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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Select column to sort.

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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
GFPT2_chr5_180295698_180358336	180332256	AGGGGGAT others(2): Show AGGGGGATGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01167.hp2 others(30): Show HG00099.hp1 HG00280.hp1 HG01167.hp2 HG01952.hp2 HG02015.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0002c0007 a0003c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0003t0001 a0001c0004t0001 a0001c0004t0006 a0001c0005t0004 a0001c0005t0011 a0001c0005t0017 a0001c0005t0019 a0001c0005t0023 a0001c0012t0001 a0002c0007t0001 a0003c0006t0002	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0183 others(29): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0006g0378 a0001c0001t0006g0381 a0001c0001t0006g0385 a0001c0001t0006g0386 a0001c0001t0006g0389 a0001c0001t0006g0390 a0001c0001t0018g0372 a0001c0001t0018g0373 a0001c0003t0001g0188 a0001c0004t0001g0185 a0001c0004t0001g0187 a0001c0004t0006g0382 a0001c0005t0004g0192 a0001c0005t0004g0193 a0001c0005t0004g0195 a0001c0005t0004g0196 a0001c0005t0004g0198 a0001c0005t0004g0201 a0001c0005t0004g0222 a0001c0005t0011g0278 a0001c0005t0017g0369 a0001c0005t0019g0383 a0001c0005t0019g0388 a0001c0005t0023g0239 a0001c0012t0001g0116 a0002c0007t0001g0197 a0003c0006t0002g0014	33	412	0.0801	-9	c.341 others(24): Show c.341-712_341-704delGCATCCCCC	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	4/18			chr5	TogoVar
GFPT2_chr5_180295698_180358336	180346667	CGCCCCTG others(2): Show CGCCCCTGGG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03239.hp2 NA18747.hp1 others(9): Show HG01975.hp1 HG03239.hp2 NA18747.hp1 NA18946.hp1 NA18966.hp2 NA18995.hp1 NA19004.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19074.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0006 others(1): Show a0001c0003 a0002c0002 a0003c0006 a0003c0013	a0001c0003t0001 a0002c0002t0003 a0003c0006t0001 others(1): Show a0001c0003t0001 a0002c0002t0003 a0003c0006t0001 a0003c0013t0001	a0001c0003t0001g0231 a0002c0002t0003g0053 a0003c0006t0001g0223 others(9): Show a0001c0003t0001g0231 a0002c0002t0003g0053 a0003c0006t0001g0223 a0003c0006t0001g0224 a0003c0006t0001g0225 a0003c0006t0001g0226 a0003c0006t0001g0229 a0003c0006t0001g0230 a0003c0006t0001g0232 a0003c0006t0001g0233 a0003c0013t0001g0227 a0003c0013t0001g0228	12	412	0.0291	-9	c.7+6 others(22): Show c.7+6535_7+6543delCCCAGGGGC	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	1/18			chr5	TogoVar
GFPT2_chr5_180295698_180358336	180353292	CCTCCGTG others(2): Show CCTCCGTGGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0012 a0001c0018 a0001c0021 a0002c0002 a0002c0007 a0002c0020 a0003c0006 a0003c0014 a0005c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(25): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0003t0002 a0001c0003t0006 a0001c0003t0026 a0001c0004t0002 a0001c0004t0006 a0001c0005t0002 a0001c0005t0006 a0001c0005t0011 a0001c0005t0015 a0001c0005t0016 a0001c0005t0019 a0001c0005t0027 a0001c0005t0031 a0001c0009t0002 a0001c0009t0006 a0001c0012t0002 a0001c0018t0028 a0001c0021t0002 a0002c0002t0009 a0002c0002t0022 a0002c0007t0002 a0002c0020t0002 a0003c0006t0002 a0003c0014t0002 a0005c0010t0002	a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0264 others(139): Show a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0324 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0359 a0001c0001t0006g0374 a0001c0001t0006g0376 a0001c0001t0006g0378 a0001c0001t0006g0379 a0001c0001t0006g0381 a0001c0001t0006g0385 a0001c0001t0006g0386 a0001c0001t0006g0389 a0001c0001t0006g0390 a0001c0001t0014g0260 a0001c0001t0014g0305 a0001c0003t0002g0001 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0252 a0001c0003t0002g0253 a0001c0003t0002g0262 a0001c0003t0002g0266 a0001c0003t0002g0267 a0001c0003t0002g0269 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0003t0002g0284 a0001c0003t0002g0286 a0001c0003t0002g0289 a0001c0003t0002g0290 a0001c0003t0002g0291 a0001c0003t0002g0292 a0001c0003t0002g0293 a0001c0003t0002g0294 a0001c0003t0002g0300 a0001c0003t0002g0302 a0001c0003t0002g0303 a0001c0003t0002g0308 a0001c0003t0002g0309 a0001c0003t0002g0311 a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0317 a0001c0003t0002g0318 a0001c0003t0002g0320 a0001c0003t0002g0322 a0001c0003t0002g0323 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0329 a0001c0003t0002g0332 a0001c0003t0002g0342 a0001c0003t0002g0352 a0001c0003t0002g0357 a0001c0003t0002g0361 a0001c0003t0002g0362 a0001c0003t0002g0363 a0001c0003t0006g0387 a0001c0003t0026g0353 a0001c0004t0002g0013 a0001c0004t0002g0258 a0001c0004t0002g0276 a0001c0004t0002g0285 a0001c0004t0002g0326 a0001c0004t0002g0347 a0001c0004t0002g0365 a0001c0004t0006g0375 a0001c0004t0006g0382 a0001c0005t0002g0358 a0001c0005t0006g0380 a0001c0005t0011g0254 a0001c0005t0011g0277 a0001c0005t0011g0278 a0001c0005t0011g0298 a0001c0005t0015g0321 a0001c0005t0015g0366 a0001c0005t0016g0306 a0001c0005t0016g0310 a0001c0005t0019g0383 a0001c0005t0019g0388 a0001c0005t0027g0270 a0001c0005t0031g0377 a0001c0009t0002g0367 a0001c0009t0006g0384 a0001c0012t0002g0261 a0001c0018t0028g0325 a0001c0021t0002g0271 a0002c0002t0009g0255 a0002c0002t0009g0259 a0002c0002t0009g0263 a0002c0002t0009g0287 a0002c0002t0009g0295 a0002c0002t0009g0301 a0002c0002t0009g0304 a0002c0002t0009g0360 a0002c0002t0022g0021 a0002c0007t0002g0017 a0002c0007t0002g0333 a0002c0007t0002g0334 a0002c0007t0002g0364 a0002c0020t0002g0315 a0003c0006t0002g0014 a0003c0014t0002g0307 a0003c0014t0002g0319 a0005c0010t0002g0256 a0005c0010t0002g0257	153	412	0.3714	-9	c.-84 others(16): Show c.-84_-76delCCCACGGAG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	1/19	76		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116166806	TTTTTTTT others(2): Show TTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG03669.hp1 others(2): Show HG01109.hp2 HG02257.hp2 HG03669.hp1 HG04115.hp2 NA19012.