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
PCGF3_chr4_700832_775089	744874	GGGGTCGC others(277): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	366	0.0027	-284	c.462 others(15): Show c.462+190_462+473del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745382	CCCGGGGG others(277): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0139 a0001c0003t0005g0139	1	366	0.0027	-284	c.462 others(15): Show c.462+697_462+980del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745923	GCCGTGGA others(277): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0101	1	366	0.0027	-284	c.462 others(17): Show c.462+1267_462+1550del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746805	CCCGGGGG others(277): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	366	0.0027	-284	c.462 others(17): Show c.462+2120_462+2403del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747318	CCCGGGGG others(277): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTA GTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01123.hp2 others(7): Show HG00323.hp1 HG01074.hp1 HG01123.hp2 HG01361.hp1 HG02293.hp1 HG03041.hp1 HG04204.hp2 NA18942.hp2 NA18963.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0041 a0001c0003t0054 others(2): Show a0001c0001t0001 a0001c0001t0041 a0001c0003t0054 a0002c0002t0001 a0002c0002t0018	a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0205 others(7): Show a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0297 a0001c0001t0041g0202 a0001c0003t0054g0134 a0002c0002t0001g0229 a0002c0002t0001g0234 a0002c0002t0018g0227	10	366	0.0273	-284	c.462 others(17): Show c.462+2633_462+2916del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLCG2_chr16_81774291_81967685	81866385	ATGAGAGG others(277): Show ATGAGAGGACGCTGGCCTCTCCCTTGCTCCCAGGATGAGCTCCACTGGGG CACCAGCATGAGAGGACGCTAGCCTCTCCCTTTCTCCCAGGATGGTCTCC ACTGGGGCACCAGCATGAGAGGACGCTGGCCTCTCCCTTGCTCCCAGGAT GAGCTCCACTGGGGCACCAGCATGAGAGGACGTGGCCTCTCCCTTGCTCC CAAGATGAGCTCCACTGGGGCACTAGCATGAGAGGATGCTGGCCTCTCCC TTGCTCCCAGGATGAGCTCCACTGGGGCACCAGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG02922.hp1 HG02976.hp2 HG03453.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0015 a0016 a0020 a0022	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0028 a0001c0045 a0001c0057 a0001c0058 a0001c0059 a0001c0061 a0001c0077 a0002c0029 a0003c0034 a0006c0036 a0007c0046 a0008c0030 a0009c0027 a0015c0071 a0016c0048 a0020c0050 a0022c0052	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 others(70): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0001t0045 a0001c0001t0053 a0001c0001t0055 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0027 a0001c0003t0059 a0001c0003t0071 a0001c0003t0072 a0001c0003t0075 a0001c0004t0002 a0001c0004t0003 a0001c0004t0008 a0001c0004t0027 a0001c0004t0049 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0008t0006 a0001c0008t0028 a0001c0009t0003 a0001c0009t0020 a0001c0010t0002 a0001c0010t0003 a0001c0010t0030 a0001c0010t0047 a0001c0010t0054 a0001c0011t0002 a0001c0012t0003 a0001c0012t0020 a0001c0013t0001 a0001c0013t0004 a0001c0013t0015 a0001c0014t0034 a0001c0014t0060 a0001c0015t0003 a0001c0015t0081 a0001c0017t0008 a0001c0018t0002 a0001c0019t0002 a0001c0020t0003 a0001c0020t0006 a0001c0020t0079 a0001c0028t0083 a0001c0045t0002 a0001c0057t0003 a0001c0058t0021 a0001c0059t0006 a0001c0061t0010 a0001c0077t0003 a0002c0029t0002 a0003c0034t0007 a0006c0036t0001 a0007c0046t0078 a0008c0030t0003 a0009c0027t0011 a0009c0027t0017 a0015c0071t0005 a0016c0048t0001 a0020c0050t0004 a0022c0052t0001	a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0104 others(115): Show a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0186 a0001c0001t0001g0251 a0001c0001t0001g0286 a0001c0001t0004g0046 a0001c0001t0004g0056 a0001c0001t0004g0060 a0001c0001t0004g0267 a0001c0001t0004g0281 a0001c0001t0004g0321 a0001c0001t0020g0282 a0001c0001t0045g0027 a0001c0001t0053g0192 a0001c0001t0055g0034 a0001c0001t0061g0288 a0001c0001t0063g0061 a0001c0001t0065g0291 a0001c0002t0001g0212 