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
SAMD11_chr1_918923_949574	934064	AGGGGAGG others(637): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	434	0.0023	-644	c.843 others(17): Show c.843-1680_843-1037del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934105	CCGTTACA others(637): Show CCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCA GGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGG TGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCC GTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp1 HG02698.hp2 HG03669.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0040 a0001c0001 a0021c0040	a0001c0001t0003 a0021c0040t0003 a0001c0001t0003 a0021c0040t0003	a0001c0001t0003g0176 a0021c0040t0003g0174 a0001c0001t0003g0176 a0021c0040t0003g0174	2	434	0.0046	-644	c.843 others(16): Show c.843-1596_843-953del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934176	AGGGGAGG others(637): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGG CTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGC TGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	434	0.0023	-644	c.843 others(16): Show c.843-1583_843-940del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC9A3_chr5_465456_529449	467742	ATGTCTGA others(637): Show ATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGT CTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGA CATCCCCTCAGCCTAGAGGGCGCCCTCCTGATCCCCTCATGTCTGACATC CCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCT CAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGC CTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATCCCCTCAGCCTGG AGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGG CGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCC CTCCTGATCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCC TGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGT CCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCC TCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCT GTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	218	0.0046	-644	c.49 others(11): Show c.4993_*5636del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2713		chr5	TogoVar
SULT4A1_chr22_43819509_43867513	43834362	CCACCGCG others(637): Show CCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCC GCAGCCACACCGCGGCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTG CTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCACGCCCCCACCGCGGC CCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACAC CGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGC CCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTC CCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTG AGCTTCCCGCACCCACACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCG TCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCC ACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCCCTGAGCTTCCCGC GCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCT TCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGGCCC TGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCACCCA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	386	0.0026	-644	c.509 others(16): Show c.509-1272_509-629del	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291831	CCCCCATG others(637): Show CCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCC ATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGT CCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCC CTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCC GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCG TGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCC TCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACA CTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01891.hp1 others(20): Show HG00280.hp2 HG00735.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03540.hp2 HG03942.hp2 HG04115.hp1 NA18952.hp2 NA18983.hp2 NA19030.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0005c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0004t0002 a0002c0003t0002 a0005c0013t0001	a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0136 others(19): Show a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0204 a0001c0001t0001g0230 a0001c0001t0005g0012 a0001c0001t0010g0111 a0001c0004t0002g0022 a0001c0004t0002g0023 a0001c0004t0002g0024 a0001c0004t0002g0027 a0001c0004t0002g0029 a0001c0004t0002g0038 a0001c0004t0002g0090 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0088 a0005c0013t0001g0089	23	284	0.0810	-644	c.121 others(16): Show c.1214+24_1214+667del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNG1A_chr9_115837_184056	181183	GCACGATC others(637): Show GCACGATCACAGCTCACTGCAGTCCTAAACTCCTGGGCTCAGGTGATCCT CCCATCTCAGCCTCCCAAGTAGCTGGGACTCCAGTCATATGCCATTACAT CTGGCTAATTTTTCTTTTTCCTTTTGGTAGAGACAGGGTCTCACTATGTT GTCCAGTCTGGTCTAAAGTCTCATCTCTAACAATGAGCAGCCTGTAACCT ATGAGGCCAGCTCAGTCAAGTTGACCAAATAGCATTGTTGTAACAGTATG TAGCCTCAGTGACAGCAAAATAAGTTTTACACATTGGCCAAAAATTAAAT GCACCACAAATATCTATCAACTGATAGACAACTAAAATGTGACAAATGGA TAAACAAAATATGATCTATCCGTACAATGGAAAATTATTTGGCAATAAAC AGGAAAAAGGACTGATACCTGCTACTACATGAACCAATCTTGAAAACATT ATGGTAAGTGAAAAAGGCTATTCACAAAAGACCACACGTTGTATGATCCC ATTTACATAAAATATCCAAAATAGGCAAATCTATAGAGACAGAAAGTGCA TTAATGGTTCCCAGGAGTGGAGGGCTGGGGAGAGACTACAGTGGTTTTTG GGCAGTGATGAAAATGTTCTAAAATTGATTATGGTGATGGTAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp1 others(130): Show HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0003 a0002c0002 a0002c0008 others(2): Show a0001c0003 a0002c0002 a0002c0008 a0008c0013 a0009c0014	a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0008t0001 a0008c0013t0001 a0009c0014t0003	a0001c0003t0001g0059 a0002c0002t0001g0017 a0002c0002t0001g0018 others(122): Show a0001c0003t0001g0059 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0239 a0002c0002t0001g0270 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0349 a0002c0002t0001g0351 a0002c0002t0001g0353 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0276 a0002c0002t0002g0279 a0002c0002t0002g0284 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0330 a0002c0002t0002g0337 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0002g0348 a0002c0002t0003g0005 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0268 a0002c0002t0003g0269 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0277 a0002c0002t0003g0281 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0307 a0002c0002t0003g0350 a0002c0002t0003g0352 a0002c0002t0003g0354 a0002c0002t0003g0355 a0002c0002t0010g0278 a0002c0008t0001g0291 a0002c0008t0001g0303 a0002c0008t0001g0304 a0008c0013t0001g0244 a0009c0014t0003g0280	133	394	0.3376	-644	c.-28 others(11): Show c.-2858_-2215del	ZNG1A	ENSG00000172785.19	transcript	ENST00000356521.9	protein_coding		2128		chr9	TogoVar