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0001 a0001c0001t0072 a0001c0001t0103 others(1): Show a0001c0001t0001 a0001c0001t0072 a0001c0001t0103 a0003c0015t0094	a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0072g0162 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0072g0162 a0001c0001t0103g0104 a0003c0015t0094g0046	5	214	0.0234	-9	c.434 others(28): Show c.434-41258_434-41250delCAAAAAAAA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116244264	AATAGAAA others(2): Show AATAGAAACT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(69): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03710.hp2 NA18522.hp1 NA18906.hp2 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18995.hp2 NA19000.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19240.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0006 a0004c0008 a0005c0009 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0032 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0057 a0001c0001t0066 a0001c0001t0069 a0001c0001t0087 a0001c0001t0090 a0001c0001t0098 a0001c0001t0105 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0021 a0001c0002t0033 a0001c0002t0055 a0001c0002t0056 a0001c0002t0058 a0001c0002t0065 a0001c0002t0067 a0001c0002t0073 a0001c0002t0076 a0001c0002t0079 a0001c0002t0081 a0001c0002t0083 a0001c0002t0089 a0001c0002t0129 a0001c0005t0046 a0001c0005t0050 a0001c0005t0068 a0002c0003t0001 a0002c0003t0008 a0002c0003t0011 a0002c0003t0012 a0002c0003t0034 a0002c0003t0039 a0002c0003t0062 a0002c0004t0054 a0002c0004t0084 a0003c0006t0023 a0004c0008t0009 a0005c0009t0086 a0007c0007t0002	a0001c0001t0001g0041 a0001c0001t0002g0029 a0001c0001t0003g0204 others(69): Show a0001c0001t0001g0041 a0001c0001t0002g0029 a0001c0001t0003g0204 a0001c0001t0007g0021 a0001c0001t0007g0025 a0001c0001t0008g0031 a0001c0001t0010g0179 a0001c0001t0010g0185 a0001c0001t0013g0194 a0001c0001t0015g0181 a0001c0001t0017g0211 a0001c0001t0020g0016 a0001c0001t0020g0030 a0001c0001t0032g0085 a0001c0001t0042g0205 a0001c0001t0043g0206 a0001c0001t0044g0209 a0001c0001t0051g0203 a0001c0001t0052g0195 a0001c0001t0057g0189 a0001c0001t0066g0192 a0001c0001t0069g0202 a0001c0001t0087g0017 a0001c0001t0090g0007 a0001c0001t0098g0043 a0001c0001t0105g0042 a0001c0002t0001g0039 a0001c0002t0002g0013 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0037 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0212 a0001c0002t0007g0022 a0001c0002t0009g0024 a0001c0002t0010g0180 a0001c0002t0011g0199 a0001c0002t0012g0208 a0001c0002t0014g0196 a0001c0002t0017g0191 a0001c0002t0021g0036 a0001c0002t0033g0044 a0001c0002t0055g0198 a0001c0002t0056g0197 a0001c0002t0058g0213 a0001c0002t0065g0201 a0001c0002t0067g0200 a0001c0002t0073g0034 a0001c0002t0076g0038 a0001c0002t0079g0014 a0001c0002t0081g0012 a0001c0002t0083g0015 a0001c0002t0089g0033 a0001c0002t0129g0051 a0001c0005t0046g0174 a0001c0005t0050g0176 a0001c0005t0068g0175 a0002c0003t0001g0133 a0002c0003t0008g0023 a0002c0003t0011g0178 a0002c0003t0012g0193 a0002c0003t0034g0001 a0002c0003t0034g0040 a0002c0003t0039g0207 a0002c0003t0062g0190 a0002c0004t0054g0210 a0002c0004t0084g0032 a0003c0006t0023g0048 a0004c0008t0009g0004 a0005c0009t0086g0005 a0007c0007t0002g0003	72	214	0.3365	-9	c.418 others(28): Show c.418+25230_418+25238delAGTTTCTAT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21688456	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02280.hp2 HG02615.hp2 others(14): Show HG02083.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp1 HG06807.hp2 NA19043.hp1 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0019 a0002c0021 a0004c0009 a0005c0012 a0007c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0004t0013 a0001c0006t0023 a0001c0019t0020 a0002c0021t0010 a0004c0009t0013 a0005c0012t0010 a0007c0024t0019	a0001c0001t0001g0160 a0001c0001t0006g0018 a0001c0001t0013g0182 others(14): Show a0001c0001t0001g0160 a0001c0001t0006g0018 a0001c0001t0013g0182 a0001c0001t0013g0240 a0001c0001t0019g0025 a0001c0001t0019g0070 a0001c0001t0020g0307 a0001c0001t0020g0309 a0001c0004t0013g0230 a0001c0004t0013g0232 a0001c0006t0023g0208 a0001c0006t0023g0234 a0001c0019t0020g0310 a0002c0021t0010g0225 a0004c0009t0013g0190 a0005c0012t0010g0198 a0007c0024t0019g0062	17	322	0.0528	-9	c.48 others(20): Show c.4813_*4821delTTTTTTTTT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding		1941		chr8	TogoVar
GFRA2_chr8_21685398_21793875	21767084	ACACACAC others(2): Show ACACACACCC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01884.hp2 HG02109.hp2 others(5): Show HG00438.hp1 HG01884.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02809.hp2 HG02965.hp2 HG03453.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0005c0013	a0001c0001t0006 a0001c0001t0019 a0001c0006t0009 others(3): Show a0001c0001t0006 a0001c0001t0019 a0001c0006t0009 a0002c0002t0002 a0002c0002t0008 a0005c0013t0003	a0001c0001t0006g0036 a0001c0001t0019g0025 a0001c0006t0009g0305 others(5): Show a0001c0001t0006g0036 a0001c0001t0019g0025 a0001c0006t0009g0305 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0081 a0002c0002t0008g0220 a0005c0013t0003g0201	8	322	0.0248	-9	c.439 others(26): Show c.439+7879_439+7887delGGGTGTGTG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	3/8			chr8	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02257.hp1 HG02257.hp2 others(8): Show HG01515.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02809.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 NA18962.