a0001c0002t0007g0117 a0001c0002t0007g0119 a0001c0002t0008g0105 a0001c0002t0008g0132 a0001c0002t0011g0054 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0126 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0001g0315 a0001c0003t0002g0127 a0001c0003t0003g0044 a0001c0003t0003g0200 a0001c0003t0004g0277 a0001c0003t0027g0272 a0001c0003t0059g0193 a0001c0003t0071g0083 a0001c0003t0072g0187 a0001c0003t0075g0043 a0001c0004t0002g0047 a0001c0004t0003g0052 a0001c0004t0003g0205 a0001c0004t0008g0112 a0001c0004t0027g0330 a0001c0004t0049g0328 a0001c0005t0001g0114 a0001c0006t0001g0226 a0001c0006t0001g0230 a0001c0008t0001g0030 a0001c0008t0001g0067 a0001c0008t0001g0252 a0001c0008t0001g0266 a0001c0008t0001g0276 a0001c0008t0001g0289 a0001c0008t0006g0124 a0001c0008t0006g0290 a0001c0008t0028g0303 a0001c0009t0003g0037 a0001c0009t0003g0085 a0001c0009t0003g0086 a0001c0009t0003g0309 a0001c0009t0020g0264 a0001c0010t0002g0250 a0001c0010t0003g0196 a0001c0010t0030g0003 a0001c0010t0030g0292 a0001c0010t0047g0113 a0001c0010t0054g0025 a0001c0011t0002g0033 a0001c0011t0002g0253 a0001c0011t0002g0261 a0001c0011t0002g0262 a0001c0011t0002g0263 a0001c0011t0002g0280 a0001c0012t0003g0164 a0001c0012t0003g0217 a0001c0012t0020g0147 a0001c0013t0001g0148 a0001c0013t0004g0141 a0001c0013t0004g0284 a0001c0013t0015g0145 a0001c0014t0034g0245 a0001c0014t0060g0140 a0001c0015t0003g0024 a0001c0015t0003g0297 a0001c0015t0081g0063 a0001c0017t0008g0015 a0001c0018t0002g0159 a0001c0018t0002g0235 a0001c0019t0002g0146 a0001c0020t0003g0218 a0001c0020t0006g0220 a0001c0020t0079g0225 a0001c0028t0083g0120 a0001c0045t0002g0199 a0001c0057t0003g0319 a0001c0058t0021g0068 a0001c0059t0006g0064 a0001c0061t0010g0224 a0001c0077t0003g0329 a0002c0029t0002g0310 a0002c0029t0002g0317 a0003c0034t0007g0165 a0003c0034t0007g0216 a0006c0036t0001g0231 a0006c0036t0001g0232 a0007c0046t0078g0308 a0008c0030t0003g0066 a0008c0030t0003g0079 a0009c0027t0011g0324 a0009c0027t0017g0298 a0015c0071t0005g0115 a0016c0048t0001g0190 a0020c0050t0004g0137 a0022c0052t0001g0109	118	330	0.3576	-284	c.480 others(17): Show c.480-2792_480-2509del	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PPP6R2_chr22_50338327_50450090	50397548	GGGGGCCT others(277): Show GGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02071.hp2 HG02257.hp2 others(15): Show HG01255.hp2 HG02071.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02886.hp2 HG03139.hp2 HG03516.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18993.hp1 NA18999.hp2 NA19091.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0006 a0004c0009 others(1): Show a0001c0002 a0003c0006 a0004c0009 a0004c0015	a0001c0002t0009 a0001c0002t0023 a0003c0006t0002 others(6): Show a0001c0002t0009 a0001c0002t0023 a0003c0006t0002 a0003c0006t0007 a0003c0006t0008 a0003c0006t0009 a0004c0009t0004 a0004c0009t0008 a0004c0015t0008	a0001c0002t0009g0125 a0001c0002t0023g0124 a0003c0006t0002g0080 others(15): Show a0001c0002t0009g0125 a0001c0002t0023g0124 a0003c0006t0002g0080 a0003c0006t0002g0103 a0003c0006t0002g0104 a0003c0006t0002g0107 a0003c0006t0007g0111 a0003c0006t0008g0215 a0003c0006t0009g0105 a0003c0006t0009g0106 a0003c0006t0009g0108 a0003c0006t0009g0109 a0004c0009t0004g0010 a0004c0009t0004g0011 a0004c0009t0008g0112 a0004c0009t0008g0113 a0004c0015t0008g0114 a0004c0015t0008g0115	18	340	0.0529	-284	c.227 others(17): Show c.227+3418_227+3701del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
SDHA_chr5_213320_262082	258739	TCCGAGCA others(277): Show TCCGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCCCCTGCCAG AGCATTACTGTGAGCTCCTTCTCCTCTCAGAGCCTTGCCGTGAGCTCCGC CCTCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG02738.hp1 others(3): Show HG00639.hp1 HG01256.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0046 others(1): Show a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0002g0083	6	266	0.0226	-284	c.23 others(11): Show c.2320_*2603del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1658		chr5	TogoVar
