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
BRF1_chr14_105204286_105306001	105276872	CGAGAGGC others(311): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCC ACAGTGAGAAGGAGCCGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAG GCCACAGTGAGAAGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG03834.hp2 HG00323.hp2 HG01109.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058	3	72	0.0417	-318	c.266 others(17): Show c.266-4296_266-3979del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277137	CGAGAGGG others(311): Show CGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTG AGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACA GTGAGAAGGAGCTGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCC ACAGTGAGAAGGAGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAG GCCACAGTGAGAAGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG02273.hp2 others(2): Show HG00323.hp1 HG00639.hp1 HG02273.hp2 HG02717.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0002g0059 a0001c0001t0012g0013	5	72	0.0694	-318	c.266 others(17): Show c.266-4561_266-4244del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
CACNG7_chr19_53904278_53948950	53935588	ACTGGGAT others(311): Show ACTGGGATTATAGGCGTGAGCCACCGCCCCCACCCTCCAATACTGTCTTT TTTTTTTTTTTTTTTTTTTTGAGTTGGAGTTTTGCTCTTGTACCCAGGCT GGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTTCTGCCTCCTGGGT TCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAC CCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTC TCCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCT GCCTTGGCCTCCCAAAGTG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	364	0.0028	-318	c.425 others(17): Show c.425-5863_425-5546del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC113_chr16_58244936_58288836	58256998	ATGCATAT others(311): Show ATGCATATATGAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00544.hp2 others(90): Show HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01255.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02293.hp2 HG02300.hp2 HG02647.hp1 HG02896.hp2 HG03017.hp2 HG03486.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18988.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0004t0002 a0002c0002t0002 a0004c0005t0004	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0019 others(76): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0005g0021 a0001c0001t0014g0280 a0001c0001t0030g0297 a0001c0001t0031g0001 a0001c0001t0032g0003 a0001c0004t0002g0001 a0001c0004t0002g0308 a0002c0002t0002g0001 a0002c0002t0002g0018 a0002c0002t0002g0274 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0307 a0002c0002t0002g0311 a0002c0002t0002g0314 a0002c0002t0002g0332 a0002c0002t0002g0333 a0004c0005t0004g0319	93	378	0.2460	-318	c.391 others(17): Show c.391-1351_391-1034del	CCDC113	ENSG00000103021.10	transcript	ENST00000219299.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC68_chr18_54896509_54964461	54950889	TCAGATGT others(311): Show TCAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0105 a0001c0001t0028g0105	1	326	0.0031	-318	c.-10 others(19): Show c.-102-5730_-102-5413del	CCDC68	ENSG00000166510.14	transcript	ENST00000591504.6	protein_coding	1/11			chr18	TogoVar
CDC42BPA_chr1_226984865_227323492	227294563	CAAAAAGA others(311): Show CAAAAAGAGGTTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(131): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19002.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19076.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0009 a0011 a0015	a0001c0001 a0001c0005 a0001c0006 others(9): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0002c0002 a0002c0029 a0002c0030 a0007c0013 a0008c0014 a0009c0018 a0011c0028 a0015c0031	a0001c0001t0015 a0001c0005t0004 a0001c0005t0060 others(22): Show a0001c0001t0015 a0001c0005t0004 a0001c0005t0060 a0001c0005t0061 a0001c0006t0008 a0001c0006t0012 a0001c0006t0027 a0001c0006t0064 a0001c0008t0009 a0001c0008t0018 a0001c0008t0042 a0002c0002t0001 a0002c0002t0010 a0002c0002t0021 a0002c0002t0058 a0002c0002t0059 a0002c0002t0062 a0002c0029t0004 a0002c0030t0010 a0007c0013t0026 a0008c0014t0012 a0008c0014t0063 a0009c0018t0034 a0011c0028t0012 a0015c0031t0004	a0001c0001t0015g0210 a0001c0001t0015g0211 a0001c0005t0004g0239 others(131): Show a0001c0001t0015g0210 a0001c0001t0015g0211 a0001c0005t0004g0239 a0001c0005t0004g0247 a0001c0005t0004g0249 a0001c0005t0004g0250 a0001c0005t0004g0251 a0001c0005t0004g0252 a0001c0005t0004g0253 a0001c0005t0004g0276 a0001c0005t0004g0277 a0001c0005t0004g0278 a0001c0005t0004g0279 a0001c0005t0004g0280 a0001c0005t0004g0281 a0001c0005t0004g0283 a0001c0005t0004g0284 a0001c0005t0004g0289 a0001c0005t0004g0292 a0001c0005t0004g0297 a0001c0005t0004g0305 a0001c0005t0004g0306 a0001c0005t0004g0308 a0001c0005t0004g0309 a0001c0005t0004g0310 a0001c0005t0004g0316 a0001c0005t0060g0307 a0001c0005t0061g0314 a0001c0006t0008g0321 a0001c0006t0008g0322 a0001c0006t0008g0333 a0001c0006t0008g0334 a0001c0006t0008g0335 a0001c0006t0008g0336 a0001c0006t0008g0337 a0001c0006t0008g0338 a0001c0006t0008g0339 a0001c0006t0008g0340 a0001c0006t0008g0341 a0001c0006t0008g0342 a0001c0006t0008g0343 a0001c0006t0008g0344 a0001c0006t0008g0345 a0001c0006t0012g0323 a0001c0006t0012g0325 a0001c0006t0012g0326 a0001c0006t0012g0327 a0001c0006t0012g0329 a0001c0006t0012g0330 a0001c0006t0027g0346 a0001c0006t0027g0347 a0001c0006t0027g0348 a0001c0006t0064g0349 a0001c0008t0009g0105 a0001c0008t0009g0106 a0001c0008t0009g0107 a0001c0008t0009g0108 a0001c0008t0009g0109 a0001c0008t0009g0110 a0001c0008t0009g0111 a0001c0008t0018g0112 a0001c0008t0018g0113 a0001c0008t0018g0114 a0001c0008t0042g0046 a0002c0002t0001g0231 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0245 a0002c0002t0001g0248 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0010g0242 a0002c0002t0010g0244 a0002c0002t0010g0246 a0002c0002t0010g0258 a0002c0002t0010g0259 a0002c0002t0010g0261 a0002c0002t0010g0262 a0002c0002t0010g0266 a0002c0002t0010g0272 a0002c0002t0010g0304 a0002c0002t0021g0230 a0002c0002t0021g0232 a0002c0002t0021g0233 a0002c0002t0021g0234 a0002c0002t0058g0237 a0002c0002t0059g0229 a0002c0002t0062g0320 a0002c0029t0004g0267 a0002c0030t0010g0243 a0007c0013t0026g0317 a0007c0013t0026g0318 a0007c0013t0026g0319 a0008c0014t0012g0324 a0008c0014t0012g0332 a0008c0014t0063g0331 a0009c0018t0034g0235 a0009c0018t0034g0236 a0011c0028t0012g0328 a0015c0031t0004g0282	134	352	0.3807	-318	c.178 others(19): Show c.178+22124_178+22441del	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDH12_chr5_21745673_22858344	22796501	TCAGATTT others(311): Show TCAGATTTTTTATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01358.hp1 others(22): Show HG00558.hp2 HG00639.hp1 HG01358.hp1 HG02258.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19002.hp1 NA19002.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0006 a0005c0010 a0006c0009 a0008c0014 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0011 a0001c0002t0015 a0001c0002t0024 a0001c0002t0025 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0003 a0002c0004t0021 a0002c0006t0004 a0005c0010t0001 a0006c0009t0001 a0008c0014t0026 a0009c0007t0028	a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0002g0028 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0002g0028 a0001c0001t0008g0044 a0001c0001t0019g0014 a0001c0002t0003g0052 a0001c0002t0004g0002 a0001c0002t0004g0008 a0001c0002t0004g0040 a0001c0002t0006g0030 a0001c0002t0011g0009 a0001c0002t0015g0032 a0001c0002t0024g0007 a0001c0002t0025g0019 a0002c0003t0001g0005 a0002c0003t0001g0053 a0002c0003t0002g0015 a0002c0003t0005g0060 a0002c0004t0003g0041 a0002c0004t0021g0013 a0002c0006t0004g0018 a0005c0010t0001g0004 a0006c0009t0001g0006 a0008c0014t0026g0031 a0009c0007t0028g0059	25	60	0.4167	-318	c.-52 others(21): Show c.-523+56239_-523+56556del	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14			chr5	TogoVar