CDC34_chr19_526760_547087	540147	GTGGCCAG others(636): Show GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGA ATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCGGAG GCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	328	0.0031	-643	c.498 others(16): Show c.498-1175_498-533del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DLGAP2_chr8_732628_1713476	1403088	ATCCTCCA others(636): Show ATCCTCCAGAGTCGTGAAGAGAGTGTAAAATCGCTGATCACTCCAGGTGG TGAAGGGTGGATGTGAAGTAAGGAGATTAAGGCGACTTACTCGTCGTCCT GCGTAGTGAAGAGATTGTAAAAAGAGGGCTACATCCAAGTCCTCATGCGT GGAGGATGAATTGAGAAGATCCCCCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTA CTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT TGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 NA20300.hp1 HG01891.hp2 HG02818.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0013 a0001c0003t0014 a0002c0006t0021 a0001c0003t0013 a0001c0003t0014 a0002c0006t0021	a0001c0003t0013g0007 a0001c0003t0014g0020 a0002c0006t0021g0014 a0001c0003t0013g0007 a0001c0003t0014g0020 a0002c0006t0021g0014	3	40	0.0750	-643	c.107 others(19): Show c.107-98262_107-97620del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GZMM_chr19_539053_554922	540147	GTGGCCAG others(636): Show GTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGA ATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCC CCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAG AATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGT TTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCGGAG GCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	398	0.0025	-643	c.-39 others(11): Show c.-3924_-3282del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3905		chr19	TogoVar
MYO10_chr5_16656907_16941288	16888257	AGTGACTC others(636): Show AGTGACTCACACCTGTAATCTCAACACTTTGGGAGTCCAAGGTGGGAGGA TTACTTGAGCCTCAGAGTTCAAGACCACCCTAGGCAAGATGGTGAGACTT CATCTCTACAACATTTTTTTTAATTAAAAAATTACTCAAGACCAGCCTGA CAAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTG TGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ACTACTTGAACCCAGGAGGGAGAGGTTGTGGTGAGCCGAAATTGCGCCAC TGCACTCCAGCCTGAACAACAAGAGCGAGACTCCGTCTCAAAAGGAAAAA AAAAATAGCCAGAGATACTCCCATAGTTGGGAGGCTAAGGCAGGAGGATC CCTTGAGCCCAGATGTTCGAGGATACAGTGAGCTCTGATCGTGCTACTGC ACTCCAGCCTGAACAAGATAAGCCAAGACCCCCATCTCTTAAAAAAAAAA AGTAAAATTTGAATTAAATAAAATAGTTCTGGCTCTAAAAAGCACAGAGG TAAACTATGCCCACTCTAATGCCCTTCCTATCTGTTCTCTCTGTTCCATA GGGAATAATTACATAATATAAACAATAGGCCAGGCCAGGCAATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02257.hp2 HG02486.hp2	a0001 a0004 a0001 a0004	a0001c0025 a0004c0061 a0001c0025 a0004c0061	a0001c0025t0149 a0004c0061t0036 a0001c0025t0149 a0004c0061t0036	a0001c0025t0149g0025 a0004c0061t0036g0035 a0001c0025t0149g0025 a0004c0061t0036g0035	2	272	0.0074	-643	c.22- others(17): Show c.22-11193_22-10551del	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	1/40			chr5	TogoVar
MYT1L_chr2_1784113_2336275	2031775	CCCCTCGC others(636): Show CCCCTCGCCAGTGCCTCTCATCCTGTGGCCCAGAGCAGATTCTAGAAGGA GGGCCTTACACACACCCCTCGCCAGTGCCTCTCATCCTGTGACCGAGAGC AGATTCTAGAAGGAGGGCCTTATACACACACCCTCGCCAGTGCCTCTCAT CCTGTGGCTCAGAGCAGATTCTAGAAGAAGGGCCTTATATACACCCCTCG CCAATGTCTCTCATCCTGTGGCCGAGAGCAGATTCTAGAACGAGGGCCTT ATACACACCCCTCGCCAGTACCTCTCATCCTGTGGCCCAGAGCAGATTCT AGAAGGAGGGCCTTACACACACCCCTCGCCAGTGCCTCTCATCCTGTGGC CCAGAGCAGATTCTAGAAGGAGGGCCTTATACACACACCCGTTGCCAGTG CCTCTCATCCTGTGGCCCAGAGCAGATTCTAGAAGGAGGGCCTTACACAC ACCCTCGCCAGTGCCTCTCATCCTGTGGCCCAGAGCAGATTCTAGAAGGA GGGCCTTACACACATCCCTCCCCAGTGCCTCTCATCCTGTGGCCCAGAGC AGATTCTAGAAGGAGGGCCTTATACACACACCCGTCGCCAGTGCCTCTCA TCCTGTGGCCCAGAGCAGATTCTAGAAGGAGGGCCTTACACACA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02647.hp1 others(7): Show HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03942.hp1 NA18990.hp1 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0024 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0002t0015 a0001c0003t0010 a0001c0004t0001 a0001c0024t0020 a0002c0011t0001	a0001c0001t0001g0050 a0001c0001t0002g0090 a0001c0001t0008g0009 others(7): Show a0001c0001t0001g0050 a0001c0001t0002g0090 a0001c0001t0008g0009 a0001c0001t0010g0034 a0001c0002t0015g0008 a0001c0003t0010g0096 a0001c0004t0001g0087 a0001c0024t0020g0064 a0002c0011t0001g0043 a0002c0011t0001g0078	10	104	0.0962	-643	c.-15 others(21): Show c.-158+21560_-158+22202del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
PKP3_chr11_389209_409908	401911	ACCCCGGC others(636): Show ACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGG CCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACC CCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCC GACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCAC CCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCTCCAC TGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCG CTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCA CCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCC CCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTC ACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTC CACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	216	0.0046	-643	c.173 others(18): Show c.1738-1147_1738-505del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RASA3_chr13_113972783_114137623	114006814	CCCTCCTG others(636): Show CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCT GCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCT TACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCA CTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTG GACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCTTA CCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCT CCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCG GACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCC TGCCCTGCCGCCCCCCTCCTGCCCTGCCGGACACCACCTTACCCTTCTCC CCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTG CCGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACGCCACCTT ACCCTTCTCCCCTCCTGCCCTGCCGGACACCACCTTACCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	67	0.0149	-643	c.174 others(16): Show c.1742+76_1742+718del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