SDHA_chr5_213320_262082	259457	AGCTCCGC others(277): Show AGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGC CTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTAC CGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0030 a0001c0010t0002g0030	1	266	0.0038	-284	c.30 others(11): Show c.3038_*3321del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2376		chr5	TogoVar
SDHA_chr5_213320_262082	259745	AGCTCCGC others(277): Show AGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTAC CGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	2	266	0.0075	-284	c.33 others(11): Show c.3326_*3609del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2664		chr5	TogoVar
SLC2A13_chr12_39750025_40111081	39896288	ATATGTGT others(277): Show ATATGTGTGTATATATGTATACATATATGTATGTATATGTGTATATATGT ATACATATATGTATGTATATGTGTATATATGTATACATATATGTATGTAT ATGTGTATATATGTATACATATATGTATGTATATGTGTATATATGTATAC ATATATGTATATGTGTGTATATATGTATACATATATGTATATGTGTATAT ATGTACACATATATGTATGTACATGTGTGTATACATGTATACATGTATGT ATGTATGTGTGTATACATGTATACATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0149 a0001c0001t0023g0149	1	214	0.0047	-284	c.103 others(21): Show c.1035-24611_1035-24328del	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLX9_chr21_44935029_44981973	44981532	TGGGCCCT others(277): Show TGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCGGGG CCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGAC AGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACG GGGGACAGCGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGT GTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGC GTGTGGTGTTCAGGGGGGACAGCGGGGCCCGGACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	334	0.0030	-284	c.47 others(11): Show c.4730_*5013del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4560		chr21	TogoVar
SMOX_chr20_4143828_4192727	4185397	TAGAAATG others(277): Show TAGAAATGCAGATTCTCAGCCTGGCCAACATGGCGAAACCCTGTCTCTAC TAAAAATACAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTTCTAGC TACTTGGGAGGCTGAGGCATGAGAATTGCTTGAAGCTGGGAGGCGGAGGT TGCAGTGAGTTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGCG AGACCCTGTCTCAAAACAAAAACCAAAAAACAACAACCCCTGGCGCCCTA AACACACACACACACAAATAAATAAATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(117): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp2 NA18960.hp2 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19065.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0003 a0004c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0018 others(110): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0401 a0001c0002t0001g0373 a0001c0002t0002g0332 a0001c0002t0002g0342 a0001c0003t0001g0004 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0065 a0001c0003t0001g0071 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0098 a0001c0003t0001g0102 a0001c0003t0001g0120 a0001c0003t0001g0123 a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0159 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0187 a0001c0003t0001g0209 a0001c0003t0001g0215 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0234 a0001c0003t0001g0246 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0262 a0001c0003t0001g0264 a0001c0003t0001g0278 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0311 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0001g0317 a0001c0003t0001g0318 a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0001g0365 a0001c0003t0001g0367 a0001c0003t0001g0368 a0001c0003t0001g0370 a0001c0003t0001g0371 a0001c0003t0001g0379 a0001c0003t0001g0380 a0001c0003t0001g0388 a0001c0003t0001g0390 a0001c0003t0001g0391 a0001c0003t0001g0392 a0001c0003t0001g0395 a0001c0003t0001g0396 a0001c0003t0003g0336 a0001c0004t0001g0261 a0001c0006t0001g0038 a0001c0006t0001g0355 a0001c0006t0001g0359 a0001c0006t0001g0360 a0001c0006t0001g0363 a0001c0007t0001g0181 a0001c0007t0001g0276 a0001c0007t0001g0286 a0001c0007t0001g0309 a0001c0008t0001g0023 a0001c0008t0001g0036 a0001c0008t0001g0183 a0001c0008t0003g0349 a0004c0013t0001g0021	120	428	0.2804	-284	c.153 others(19): Show c.1531-1577_1531-1294del	SMOX	ENSG00000088826.18	transcript	ENST00000305958.