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0267 a0001c0001t0002g0265 a0001c0001t0002g0266 others(8): Show a0001c0001t0001g0267 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0002t0001g0268 a0001c0002t0001g0298	11	357	0.0308	-9	c.93+ others(24): Show c.93+2827_93+2835delAAAAAAAAA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575635	TATATATA others(2): Show TATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01255.hp1 others(10): Show HG00280.hp2 HG00733.hp2 HG01255.hp1 HG02572.hp2 NA18943.hp2 NA18966.hp2 NA18970.hp2 NA18974.hp1 NA18983.hp1 NA18998.hp2 NA19063.hp2 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0036 a0001c0002t0003g0049 others(10): Show a0001c0002t0003g0029 a0001c0002t0003g0036 a0001c0002t0003g0049 a0001c0002t0003g0052 a0001c0002t0003g0107 a0001c0002t0003g0134 a0001c0002t0003g0183 a0001c0002t0003g0192 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0293	13	357	0.0364	-9	c.642 others(26): Show c.642-2347_642-2339delATATATATA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13			chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575637	TATATATA others(2): Show TATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00741.hp1 others(49): Show HG00140.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01169.hp1 HG01255.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02572.hp1 HG03239.hp2 HG03491.hp1 HG04115.hp1 NA18612.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18982.hp1 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0003 a0003c0005t0003 a0001c0002t0003 a0003c0005t0003	a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0022 others(48): Show a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0041 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0051 a0001c0002t0003g0090 a0001c0002t0003g0133 a0001c0002t0003g0162 a0001c0002t0003g0164 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0182 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0195 a0001c0002t0003g0203 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0270 a0001c0002t0003g0276 a0001c0002t0003g0278 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0294 a0003c0005t0003g0002	52	357	0.1457	-9	c.642 others(26): Show c.642-2345_642-2337delATATATATA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13			chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575639	TATATATA others(2): Show TATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01123.hp1 others(13): Show HG00408.hp1 HG00642.hp1 HG01123.hp1 HG01192.hp1 HG02071.hp1 HG02155.hp1 HG02886.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18967.hp2 NA18969.hp1 NA18978.hp1 NA19030.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0268 a0001c0002t0001g0298 a0001c0002t0003g0042 others(13): Show a0001c0002t0001g0268 a0001c0002t0001g0298 a0001c0002t0003g0042 a0001c0002t0003g0048 a0001c0002t0003g0055 a0001c0002t0003g0061 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0163 a0001c0002t0003g0181 a0001c0002t0003g0187 a0001c0002t0003g0194 a0001c0002t0003g0271 a0001c0002t0003g0273 a0001c0002t0003g0292 a0001c0002t0003g0305	16	357	0.0448	-9	c.642 others(26): Show c.642-2343_642-2335delATATATATA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13			chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36591164	TAAAATTA others(2): Show TAAAATTAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02809.hp1 HG03209.hp2 HG01361.hp1 HG02809.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0006g0301	3	357	0.0084	-9	c.17 others(20): Show c.1754_*1762delAAAATTAAG	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding		1317		chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36593773	CAGCTGGC others(2): Show CAGCTGGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01168.hp2 others(10): Show HG00639.hp1 HG00741.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG02148.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0001t0001 a0001c0001t0007 a0001c0003t0001	a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0085 others(10): Show a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0001g0297 a0001c0001t0007g0086 a0001c0003t0001g0102	13	357	0.0364	-9	c.43 others(20): Show c.4363_*4371delAGCTGGCCA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding		3926		chr17	TogoVar
GGT1_chr22_24598193_24633996	24610170	CCTCTTTG others(2): Show CCTCTTTGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01070.hp1 others(55): Show HG00099.hp1 HG00408.hp2 HG01070.hp1 HG01081.hp1 HG01496.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18951.hp1 NA18960.hp1 NA18964.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp1 NA19010.hp2 NA19062.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19083.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0018 a0001c0001t0026 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0016 a0002c0002t0019 a0002c0005t0012 a0002c0014t0012	a0001c0001t0001g0008 a0001c0001t0001g0166 a0001c0001t0001g0167 others(54): Show a0001c0001t0001g0008 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0247 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0316 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0334 a0001c0001t0002g0389 a0001c0001t0015g0037 a0001c0001t0018g0296 a0001c0001t0026g0242 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0286 a0002c0002t0002g0290 a0002c0002t0002g0294 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0304 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0331 a0002c0002t0002g0360 a0002c0002t0002g0380 a0002c0002t0002g0381 a0002c0002t0002g0390 a0002c0002t0002g0404 a0002c0002t0002g0419 a0002c0002t0004g0002 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0043 a0002c0002t0007g0021 a0002c0002t0007g0027 a0002c0002t0016g0332 a0002c0002t0019g0270 a0002c0005t0012g0289 a0002c0014t0012g0341	58	426	0.1362	-9	c.-28 others(24): Show c.-289-77_-289-69delCTTTGAGCT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT5_chr22_24214660_24250082	24228063	AAAACAAA others(2): Show AAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00639.hp2 others(35): Show HG00408.hp1 HG00597.hp1 HG00639.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01981.hp1 HG01981.hp2 HG02129.hp1 HG02165.hp2 HG02683.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18959.hp1 NA18971.hp1 NA18980.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA19001.hp2 NA19004.hp1 NA19007.hp1 NA19068.hp2 NA19077.hp2 NA19087.hp1 NA19091.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0001 a0002c0002t0002 a0002c0020t0001 a0002c0002t0001 a0002c0002t0002 a0002c0020t0001	a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0018 others(30): Show a0002c0002t0001g0005 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0045 a0002c0002t0001g0121 a0002c0002t0001g0288 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0314 a0002c0002t0001g0317 a0002c0002t0001g0323 a0002c0002t0001g0325 a0002c0002t0001g0329 a0002c0002t0001g0331 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0343 a0002c0002t0001g0356 a0002c0002t0002g0291 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0020t0001g0025	38	420	0.0905	-9	c.902 others(26): Show c.902-1305_902-1297delGTTTTGTTT	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	6/11			chr22	TogoVar