TUBGCP2_chr10_133273635_133313872	133291832	CCCCATGT others(636): Show CCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCA TGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTC CCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCC TCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCT CCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACAC TCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0073 a0004c0014t0001g0073	1	284	0.0035	-643	c.121 others(16): Show c.1214+24_1214+666del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049235	AGGGGAAC others(635): Show AGGGGAACATATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGG AACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG GGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGGA ACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGA GGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGG GGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACAT GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	308	0.0033	-642	c.48 others(11): Show c.4854_*5495del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2868		chr8	TogoVar
DPH7_chr9_137549444_137583925	137565752	TCTGTCTG others(635): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	340	0.0029	-642	c.641 others(16): Show c.641-1240_641-599del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818862	GCGCCGTG others(635): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAG AGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTA CCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAG AGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTG AGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTG TACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGT AGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAC TGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCG TGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACC GTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCG ACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	170	0.0059	-642	c.354 others(18): Show c.3540+725_3540+1366del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
FRMD1_chr6_168048095_168084212	168074426	ACATGTGT others(635): Show ACATGTGTACATGTGCGAGTGGTGTGTAACTGTGTGCATGTGTGTGGTGC ATGCATGTGTACATGTGTGACTGGTGTGTGCATGTGTGTGGTGTATGTAT GTGTACATGTGAGTAGTGTGTAATTGTGTGCATGTGTGTGGTTTGTGCAT GTGTACATGTGAGTGGTGTGTAACTGTGTGCATGTGTGTGGTGCATGCAT GTGTACATGTGTGACTGGTGTGTGTGCATGTGTGTGGTGTATGTGTATGT GTGAGTGGTGTGTAATTGTGGGCATGTGTGTGGTTTGTGCATGTGTACAT GTGACTGGTGTGTAACTGTGTGCATGTGTGTGGTGCATGCATGTGTACAT GTGTGACTGGTGTGTGTGTGCATGTGTGTGGTGTATGTATGTGTACGTGT GAGTGGTGTGTAATTGTGGGCATGTGTGTGGTTTGTGCATGTGTACATGT CAGTGGTGCGTAACTGTGTGCATGTGTGTGCTGCATGCATGTGAACAAGT GTGAGTGGTGTGTAACTGCACGTGTGTGGCGTGTGCATGTGTACACGTGC AAGTGGTGTGTAACTGTGTGCACTGTGCATGTGTGTGGTGTGTGCATGTG TACATGGTGCGAATGGTGTGTACCTGCATGTGTGTGGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02080.hp1 HG02129.hp2 others(2): Show HG00438.hp2 HG02080.hp1 HG02129.hp2 NA19002.hp2 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0010 a0001c0005t0005 a0001c0004t0010 a0001c0005t0005	a0001c0004t0010g0022 a0001c0005t0005g0069 a0001c0005t0005g0070 a0001c0004t0010g0022 a0001c0005t0005g0069 a0001c0005t0005g0070	5	402	0.0124	-642	c.304 others(15): Show c.304+177_304+818del	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	2/10			chr6	TogoVar
ITPRID1_chr7_31509090_31661504	31551739	AAATCTGA others(635): Show AAATCTGAATGGTTTGCCTTTTGCAAACAGATTAGAAATGATTTACATGT CATGTGATCAGTGATTATGCATTAAGTTTAGGGATCCTAGAAATGCTACT GAAGTAAGTGTTTGGCTACTTGGCCATTTCTGTAAACTTGAAGGATAAAC GAATGCAAATTAAAGCATATGTCATGGAAGTAATTGCATCAGAAAGTGTG GCTTGAAACCTCACTTTGCTATTTTAGTTTGGTATTTGTTGATTCACCAC CTACTATGTGCCAAAAATCCAGTTAAATTCTAGAGATACATAAATGAGTA AGAGAATGGCCCTTGTTCTCATGGTGCTTATAGTCTGCGGAGACCGAACA ATTTCTTTTGCTGCGCTAAGCTGCTGTGTCCTGCTCTTACTCTGCTAGTT TTACAGGTTGTTCATGAAGGTCAAGTTAAATAATGGGGGCAGCTGATACT TTTTGTGCAAGGTGTGTAATATATTCATAAATATTTTAATTGTCCCAGCC ATCCTATAGGATATATAGCATAGTCATGGGAACATGCTTGAGGTCCAGTG CCTGGTTTTGAGTCCTGGCTGGCTGTTTGGCTTTGGACATGCAACTTAAT CTCTCTGGTCTTCAATTTACCATAAAATTGTGACAATTATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(51): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00673.hp1 HG01167.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp2 HG01993.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02630.hp2 HG02895.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp1 NA18942.hp1 NA18948.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp2	a0002 a0003 a0012 others(3): Show a0002 a0003 a0012 a0015 a0022 a0024	a0002c0001 a0003c0005 a0003c0007 others(4): Show a0002c0001 a0003c0005 a0003c0007 a0012c0016 a0015c0020 a0022c0036 a0024c0031	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(13): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0022 a0003c0005t0001 a0003c0005t0003 a0003c0005t0013 a0003c0007t0003 a0003c0007t0027 a0012c0016t0004 a0012c0016t0030 a0015c0020t0003 a0022c0036t0001 a0024c0031t0003	a0002c0001t0001g0026 a0002c0001t0001g0169 a0002c0001t0001g0175 others(51): Show a0002c0001t0001g0026 a0002c0001t0001g0169 a0002c0001t0001g0175 a0002c0001t0001g0183 a0002c0001t0001g0194 a0002c0001t0001g0210 a0002c0001t0002g0009 a0002c0001t0002g0027 a0002c0001t0002g0047 a0002c0001t0002g0188 a0002c0001t0002g0197 a0002c0001t0002g0203 a0002c0001t0002g0209 a0002c0001t0002g0211 a0002c0001t0002g0214 a0002c0001t0002g0218 a0002c0001t0003g0176 a0002c0001t0003g0178 a0002c0001t0003g0179 a0002c0001t0003g0181 a0002c0001t0003g0182 a0002c0001t0003g0187 a0002c0001t0005g0186 a0002c0001t0007g0046 a0002c0001t0007g0190 a0002c0001t0007g0191 a0002c0001t0022g0174 a0003c0005t0001g0185 a0003c0005t0003g0172 a0003c0005t0003g0173 a0003c0005t0003g0180 a0003c0005t0003g0189 a0003c0005t0003g0192 a0003c0005t0003g0196 a0003c0005t0003g0200 a0003c0005t0003g0205 a0003c0005t0003g0206 a0003c0005t0003g0216 a0003c0005t0003g0217 a0003c0005t0013g0235 a0003c0007t0003g0184 a0003c0007t0003g0195 a0003c0007t0003g0198 a0003c0007t0003g0204 a0003c0007t0003g0212 a0003c0007t0003g0215 a0003c0007t0027g0202 a0012c0016t0004g0177 a0012c0016t0004g0207 a0012c0016t0030g0199 a0015c0020t0003g0193 a0015c0020t0003g0208 a0022c0036t0001g0213 a0024c0031t0003g0201	54	312	0.1731	-642	c.