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNRPD3_chr22_24550999_24579971	24560431	TTTTTTTT others(277): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGTCTCACTCT GTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCT GCCTCCTGGGTTCAAGCACTTCTCATGCCTCAGCCTCCTGAGTAGCTGGG ACTATGCCCAGCTAGTTTTTCGTATTTTTAGTAGAGATAGGGTTTCCCCA TGTTGCCCAGGCTGGTCTCAAACTCCTGAGTTTGCCTCAGCCTCCCAAGT GCTAGGATTACAGGCGTGAGCCACTGCACCTGGCC	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0174 a0001c0002t0003g0174	1	400	0.0025	-284	c.126 others(17): Show c.126+2662_126+2945del	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SORCS2_chr4_7187538_7747827	7363429	TATCATCA others(277): Show TATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTC ACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGT ATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATCATCATCA CCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTCACCATAAC CATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGTATCACCAT TACCATCACCGTCACCATAACCATGCCTCACCATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01070.hp1 others(27): Show HG00099.hp1 HG00323.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG02040.hp1 HG02055.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02630.hp1 HG03239.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18962.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0031 a0001c0033 a0001c0034 a0001c0051 a0002c0004 a0006c0018	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(25): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0058 a0001c0002t0061 a0001c0002t0065 a0001c0002t0067 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0064 a0001c0006t0001 a0001c0011t0016 a0001c0011t0017 a0001c0031t0026 a0001c0033t0075 a0001c0034t0009 a0001c0051t0001 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0024 a0006c0018t0059	a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0006g0055 others(27): Show a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0006g0055 a0001c0001t0008g0142 a0001c0001t0013g0125 a0001c0001t0018g0011 a0001c0002t0003g0131 a0001c0002t0005g0069 a0001c0002t0007g0008 a0001c0002t0058g0019 a0001c0002t0061g0121 a0001c0002t0065g0004 a0001c0002t0067g0115 a0001c0003t0001g0081 a0001c0003t0003g0088 a0001c0003t0005g0079 a0001c0003t0064g0005 a0001c0006t0001g0054 a0001c0011t0016g0076 a0001c0011t0017g0120 a0001c0031t0026g0144 a0001c0033t0075g0160 a0001c0034t0009g0093 a0001c0051t0001g0068 a0002c0004t0003g0095 a0002c0004t0006g0136 a0002c0004t0008g0060 a0002c0004t0008g0078 a0002c0004t0024g0057 a0006c0018t0059g0145	30	168	0.1786	-284	c.481 others(19): Show c.481-32480_481-32197del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7386301	CATACACA others(277): Show CATACACATTTGCACACACGCACACATATGCCCACCATACACATGAACAC ATGCACACACAGATACACAGAAATACATGCACACACACATGGACATACAC ATATGTACACACGCACACATGCACACACATACAGGTACACAGAGATACAC ATGTGCACGCACACACATGCACACACATACACATTTGCACACACGCACAC ACATGCCCACCATACACATGCACACATGCACACACATACAGGTACACAGA GATACACACGCACATGCACACACATGCACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02258.hp2 HG01123.hp2 HG02258.hp2	a0001 a0018 a0001 a0018	a0001c0002 a0018c0055 a0001c0002 a0018c0055	a0001c0002t0061 a0018c0055t0048 a0001c0002t0061 a0018c0055t0048	a0001c0002t0061g0121 a0018c0055t0048g0150 a0001c0002t0061g0121 a0018c0055t0048g0150	2	168	0.0119	-284	c.481 others(17): Show c.481-9985_481-9702del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7387090	GATACACA others(277): Show GATACACATGCACATACATACACATATGCACACACATACAGGTACACAGA GATACACACATATGCACACATGCACACACACATGCCCACCATACACATGC ACACATGCACACACAGATACACAGAAATACACACATGCACACACACATAG GTACATGCATGCACACATGCACACACAGATACAGAGATACACATGCACAT ACATACACATATGCACACACATACAGGTACACAGAGATACACACATATGC ACACATGCACACACACATGCACACACATGCCCACC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(68): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19000.hp2 NA19240.