CELF4_chr18_37238040_37570798	37338136	GCCACCAT others(311): Show GCCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCAT TGTCACCACTATCATTGTCACCACTACTGTCACTGCCACCACCACCACTG TCACTGCCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGAC ACCATTGTCACCACTATCATTGTCACCACTACTGTCACTGCCACCACCAC CACTGTCGCTGCCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCA CTGACACCATTGTCACCACTATCATTGTCACCATTATCAGCACCTCTGTC ACTGTCACCACTGTCACTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02055.hp2 others(13): Show HG01243.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0029	a0001c0001t0001g0126 a0001c0001t0007g0127 a0001c0001t0008g0112 others(13): Show a0001c0001t0001g0126 a0001c0001t0007g0127 a0001c0001t0008g0112 a0001c0001t0008g0125 a0001c0001t0008g0136 a0001c0001t0014g0035 a0001c0001t0018g0030 a0001c0001t0025g0129 a0001c0001t0025g0162 a0001c0001t0027g0048 a0001c0001t0030g0011 a0001c0002t0008g0119 a0001c0002t0010g0060 a0001c0002t0010g0138 a0001c0002t0012g0047 a0001c0002t0029g0031	16	184	0.0870	-318	c.370 others(19): Show c.370-16573_370-16256del	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CPB1_chr3_148822811_148865187	148849005	TAGACCTC others(311): Show TAGACCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCGCTTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCACCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(436): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0008 a0001c0011 others(8): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002 a0002c0004 a0003c0003 a0004c0010 a0005c0009 a0006c0005 a0007c0007 a0008c0006	a0001c0001t0001 a0001c0008t0001 a0001c0011t0001 others(8): Show a0001c0001t0001 a0001c0008t0001 a0001c0011t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0010t0001 a0005c0009t0001 a0006c0005t0001 a0007c0007t0001 a0008c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(393): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0376 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0387 a0001c0001t0001g0396 a0001c0001t0001g0398 a0001c0001t0001g0400 a0001c0001t0001g0401 a0001c0001t0001g0402 a0001c0001t0001g0403 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0407 a0001c0001t0001g0410 a0001c0001t0001g0411 a0001c0001t0001g0412 a0001c0008t0001g0285 a0001c0011t0001g0397 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0166 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0204 a0002c0002t0001g0210 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0277 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0371 a0002c0002t0001g0374 a0002c0002t0001g0375 a0002c0002t0001g0377 a0002c0002t0001g0378 a0002c0002t0001g0385 a0002c0002t0001g0386 a0002c0002t0001g0389 a0002c0002t0001g0390 a0002c0002t0001g0391 a0002c0002t0001g0393 a0002c0002t0001g0394 a0002c0002t0001g0395 a0002c0002t0001g0399 a0002c0002t0001g0404 a0002c0002t0001g0408 a0002c0004t0001g0388 a0002c0004t0001g0392 a0003c0003t0001g0038 a0003c0003t0001g0047 a0003c0003t0001g0156 a0003c0003t0001g0207 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0291 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0306 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0345 a0004c0010t0001g0059 a0005c0009t0001g0328 a0006c0005t0001g0092 a0007c0007t0001g0409 a0008c0006t0001g0105	439	456	0.9627	-318	c.981 others(17): Show c.981+3390_981+3707del	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPSF6_chr12_69234569_69279358	69236186	TTATATAT others(311): Show TTATATATTAAAATATATATAGCATATATATTATATATTAAAATATATAT AGCATATATATTATATATTAAAATATATGTAGCATATATATTATATATTA AAATATATGTAGCATATATATTATATATTAAAATATATGTAGCATATATA TTATATATTAAAATATATATAGCATATATATTATATATTAAAATATATAT AGCATATATATTATATATTAAAATATATATAGCATATATATTATATATTA AAATATATATAGCATATATATTATATATTAAAATATATATAGCATATATA TTAAAATATATATAGCATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0242 a0001c0001t0064g0242	1	392	0.0026	-318	c.-34 others(11): Show c.-3460_-3143del	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3382		chr12	TogoVar
DCLK1_chr13_35763652_36136382	35864267	TAAAAAGT others(311): Show TAAAAAGTTGGCTATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp2 others(71): Show HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01358.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18963.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA19004.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0016 a0001c0018 a0001c0020 a0002c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0019 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0004t0003 a0001c0004t0005 a0001c0004t0007 a0001c0004t0009 a0001c0004t0011 a0001c0004t0015 a0001c0005t0001 a0001c0005t0002 a0001c0005t0008 a0001c0005t0047 a0001c0005t0051 a0001c0006t0003 a0001c0006t0004 a0001c0006t0009 a0001c0006t0052 a0001c0007t0005 a0001c0007t0034 a0001c0008t0008 a0001c0009t0003 a0001c0009t0005 a0001c0016t0012 a0001c0018t0014 a0001c0020t0026 a0002c0019t0002	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0042 others(71): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0002g0100 a0001c0001t0005g0214 a0001c0001t0006g0095 a0001c0001t0008g0189 a0001c0001t0008g0227 a0001c0001t0008g0228 a0001c0001t0012g0103 a0001c0001t0013g0182 a0001c0001t0018g0183 a0001c0001t0021g0057 a0001c0001t0021g0119 a0001c0001t0022g0096 a0001c0001t0027g0034 a0001c0001t0029g0030 a0001c0001t0038g0044 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0003g0055 a0001c0002t0004g0014 a0001c0002t0006g0085 a0001c0002t0006g0120 a0001c0002t0006g0130 a0001c0002t0009g0058 a0001c0002t0009g0138 a0001c0002t0015g0181 a0001c0002t0016g0201 a0001c0002t0017g0086 a0001c0002t0019g0050 a0001c0002t0019g0083 a0001c0002t0032g0118 a0001c0003t0001g0003 a0001c0003t0001g0010 a0001c0003t0001g0019 a0001c0003t0001g0022 a0001c0003t0001g0025 a0001c0003t0001g0037 a0001c0003t0001g0169 a0001c0003t0002g0065 a0001c0003t0004g0094 a0001c0003t0007g0202 a0001c0004t0003g0153 a0001c0004t0005g0210 a0001c0004t0007g0222 a0001c0004t0009g0159 a0001c0004t0009g0176 a0001c0004t0009g0177 a0001c0004t0011g0172 a0001c0004t0015g0175 a0001c0005t0001g0148 a0001c0005t0002g0072 a0001c0005t0002g0156 a0001c0005t0002g0157 a0001c0005t0008g0207 a0001c0005t0047g0213 a0001c0005t0051g0212 a0001c0006t0003g0070 a0001c0006t0004g0069 a0001c0006t0009g0173 a0001c0006t0052g0186 a0001c0007t0005g0195 a0001c0007t0034g0018 a0001c0008t0008g0216 a0001c0009t0003g0166 a0001c0009t0005g0221 a0001c0016t0012g0020 a0001c0018t0014g0123 a0001c0020t0026g0091 a0002c0019t0002g0167	74	230	0.3217	-318	c.940 others(17): Show c.940+6639_940+6956del	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	5/16			chr13	TogoVar
DDX51_chr12_132131594_132149319	132134756	CCCCGAGT others(311): Show CCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGC TACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTC CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02055.hp2 HG03540.hp2 HG01934.hp2 HG02055.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	3	334	0.0090	-318	c.41 others(11): Show c.4198_*4515del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1837		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149001	ACTCCTAC others(311): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG04228.hp2 HG02683.hp2 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	2	334	0.0060	-318	c.-50 others(11): Show c.-5023_-4706del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4683		chr12	TogoVar