-23 others(16): Show c.-23-1261_-23-620del	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L_chr16_183990_234449	186526	GGGGAACA others(635): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	350	0.0029	-642	c.20 others(11): Show c.2030_*2671del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2463		chr16	TogoVar
RASA3_chr13_113972783_114137623	114006815	CCTCCTGC others(635): Show CCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTG CCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTT ACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCAC TCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGG ACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCTTAC CCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTC CTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGG ACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCC TTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCT GCCCTGCCGCCCCCCTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCC CTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGC CGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACGCCACCTTA CCCTTCTCCCCTCCTGCCCTGCCGGACACCACCTTACCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	67	0.0149	-642	c.174 others(16): Show c.1742+76_1742+717del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1071518	GGCATCAC others(635): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGTA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	118	0.0085	-642	c.224 others(19): Show c.2241+1473_2241+2114del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
CATSPER2_chr15_43623503_43653844	43624364	TGCCACTG others(634): Show TGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCAACTCGGAAAA AAAAAAAAAAAAAGAATCTTTTCTTTTTTTTAGAGATGGAGTTTTGCTGT TGATGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTC CGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCAGTAGCTGGGAT TACAGGTGCAAGCCACCATGCCCAGATGTTTTTTGTATTTTTCAGTAGAG ACGGGGTTTCTCCATGTTGGCCAGACTGCTCTCAAACTCCTGACCTCAGG TGATCTGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCC ACTGCGCCTTGCCAACTTAAAGAATCTTAATACAAAAATTGGTACAAGAA ATAGCATCTTAAGTGAAAGACCTTCAAACAAAATACAGAAAAAGTTAAGC AGCAAGGAGATCTTTGAGGACTCCCCCAGCCCATAGAAACTGTTTAGCAG TTCTTGAGATTAGAATAGGAAGAACAGGTTTGAAGAAGTGGTAATAAGTT CAGTTTTGGACGTATTACAACACAGCGAGACCCCCATCTCTACAAAAAAT TAAAAAATTTAGCCGGGTGTGGTGGTATGCACCTGTAGTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	392	0.0026	-641	c.56 others(11): Show c.5696_*6336del	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding		4138		chr15	TogoVar
MLPH_chr2_237482251_237560322	237544522	GGGGGGGG others(634): Show GGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACA TTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGT CAGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG CACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGA GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGA GTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTG AGTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTG GTAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAG TGTTGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(66): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp2 HG02717.hp1 HG02735.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03942.hp2 NA18747.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19058.hp2 NA19068.hp1 NA19085.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0009 a0012 a0019 a0021 a0022 a0029	a0001c0001 a0001c0010 a0002c0002 others(7): Show a0001c0001 a0001c0010 a0002c0002 a0004c0033 a0009c0029 a0012c0013 a0019c0019 a0021c0026 a0022c0027 a0029c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0010t0001 a0002c0002t0001 a0004c0033t0004 a0009c0029t0001 a0012c0013t0013 a0019c0019t0001 a0021c0026t0002 a0022c0027t0003 a0029c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0002g0037 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0003g0198 a0001c0001t0003g0211 a0001c0001t0004g0135 a0001c0001t0004g0169 a0001c0001t0004g0219 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0012g0213 a0001c0001t0014g0151 a0001c0010t0001g0246 a0001c0010t0001g0247 a0001c0010t0001g0248 a0001c0010t0001g0249 a0002c0002t0001g0080 a0002c0002t0001g0245 a0004c0033t0004g0178 a0009c0029t0001g0124 a0012c0013t0013g0100 a0019c0019t0001g0177 a0021c0026t0002g0043 a0022c0027t0003g0174 a0029c0036t0001g0181	69	286	0.2413	-641	c.153 others(19): Show c.1539+1870_1540-1437del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31510841	GTATATCT others(634): Show GTATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTAT ATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATATCT ATATGTAACATATATGTATATCTATATGTAACATATGTATATCTATATGT AACATATGTATATCTATATGTAACATACATGTATATCTATATGTAACATA CATGTATATCTATATGTAACATACATATATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA CACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATACATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAACAC ATATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACACATATATGTATATCTATATGTAACACACACATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0208 a0001c0006t0018g0208	1	244	0.0041	-641	c.894 others(17): Show c.894-7664_894-7024del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