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0009 a0013 a0014 a0017 a0018	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0026 a0001c0030 a0001c0031 a0001c0034 a0001c0036 a0001c0038 a0001c0041 a0001c0048 a0001c0051 a0002c0004 a0002c0050 a0003c0013 a0003c0035 a0006c0018 a0006c0021 a0009c0025 a0013c0032 a0014c0024 a0017c0054 a0018c0055	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(60): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0035 a0001c0002t0041 a0001c0002t0053 a0001c0002t0054 a0001c0002t0058 a0001c0002t0061 a0001c0002t0067 a0001c0003t0003 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0015 a0001c0005t0004 a0001c0005t0023 a0001c0006t0001 a0001c0006t0002 a0001c0006t0017 a0001c0006t0066 a0001c0009t0029 a0001c0010t0073 a0001c0011t0016 a0001c0011t0017 a0001c0011t0060 a0001c0014t0034 a0001c0026t0062 a0001c0030t0040 a0001c0031t0026 a0001c0034t0009 a0001c0036t0044 a0001c0038t0038 a0001c0041t0013 a0001c0048t0001 a0001c0051t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0012 a0002c0004t0024 a0002c0050t0045 a0003c0013t0033 a0003c0035t0007 a0006c0018t0059 a0006c0021t0070 a0009c0025t0031 a0013c0032t0030 a0014c0024t0049 a0017c0054t0022 a0018c0055t0048	a0001c0001t0003g0053 a0001c0001t0005g0067 a0001c0001t0006g0111 others(68): Show a0001c0001t0003g0053 a0001c0001t0005g0067 a0001c0001t0006g0111 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0012g0137 a0001c0001t0017g0003 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0002t0001g0087 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0003g0131 a0001c0002t0005g0069 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0007g0008 a0001c0002t0010g0045 a0001c0002t0035g0090 a0001c0002t0041g0096 a0001c0002t0053g0082 a0001c0002t0054g0050 a0001c0002t0058g0019 a0001c0002t0061g0121 a0001c0002t0067g0115 a0001c0003t0003g0088 a0001c0003t0005g0079 a0001c0003t0009g0086 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0015g0140 a0001c0005t0004g0101 a0001c0005t0023g0032 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0006t0017g0117 a0001c0006t0066g0084 a0001c0009t0029g0038 a0001c0010t0073g0167 a0001c0011t0016g0076 a0001c0011t0017g0120 a0001c0011t0060g0107 a0001c0014t0034g0040 a0001c0026t0062g0049 a0001c0030t0040g0109 a0001c0031t0026g0144 a0001c0034t0009g0093 a0001c0036t0044g0022 a0001c0038t0038g0128 a0001c0041t0013g0031 a0001c0048t0001g0146 a0001c0051t0001g0068 a0002c0004t0002g0127 a0002c0004t0003g0012 a0002c0004t0003g0046 a0002c0004t0006g0136 a0002c0004t0008g0060 a0002c0004t0008g0078 a0002c0004t0012g0035 a0002c0004t0024g0057 a0002c0004t0024g0114 a0002c0050t0045g0132 a0003c0013t0033g0041 a0003c0035t0007g0075 a0006c0018t0059g0145 a0006c0021t0070g0103 a0009c0025t0031g0025 a0013c0032t0030g0149 a0014c0024t0049g0108 a0017c0054t0022g0113 a0018c0055t0048g0150	71	168	0.4226	-284	c.481 others(17): Show c.481-9184_481-8901del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SSH2_chr17_29620938_29935228	29895558	ATATTTTA others(277): Show ATATTTTATATATACATTTTATATATGAAATATATAAAATATATTTTATA TATACATTTTATATATGAAATATATAAAATATATTTTATATACACATTTT ATATATGAAATATATAAAATATATTTTATATACACATTTTATATATGAAA TATATAAAATATATTTTATATACACATTTCATATATAAAATGTATTTTAT ATACACATTTCATGTATAAAATGTATTTTATATACACATTTCATGTATAA AATGTATTTTATATACACATTTCATGTATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20129.hp2 HG02895.hp1 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0075 a0001c0006t0017g0076 a0001c0006t0017g0075 a0001c0006t0017g0076	2	232	0.0086	-284	c.63+ others(17): Show c.63+34096_63+34379del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