DEUP1_chr11_93325742_93443470	93369634	TAAAGAAT others(311): Show TAAAGAATGGATTTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACGGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(302): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0012 a0001c0014 others(11): Show a0001c0001 a0001c0012 a0001c0014 a0001c0017 a0002c0002 a0004c0004 a0005c0016 a0006c0006 a0007c0011 a0009c0009 a0010c0008 a0011c0007 a0012c0013 a0013c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0012t0012 a0001c0014t0006 a0001c0017t0014 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0027 a0004c0004t0013 a0005c0016t0007 a0006c0006t0008 a0007c0011t0001 a0009c0009t0003 a0010c0008t0006 a0011c0007t0024 a0012c0013t0004 a0013c0005t0012	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0046 others(280): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0042 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0329 a0001c0001t0003g0050 a0001c0001t0003g0055 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0040 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0124 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0167 a0001c0001t0004g0203 a0001c0001t0004g0207 a0001c0001t0005g0021 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0048 a0001c0001t0005g0051 a0001c0001t0005g0056 a0001c0001t0005g0063 a0001c0001t0005g0065 a0001c0001t0005g0072 a0001c0001t0005g0093 a0001c0001t0005g0100 a0001c0001t0005g0150 a0001c0001t0006g0137 a0001c0001t0006g0159 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0008g0017 a0001c0001t0008g0282 a0001c0001t0008g0283 a0001c0001t0008g0284 a0001c0001t0008g0303 a0001c0001t0008g0306 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0008g0312 a0001c0001t0008g0314 a0001c0001t0008g0315 a0001c0001t0008g0316 a0001c0001t0008g0317 a0001c0001t0008g0318 a0001c0001t0008g0319 a0001c0001t0009g0016 a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0290 a0001c0001t0009g0291 a0001c0001t0009g0292 a0001c0001t0009g0293 a0001c0001t0009g0294 a0001c0001t0009g0295 a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298 a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0001t0009g0302 a0001c0001t0010g0029 a0001c0001t0010g0032 a0001c0001t0010g0078 a0001c0001t0010g0084 a0001c0001t0010g0157 a0001c0001t0010g0158 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0010g0173 a0001c0001t0010g0174 a0001c0001t0010g0175 a0001c0001t0010g0181 a0001c0001t0011g0143 a0001c0001t0012g0036 a0001c0001t0012g0038 a0001c0001t0012g0079 a0001c0001t0012g0204 a0001c0001t0013g0299 a0001c0001t0013g0304 a0001c0001t0014g0136 a0001c0001t0014g0289 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0016g0321 a0001c0001t0017g0018 a0001c0001t0018g0043 a0001c0001t0018g0200 a0001c0001t0023g0058 a0001c0001t0025g0024 a0001c0001t0026g0208 a0001c0001t0028g0212 a0001c0012t0012g0080 a0001c0014t0006g0273 a0001c0017t0014g0286 a0002c0002t0001g0003 a0002c0002t0001g0115 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0002g0002 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0010 a0002c0002t0003g0012 a0002c0002t0003g0062 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0086 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0103 a0002c0002t0003g0105 a0002c0002t0003g0107 a0002c0002t0003g0108 a0002c0002t0003g0109 a0002c0002t0003g0112 a0002c0002t0003g0114 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0123 a0002c0002t0003g0126 a0002c0002t0003g0129 a0002c0002t0003g0132 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0331 a0002c0002t0003g0334 a0002c0002t0005g0110 a0002c0002t0005g0266 a0002c0002t0005g0335 a0002c0002t0006g0002 a0002c0002t0006g0007 a0002c0002t0006g0015 a0002c0002t0006g0083 a0002c0002t0006g0113 a0002c0002t0006g0135 a0002c0002t0006g0186 a0002c0002t0006g0214 a0002c0002t0006g0256 a0002c0002t0006g0258 a0002c0002t0006g0259 a0002c0002t0006g0260 a0002c0002t0006g0265 a0002c0002t0006g0267 a0002c0002t0006g0276 a0002c0002t0006g0277 a0002c0002t0006g0278 a0002c0002t0006g0279 a0002c0002t0006g0280 a0002c0002t0006g0323 a0002c0002t0006g0324 a0002c0002t0007g0004 a0002c0002t0007g0085 a0002c0002t0007g0087 a0002c0002t0007g0101 a0002c0002t0007g0104 a0002c0002t0007g0106 a0002c0002t0007g0116 a0002c0002t0007g0120 a0002c0002t0007g0121 a0002c0002t0007g0122 a0002c0002t0007g0125 a0002c0002t0007g0130 a0002c0002t0007g0131 a0002c0002t0007g0151 a0002c0002t0007g0184 a0002c0002t0007g0189 a0002c0002t0007g0192 a0002c0002t0007g0194 a0002c0002t0007g0330 a0002c0002t0011g0002 a0002c0002t0011g0007 a0002c0002t0011g0015 a0002c0002t0011g0117 a0002c0002t0011g0257 a0002c0002t0011g0261 a0002c0002t0011g0262 a0002c0002t0011g0263 a0002c0002t0011g0264 a0002c0002t0011g0268 a0002c0002t0011g0274 a0002c0002t0011g0275 a0002c0002t0011g0322 a0002c0002t0019g0332 a0002c0002t0019g0333 a0002c0002t0020g0019 a0002c0002t0020g0020 a0002c0002t0021g0337 a0002c0002t0021g0338 a0002c0002t0022g0307 a0002c0002t0027g0090 a0004c0004t0013g0305 a0004c0004t0013g0320 a0005c0016t0007g0111 a0006c0006t0008g0313 a0007c0011t0001g0336 a0009c0009t0003g0133 a0010c0008t0006g0185 a0011c0007t0024g0049 a0012c0013t0004g0148 a0013c0005t0012g0064	305	368	0.8288	-318	c.433 others(15): Show c.433-423_433-106del	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DGKB_chr7_14140049_14907751	14188363	TAAAAGAT others(311): Show TAAAAGATCCCCAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCTAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01993.hp2 others(9): Show HG00280.hp1 HG00741.hp1 HG01993.hp2 HG02055.hp2 HG02135.hp1 HG02280.hp1 HG02622.hp2 NA18984.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0012 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0004t0003 a0001c0009t0009	a0001c0001t0001g0134 a0001c0001t0002g0106 a0001c0001t0002g0111 others(9): Show a0001c0001t0001g0134 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0143 a0001c0002t0002g0020 a0001c0002t0012g0120 a0001c0003t0003g0094 a0001c0003t0005g0016 a0001c0003t0009g0004 a0001c0004t0003g0049 a0001c0004t0003g0067 a0001c0009t0009g0125	12	148	0.0811	-318	c.212 others(21): Show c.2123-10530_2123-10213del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212069	TTTTACTC others(311): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTT ACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0046 a0001c0002t0012g0046	1	148	0.0068	-318	c.212 others(21): Show c.2123-34236_2123-33919del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14870794	TAAAAAAA others(311): Show TAAAAAAAAGAAAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGAGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(138): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19081.hp1 NA19081.