 a0002c0002t0004g0115	5	476	0.0105	-404	c.246 others(17): Show c.246+1778_246+2181del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DPP6_chr7_154047398_154899285	154657010	CCCAGAGA others(397): Show CCCAGAGATGAGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGT GGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGT GGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGATGCT CGAGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAG AGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGA GGAGATGCTCGAGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGG TGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGC TGCGTGGGAGGAGATGCTCGAGTGGGTGGAGAGGCTGCGTTGGAGGAGGT GCTCA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	-404	c.681 others(19): Show c.681-12349_681-11946del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805864	TCCCCCCT others(397): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0150 a0002c0002t0002g0150	1	314	0.0032	-404	c.16 others(11): Show c.1699_*2102del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1578		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805917	AGGAACCT others(397): Show AGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCT CCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02015.hp2 HG02004.hp2 HG02015.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0175 a0003c0003t0001g0232 a0001c0001t0001g0175 a0003c0003t0001g0232	2	314	0.0064	-404	c.17 others(11): Show c.1752_*2155del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1631		chr2	TogoVar
GRIN1_chr9_137134154_137173756	137144731	TGTGGGGA others(397): Show TGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCC CCAGGGTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTA GAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCC CAGAGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAG GGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGA GAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACA GGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGT GGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCA GAGGG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	298	0.0034	-404	c.394 others(15): Show c.394-986_394-583del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144769	CAGAAAGT others(397): Show CAGAAAGTGTCCCCAGGGTGGTAGGGACAGGGGTGGGAGACACGAGGGGG TCCCAGGGTCTAGAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGAC ACGAGGGGGTCCCAGAGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGG GGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGG GGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGA GGGGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGT CCCCAGAGGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAG AAAGTGTCCCCAGAGGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAG GGTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG02965.hp2 others(7): Show HG01243.hp2 HG01261.hp2 HG02965.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0033 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0141	10	298	0.0336	-404	c.394 others(15): Show c.394-939_394-536del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GYG2_chrX_2823930_2887818	2845039	ATGTGTAT others(397): Show ATGTGTATGTATATATACACGTGTGTATGTATATTTATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTT ATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTAT ATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT ACACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01981.hp1 HG02056.hp1 others(6): Show HG00099.hp2 HG01981.hp1 HG02056.hp1 HG02132.hp1 HG03239.hp1 NA18612.hp1 NA18959.hp1 NA18969.hp2 NA18975.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0009 a0002c0002 a0005c0009	a0002c0002t0001 a0002c0002t0004 a0005c0009t0002 a0002c0002t0001 a0002c0002t0004 a0005c0009t0002	a0002c0002t0001g0146 a0002c0002t0004g0006 a0002c0002t0004g0137 others(6): Show a0002c0002t0001g0146 a0002c0002t0004g0006 a0002c0002t0004g0137 a0002c0002t0004g0167 a0002c0002t0004g0169 a0002c0002t0004g0171 a0002c0002t0004g0172 a0002c0002t0004g0300 a0005c0009t0002g0162	9	316	0.0285	-404	c.149 others(17): Show c.149+1699_149+2102del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H1-7_chr12_48323980_48335279	48332491	GGGGCGGC others(397): Show GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACGCCCCCACCTCCCTCCC GGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG02055.hp1 others(10): Show HG01099.hp1 HG01891.hp2 HG02055.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	13	424	0.0307	-404	c.24 others(11): Show c.2433_*2836del	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2213		chr12	TogoVar
HSD17B14_chr19_48808018_48841491	48834824	GGCCTGGA others(397): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG TGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGC TGGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp2 HG02109.hp2 HG03209.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0011 a0002c0002 a0005c0011	a0002c0002t0001 a0005c0011t0001 a0002c0002t0001 a0005c0011t0001	a0002c0002t0001g0289 a0005c0011t0001g0290 a0002c0002t0001g0289 a0005c0011t0001g0290	2	394	0.0051	-404	c.127 others(15): Show c.127+577_128-467del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
LLGL2_chr17_75520697_75580209	75577001	CGCCTGTA others(397): Show CGCCTGTAATCGCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAAGT CAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGTCCCAGC TACTCAGGAGGCTGAGGCAGGACAGTGGGGTGAACCCAGGAGGCAGAGCT TGCAGTGAGCCGAGATCATGCCACCCCACTCCAGCCTGGGCGACAGAGTG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAATATTCCCACTGGG AGTGTGAGATGAACAACAATTTGTATTGATGGGTGTGCAAGATGGAAGGA CGTGGCATCTTCCTCTCTAGAAAGTGAACTGGAGGGGCCGGGAGCGGTGG CTCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03486.hp1 HG03486.hp2 others(2): Show HG03209.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2	a0002 a0008 a0027 a0002 a0008 a0027	a0002c0006 a0002c0055 a0008c0041 others(1): Show a0002c0006 a0002c0055 a0008c0041 a0027c0040	a0002c0006t0003 a0002c0006t0005 a0002c0055t0003 others(2): Show a0002c0006t0003 a0002c0006t0005 a0002c0055t0003 a0008c0041t0003 a0027c0040t0003	a0002c0006t0003g0025 a0002c0006t0005g0112 a0002c0055t0003g0215 others(2): Show a0002c0006t0003g0025 a0002c0006t0005g0112 a0002c0055t0003g0215 a0008c0041t0003g0092 a0027c0040t0003g0188	5	382	0.0131	-404	c.21 others(11): Show c.2124_*2527del	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding		1793		chr17	TogoVar
LUC7L_chr16_183990_234449	186781	GGGGAACA others(397): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	350	0.0029	-404	c.20 others(11): Show c.2013_*2416del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2208		chr16	TogoVar
NELL1_chr11_20664586_21580686	20748774	TATGCGTG others(397): Show TATGCGTGTATATATATAATTTTCTTTATCCACTCATCAGTTGATGGGCA CTTAGGTTGGTTCCATGTCTTTGCAATTGCGTATTGGAGCATATTCTATC ATCCATCCATCCATCCATCCATCCATCCACCCAGCCACCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATATTTTGACATATAT TTACTGAGGGGCTGTTATACCCTAGGAATTGTTTTAAGCAATAGGGTTAG AATGGAGAACAAAGCAGACAAAACCTCTACTCTCATGGGATTTATAATCC AGTGATAGAAACAGACGTTAAATGATTATAAGTAATGCAGCTATTCTAGG GCTGTTTGATCTTGGTTGAGTGATAATTCTTTGTACAGTTAGCTTTTAGG GCAGG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0005 a0011c0017t0005	a0011c0017t0005g0027 a0011c0017t0005g0027	1	88	0.0114	-404	c.185 others(19): Show c.185-34905_185-34502del	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19			chr11	TogoVar
NEU4_chr2_241804193_241822413	241805864	TCCCCCCT others(397): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0104 a0001c0004t0010g0104	1	319	0.0031	-404	c.-34 others(11): Show c.-3413_-3010del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3328		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805917	AGGAACCT others(397): Show AGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCT CCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-404	c.-33 others(11): Show c.-3360_-2957del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3275		chr2	TogoVar

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