TMCO3_chr13_113486021_113555229	113541900	GGATGATA others(277): Show GGATGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGA GATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTA CCGCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGC TTTATTACCGCCGAGATGTGTGGATGATACGCACACGGTCGCTGATCACT GCCATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGGTCGCT GATCACTGCCATGCTTTATTACCGCCGAGATGTGT	G G	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0267 a0002c0003t0003g0267	1	368	0.0027	-284	c.169 others(19): Show c.1690+2395_1690+2678del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM63C_chr14_77176798_77264495	77220918	GCCTCCTC others(277): Show GCCTCCTCTCCCACCCACGCCTCCCCTCCCACTCTCGCCTCCCCTCCCAC TCTCGCCTCCCCTCCCACCCACGCCCCCTCCCACTCTCGCCTCCCCTCCC ACTCTCGCCTCCCCTCCCACCCACGCCCCCTCACACTCACGCCTCCCCTC CCACTCTCGCCTCCCCTCCCACTCATGCCCTGCCTCCCACTCACGCCTCC TCTCTCACTTACACCCCACCTCCCACTCACGCCTCCCCTCCCACTCATGC CCCACCTCCCACTCACACCTCCTCTCTCATTCACA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0315 a0001c0001t0036g0315	1	322	0.0031	-284	c.312 others(16): Show c.312+834_312+1117del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
USP40_chr2_233470526_233571782	233567534	CTATATAA others(277): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	324	0.0031	-284	c.-11 others(10): Show c.-1154_-871del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		753		chr2	TogoVar
USP40_chr2_233470526_233571782	233567560	CTATATAA others(277): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 NA18967.hp1 NA18977.hp1 HG01261.hp1 NA18967.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0198 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0198	3	324	0.0093	-284	c.-11 others(10): Show c.-1180_-897del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		779		chr2	TogoVar
USP40_chr2_233470526_233571782	233567586	CTATATAA others(277): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03942.hp1 HG02886.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0179 a0002c0002t0001g0293 a0001c0001t0001g0179 a0002c0002t0001g0293	2	324	0.0062	-284	c.-12 others(10): Show c.-1206_-923del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		805		chr2	TogoVar
USP40_chr2_233470526_233571782	233567612	CTATATAA others(277): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02698.hp2 HG03516.hp1 others(1): Show HG01109.hp2 HG02698.hp2 HG03516.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0002 a0001c0001 a0001c0014 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0014t0005 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0014t0005 a0002c0002t0001	a0001c0001t0001g0269 a0001c0001t0007g0298 a0001c0014t0005g0301 others(1): Show a0001c0001t0001g0269 a0001c0001t0007g0298 a0001c0014t0005g0301 a0002c0002t0001g0284	4	324	0.0124	-284	c.-12 others(10): Show c.-1232_-949del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		831		chr2	TogoVar
USP40_chr2_233470526_233571782	233567638	CTATATAA others(277): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18969.hp2 NA18988.hp1 others(2): Show NA18953.hp2 NA18969.hp2 NA18988.hp1 NA19009.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0007 a0003c0003t0001 others(1): Show a0001c0001t0005 a0001c0001t0007 a0003c0003t0001 a0003c0003t0002	a0001c0001t0005g0308 a0001c0001t0007g0300 a0003c0003t0001g0170 others(2): Show a0001c0001t0005g0308 a0001c0001t0007g0300 a0003c0003t0001g0170 a0003c0003t0002g0144 a0003c0003t0002g0152	5	324	0.0154	-284	c.-12 others(10): Show c.-1258_-975del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		857		chr2	TogoVar
USP40_chr2_233470526_233571782	233567664	CTATATAA others(277): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA18947.hp2 HG02132.hp2 NA18947.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0002 a0001c0001t0005 a0003c0003t0002	a0001c0001t0005g0311 a0003c0003t0002g0143 a0001c0001t0005g0311 a0003c0003t0002g0143	2	324	0.0062	-284	c.-12 others(11): Show c.-1284_-1001del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		883		chr2	TogoVar
ADARB2_chr10_1172313_1742525	1235922	GGACTGTG others(276): Show GGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAA GGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGG GAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACC CAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCT GTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTC TGCCCCATCGGAGTGGGCGCTGAACGAACATGCC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0072 a0001c0001t0036g0072	1	106	0.0094	-283	c.136 others(19): Show c.1362-2360_1362-2078del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