GGT6_chr17_4551927_4565577	4564693	CTTTCTTT others(2): Show CTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02132.hp2 HG02135.hp1 others(10): Show HG00423.hp2 HG02132.hp2 HG02135.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp2 HG02896.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 NA19003.hp1 NA19082.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0003 a0002c0005 others(2): Show a0001c0002 a0002c0003 a0002c0005 a0003c0004 a0004c0013	a0001c0002t0001 a0002c0003t0003 a0002c0005t0003 others(4): Show a0001c0002t0001 a0002c0003t0003 a0002c0005t0003 a0002c0005t0009 a0003c0004t0002 a0003c0004t0008 a0004c0013t0006	a0001c0002t0001g0008 a0002c0003t0003g0004 a0002c0005t0003g0007 others(4): Show a0001c0002t0001g0008 a0002c0003t0003g0004 a0002c0005t0003g0007 a0002c0005t0009g0054 a0003c0004t0002g0018 a0003c0004t0008g0012 a0004c0013t0006g0062	13	458	0.0284	-9	c.-41 others(20): Show c.-4181_-4173delAGAAAGAAA	GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding		4117		chr17	TogoVar
GGT7_chr20_34839720_34877856	34860637	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(80): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18944.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18972.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp1 NA18997.hp2 NA18998.hp2 NA19007.hp1 NA19012.hp2 NA19068.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0007 a0001c0009 others(2): Show a0001c0001 a0001c0007 a0001c0009 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0007t0003 a0001c0009t0009 a0003c0004t0003 a0004c0005t0003	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 others(49): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0013 a0001c0001t0002g0029 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0003g0002 a0001c0001t0003g0060 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0004g0015 a0001c0001t0004g0034 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0159 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0186 a0001c0001t0006g0008 a0001c0001t0009g0138 a0001c0001t0013g0031 a0001c0001t0016g0048 a0001c0007t0003g0160 a0001c0009t0009g0157 a0003c0004t0003g0033 a0003c0004t0003g0188 a0004c0005t0003g0027	83	354	0.2345	-9	c.676 others(24): Show c.676-325_676-317delAAAAAAAAA	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	4/14			chr20	TogoVar
GHDC_chr17_42184087_42199494	42187582	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01175.hp2 HG01243.hp2 others(38): Show HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01934.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03831.hp1 NA18522.hp1 NA18939.hp1 NA18964.hp2 NA18977.hp2 NA18981.hp2 NA19066.hp1 NA19081.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0006c0011t0002 a0001c0001t0001 a0001c0001t0002 a0006c0011t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0015 a0006c0011t0002g0036	41	374	0.1096	-9	c.21 others(20): Show c.2112_*2120delAAAAAAAAA	GHDC	ENSG00000167925.17	transcript	ENST00000587427.6	protein_coding		1504		chr17	TogoVar
GHR_chr5_42418439_42726878	42448573	CTATTATT others(2): Show CTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp2 others(27): Show HG00140.hp2 HG00280.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01258.hp2 HG01952.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02896.hp1 HG02922.hp1 HG03017.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA19043.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0006 others(2): Show a0001c0001 a0002c0002 a0003c0006 a0004c0004 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0028 a0002c0002t0001 a0002c0002t0008 a0003c0006t0009 a0004c0004t0017 a0005c0007t0017 a0005c0007t0024	a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0055 others(27): Show a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0086 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0193 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0005g0067 a0001c0001t0005g0183 a0001c0001t0014g0060 a0001c0001t0028g0108 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0059 a0002c0002t0001g0186 a0002c0002t0008g0030 a0003c0006t0009g0097 a0003c0006t0009g0204 a0003c0006t0009g0208 a0004c0004t0017g0053 a0005c0007t0017g0136 a0005c0007t0024g0075	30	210	0.1429	-9	c.-12 others(28): Show c.-12+24650_-12+24658delATTATTATT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576045	ATAATAAA others(2): Show ATAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03540.hp2 NA20905.hp2 HG02602.hp2 HG03540.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0004 a0001c0001 a0003c0006 a0004c0004	a0001c0001t0002 a0003c0006t0009 a0004c0004t0017 a0001c0001t0002 a0003c0006t0009 a0004c0004t0017	a0001c0001t0002g0055 a0003c0006t0009g0208 a0004c0004t0017g0053 a0001c0001t0002g0055 a0003c0006t0009g0208 a0004c0004t0017g0053	3	210	0.0143	-9	c.70+ others(26): Show c.70+10102_70+10110delTAATAAAAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9			chr5	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	ACCGCCGC others(2): Show ACCGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02132.hp1 NA19083.hp1 HG00639.hp2 HG02132.hp1 NA19083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0009 a0001c0003t0006 a0001c0003t0009	a0001c0003t0006g0011 a0001c0003t0006g0030 a0001c0003t0009g0219 a0001c0003t0006g0011 a0001c0003t0006g0030 a0001c0003t0009g0219	3	398	0.0075	-9	c.-13 others(20): Show c.-1310_-1302delCGGCGGCGG	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding		63		chr7	TogoVar