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0002c0005 a0002c0007 a0003c0010 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0034 a0001c0002t0038 a0001c0002t0040 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0018 a0001c0003t0035 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0026 a0001c0004t0027 a0001c0006t0004 a0001c0006t0008 a0001c0006t0019 a0001c0008t0003 a0001c0009t0002 a0001c0009t0009 a0001c0012t0003 a0001c0013t0017 a0001c0014t0001 a0001c0015t0032 a0001c0016t0001 a0001c0017t0024 a0002c0005t0006 a0002c0005t0011 a0002c0007t0006 a0003c0010t0033 a0004c0011t0002	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(138): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0021g0029 a0001c0001t0023g0122 a0001c0001t0025g0021 a0001c0001t0028g0095 a0001c0001t0039g0022 a0001c0001t0041g0147 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0053 a0001c0002t0001g0070 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0002g0020 a0001c0002t0002g0065 a0001c0002t0002g0074 a0001c0002t0002g0102 a0001c0002t0002g0107 a0001c0002t0002g0128 a0001c0002t0002g0137 a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0027 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0003g0135 a0001c0002t0004g0088 a0001c0002t0009g0064 a0001c0002t0012g0046 a0001c0002t0012g0120 a0001c0002t0013g0104 a0001c0002t0022g0013 a0001c0002t0029g0002 a0001c0002t0030g0092 a0001c0002t0031g0008 a0001c0002t0034g0014 a0001c0002t0038g0093 a0001c0002t0040g0068 a0001c0002t0042g0148 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0001g0087 a0001c0003t0001g0136 a0001c0003t0002g0028 a0001c0003t0002g0116 a0001c0003t0003g0056 a0001c0003t0003g0094 a0001c0003t0004g0009 a0001c0003t0004g0012 a0001c0003t0004g0083 a0001c0003t0005g0016 a0001c0003t0005g0073 a0001c0003t0005g0124 a0001c0003t0005g0130 a0001c0003t0008g0011 a0001c0003t0009g0004 a0001c0003t0010g0089 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0015g0086 a0001c0003t0018g0061 a0001c0003t0035g0126 a0001c0003t0037g0005 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0127 a0001c0004t0002g0112 a0001c0004t0002g0115 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0003g0067 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0004t0026g0138 a0001c0004t0027g0059 a0001c0006t0004g0145 a0001c0006t0008g0080 a0001c0006t0019g0144 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0009t0002g0082 a0001c0009t0009g0125 a0001c0012t0003g0015 a0001c0013t0017g0084 a0001c0014t0001g0018 a0001c0015t0032g0019 a0001c0016t0001g0039 a0001c0017t0024g0146 a0002c0005t0006g0139 a0002c0005t0011g0062 a0002c0005t0011g0079 a0002c0007t0006g0030 a0002c0007t0006g0041 a0003c0010t0033g0007 a0004c0011t0002g0110	141	148	0.9527	-318	c.-18 others(21): Show c.-187-29662_-187-29345del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1396699	AGAGTCGT others(311): Show AGAGTCGTGTATTGACGGACCTTTGCCAGGTGATGGCACAGTAGTGATGC TCATGGGCTGTGTTCTTTCTTCGGGATAATTGCAGCTTGAAACTCCTGGG CATCTGTGATTGGACTTTGGCAAAGTGAATGTATGTGTGTTGGAATGGGG CGTGTGTCTTTGTTAAATGTGACGTTTCTGTTTTTTTTTTGAGACGGAGT CTCTGTGACTCTTTTTTTACAACTATTCCCCCCAAATGGAGACAGATCAG TTTTGCTCTAAATGTGAATCCGAGGCCTCAGGAAGGCATTCGAGGTTTTC AGAACCTCCTTGTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02647.hp1 HG01361.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0023 a0001c0003t0017 a0001c0002t0023 a0001c0003t0017	a0001c0002t0023g0005 a0001c0003t0017g0004 a0001c0002t0023g0005 a0001c0003t0017g0004	2	40	0.0500	-318	c.107 others(21): Show c.107-104652_107-104335del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ENAH_chr1_225481829_225658123	225574605	AATATATA others(311): Show AATATATAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGGTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02486.hp2 others(4): Show HG01109.hp1 HG01243.hp2 HG02486.hp2 HG02622.hp2 HG03098.hp2 HG03927.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0048 a0001c0001t0058 a0001c0001t0076 others(4): Show a0001c0001t0048 a0001c0001t0058 a0001c0001t0076 a0001c0001t0077 a0001c0001t0089 a0001c0003t0014 a0001c0011t0105	a0001c0001t0048g0060 a0001c0001t0058g0086 a0001c0001t0076g0085 others(4): Show a0001c0001t0048g0060 a0001c0001t0058g0086 a0001c0001t0076g0085 a0001c0001t0077g0084 a0001c0001t0089g0151 a0001c0003t0014g0025 a0001c0011t0105g0195	7	308	0.0227	-318	c.6-7 others(13): Show c.6-7509_6-7192del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
ENAH_chr1_225481829_225658123	225574613	AAAAAAAG others(311): Show AAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGGT AACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005 a0005c0012 a0006c0009 a0007c0010 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0080 a0001c0001t0083 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0104 a0001c0001t0106 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0002t0017 a0002c0002t0056 a0003c0004t0004 a0003c0004t0008 a0003c0004t0011 a0003c0004t0051 a0003c0004t0062 a0004c0005t0024 a0004c0005t0031 a0004c0005t0064 a0005c0012t0013 a0006c0009t0004 a0007c0010t0087 a0008c0007t0061	a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0082 others(208): Show a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0246 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0002g0017 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0152 a0001c0001t0002g0190 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0227 a0001c0001t0002g0292 a0001c0001t0002g0303 a0001c0001t0004g0015 a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0264 a0001c0001t0004g0277 a0001c0001t0005g0124 a0001c0001t0005g0130 a0001c0001t0005g0155 a0001c0001t0005g0222 a0001c0001t0005g0230 a0001c0001t0005g0232 a0001c0001t0005g0299 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0145 a0001c0001t0006g0156 a0001c0001t0006g0213 a0001c0001t0006g0216 a0001c0001t0006g0265 a0001c0001t0007g0014 a0001c0001t0007g0217 a0001c0001t0007g0293 a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0300 a0001c0001t0009g0009 a0001c0001t0009g0032 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0244 a0001c0001t0009g0261 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0010g0164 a0001c0001t0010g0165 a0001c0001t0010g0233 a0001c0001t0010g0234 a0001c0001t0011g0031 a0001c0001t0011g0080 a0001c0001t0011g0099 a0001c0001t0011g0266 a0001c0001t0012g0143 a0001c0001t0012g0223 a0001c0001t0012g0224 a0001c0001t0013g0033 a0001c0001t0013g0038 a0001c0001t0013g0042 a0001c0001t0013g0056 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0015g0004 a0001c0001t0015g0007 a0001c0001t0016g0027 a0001c0001t0016g0028 a0001c0001t0016g0029 a0001c0001t0016g0030 a0001c0001t0017g0196 a0001c0001t0017g0259 a0001c0001t0017g0262 a0001c0001t0021g0064 a0001c0001t0021g0126 a0001c0001t0021g0171 a0001c0001t0022g0093 a0001c0001t0022g0157 a0001c0001t0023g0047 a0001c0001t0023g0142 a0001c0001t0024g0110 a0001c0001t0024g0218 a0001c0001t0025g0035 a0001c0001t0025g0041 a0001c0001t0025g0043 a0001c0001t0030g0026 a0001c0001t0030g0055 a0001c0001t0031g0229 a0001c0001t0032g0019 a0001c0001t0032g0271 a0001c0001t0033g0254 a0001c0001t0033g0286 a0001c0001t0034g0247 a0001c0001t0034g0248 a0001c0001t0035g0036 a0001c0001t0035g0037 a0001c0001t0036g0089 a0001c0001t0036g0282 a0001c0001t0041g0021 a0001c0001t0041g0166 a0001c0001t0042g0001 a0001c0001t0043g0006 a0001c0001t0044g0005 a0001c0001t0045g0209 a0001c0001t0047g0263 a0001c0001t0049g0243 a0001c0001t0050g0212 a0001c0001t0052g0097 a0001c0001t0053g0294 a0001c0001t0054g0199 a0001c0001t0055g0008 a0001c0001t0057g0044 a0001c0001t0063g0147 a0001c0001t0065g0104 a0001c0001t0066g0108 a0001c0001t0067g0109 a0001c0001t0068g0159 a0001c0001t0069g0098 a0001c0001t0070g0101 a0001c0001t0071g0226 a0001c0001t0072g0225 a0001c0001t0073g0045 a0001c0001t0074g0057 a0001c0001t0075g0012 a0001c0001t0078g0241 a0001c0001t0080g0083 a0001c0001t0083g0081 a0001c0001t0099g0088 a0001c0001t0100g0046 a0001c0001t0102g0118 a0001c0001t0104g0161 a0001c0001t0106g0150 a0001c0001t0112g0304 a0001c0001t0113g0305 a0001c0001t0114g0307 a0001c0001t0115g0306 a0001c0001t0116g0308 a0002c0002t0001g0076 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0002g0191 a0002c0002t0002g0198 a0002c0002t0004g0256 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0008g0276 a0002c0002t0017g0291 a0002c0002t0056g0242 a0003c0004t0004g0258 a0003c0004t0008g0298 a0003c0004t0011g0197 a0003c0004t0051g0236 a0003c0004t0062g0016 a0004c0005t0024g0272 a0004c0005t0031g0215 a0004c0005t0064g0210 a0005c0012t0013g0034 a0006c0009t0004g0283 a0007c0010t0087g0059 a0008c0007t0061g0116	211	308	0.6851	-318	c.6-7 others(13): Show c.6-7517_6-7200del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