TBC1D5_chr3_17152168_17747631	17503508	GCCTAGTA others(634): Show GCCTAGTACACGCAAGGCACTCAAATATTTACTGAATGACAAAAAATGAA CTTTAAAAGCTTAAGAAAAGCTGCTACTCCGATAGTTACTGGTTCTATCA TATTTCATACAAAAAACAAACAATATTTGCTATATACCACGTTAGTAAGT TTAAGAAACCAGGTATCAAGAATACTATCTACACAAAATGTTCACTAAGA ATTATGTGCATTAAACATGTGTATTAAATGTAAGCATATTACATATAGTC TATGCTCCCAAATTATGGCCACAAATTTCTTAGAAAAGTAATAATTTATT TCCTTAGCTTTCCCTTTGCCAAGTGATTACTGCTGTGCATTAACTCAATA ATTCTTAATCATCATAACTTGACATTTATTTGCCAGAAAACTCTCTGCCC ATTTGGTTTTATGCAAATTCTGAGATGGGTCATATTTAAAAGAAAACATG GAATAAGTGAATTTTAGGAGAAACTTCAAAGGAAGAGAGGTCAAAGAGAA CAGAGGATAAAACAGGAGAGTATATTAACTTTTGAAACCCTAAAAGGAGA AAAATTCAAGTGCTAGAATTATCAGGGACAATAAAACAGAGTTCATACAT TACAACTTAAGATAGGAAAGAGAAAGACAGATGGAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	162	0.0062	-641	c.97+ others(15): Show c.97+4325_97+4965del	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22			chr3	TogoVar
ZNF273_chr7_64898273_64935981	64898735	AAATTGGT others(634): Show AAATTGGTATCTCTGTAAGCAGGCAGAAGAAGGTGCCCAGTGGAGGTGCA CCACATTGCATGGAAATGCTGTCCACATGCACCTTTGGGGTCTTAATTTA ACTGGGCTGTCATTTGCATGGCTAGATACTTACTGAATCCGGTCATACTG TTTTTGGCAGCTAATGGCATTTGTTCCCCATAAGTTTTCTACAATTATTT GCTTTGCTGAAAAATAAATCTTTTGTTAACTTACTCTAAATTGAGAGACT AGATTTGCAATTTTCAATTTTTAAACATGAAAGCAAAGCAGAGAAGAACA ATATGTGTATATAACATGCATTTTCCTGCCTATGAAAATTCTTGTATTGC CTTGGAAACCCTAGGAAGCCACCTAAAGAATTCTCCCTTCAAATTGTTTA GCCAGAATTTTAAATTTCAAAAGGTCCAAAACTTAACAATTGAGCAAAGC AAAAATCTTGTCTTTGCTTCTTGTTAGTAATCTGTCATTTCAGAAAACAT GGCAATTATGCCAAGCCATTGAAAAAAAATGTGATTTTGGTTAATTTTAT CCCATTTAAAATGTTGTCTTTGTTACTTTTATCATGTTAATCTAAGAGAA ACTATCTACATAACTATTTATGCCTTCAGGAAATATTATGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	422	0.0024	-641	c.-45 others(11): Show c.-4582_-3942del	ZNF273	ENSG00000198039.12	transcript	ENST00000476120.2	protein_coding		4537		chr7	TogoVar
ADARB2_chr10_1172313_1742525	1540528	GTAGTTCA others(633): Show GTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGATGTAGTT CAGACCCTGGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGA TCACAGCCGTCCAGACCCCACTCAGACGCAGTTTGGACCCTGGATCACAG CCGTCCAGACCCCACTCAGACGCAGTTCGGACTCTGGATCCGTCCAGATC CCACTCAGACGTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTC AGATGTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGT AGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGACGTAGTTCAGACCC TGGATCACAGCCGTCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATC CGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCA GACTCCACTCAGACTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCC ACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAG ATGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAG TTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCACACT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0040 a0001c0001t0049g0040	1	106	0.0094	-640	c.101 others(21): Show c.101-162008_101-161369del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AVL9_chr7_32490489_32593726	32572055	GGGAGGCT others(633): Show GGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGTGGCAGAGGTTGCAG GGAGCCGAGATCGTGCCACTGCACTCCAGCTTGGGCGATAGAGTGAAATT CTGTCTCAAAAAAAAAAGAAAAAAAAAAAATTCAGCCACACTGAGGTTTT TGTAGTTTCTGACAGAAAGTATGAAAACATGTTTCTTGGGTGAATGGTTA TAATATAATGAAAGTCCAGGATTCAAAGATGTATTTATTATAATCCCAAA TTTGAAGAAGAAAAAGTATATACATTTTCCAAGACAGGAGGATACAGATG GGAGGACCATAAAGCTGCTTCATCATTATTGGTTACATTCTAGTTCTGTA GTTGGTTGGTGGGTTCGTAGGAATTTCTTTTATTATTATACTTCAAAACT AACCTGTAAGTTACATGTATTTTTTAGTATATCAAATATTACATAATAAG ATATTCTAAAGTATCTGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGTGGGCAGGTCACAAGGTCAAGACATCGAGACC ATCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02486.hp1 HG02622.hp1 others(2): Show HG00733.hp1 HG02486.hp1 HG02622.hp1 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0055 a0001c0007t0016g0056 a0001c0007t0016g0306 others(2): Show a0001c0007t0016g0055 a0001c0007t0016g0056 a0001c0007t0016g0306 a0001c0007t0016g0307 a0001c0007t0016g0308	5	330	0.0152	-640	c.135 others(18): Show c.1351-1123_1351-484del	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP4F11_chr19_15907377_15939529	15932463	GGGAGAGG others(633): Show GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02809.hp2 HG00597.hp2 HG02809.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0096 a0004c0007t0161 a0002c0001t0096 a0004c0007t0161	a0002c0001t0096g0133 a0004c0007t0161g0208 a0002c0001t0096g0133 a0004c0007t0161g0208	2	386	0.0052	-640	c.198 others(17): Show c.198+1108_198+1747del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933261	CGAGGAGA others(633): Show CGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGCAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG01109.hp2 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0108 a0001c0006t0040 a0001c0006t0108	a0001c0006t0040g0127 a0001c0006t0108g0128 a0001c0006t0040g0127 a0001c0006t0108g0128	2	386	0.0052	-640	c.198 others(15): Show c.198+310_198+949del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
EXOC2_chr6_480154_698139	601195	TCCCCTTG others(633): Show TCCCCTTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTA CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0220 a0001c0004t0001g0220	1	272	0.0037	-640	c.743 others(17): Show c.743-2610_743-1971del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
GALNT9_chr12_132191372_132334589	132303630	GAATCGCC others(633): Show GAATCGCCCAGACACACCCTCGCCTGGGCACACCCTCACCCGGGCACAGC CTCACCCGGGCACACCCTCACCGGGGCACACCCTCACCCGGGCACACCCT CACCCAGACACACCCTCACCCGGGCACACCCTCACCGGGGCACACCCTCA CCCGGGCACACCCTCACCCAGACACACCCTCACCCGGGCACACCCTCACC GGGGCACACCCTCACCCGGACACACCCTCGCCCAGACACACCCTCGCCTG GGCACAGCCTCACCGGGGCACACCCTCACCCAGACACAGCCTCGCCCAGA CACACCCTCGCCCGGGCACACCCTCACCTGGGCACAGCCTCACCGGGGCA CACCCTCACCCAGACACAGCCTCACCTGGGCACACCCTCTCCGGGGCACA CCCTCGCCCGGACACACCCTCACCCGGGCACACCCTCACCTGGGCACAGC CTCACCGGGGCACACCCTCACCCAGACACAGCCTCACCCGGGCACACCCT CTCCGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCA CCCAGACACGCCCTCACCCAGACACGCCCTCACCTGGGCACATCCTCACC GGGGCACACCCTCACCCAGACACACCCTCACCCGGGCACAC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp1 HG02698.hp1 others(7): Show HG01175.hp1 HG02280.hp1 HG02698.hp1 HG02738.hp1 HG02976.hp2 HG03209.hp1 HG03486.