BABAM2_chr2_27885729_28343901	28271406	CTCTCCTC others(276): Show CTCTCCTCGTGGCCTGGGCCCTCACAGGGACAGCTGTGCTTCCAATTCCA GTGACATGACTCTGTCACAGTCTTCAAATAATTTCTAGTTTTCTTTTTCA AAGAAAGAAATTTTGAGAGCTCTGTCCACACATTGTAAAGGAAACAACCC TCTTAAATATCCATGCCCTTTACAGTGAATATTCCATTGACATATTAAAC CAGAGGCAGTCTCATGATTTTGAAAAGGATTTTGGATAAATATAGAAGGC ATGTATCACCCCAAATCCATCCTTTATGGAGTCA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	158	0.0063	-283	c.934 others(19): Show c.934+26546_935-26648del	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf33_chr3_155757617_155811278	155780984	CTAGACTT others(276): Show CTAGACTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGTCCGCCACCGCGCCCGGCTAATTTTTTTTTTTGTATTTTT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG03209.hp2 HG02109.hp1 HG03209.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0002t0002 a0001c0007t0002	a0001c0002t0002g0035 a0001c0002t0002g0042 a0001c0007t0002g0377 a0001c0002t0002g0035 a0001c0002t0002g0042 a0001c0007t0002g0377	3	406	0.0074	-283	c.175 others(17): Show c.175-5419_175-5137del	C3orf33	ENSG00000174928.16	transcript	ENST00000340171.7	protein_coding	2/4			chr3	TogoVar
CAPZA1_chr1_112614832_112676616	112640280	TCTGCCCG others(276): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGAGCCCCCCA CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCAGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTCCTGGGAAGTGAGGAGCCCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00642.hp1 others(42): Show HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18967.hp1 NA18971.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19062.hp1 NA19063.hp2 NA19070.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0005	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0007t0002 a0002c0005t0002	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 others(35): Show a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0147 a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0037 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0003g0111 a0001c0007t0002g0129 a0002c0005t0002g0148 a0002c0005t0002g0149	45	368	0.1223	-283	c.40- others(15): Show c.40-6910_40-6628del	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDK12_chr17_39456486_39539544	39498925	TTCTTTCT others(276): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp2 HG01952.hp1 others(5): Show HG00597.hp2 HG01074.hp2 HG01952.hp1 HG02257.hp1 HG02280.hp1 HG02630.hp2 HG04199.hp1 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0015 a0001c0001t0039 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0039 a0003c0005t0054	a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0173 others(5): Show a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0203 a0001c0001t0001g0229 a0001c0001t0015g0099 a0001c0001t0039g0102 a0003c0005t0054g0252	8	260	0.0308	-283	c.242 others(19): Show c.2420-2323_2420-2041del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHCHD6_chr3_126699240_126965420	126862792	ACCACCTT others(276): Show ACCACCTTCCCCTCTACCACCATCACCAACTCCCCCTCCTCCACCATCAC CACCTCCTCCTCCACCATCACCACCTCCTCCTCCACCATCACTACCTCCT CCTCCTCCACCATCACCACCTCCTCCTCCTCCACCATCACCACCTTCCCC TCTACCACCATCACCAACTCCCCCTCCTCCACCATCACCACCTCCTCCTC CACCATCACCACCTCCTCCTCCACCATCACTACCTCCTCCTCCTCCACCA TCACCACCTCCTCCTCCTCCTCCACCATCATCAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	216	0.0046	-283	c.495 others(19): Show c.495+10064_495+10346del	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST9_chr18_26901481_27190308	27044291	CTCTGATG others(276): Show CTCTGATGTTAAGAACAAGTCCTGGACCATTAAAATATTTATCAAATTGA AAGTACCAACTTATAAATACCTCAGATTCCTTCTCTGCCCCTTTTGTGGT GCCTGAAGTGCTGTCAAGAAAATAGCTTTTATAAGCTACGAACAAGTTAG GATGATAAGCATTTTAAGCTTGATTCTAACTGGAATAATGATTCTCAAAG TGAGAATGAAACATGTAGATATTGCAAAATACCAATGTCCAAAATAATGG GCTTTTCAAGGATAATAGTTTGCTTAAATGTATT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	262	0.0038	-283	c.160 others(17): Show c.160+3891_160+4173del	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	3/5			chr18	TogoVar