EPHA7_chr6_93235020_93424559	93314843	TGACAATA others(311): Show TGACAATATAATTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG02970.hp2 others(1): Show HG02717.hp2 HG02809.hp1 HG02970.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0182 a0001c0002t0002g0270 others(1): Show a0001c0002t0002g0170 a0001c0002t0002g0182 a0001c0002t0002g0270 a0001c0002t0002g0271	4	280	0.0143	-318	c.132 others(21): Show c.1324+41556_1324+41873del	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
ERICH1_chr8_659200_736224	695686	ACCTGTGC others(311): Show ACCTGTGCTTGCTCCTCTCGCCCTCCACTCCTCTACTTCCTCCCCATCAG CCTGCGCCTGTGCTGGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCC ATCAACCTGCACCTGTGCTGGCTCCTCTCACCCTCCCTTCCTCTCCTCCC TCCCCATCAGCCTGCACCTGTGCTCGCTCCTCTCACCCTCCACTCCTCTC CTTCCTCCCCATCAGCCTGCACTCGCTCCTCTCACCCTCCACTCCTCTCC TTCCTCCCCATCAGCCTGCACTCGCTCCTCTCACCCTCCACTCCTCTCCT TCCTCCCCATCAGCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG03471.hp1 others(1): Show HG02615.hp1 HG02647.hp2 HG03471.hp1 HG03516.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0007 a0003c0004 a0005c0007	a0003c0004t0002 a0005c0007t0001 a0003c0004t0002 a0005c0007t0001	a0003c0004t0002g0291 a0005c0007t0001g0238 a0005c0007t0001g0239 others(1): Show a0003c0004t0002g0291 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240	4	378	0.0106	-318	c.170 others(17): Show c.170-3392_170-3075del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
FOXN3_chr14_89151177_89422233	89362320	ACCTCTAC others(311): Show ACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTC CACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCT CCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCACCACCTCCTCC TCCACCACCACCACCACCACCACCACCATCTCCACCACCACCACCACCAT CTCTACGACCACCACCACCACCATCTCCACCACCACCTCCACCACCACCA CCACCACCATCTCTACGACCACCACCACCACCACCATCTCTACGACCACC ACCACCTCCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0034 a0001c0001t0094g0034	1	230	0.0044	-318	c.544 others(19): Show c.544-11830_544-11513del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAD1_chr2_170811887_170866151	170828085	TCACCCCT others(311): Show TCACCCCTCCTCCTTCTGCTGTCCTCCCTCTGCTGTCCTCACCCTCCTCC CTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCGCCCTCCTCTCTCT GCTGTCCTCACCTCTCCTCTCTCTGCTATCCTCACCCCTCCTCTTTCTGC TGTCCTCACCCCTCCTCTCTCTGCTGTCCTCACCCCTCCCCTTCCCTCTG CTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCTTCCCTCTGCTGT CATCTTCCTCCCTCTGCTGTCCTCATCCCCTTCCCTCTGCTGTCCTCACC CTCCTCCCTCTGCTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02896.hp1 others(3): Show HG02647.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0001 a0001c0013t0001 a0001c0004t0001 a0001c0013t0001	a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0001g0118 others(3): Show a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0001g0118 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0013t0001g0117	6	412	0.0146	-318	c.146 others(17): Show c.146-1384_146-1067del	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GARIN1A_chr7_128667292_128692877	128669156	GTTGAACA others(311): Show GTTGAACACCAGCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCC AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(143): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18968.hp2 NA18970.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0009	a0002c0002 a0003c0003 a0003c0011 others(2): Show a0002c0002 a0003c0003 a0003c0011 a0007c0008 a0009c0012	a0002c0002t0001 a0002c0002t0014 a0002c0002t0017 others(30): Show a0002c0002t0001 a0002c0002t0014 a0002c0002t0017 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0061 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0003c0003t0003 a0003c0003t0012 a0003c0003t0041 a0003c0003t0042 a0003c0003t0043 a0003c0003t0044 a0003c0003t0045 a0003c0003t0046 a0003c0003t0049 a0003c0011t0047 a0007c0008t0027 a0009c0012t0003	a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0015 others(69): Show a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0014g0001 a0002c0002t0014g0025 a0002c0002t0014g0066 a0002c0002t0014g0073 a0002c0002t0017g0001 a0002c0002t0017g0065 a0002c0002t0017g0069 a0002c0002t0017g0086 a0002c0002t0027g0001 a0002c0002t0028g0001 a0002c0002t0028g0007 a0002c0002t0029g0001 a0002c0002t0029g0007 a0002c0002t0030g0001 a0002c0002t0030g0063 a0002c0002t0031g0001 a0002c0002t0031g0036 a0002c0002t0054g0007 a0002c0002t0055g0001 a0002c0002t0056g0064 a0002c0002t0061g0007 a0002c0002t0063g0007 a0002c0002t0064g0001 a0002c0002t0065g0084 a0002c0002t0066g0007 a0002c0002t0067g0001 a0002c0002t0068g0007 a0002c0002t0069g0001 a0002c0002t0070g0015 a0002c0002t0071g0072 a0003c0003t0003g0002 a0003c0003t0003g0019 a0003c0003t0003g0024 a0003c0003t0003g0037 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0079 a0003c0003t0003g0081 a0003c0003t0003g0082 a0003c0003t0012g0002 a0003c0003t0012g0019 a0003c0003t0041g0002 a0003c0003t0042g0002 a0003c0003t0043g0080 a0003c0003t0044g0002 a0003c0003t0045g0002 a0003c0003t0046g0083 a0003c0003t0049g0002 a0003c0011t0047g0078 a0007c0008t0027g0001 a0009c0012t0003g0060	146	428	0.3411	-318	c.-32 others(11): Show c.-3241_-2924del	GARIN1A	ENSG00000205085.13	transcript	ENST00000682356.1	protein_coding		3135		chr7	TogoVar
GARIN1A_chr7_128667292_128692877	128669157	TTGAACAC others(311): Show TTGAACACCAGCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCCA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(271): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0008	a0001c0001 a0001c0006 a0001c0009 others(4): Show a0001c0001 a0001c0006 a0001c0009 a0004c0004 a0005c0005 a0006c0007 a0008c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(59): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0006t0023 a0001c0006t0040 a0001c0009t0002 a0004c0004t0007 a0004c0004t0009 a0004c0004t0020 a0004c0004t0025 a0004c0004t0048 a0004c0004t0050 a0004c0004t0051 a0004c0004t0052 a0004c0004t0053 a0005c0005t0004 a0006c0007t0072 a0008c0010t0004	a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0013 others(165): Show a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0166 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0046 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0005g0008 a0001c0001t0005g0010 a0001c0001t0005g0023 a0001c0001t0005g0027 a0001c0001t0005g0098 a0001c0001t0005g0108 a0001c0001t0005g0116 a0001c0001t0005g0130 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0151 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0012 a0001c0001t0006g0016 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0046 a0001c0001t0006g0049 a0001c0001t0006g0097 a0001c0001t0006g0113 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0131 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0008g0005 a0001c0001t0008g0009 a0001c0001t0008g0013 a0001c0001t0008g0017 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0043 a0001c0001t0008g0100 a0001c0001t0008g0103 a0001c0001t0008g0111 a0001c0001t0008g0118 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0009 a0001c0001t0010g0032 a0001c0001t0010g0104 a0001c0001t0010g0133 a0001c0001t0011g0003 a0001c0001t0011g0041 a0001c0001t0011g0093 a0001c0001t0015g0028 a0001c0001t0015g0029 a0001c0001t0015g0126 a0001c0001t0016g0011 a0001c0001t0018g0022 a0001c0001t0018g0164 a0001c0001t0019g0010 a0001c0001t0019g0107 a0001c0001t0019g0109 a0001c0001t0019g0153 a0001c0001t0021g0023 a0001c0001t0021g0087 a0001c0001t0021g0150 a0001c0001t0022g0003 a0001c0001t0022g0004 a0001c0001t0022g0106 a0001c0001t0024g0127 a0001c0001t0024g0128 a0001c0001t0032g0005 