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0026 a0001c0039 a0001c0040	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0026t0014 a0001c0039t0006 a0001c0040t0007	a0001c0001t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0151 others(7): Show a0001c0001t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0151 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0026t0014g0052 a0001c0039t0006g0001 a0001c0040t0007g0002	10	183	0.0546	-640	c.239 others(19): Show c.239-17840_239-17201del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GIP_chr17_48953554_48973596	48959796	GGTAGGGA others(633): Show GGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCAGGCCACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCAC AGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTG GGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACA GGCGGGCCACAGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGGACAC AGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTG GGTAGGGACAGGCGGGACATAGGATGGGCTCAGCTCTGTGTGTAGGGACA GGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACAC AGGATGGGCTCAGCTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGCT CAGCTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCTGTG TGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02622.hp1 others(3): Show HG02109.hp2 HG02280.hp2 HG02622.hp1 HG02630.hp2 HG02896.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062	6	406	0.0148	-640	c.452 others(16): Show c.452+450_453-1081del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GOLGA3_chr12_132763914_132833869	132792737	TGCACTCG others(633): Show TGCACTCGGAGGGCTCCACACGGACTGACCGCACGGGACCTGCACTCGGA GGGCTCCACACGGACCCACCCCACGGGATCTCCACTCGGAGGGCTCCACA CGGACCGACCACACGGGACCTGCACTCGGAGGGCTCCACACAGACCCACC ACACGGGATCTGCACTCGGAGGGCCCCACACAGACCCACCCCACGGGACC TGCACTCGGAGGGCTCCACACAGACCCACCACACGGGATCTGAACTCGGA GGGCTCCACACAGACAGACCGCACGGGACCCGCACTCGGAGGGCTCCACA CAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACC CCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACA CTGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACC GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18946.hp2 NA18959.hp2 NA18939.hp1 NA18946.hp2 NA18959.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0022 a0003c0008t0007 a0003c0008t0022	a0003c0008t0007g0271 a0003c0008t0007g0273 a0003c0008t0022g0265 a0003c0008t0007g0271 a0003c0008t0007g0273 a0003c0008t0022g0265	3	308	0.0097	-640	c.247 others(19): Show c.2470-2084_2470-1445del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132792897	TGCACTCG others(633): Show TGCACTCGGAGGGCCCCACACAGACCCACCCCACGGGACCTGCACTCGGA GGGCTCCACACAGACCCACCACACGGGATCTGAACTCGGAGGGCTCCACA CAGACAGACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACC GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCCCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACA CAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACTGACCCACC GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGA GGGCTCCACACAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACA CAGACCCACCGCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACC GCACGGGACCCGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACC CGCACTCGGAGGGCTCCACACAGACCCACCGCACGGGACCC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0018 a0005c0006t0018	a0005c0006t0018g0102 a0005c0006t0018g0102	1	308	0.0033	-640	c.247 others(19): Show c.2470-2244_2470-1605del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	11/23			chr12	TogoVar
LPP_chr3_188149157_188895671	188784658	CATATATA others(633): Show CATATATATATTCCATCATATATATATATTCCATCATATATATATATTCC ATCATATATATATATTTCCATCATATATATATTCCATCATATATATATTC CATCATATATATATATTCCATCATATATATATATTCCATCATATATATAT ATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATAT ATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCAT ATATATATATTCCATCATATATATATATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATATAT TCCATCATATATATATTCCATCATCATATATATATTCCATCATATATATA TATTCCATCATATATATATATTCCATCATATATATATATTCCATCATATA TATATATTCCATCATATATATATATTCCATCATATATATATATTCCATCA TATATATATATTCCATCATATATATATATTCCATCATATATATATATTCC ATCATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0065 a0002c0014t0065	a0002c0014t0065g0009 a0002c0014t0065g0009	1	76	0.0132	-640	c.141 others(21): Show c.1410+24442_1410+25081del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
MLPH_chr2_237482251_237560322	237544523	GGGGGGGA others(633): Show GGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACAT TGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTC AGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGG ACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGC ACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAG TGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGA GTGGGGGCACAGTGGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGG TAGGGGGGACAATTATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGT GTTGAGTGGGGGAATAGTTATGAGTGGGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	286	0.0035	-640	c.153 others(19): Show c.1539+1876_1540-1432del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2122847	GGTGGTTA others(633): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGG TGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTC ACGGTGGTAGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTAGGGTC GTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGT CGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGG TCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGT GGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGT TAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAG TTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTG GTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	286	0.0035	-640	c.335 others(19): Show c.335-12409_335-11770del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGPD4_chr2_107821892_107897544	107828079	AGGCAGCG others(633): Show AGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCATCATGGTTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGC CTCGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCG ACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGG CCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCGCTG CTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCCGCGGCG GCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCG CGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGG CTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTG AGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0027 a0027	a0027c0054 a0027c0054	a0027c0054t0045 a0027c0054t0045	a0027c0054t0045g0191 a0027c0054t0045g0191	1	374	0.0027	-640	c.72+ others(14): Show c.72+998_72+1637del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPH3AL_chr17_207389_357807	287653	GCACCCTC others(633): Show GCACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCA CCGACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTC TCCACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTC TCTCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC ACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACC TCACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGT CAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGGCCTCACACCCTCTCTC CACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	133	0.0075	-640	c.352 others(17): Show c.352-6439_352-5800del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SLC25A37_chr8_23523956_23580463	23549706	GTCACTAT others(633): Show GTCACTATCAAGTTAGAAGCCTTTGTGGGAAATCTGGCTTTGGTAGGATC TGGGAAATTTGGACCCCTCATTTGCCCCCTGGCATCTCTAAATTCCAGAG CCCAGCTTTGATGGGGCTTACATCCCCAGCTGTTAACCTGTGGGGTGGGC CCCAGACTGTGGCCAGGTGCATTGCGCTAGGGGAGACAGATCCACAGCAG GCAGAATTTGAGGAGGACTTAAAATACCTGCTTTGGGAGGCCAAGGCGGG CAGATCCCCTGAGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAA ACCCTGTCTCTACTAAAAATACAAAATTAGTTGGGTGCGGTGGCACATGC CTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC GGGAGGCGGAGGTTGTGGTGAGCCGAGATCAAGCCACTGCACTCCAGCCT GGGCAACAAGAGCGAAATTCCGTTTCAAAAAAAAAAAAAAAAAAAACACA AAAAAACAAAAACCCGCTTTGTTACCTGCCTGTGGGTGGAATTGAGTTCA TCTCTGAATCCGTGGTAGTCATTTATTGAGCACGTGTTTTAGTGAGCATG GCATGGCGCTGGCTCCGAGATCACAGTGCTGCCGCCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(146): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp1 HG01243.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0013 a0002c0004 a0002c0006 a0003c0003 a0004c0010 a0005c0011 a0006c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(59): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0052 a0001c0001t0070 a0001c0001t0073 a0001c0001t0086 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0028 a0001c0002t0080 a0001c0005t0003 a0001c0005t0004 a0001c0005t0042 a0001c0005t0043 a0001c0005t0044 a0001c0009t0081 a0001c0013t0003 a0002c0004t0001 a0002c0004t0005 a0002c0004t0008 a0002c0004t0009 a0002c0004t0012 a0002c0004t0019 a0002c0004t0026 a0002c0004t0027 a0002c0004t0035 a0002c0004t0054 a0002c0004t0056 a0002c0004t0060 a0002c0004t0061 a0002c0006t0003 a0002c0006t0004 a0003c0003t0001 a0003c0003t0009 a0004c0010t0038 a0005c0011t0018 a0006c0012t0020	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0364 others(141): Show a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0364 a0001c0001t0005g0004 a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0131 a0001c0001t0005g0139 a0001c0001t0005g0301 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0344 a0001c0001t0006g0366 a0001c0001t0007g0003 a0001c0001t0007g0009 a0001c0001t0007g0132 a0001c0001t0007g0245 a0001c0001t0008g0216 a0001c0001t0009g0004 a0001c0001t0009g0130 a0001c0001t0009g0138 a0001c0001t0009g0140 a0001c0001t0009g0279 a0001c0001t0011g0011 a0001c0001t0011g0090 a0001c0001t0011g0093 a0001c0001t0011g0166 a0001c0001t0011g0243 a0001c0001t0011g0246 a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0013g0345 a0001c0001t0015g0312 a0001c0001t0017g0044 a0001c0001t0017g0106 a0001c0001t0017g0337 a0001c0001t0018g0092 a0001c0001t0021g0059 a0001c0001t0022g0004 a0001c0001t0022g0336 a0001c0001t0023g0268 a0001c0001t0023g0373 a0001c0001t0023g0374 a0001c0001t0023g0375 a0001c0001t0025g0023 a0001c0001t0025g0091 a0001c0001t0025g0195 a0001c0001t0027g0250 a0001c0001t0029g0178 a0001c0001t0031g0040 a0001c0001t0031g0162 a0001c0001t0032g0244 a0001c0001t0032g0299 a0001c0001t0033g0164 a0001c0001t0033g0165 a0001c0001t0034g0003 a0001c0001t0045g0242 a0001c0001t0047g0095 a0001c0001t0049g0062 a0001c0001t0052g0009 a0001c0001t0070g0133 a0001c0001t0073g0267 a0001c0001t0086g0302 a0001c0002t0001g0088 a0001c0002t0002g0049 a0001c0002t0008g0348 a0001c0002t0010g0298 a0001c0002t0028g0043 a0001c0002t0028g0073 a0001c0002t0080g0155 a0001c0005t0003g0028 a0001c0005t0003g0030 a0001c0005t0003g0047 a0001c0005t0003g0174 a0001c0005t0003g0352 a0001c0005t0003g0365 a0001c0005t0004g0024 a0001c0005t0004g0025 a0001c0005t0004g0026 a0001c0005t0004g0027 a0001c0005t0004g0029 a0001c0005t0004g0031 a0001c0005t0004g0032 a0001c0005t0004g0045 a0001c0005t0004g0046 a0001c0005t0004g0169 a0001c0005t0004g0277 a0001c0005t0004g0339 a0001c0005t0004g0343 a0001c0005t0004g0346 a0001c0005t0004g0349 a0001c0005t0004g0350 a0001c0005t0004g0371 a0001c0005t0042g0347 a0001c0005t0043g0136 a0001c0005t0043g0142 a0001c0005t0044g0351 a0001c0009t0081g0265 a0001c0013t0003g0141 a0002c0004t0001g0171 a0002c0004t0001g0211 a0002c0004t0001g0212 a0002c0004t0001g0278 a0002c0004t0005g0038 a0002c0004t0008g0036 a0002c0004t0009g0035 a0002c0004t0012g0022 a0002c0004t0019g0039 a0002c0004t0026g0260 a0002c0004t0026g0261 a0002c0004t0027g0041 a0002c0004t0035g0072 a0002c0004t0035g0262 a0002c0004t0054g0248 a0002c0004t0056g0264 a0002c0004t0060g0263 a0002c0004t0061g0033 a0002c0006t0003g0002 a0002c0006t0003g0273 a0002c0006t0003g0280 a0002c0006t0003g0283 a0002c0006t0004g0002 a0002c0006t0004g0281 a0002c0006t0004g0282 a0002c0006t0004g0284 a0003c0003t0001g0013 a0003c0003t0001g0052 a0003c0003t0001g0096 a0003c0003t0001g0170 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0249 a0003c0003t0001g0308 a0003c0003t0009g0137 a0004c0010t0038g0058 a0005c0011t0018g0103 a0006c0012t0020g0057	149	406	0.3670	-640	c.211 others(19): Show c.211-16397_211-15758del	SLC25A37	ENSG00000147454.14	transcript	ENST00000519973.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