GIGYF2_chr2_232692331_232865605	232797981	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00597.hp2 others(49): Show HG00140.hp2 HG00323.hp2 HG00597.hp2 HG00609.hp1 HG01496.hp2 HG01978.hp2 HG01981.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02723.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18987.hp2 NA18991.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp2	a0003 a0007 a0011 a0003 a0007 a0011	a0003c0004 a0003c0007 a0003c0014 others(2): Show a0003c0004 a0003c0007 a0003c0014 a0007c0008 a0011c0017	a0003c0004t0001 a0003c0007t0001 a0003c0014t0001 others(2): Show a0003c0004t0001 a0003c0007t0001 a0003c0014t0001 a0007c0008t0001 a0011c0017t0001	a0003c0004t0001g0192 a0003c0004t0001g0245 a0003c0004t0001g0246 others(49): Show a0003c0004t0001g0192 a0003c0004t0001g0245 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0274 a0003c0004t0001g0275 a0003c0004t0001g0276 a0003c0004t0001g0280 a0003c0004t0001g0281 a0003c0004t0001g0282 a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0004t0001g0293 a0003c0004t0001g0304 a0003c0004t0001g0357 a0003c0007t0001g0277 a0003c0007t0001g0278 a0003c0007t0001g0279 a0003c0007t0001g0288 a0003c0014t0001g0263 a0007c0008t0001g0252 a0007c0008t0001g0255 a0011c0017t0001g0363	52	376	0.1383	-9	c.163 others(28): Show c.1639+1778_1639+1786delAAAAAAAAA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232802908	TTTTTTTT others(2): Show TTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp2 HG02572.hp1 others(6): Show HG00738.hp2 HG02055.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02896.hp1 HG02965.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 others(6): Show a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189	9	376	0.0239	-9	c.164 others(28): Show c.1640-3582_1640-3574delTTTTTTTTA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	14/28			chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232806835	AAACTCGA others(2): Show AAACTCGAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(33): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02559.hp1 HG02738.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18994.hp2 NA18995.hp2 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19070.hp2 NA20805.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0009	a0001c0005 a0001c0010 a0004c0011 others(2): Show a0001c0005 a0001c0010 a0004c0011 a0008c0024 a0009c0023	a0001c0005t0001 a0001c0005t0008 a0001c0005t0022 others(4): Show a0001c0005t0001 a0001c0005t0008 a0001c0005t0022 a0001c0010t0001 a0004c0011t0001 a0008c0024t0008 a0009c0023t0001	a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 others(33): Show a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 a0001c0005t0001g0199 a0001c0005t0001g0204 a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0213 a0001c0005t0001g0215 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0222 a0001c0005t0001g0223 a0001c0005t0001g0225 a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0228 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0303 a0001c0005t0008g0201 a0001c0005t0008g0202 a0001c0005t0008g0203 a0001c0005t0008g0205 a0001c0005t0008g0232 a0001c0005t0022g0229 a0001c0010t0001g0206 a0001c0010t0001g0214 a0004c0011t0001g0207 a0004c0011t0001g0224 a0008c0024t0008g0200 a0009c0023t0001g0221	36	376	0.0957	-9	c.180 others(26): Show c.1806+182_1806+190delTCGAATAAC	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232841461	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(163): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0007 a0008 a0009 a0011 a0012 a0014	a0001c0002 a0001c0003 a0001c0005 others(11): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0003c0004 a0003c0007 a0003c0014 a0004c0011 a0007c0008 a0008c0024 a0009c0023 a0011c0017 a0012c0015 a0014c0021	a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 others(20): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0025 a0001c0003t0003 a0001c0003t0006 a0001c0003t0027 a0001c0005t0001 a0001c0005t0008 a0001c0005t0022 a0001c0010t0001 a0003c0004t0001 a0003c0007t0001 a0003c0014t0001 a0004c0011t0001 a0007c0008t0001 a0008c0024t0008 a0009c0023t0001 a0011c0017t0001 a0012c0015t0003 a0014c0021t0003	a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 others(163): Show a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0003g0309 a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0014g0178 a0001c0002t0014g0179 a0001c0002t0017g0175 a0001c0002t0017g0177 a0001c0002t0025g0242 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0159 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0006g0130 a0001c0003t0006g0142 a0001c0003t0006g0146 a0001c0003t0006g0160 a0001c0003t0006g0163 a0001c0003t0006g0167 a0001c0003t0006g0168 a0001c0003t0027g0172 a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 a0001c0005t0001g0198 a0001c0005t0001g0199 a0001c0005t0001g0204 a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0215 a0001c0005t0001g0216 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0222 a0001c0005t0001g0223 a0001c0005t0001g0225 a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0228 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0303 a0001c0005t0008g0201 a0001c0005t0008g0202 a0001c0005t0008g0203 a0001c0005t0008g0205 a0001c0005t0008g0232 a0001c0005t0022g0229 a0001c0010t0001g0206 a0001c0010t0001g0214 a0003c0004t0001g0192 a0003c0004t0001g0245 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0274 a0003c0004t0001g0275 a0003c0004t0001g0276 a0003c0004t0001g0280 a0003c0004t0001g0281 a0003c0004t0001g0282 a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0004t0001g0293 a0003c0004t0001g0304 a0003c0004t0001g0357 a0003c0007t0001g0277 a0003c0007t0001g0278 a0003c0007t0001g0279 a0003c0007t0001g0288 a0003c0014t0001g0263 a0004c0011t0001g0207 a0004c0011t0001g0224 a0007c0008t0001g0252 a0007c0008t0001g0255 a0008c0024t0008g0200 a0009c0023t0001g0221 a0011c0017t0001g0363 a0012c0015t0003g0145 a0014c0021t0003g0158	166	376	0.4415	-9	c.288 others(28): Show c.2889+1505_2889+1513delTTTTTTTTT	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIMAP2_chr7_150680706_150698641	150687146	GTGTGTGT others(2): Show GTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18998.hp1 NA19084.hp2 NA18993.hp1 NA18998.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0137 a0001c0002t0001g0056 a0001c0002t0001g0137	3	456	0.0066	-9	c.28+ others(20): Show c.28+61_28+69delGTGTGTGTT	GIMAP2	ENSG00000106560.11	transcript	ENST00000223293.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