a0001c0001t0032g0009 a0001c0001t0033g0045 a0001c0001t0034g0017 a0001c0001t0034g0039 a0001c0001t0035g0003 a0001c0001t0036g0016 a0001c0001t0036g0132 a0001c0001t0037g0011 a0001c0001t0038g0011 a0001c0001t0039g0022 a0001c0001t0057g0092 a0001c0001t0058g0149 a0001c0001t0059g0008 a0001c0001t0060g0117 a0001c0001t0062g0152 a0001c0001t0073g0016 a0001c0001t0074g0143 a0001c0001t0075g0012 a0001c0001t0076g0154 a0001c0001t0077g0112 a0001c0001t0078g0044 a0001c0001t0079g0017 a0001c0001t0080g0005 a0001c0001t0081g0110 a0001c0001t0082g0136 a0001c0001t0083g0139 a0001c0001t0084g0134 a0001c0001t0085g0005 a0001c0001t0086g0124 a0001c0001t0087g0040 a0001c0001t0088g0004 a0001c0001t0089g0004 a0001c0001t0090g0003 a0001c0001t0091g0155 a0001c0001t0092g0029 a0001c0006t0023g0047 a0001c0006t0040g0165 a0001c0009t0002g0005 a0004c0004t0007g0006 a0004c0004t0007g0014 a0004c0004t0007g0018 a0004c0004t0007g0030 a0004c0004t0007g0052 a0004c0004t0007g0055 a0004c0004t0007g0057 a0004c0004t0009g0006 a0004c0004t0009g0014 a0004c0004t0009g0051 a0004c0004t0009g0053 a0004c0004t0009g0054 a0004c0004t0009g0122 a0004c0004t0020g0006 a0004c0004t0020g0018 a0004c0004t0020g0031 a0004c0004t0025g0006 a0004c0004t0048g0018 a0004c0004t0050g0006 a0004c0004t0051g0056 a0004c0004t0052g0031 a0004c0004t0053g0050 a0005c0005t0004g0003 a0005c0005t0004g0048 a0006c0007t0072g0156 a0008c0010t0004g0159	274	428	0.6402	-318	c.-32 others(11): Show c.-3240_-2923del	GARIN1A	ENSG00000205085.13	transcript	ENST00000682356.1	protein_coding		3134		chr7	TogoVar
GFRAL_chr6_55322469_55407493	55397225	TAAAAAAA others(311): Show TAAAAAAATGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02258.hp1 HG02630.hp2 others(6): Show HG01256.hp2 HG02258.hp1 HG02630.hp2 HG02717.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp1 NA18906.hp1 NA20300.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0002 a0004c0004t0005 others(1): Show a0003c0003t0002 a0004c0004t0002 a0004c0004t0005 a0004c0004t0009	a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0244 others(6): Show a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0244 a0004c0004t0002g0204 a0004c0004t0002g0205 a0004c0004t0005g0211 a0004c0004t0005g0212 a0004c0004t0005g0213 a0004c0004t0009g0266	9	386	0.0233	-318	c.953 others(17): Show c.953-1943_953-1626del	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41678417	ACCAACAA others(311): Show ACCAACAAGGAGGAGGCTGTAATTAGCCCAGCTGCTCTAGGCCAGGGGCT TGGAATTCCTGTGGGCCTAGAGAAGCAGCCTTGTCCATTTCCTCTTCCCA GGGGTGGCCTCCGGCTCGCGCTCCTCTCCACCCACACACCTCTTCCCCAG AACCACAACCACACAGCAGCAGGCACTATCCAGTCTGAGCAGTACCACTG TCTCCCACCCATCCCCCACACATCAAAGCAACTTGGAGAGAAACCCCAGC CCCCTTGGGCCTGAGCCCACCACACCTCTTGGTTACAGTGACTGTGACGA CTGCCCTACCCGCTTGAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp1 HG03486.hp2 HG02451.hp2 HG03225.hp1 HG03486.hp2	a0008 a0016 a0008 a0016	a0008c0010 a0016c0023 a0008c0010 a0016c0023	a0008c0010t0047 a0008c0010t0049 a0016c0023t0010 a0008c0010t0047 a0008c0010t0049 a0016c0023t0010	a0008c0010t0047g0027 a0008c0010t0049g0028 a0016c0023t0010g0081 a0008c0010t0047g0027 a0008c0010t0049g0028 a0016c0023t0010g0081	3	134	0.0224	-318	c.-72 others(21): Show c.-721+22181_-721+22498del	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8			chr1	TogoVar
ITGB8_chr7_20325900_20420754	20353636	TAAGAAAA others(311): Show TAAGAAAACGGTAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCCAGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGAAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG03540.hp1 others(1): Show HG00738.hp1 HG02055.hp2 HG03540.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0017 a0003c0006t0014 a0001c0002t0017 a0003c0006t0014	a0001c0002t0017g0025 a0003c0006t0014g0184 a0003c0006t0014g0185 others(1): Show a0001c0002t0017g0025 a0003c0006t0014g0184 a0003c0006t0014g0185 a0003c0006t0014g0186	4	342	0.0117	-318	c.128 others(17): Show c.128-9985_128-9668del	ITGB8	ENSG00000105855.10	transcript	ENST00000222573.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITSN1_chr21_33637501_33904861	33778559	TTATAATA others(311): Show TTATAATATTCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01243.hp1 others(7): Show HG00639.hp1 HG00741.hp2 HG01243.hp1 HG01952.hp1 HG02055.hp2 HG02559.hp2 HG02965.hp1 HG03139.hp2 HG03453.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0028 others(2): Show a0001c0001 a0001c0002 a0001c0028 a0001c0029 a0003c0008	a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 others(6): Show a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0002t0015 a0001c0002t0071 a0001c0028t0059 a0001c0029t0069 a0003c0008t0026 a0003c0008t0076	a0001c0001t0019g0080 a0001c0001t0022g0236 a0001c0001t0028g0129 others(7): Show a0001c0001t0019g0080 a0001c0001t0022g0236 a0001c0001t0028g0129 a0001c0002t0015g0081 a0001c0002t0071g0193 a0001c0028t0059g0152 a0001c0029t0069g0153 a0003c0008t0026g0034 a0003c0008t0026g0035 a0003c0008t0076g0033	10	242	0.0413	-318	c.159 others(19): Show c.1597-2887_1597-2570del	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	14/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
LEXM_chr1_54801063_54847252	54821878	TCTTATTT others(311): Show TCTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTTCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(79): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02602.hp1 HG02615.hp1 HG02717.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03654.hp1 HG03942.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19064.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0005 a0004c0012 a0006c0014	a0001c0002t0002 a0001c0002t0009 a0001c0003t0003 others(7): Show a0001c0002t0002 a0001c0002t0009 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0004t0003 a0002c0001t0001 a0002c0005t0004 a0004c0012t0004 a0006c0014t0003	a0001c0002t0002g0238 a0001c0002t0009g0230 a0001c0003t0003g0003 others(52): Show a0001c0002t0002g0238 a0001c0002t0009g0230 a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0044 a0001c0003t0003g0047 a0001c0003t0003g0057 a0001c0003t0003g0106 a0001c0003t0003g0215 a0001c0003t0003g0216 a0001c0003t0003g0220 a0001c0003t0003g0221 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0225 a0001c0003t0003g0227 a0001c0003t0003g0228 a0001c0003t0003g0229 a0001c0003t0003g0232 a0001c0003t0003g0236 a0001c0003t0003g0239 a0001c0003t0003g0240 a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0004g0027 a0001c0003t0008g0226 a0001c0004t0003g0043 a0001c0004t0003g0191 a0001c0004t0003g0192 a0001c0004t0003g0193 a0002c0001t0001g0161 a0002c0005t0004g0012 a0002c0005t0004g0030 a0002c0005t0004g0040 a0002c0005t0004g0069 a0002c0005t0004g0070 a0002c0005t0004g0081 a0002c0005t0004g0082 a0002c0005t0004g0083 a0002c0005t0004g0084 a0002c0005t0004g0118 a0002c0005t0004g0119 a0002c0005t0004g0129 a0002c0005t0004g0163 a0004c0012t0004g0024 a0004c0012t0004g0284 a0006c0014t0003g0048 a0006c0014t0003g0233	82	382	0.2147	-318	c.118 others(19): Show c.1184+4768_1184+5085del	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124506949	GAGGATTT others(311): Show GAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGG AGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGA GGATTTCAGGTGTAGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGA TTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGAT TTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAGGGTAGGCAGGATT TCAGGTCGGGGGGGTAGAC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18944.hp1 NA18965.hp2 HG02738.hp2 NA18944.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0240 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0240	3	260	0.0115	-318	c.624 others(17): Show c.624+8837_624+9154del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOK_chr14_102223836_102310164	102287815	TTGAGATT others(311): Show TTGAGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGATTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCACCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG01884.hp2 HG02818.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0048 a0005c0007t0002g0049 a0005c0007t0002g0048 a0005c0007t0002g0049	2	252	0.0079	-318	c.8-4 others(13): Show c.8-4541_8-4224del	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	1/11			chr14	TogoVar