THEG_chr19_356747_381026	361080	GTTTGACT others(633): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGT CGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGA CGGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGT CGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGT TTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAG GAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCG TGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGA CTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCAGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02895.hp1 HG02897.hp1 HG01175.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0196 a0001c0001t0001g0222 a0001c0001t0001g0223	3	370	0.0081	-640	c.48 others(10): Show c.480_*1119del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		666		chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289489	TCCCGTGT others(632): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0108 a0001c0016t0002g0108	1	295	0.0034	-639	c.34 others(11): Show c.3436_*4074del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2901		chr1	TogoVar
CD7_chr17_82309873_82322608	82318737	ACGTGTGT others(632): Show ACGTGTGTGCAGAGACGGGTGCACTTGACTCCATGCGTGTGTGCAGAGAC GGGTGCGTGTGGACACGCGTGTGTGCAGAGACGGGTGTGTGTGGACACGC ATGTGCAGAGACGGGTGCGTGTGAACACGTGTGTGTGCAGATGGGTGCGC ATGACTCCACGCGTGTGTGCAGAGACGGATGTGTGTGGACACGCGTGTGT GCAGAGACGGGTGTGTGTGGACACGCATGTGCAGAGACGGGTGTGTGTGG ACACTTTGTGCAGAGACGGGTGCGCGTGACTCCATGCGTGTGTGCAGAGA CGGGTGCGTGTGGACACGCGGGTGTGCAGAGACGGGTGCGTGTGGACACG TGCGTGTGTAGAGACGTGTGCGTGTGGACGTGCGTGTGCAGAGACGGGTG TGTGGACACTTGTGTGTGCAGAGACGGGTGCGCGTGACTCCATGCATGTG TGCAGAGACGGGTGCATGTGGACACGCGTGTGTGCAGAGATGGATGTGTG TGGACACGCATGTGCAGAGACGGGTGCGTGTGGACACGTGTGTGTGCAGA GATGGGTGCGCATGACTCCACGCGTGTGTGCAGAGACGGGTGCGCGTGAT TCCACGCATGTGTGTGCAGAGACGGGTGCGTGTGGACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG03195.hp2 HG02717.hp1 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	416	0.0072	-639	c.-18 others(11): Show c.-1881_-1243del	CD7	ENSG00000173762.8	transcript	ENST00000312648.8	protein_coding		1130		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3795188	CCTATCAT others(632): Show CCTATCATGTACAGATATAGATACCTATCATGTACAGATATAGATATATA TCTATCATGTACACATATAGATATATATCTATCATGTACAGATATATATA TCATGTACAGATATATATATCTATCATGTACAGATATAGATATCTATCAT GTAGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAG ATATAGATATCTATCATAGATATAGATATATATCTATCATAGATATAGAT ATATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATAT ATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATCT ATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTATCATGTA CAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCATGTACAGA TATAGATATATACCTATCATGTACAGATATAGATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03195.hp1 HG01884.hp2 HG02280.hp1 HG03195.hp1	a0002 a0002	a0002c0022 a0002c0053 a0002c0054 a0002c0022 a0002c0053 a0002c0054	a0002c0022t0036 a0002c0053t0022 a0002c0054t0079 a0002c0022t0036 a0002c0053t0022 a0002c0054t0079	a0002c0022t0036g0048 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0022t0036g0048 a0002c0053t0022g0041 a0002c0054t0079g0096	3	126	0.0238	-639	c.819 others(19): Show c.819-41785_819-41147del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DUSP11_chr2_73757213_73785103	73784464	GATTTCTT others(632): Show GATTTCTTTCCCCCTATATTCCCAAACAGCTTGGAATAACAGGGAAAGTA TTGAAGTAGAAATCCAGAGACCTCATTTCAGTTTTGGCTTTGACATTTAC TAGCTGTGTGACTTTAGATAACTTTTATTCTCTCACAAAATCTGTTTCCT CATCTATTACACTAGGATAATAGACTGGTTATTCCCCCTGGCCCTTTTCT TTTCTAATACTGAGTCTTAAAGGGTATACGTATAGAAAATGAAATCAGAG ACTTTCTGAGAGTGTTCATTTCAACAGAAACAGAGAAAAAACCAAAGTGG TCTAGAAAACTAGCAATATATTCTGAGATGTTTCATGTGTAATAGCCTCC CTCCACTAATATTTCAACTTTCGTATTTTAAATTTAGTGATGTTTAGTGA TGTTTTAAATAATATTCAGCCAGGCACGGTGGCTCACACCTGTAATCTCA GCACTTTGGGAGGCCATCTCCCTCACTAATATTTCAACTTTCCTATTTTA AATTTAGTGATGTTTACTGATGTGTAGTGATGTTTTTAATATTCAGTTGG GCGTGGTAGCTCATGCCTGCAATGTCAATGCTTTGGGAGCCTGAGGTGGG AGGATCGCTTTGGGCCTAGGAGTTCCCGGCCAGTCTGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA20300.hp2 HG02723.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	2	386	0.0052	-639	c.-51 others(11): Show c.-5129_-4491del	DUSP11	ENSG00000144048.11	transcript	ENST00000272444.8	protein_coding		4362		chr2	TogoVar
FGF10_chr5_44295247_44394420	44344276	TATGGATT others(632): Show TATGGATTCATGCTTGAATGGGGATAAATTCAGGCAGATGATAATACCAT GTCTGAATAAAGACAAACTGTTAGGAAAATAGCATTTTAAGCAATTGTAT TTGTTACTAGGGTACTATAAAAACCACAAGATGTGTCATTTGAAAGTTGT TAAAAAGATTAAATGAATTTTTTTATTACAAAATTTCAAACAAACAGTAA AAATATCAGATTTGAGATGAGTTATAGTTGGGGCAAAAGTTAACCTTTTT TTTTTCCTTTACCAAAATTAGGGTTTTACTGTTTTGTTTTCTCTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAACCAACTCTCTGACCCACT TCTGCTTCCAGGGTCAAATATTTTGCATTTCCAATACTCAGGATTGAGAG AGTACAAGTTTTCCTTCATGATGATTTTCTGTGGAACATTTGCTAATAAT AACTAAGTTTCAGCATTGTTATGATTTTATAGTATGTACTGGGTCAGTGG TTTCTAGGGGTCAGTAAAAGAAAGGAAGTTTTGGAACTTTCAAAGGATTT CATTTGAAAAAATAACTTTTCGAATTTGGATAATAGCACTTGTATATTCC TTGTAGTTTCCCTGATTCAAGGCAATAAGCAGTATATACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0061 a0001c0001t0059g0061	1	350	0.0029	-639	c.326 others(19): Show c.326-34385_326-33747del	FGF10	ENSG00000070193.5	transcript	ENST00000264664.5	protein_coding	1/2			chr5	TogoVar
RNF213_chr17_80255852_80403794	80314358	GAGGTGAT others(632): Show GAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGT GGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA TGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTG GAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGG TGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTG ATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGG TACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTG GTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTAC TGGAGGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGAGGTGATG GTGGTCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0048 a0048	a0048c0091 a0048c0091	a0048c0091t0018 a0048c0091t0018	a0048c0091t0018g0289 a0048c0091t0018g0289	1	292	0.0034	-639	c.281 others(19): Show c.2811+1201_2811+1839del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 10000 hits)