GINS1_chr20_25402673_25453563	25423452	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01975.hp1 HG02922.hp1 others(5): Show HG01515.hp1 HG01975.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 NA19063.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0063 a0001c0001t0005g0158 a0001c0001t0006g0019 others(5): Show a0001c0001t0002g0063 a0001c0001t0005g0158 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0008g0334 a0001c0001t0008g0335	8	360	0.0222	-9	c.331 others(26): Show c.331-1733_331-1725delTTTTTTTTT	GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
GINS1_chr20_25402673_25453563	25428969	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01361.hp2 HG02145.hp2 others(10): Show HG01167.hp1 HG01361.hp2 HG02145.hp2 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03471.hp1 HG03492.hp1 HG04115.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020	a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 others(10): Show a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0004g0008 a0001c0001t0004g0157 a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0005g0164 a0001c0001t0016g0008 a0001c0001t0017g0163 a0001c0001t0020g0156	13	360	0.0361	-9	c.447 others(26): Show c.447+3671_447+3679delTTTTTTTTT	GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
GINS4_chr8_41524261_41550030	41525943	CAAAAAAA others(2): Show CAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02896.hp1 others(4): Show HG02572.hp2 HG02630.hp2 HG02896.hp1 HG03041.hp2 HG03225.hp2 NA18946.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0014 a0001c0001t0002g0066 a0001c0001t0004g0064 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0066 a0001c0001t0004g0064 a0001c0001t0004g0065	7	426	0.0164	-9	c.-34 others(20): Show c.-3472_-3464delAAAAAAAAA	GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding		3317		chr8	TogoVar
GINS4_chr8_41524261_41550030	41546849	ATTTTTTT others(2): Show ATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02055.hp1 HG02074.hp1 others(26): Show HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02132.hp1 HG02165.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03490.hp1 HG03669.hp1 HG03834.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18980.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0021	a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 others(19): Show a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0061 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0129 a0001c0001t0004g0173 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0008g0025 a0001c0001t0008g0133 a0001c0001t0009g0037 a0001c0001t0009g0089 a0001c0001t0017g0155 a0001c0001t0017g0157 a0001c0001t0021g0037	29	426	0.0681	-9	c.47 others(20): Show c.4763_*4771delTTTTTTTTT	GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding		1820		chr8	TogoVar
GIPC1_chr19_14472762_14501127	14483748	CAATAATA others(2): Show CAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01168.hp1 others(24): Show HG00544.hp1 HG00735.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02056.hp1 HG02109.hp1 HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp2 HG03486.hp2 NA18963.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18991.hp1 NA19030.hp1 NA19065.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0021 others(12): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0021 a0001c0001t0036 a0001c0001t0056 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0012 a0001c0003t0017 a0001c0003t0026 a0001c0003t0051 a0002c0004t0002	a0001c0001t0002g0100 a0001c0001t0007g0055 a0001c0001t0007g0056 others(21): Show a0001c0001t0002g0100 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0059 a0001c0001t0021g0384 a0001c0001t0036g0102 a0001c0001t0056g0376 a0001c0002t0001g0117 a0001c0002t0005g0010 a0001c0002t0005g0012 a0001c0002t0005g0052 a0001c0002t0005g0057 a0001c0002t0005g0063 a0001c0002t0005g0064 a0001c0003t0001g0018 a0001c0003t0003g0245 a0001c0003t0006g0320 a0001c0003t0012g0357 a0001c0003t0017g0078 a0001c0003t0017g0079 a0001c0003t0017g0110 a0001c0003t0026g0353 a0001c0003t0051g0354 a0002c0004t0002g0091	27	444	0.0608	-9	c.-30 others(24): Show c.-30-751_-30-743delATTATTATT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPC1_chr19_14472762_14501127	14496067	CGCCGCCG others(2): Show CGCCGCCGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02572.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02572.hp1 HG03139.hp1 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0345 a0001c0002t0009g0346 a0001c0002t0009g0347 others(3): Show a0001c0002t0009g0345 a0001c0002t0009g0346 a0001c0002t0009g0347 a0001c0002t0009g0348 a0001c0002t0009g0349 a0001c0002t0009g0350	6	444	0.0135	-9	c.-21 others(18): Show c.-214_-206delAGCGGCGGC	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9	13092		chr19	TogoVar