MTDH_chr8_97639184_97735260	97708368	CCCTCCCA others(311): Show CCCTCCCAGGTTCAAGTGATTCTCCCTCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGCACGCATCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGA GACGGGTTTTTGCCATGTTAGCCAGGCTGGTCTCAAACTCCTGAGCTCAA GTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACCATGCCAGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATGGAGTTTCCCCGTCTCCCAGGCTGGAGTGCAGTGGCATGATCT CGGCTCTCTGCAACCTCCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp2 HG02559.hp1 others(9): Show HG01081.hp2 HG02258.hp2 HG02559.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0086 a0001c0001t0008 a0001c0001t0023 a0001c0001t0086	a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0008g0157 others(9): Show a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0008g0157 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0008g0163 a0001c0001t0023g0158 a0001c0001t0023g0164 a0001c0001t0023g0165 a0001c0001t0086g0166	12	370	0.0324	-318	c.127 others(19): Show c.1272+1678_1272+1995del	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MUC17_chr7_101015081_101063859	101027979	CCCAGGCT others(311): Show CCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCTGCCTGTCTGGGCT TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTCACCCTTAAA TTTTTTTTTAATTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCCG TCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTG CCTCCCAGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGTGTATGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACTATATTTG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0002 a0009c0008t0002	a0009c0008t0002g0181 a0009c0008t0002g0181	1	366	0.0027	-318	c.83- others(15): Show c.83-3118_83-2801del	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
MYOM3_chr1_24051041_24117135	24076513	TTTTTTTT others(311): Show TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCTCCACCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CCCTAATGTTTCTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0310 a0003c0003t0002g0310	1	364	0.0028	-318	c.258 others(17): Show c.2587-558_2587-241del	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	20/36			chr1	TogoVar
NOCT_chr4_139010781_139050939	139026861	TCTTTTTT others(311): Show TCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTT CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTTT TAGTAGTGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0061 a0001c0001t0006g0061	1	384	0.0026	-318	c.190 others(19): Show c.190+10691_190+11008del	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	1/2			chr4	TogoVar
NOCT_chr4_139010781_139050939	139026863	TTTTTTTT others(311): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTTTTA GTAGTGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19088.hp1 HG02074.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0278 a0001c0001t0007g0158 a0001c0001t0001g0278 a0001c0001t0007g0158	2	384	0.0052	-318	c.190 others(19): Show c.190+10704_190+11021del	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSMF_chr9_137442570_137464334	137451341	TCGTCTCT others(311): Show TCGTCTCTTCCCCTTGATCTCCCCCGCCACGTCTCTTCCCCTTGATCTCC CCCGCCACGTCTCTTCCCCTTGATCTCCCGCGCCACACGCCTCTTCCCCT TGTTCTGCCCTCCACGCCTCTTCCCCTTGGTCTTCCCCACCACACGCCTC TTCCCCTTGGTCTCCCCCGCCACGTCTCTTCCCCTTGGTCTTCCTTGGCC ACACGCCTCTTCCCCTTGATCTCCCCACCATGCCTCTTCCCCTTGATCTC CCCCTCCACACGCCTCTTCCCCTTGATCTTCCCCTGCCCCTCGTCTCTTC CCCTTGATCTCCCCCGCCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02622.hp2 others(10): Show HG02257.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0021 a0001c0001t0001g0111 a0001c0001t0001g0119 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0005g0020 a0001c0001t0005g0112 a0001c0001t0005g0116 a0001c0001t0005g0171 a0001c0001t0006g0059	13	414	0.0314	-318	c.123 others(18): Show c.1236+706_1236+1023del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
OR5V1_chr6_29348749_29373865	29364500	CAAAAAGA others(311): Show CAAAAAGAACAAAGCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(265): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0006 a0001c0008 others(6): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0011 a0003c0003 a0004c0004 a0005c0007 a0008c0010	a0001c0001t0001 a0001c0001t0008 a0001c0006t0004 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0006t0004 a0001c0008t0001 a0002c0002t0001 a0002c0002t0010 a0002c0011t0001 a0003c0003t0004 a0004c0004t0001 a0004c0004t0005 a0005c0007t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0008g0129 a0001c0006t0004g0021 a0001c0006t0004g0027 a0001c0006t0004g0041 a0001c0008t0001g0126 a0001c0008t0001g0131 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0038 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0064 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0133 a0002c0002t0010g0051 a0002c0011t0001g0098 a0003c0003t0004g0009 a0003c0003t0004g0011 a0003c0003t0004g0037 a0003c0003t0004g0091 a0003c0003t0004g0092 a0003c0003t0004g0116 a0003c0003t0004g0122 a0003c0003t0004g0123 a0004c0004t0001g0093 a0004c0004t0005g0005 a0004c0004t0005g0031 a0004c0004t0005g0094 a0004c0004t0005g0125 a0005c0007t0001g0039 a0008c0010t0001g0050	268	427	0.6276	-318	c.-83 others(17): Show c.-83+3814_-83+4131del	OR5V1	ENSG00000243729.5	transcript	ENST00000641768.1	protein_coding	1/1			chr6	TogoVar
PCGF3_chr4_700832_775089	758655	TTCCGGAC others(311): Show TTCCGGACTCCAGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGCTC TTCTTGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG CTCTTCTTGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCT CCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCC TCTCCCGAGCTCTTCTCGC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0278 a0001c0001t0008g0278	1	366	0.0027	-318	c.463 others(17): Show c.463-2613_463-2296del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	758733	TCGCGGCC others(311): Show TCGCGGCCCCTCTCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTCTC CCCGCGCGGCCCCTCTCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCTTT CTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTC TTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGG GTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTC CGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGA CTCCGGGTCTTTCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 NA19240.hp2 HG00280.hp1 HG00738.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0001t0021 a0001c0005t0021 a0001c0001t0008 a0001c0001t0021 a0001c0005t0021	a0001c0001t0008g0319 a0001c0001t0021g0217 a0001c0005t0021g0269 a0001c0001t0008g0319 a0001c0001t0021g0217 a0001c0005t0021g0269	3	366	0.0082	-318	c.463 others(17): Show c.463-2527_463-2210del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759407	CGGGTCTT others(311): Show CGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGA CTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCC GGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCT TCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCT CCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCT TCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGT TCTTCTCCTTCCGGACTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG00280.