GIPC2_chr1_78040966_78143444	78100940	ATACACAC others(2): Show ATACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp1 others(71): Show HG00099.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01175.hp2 HG01256.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02280.hp2 HG02723.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03516.hp1 HG03710.hp2 HG03831.hp2 NA18939.hp2 NA18941.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp1 NA19003.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19058.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0017 a0002c0002t0031 a0002c0002t0032 a0007c0009t0001	a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 others(69): Show a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0150 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0122 a0002c0002t0001g0127 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0285 a0002c0002t0001g0302 a0002c0002t0017g0156 a0002c0002t0031g0183 a0002c0002t0032g0173 a0007c0009t0001g0177	74	332	0.2229	-9	c.607 others(26): Show c.607+5809_607+5817delTACACACAC	GIPC2	ENSG00000137960.6	transcript	ENST00000370759.4	protein_coding	3/5			chr1	TogoVar
GIPC2_chr1_78040966_78143444	78142354	ATGTGTGT others(2): Show ATGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01261.hp1 HG02056.hp1 others(13): Show HG01192.hp2 HG01261.hp1 HG02056.hp1 HG02976.hp1 HG03486.hp2 HG03654.hp2 HG03704.hp1 NA18939.hp1 NA18966.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18992.hp2 NA19078.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0003c0003 a0003c0005	a0001c0001t0002 a0001c0004t0007 a0001c0006t0009 others(5): Show a0001c0001t0002 a0001c0004t0007 a0001c0006t0009 a0002c0002t0001 a0002c0002t0011 a0003c0003t0002 a0003c0003t0019 a0003c0005t0006	a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 others(13): Show a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0004t0007g0117 a0001c0006t0009g0241 a0001c0006t0009g0242 a0002c0002t0001g0079 a0002c0002t0011g0140 a0002c0002t0011g0260 a0002c0002t0011g0265 a0003c0003t0002g0212 a0003c0003t0002g0213 a0003c0003t0002g0217 a0003c0003t0002g0225 a0003c0003t0019g0223 a0003c0005t0006g0215	16	332	0.0482	-9	c.66 others(20): Show c.6612_*6620delTGTGTGTGT	GIPC2	ENSG00000137960.6	transcript	ENST00000370759.4	protein_coding		3911		chr1	TogoVar
GIT2_chr12_109924804_110001368	109978076	GTTTTTTT others(2): Show GTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp2 HG02280.hp1 others(28): Show HG01167.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG04184.hp1 NA18906.hp2 NA18948.hp2 NA18952.hp1 NA18974.hp1 NA18994.hp2 NA19002.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0008	a0001c0001 a0005c0010 a0007c0014 others(1): Show a0001c0001 a0005c0010 a0007c0014 a0008c0009	a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 others(5): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0024 a0005c0010t0003 a0007c0014t0003 a0008c0009t0015	a0001c0001t0003g0071 a0001c0001t0003g0182 a0001c0001t0003g0183 others(28): Show a0001c0001t0003g0071 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0011g0193 a0001c0001t0011g0200 a0001c0001t0013g0068 a0001c0001t0013g0070 a0001c0001t0016g0186 a0001c0001t0024g0066 a0005c0010t0003g0074 a0007c0014t0003g0067 a0008c0009t0015g0057	31	242	0.1281	-9	c.718 others(26): Show c.718+2867_718+2875delAAAAAAAAA	GIT2	ENSG00000139436.22	transcript	ENST00000355312.8	protein_coding	7/19			chr12	TogoVar
GJA10_chr6_89889469_89901120	89898201	TTTCCTTT others(2): Show TTTCCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01099.hp2 others(11): Show HG00597.hp2 HG00609.hp2 HG01099.hp2 HG01975.hp2 HG02015.hp2 HG02074.hp1 HG02155.hp2 HG02257.hp2 NA18939.hp1 NA18940.hp2 NA18966.hp1 NA19054.hp2 NA19064.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	14	386	0.0363	-9	c.21 others(20): Show c.2102_*2110delTTCCTTTTC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		2082		chr6	TogoVar
GJA1_chr6_121430646_121454727	121452735	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(14): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013	a0001c0001t0004g0028 a0001c0001t0004g0040 a0001c0001t0004g0051 others(10): Show a0001c0001t0004g0028 a0001c0001t0004g0040 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0110 a0001c0001t0004g0121 a0001c0001t0004g0156 a0001c0001t0012g0077 a0001c0001t0013g0017	17	416	0.0409	-9	c.47 others(20): Show c.4740_*4748delAAAAAAAAA	GJA1	ENSG00000152661.9	transcript	ENST00000282561.4	protein_coding		3009		chr6	TogoVar
GJA5_chr1_147751199_147765602	147764823	CAAAAAAA others(2): Show CAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02717.hp2 others(7): Show HG02109.hp2 HG02559.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0002 a0001c0001t0004g0013 a0001c0001t0008g0009 a0001c0001t0002g0002 a0001c0001t0004g0013 a0001c0001t0008g0009	10	450	0.0222	-9	c.-43 others(20): Show c.-4367_-4359delTTTTTTTTT	GJA5	ENSG00000265107.3	transcript	ENST00000579774.3	protein_coding		4222		chr1	TogoVar
GJA9_chr1_38869069_38886587	38880413	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00621.hp1 others(27): Show HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00733.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01981.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02559.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03669.hp1 HG04115.hp1 HG06807.hp2 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0003t0004 a0001c0003t0012 a0001c0004t0002 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0003c0006t0005	a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0004g0088 others(8): Show a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0004g0088 a0001c0001t0007g0050 a0001c0003t0004g0089 a0001c0003t0012g0090 a0001c0004t0002g0053 a0001c0004t0004g0052 a0001c0005t0001g0010 a0001c0005t0002g0029 a0003c0006t0005g0012	30	444	0.0676	-9	c.-96 others(26): Show c.-96+1010_-96+1018delATTATTATT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding	1/1			chr1	TogoVar
GJB1_chrX_71218224_71230516	71219150	CTTATTAT others(2): Show CTTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG00733.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	4	328	0.0122	-9	c.-42 others(20): Show c.-4201_-4193delTTATTATTA	GJB1	ENSG00000169562.13	transcript	ENST00000361726.7	protein_coding		4073		chrX	TogoVar
GJB6_chr13_20216962_20237319	20229315	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01106.hp2 others(6): Show HG00099.hp2 HG00642.hp1 HG01106.hp2 HG01884.hp1 HG02451.hp1 HG02615.hp2 HG03209.hp1 HG03453.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0276 others(6): Show a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0276 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0014g0054	9	460	0.0196	-9	c.-16 others(24): Show c.-16+256_-16+264delAAAAAAAAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding	4/4			chr13	TogoVar
GJC1_chr17_44793448_44835287	44821697	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01099.hp1 others(4): Show HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01975.hp1 HG02273.hp1 HG03942.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 a0001c0001t0033	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(4): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0289 a0001c0001t0004g0340 a0001c0001t0031g0316 a0001c0001t0033g0290	7	380	0.0184	-9	c.-97 others(26): Show c.-97+8356_-97+8364delTTTTTTTTT	GJC1	ENSG00000182963.11	transcript	ENST00000592524.6	protein_coding	1/2			chr17	TogoVar
GJD2_chr15_34746032_34759998	34746234	AAAAAAAT others(2): Show AAAAAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02273.hp1 HG03471.hp1 others(3): Show HG00673.hp1 HG02273.hp1 HG03471.hp1 NA18984.hp2 NA19057.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 a0001c0001t0056 a0001c0002t0034 a0001c0002t0050	a0001c0001t0002g0044 a0001c0001t0008g0008 a0001c0001t0017g0017 others(3): Show a0001c0001t0002g0044 a0001c0001t0008g0008 a0001c0001t0017g0017 a0001c0001t0056g0075 a0001c0002t0034g0036 a0001c0002t0050g0061	6	446	0.0135	-9	c.62 others(20): Show c.6235_*6243delATATTTTTT	GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding		4797		chr15	TogoVar
GJD2_chr15_34746032_34759998	34746238	AAATATAT others(2): Show AAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01928.hp1 others(19): Show HG00642.hp2 HG00735.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02300.hp2 HG03239.hp1 NA18945.hp2 NA18946.hp1 NA18954.hp1 NA18967.hp1 NA18971.hp1 NA18979.hp2 NA18986.hp1 NA19055.hp1 NA19070.hp1 NA19082.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0029 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0029 a0001c0001t0002g0043 a0001c0002t0004g0004	22	446	0.0493	-9	c.62 others(20): Show c.6231_*6239delATATATATT	GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding		4793		chr15	TogoVar
GJD2_chr15_34746032_34759998	34746240	ATATATAT others(2): Show ATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01123.hp1 HG01258.hp1 others(6): Show HG00438.hp2 HG01123.hp1 HG01258.hp1 HG02165.hp1 HG02647.hp1 HG02717.hp2 HG03927.hp1 HG06807.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0002t0004 a0001c0002t0005 others(6): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0027 a0001c0002t0055 a0001c0003t0007 a0001c0003t0015 a0001c0009t0039	a0001c0001t0002g0002 a0001c0002t0004g0004 a0001c0002t0005g0005 others(6): Show a0001c0001t0002g0002 a0001c0002t0004g0004 a0001c0002t0005g0005 a0001c0002t0011g0011 a0001c0002t0027g0026 a0001c0002t0055g0076 a0001c0003t0007g0007 a0001c0003t0015g0015 a0001c0009t0039g0046	9	446	0.0202	-9	c.62 others(20): Show c.6229_*6237delATATATATA	GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding		4791		chr15	TogoVar
GLA_chrX_101392803_101412925	101411404	ATTTTTTT others(2): Show ATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	-9	c.-35 others(20): Show c.-3510_-3502delAAAAAAAAA	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding		3480		chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308547	CCATCACC others(2): Show CCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 NA18970.hp1 HG01884.hp1 HG02717.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0373 a0001c0001t0002g0375 a0001c0002t0002g0345 a0001c0001t0002g0373 a0001c0001t0002g0375 a0001c0002t0002g0345	3	422	0.0071	-9	c.962 others(26): Show c.962-1076_962-1068delTCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308550	TCACCATC others(2): Show TCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp2 HG01258.hp2 others(5): Show HG01106.hp2 HG01255.hp2 HG01258.hp2 HG01943.hp1 HG02080.hp1 HG02300.hp2 NA18943.hp2 NA18984.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0016 a0002c0004t0001g0038 a0002c0004t0001g0087 others(4): Show a0002c0004t0001g0016 a0002c0004t0001g0038 a0002c0004t0001g0087 a0002c0004t0001g0089 a0002c0004t0001g0090 a0002c0004t0001g0091 a0002c0004t0001g0092	8	422	0.0190	-9	c.962 others(26): Show c.962-1070_962-1062delTCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1_chr3_32991617_33102146	33018285	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02486.hp1 others(10): Show HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02976.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0002t0002	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0176 a0001c0001t0001g0218 a0001c0001t0002g0227 a0001c0005t0001g0233 a0001c0005t0001g0234 a0001c0005t0001g0235 a0001c0005t0001g0239 a0002c0002t0002g0276	13	394	0.0330	-9	c.134 others(26): Show c.1347+154_1347+162delTTTTTTTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	13/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33031633	AAAAAAAA others(2): Show AAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp2 NA18944.hp1 others(9): Show HG00597.hp2 HG02027.hp2 NA18944.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp2 NA19057.hp2 NA19060.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0003 a0005c0009 a0002c0002 a0002c0003 a0005c0009	a0002c0002t0001 a0002c0003t0001 a0005c0009t0001 a0002c0002t0001 a0002c0003t0001 a0005c0009t0001	a0002c0002t0001g0323 a0002c0003t0001g0259 a0002c0003t0001g0293 others(9): Show a0002c0002t0001g0323 a0002c0003t0001g0259 a0002c0003t0001g0293 a0002c0003t0001g0296 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0310 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0321 a0005c0009t0001g0008	12	394	0.0305	-9	c.106 others(28): Show c.1069-7317_1069-7309delATTTTTTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15			chr3	TogoVar

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