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0021 a0001c0005t0021 a0001c0001t0021 a0001c0005t0021	a0001c0001t0021g0217 a0001c0005t0021g0269 a0001c0001t0021g0217 a0001c0005t0021g0269	2	366	0.0055	-318	c.463 others(17): Show c.463-1783_463-1466del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PERM1_chr1_970198_987093	976737	ACTCCCCC others(311): Show ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTC CCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG02647.hp2 others(2): Show HG00140.hp2 HG00735.hp2 HG02647.hp2 HG02818.hp1 HG03471.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0025 a0003c0003 a0004c0025	a0003c0003t0004 a0004c0025t0004 a0003c0003t0004 a0004c0025t0004	a0003c0003t0004g0026 a0003c0003t0004g0065 a0003c0003t0004g0071 others(1): Show a0003c0003t0004g0026 a0003c0003t0004g0065 a0003c0003t0004g0071 a0004c0025t0004g0060	5	408	0.0123	-318	c.215 others(17): Show c.2150-431_2150-114del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	976737	ACTCCCCC others(311): Show ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTC CCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG02647.hp1 others(2): Show HG00140.hp2 HG00735.hp2 HG02647.hp1 HG02818.hp2 HG03471.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0005 a0012c0035 a0001c0001 a0003c0005 a0012c0035	a0001c0001t0011 a0003c0005t0001 a0003c0005t0008 others(2): Show a0001c0001t0011 a0003c0005t0001 a0003c0005t0008 a0003c0005t0035 a0012c0035t0004	a0001c0001t0011g0134 a0003c0005t0001g0091 a0003c0005t0008g0018 others(2): Show a0001c0001t0011g0134 a0003c0005t0001g0091 a0003c0005t0008g0018 a0003c0005t0035g0060 a0012c0035t0004g0063	5	422	0.0119	-318	c.21 others(11): Show c.2163_*2480del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		873		chr1	TogoVar
PLPPR3_chr19_807488_826955	818938	TGTGAGCC others(311): Show TGTGAGCCACTGCGCTCGGCCTTATTATTATTATTTTATTTATTATTATT ATTTTTTGAGATGGAGTCTTGCTCTCTTGCCCAAGCTGGCGTGCAGTGGA ACAGTCTCAGCTCACTGCAACCTCCACCTCCCGTCCTCAAGCGATTCTCC CACCTCAGCCTCCGGAGTAGCTGAGACTACAGGCACACACCACCACGCTG GGCTAATTTTTGTATTTTTAGTAGAGGTGTGGTTTCACCACATTGGCCAG ACTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCGTCCCGGCCTCCCA AAGTGCTGGGATGACAGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(190): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(7): Show a0000 a0001 a0002 a0003 a0004 a0007 a0010 a0014 a0015 a0016	a0000c0007 a0000c0009 a0000c0019 others(17): Show a0000c0007 a0000c0009 a0000c0019 a0000c0027 a0000c0028 a0000c0033 a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0003c0004 a0003c0034 a0003c0035 a0004c0006 a0007c0013 a0007c0018 a0010c0015 a0014c0026 a0015c0017 a0016c0021	a0000c0007t0001 a0000c0009t0001 a0000c0009t0002 others(25): Show a0000c0007t0001 a0000c0009t0001 a0000c0009t0002 a0000c0019t0001 a0000c0027t0001 a0000c0028t0001 a0000c0033t0001 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0011t0001 a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0003c0004t0002 a0003c0034t0001 a0003c0035t0001 a0004c0006t0001 a0007c0013t0001 a0007c0018t0001 a0010c0015t0001 a0014c0026t0001 a0015c0017t0001 a0016c0021t0001	a0000c0007t0001g0025 a0000c0007t0001g0120 a0000c0007t0001g0125 others(96): Show a0000c0007t0001g0025 a0000c0007t0001g0120 a0000c0007t0001g0125 a0000c0007t0001g0132 a0000c0009t0001g0024 a0000c0009t0001g0119 a0000c0009t0001g0124 a0000c0009t0002g0131 a0000c0019t0001g0168 a0000c0027t0001g0146 a0000c0028t0001g0175 a0000c0033t0001g0158 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0033 a0001c0001t0002g0096 a0001c0001t0002g0118 a0001c0001t0004g0038 a0001c0001t0006g0135 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0037 a0001c0002t0001g0042 a0001c0002t0001g0102 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0002g0148 a0001c0002t0005g0150 a0001c0011t0001g0032 a0001c0011t0001g0034 a0001c0011t0001g0123 a0002c0003t0001g0005 a0002c0003t0001g0044 a0002c0003t0001g0098 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0170 a0002c0003t0001g0174 a0002c0003t0002g0113 a0003c0004t0001g0010 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0111 a0003c0004t0001g0115 a0003c0004t0001g0117 a0003c0004t0001g0134 a0003c0004t0001g0159 a0003c0004t0001g0177 a0003c0004t0002g0160 a0003c0034t0001g0178 a0003c0035t0001g0112 a0004c0006t0001g0116 a0007c0013t0001g0045 a0007c0013t0001g0169 a0007c0018t0001g0172 a0010c0015t0001g0114 a0014c0026t0001g0173 a0015c0017t0001g0171 a0016c0021t0001g0161	193	398	0.4849	-318	c.75+ others(15): Show c.75+2229_75+2546del	PLPPR3	ENSG00000129951.19	transcript	ENST00000520876.8	protein_coding	2/7			chr19	TogoVar
PRELID3A_chr18_12402929_12437234	12425988	ACACTTTG others(311): Show ACACTTTGGGAGGGTAAGGCAGACAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCCAACATGCTGAAACCCTGTCTCTACTAAAATACAAAAAAAA ACTTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCCGGAGG CTGAGGCAGGGGAATCACTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCC AAGATCATGCCCCTGCAGTCCAGCCTGGTAACAGAGCGAGACTCTGTCTC AAAAAAATAAGAGAGAAAAAGAAAAAGAAAATATAGGCCGGGTGGAGTGG CTCACGCCTGTAATCCCAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	394	0.0025	-318	c.292 others(16): Show c.292-1040_292-723del	PRELID3A	ENSG00000141391.14	transcript	ENST00000440960.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
PRKG1_chr10_51069487_52303350	52067907	CAAGATCC others(311): Show CAAGATCCCTACTTGAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCA GCCGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02965.hp2 HG00639.hp2 HG01243.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0002t0003g0030 a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0002t0003g0030	3	64	0.0469	-318	c.935 others(17): Show c.935+5292_935+5609del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRSS2_chr7_142765970_142779560	142766589	ATTCATGG others(311): Show ATTCATGGGGTACATGTGCAGGTTTGTTACATGGGTATACTGTGTGATGC TGAGGTTTGGGGCACAAATGATCTCCTCACTCAGGAACTGAGCACAGTAC CCAATAGGTATTTTTTCAGCCCTTTCCACACTCCTTCTCTCTTCCCTCTA GTAGTTGCAGTGTCTACTCTTCCCATCTTTACATCCATTTTTACCCAATG CTCAGCTCCGACTTATACATGAGAACGTGATATTTGGTTTTCTGTTCCCA TGTTAATTTGCTTAGGATTATGGTCTCCAGCTCCATCCATGTTGCTGCAA AGGACATGATTTCATTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02300.hp2 HG02683.hp1 others(5): Show HG01099.hp2 HG02300.hp2 HG02683.hp1 HG02809.hp1 NA18976.hp1 NA19078.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0033 a0001c0002t0001g0002 a0001c0002t0001g0003 others(3): Show a0001c0001t0001g0033 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0002c0003t0001g0003 a0003c0004t0001g0003	8	369	0.0217	-318	c.-43 others(11): Show c.-4393_-4076del	PRSS2	ENSG00000275896.7	transcript	ENST00000539842.6	protein_coding		4380		chr7	TogoVar
RASA3_chr13_113972783_114137623	114019751	GTCAGGTG others(311): Show GTCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCCCCCCTCAGGTGGGT GGAGCCTGTGTCCGAGGCATTAGCAGCCCTGTCAGGTGGGTGGAGCCTGT GTCCGAGGCATTAGCCCCCCTCAGGTGGGTGGAGCCTGTGTCCGAGGCAT TAGCAGCCCTGTCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCCCCCG CCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCCCCCGCCAGGTGGGTG GAGCCTGTGTCCGAGGCATTAGCAGCCCTGTCAGGTGGGTGGAGCCTGTG TCCGAGGCATTAGCCCCCC	G G	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	67	0.0149	-318	c.786 others(16): Show c.786-1150_786-833del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	9/23			chr13	TogoVar

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Search Results (Total: 10000 hits)