CPN2_chr3_194334768_194356328	194347837	GCCCACAC others(276): Show GCCCACACCACCCACTGCCCAGTTCATCCCACCCCATCCGCTGCCCAGTT CAGCCCACCCCATCCTCTGCCCAGTTCAGCCCACACCACCCGCTGCCCAG TTCAGCCCACCACCCCCGCCCAGTTCAGCCCACCCCATCCTCTGCCTAGT TCAGCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCCACCCTCTGCCCA GTTCAGCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCCATCCTCTGCC CAGTTCAGCCCACACCACCCACTGCCCAGTTCAT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG03486.hp2 others(3): Show HG02257.hp1 HG02922.hp1 HG03486.hp2 HG06807.hp2 NA19030.hp1 NA19043.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0004 a0006c0018 a0007c0008 a0003c0004 a0006c0018 a0007c0008	a0003c0004t0004 a0006c0018t0001 a0007c0008t0008 a0003c0004t0004 a0006c0018t0001 a0007c0008t0008	a0003c0004t0004g0098 a0006c0018t0001g0099 a0007c0008t0008g0042 others(2): Show a0003c0004t0004g0098 a0006c0018t0001g0099 a0007c0008t0008g0042 a0007c0008t0008g0096 a0007c0008t0008g0097	6	440	0.0136	-283	c.-4+ others(15): Show c.-4+3122_-4+3404del	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
DDX51_chr12_132131594_132149319	132134791	CCCGAGTG others(276): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCA CTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0008 a0002c0005t0005g0008	1	334	0.0030	-283	c.41 others(11): Show c.4198_*4480del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1802		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134953	CGCTACCT others(276): Show CGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT CTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0077 a0002c0002t0010g0077	1	334	0.0030	-283	c.40 others(11): Show c.4036_*4318del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1640		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135307	GCTCCTCC others(276): Show GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACG GTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTG TGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0038 a0004c0004t0038	a0004c0004t0038g0079 a0004c0004t0038g0079	1	334	0.0030	-283	c.36 others(11): Show c.3682_*3964del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1286		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149036	CGCCGCCT others(276): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-283	c.-50 others(11): Show c.-5023_-4741del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4718		chr12	TogoVar
DGKB_chr7_14140049_14907751	14468489	AGTTTCTT others(276): Show AGTTTCTTCCCTTTAAACTAAATTGATAGTTTACTTATTATGGACTAATT AAAATTATTATATATAATATTATCTATGTAATATATCTGTTACATATATA TATTGTTGTCAGCTTATAAGGAACAATAAATAATTTTCTTTGTGTTTTAA TTTAACAAATACTTCCTGAAAGTTTGCGTGTAGGCATACAAGCTACAACA ATGAGTAGAAATTTTTTCTAAAAGTGGTTTTTTACTGTTTAATACTCTTC CCTATAAGAAAATACTTAAACTTGAATTATTCTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02970.hp1 others(1): Show HG01109.hp1 HG02055.hp2 HG02970.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0034 a0001c0003t0004 a0001c0003t0009 others(1): Show a0001c0002t0034 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001	a0001c0002t0034g0014 a0001c0003t0004g0083 a0001c0003t0009g0004 others(1): Show a0001c0002t0034g0014 a0001c0003t0004g0083 a0001c0003t0009g0004 a0001c0004t0001g0127	4	148	0.0270	-283	c.183 others(19): Show c.1835+9389_1835+9671del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1014698	GCGTGTGT others(276): Show GCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAG ACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGA CGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATG ACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGGCGCCT CCACTGTGTGTGTGACCAGGACAGACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-283	c.73+ others(19): Show c.73+106733_73+107015del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
ENPP6_chr4_184083706_184222873	184219843	GGGAAAGG others(276): Show GGGAAAGGGAAAGGGGAAGGGAAGGAGGAAAAAAAGAATAGAAGGGAAGA AGGGAAAGGAAGAGAAAAAGGGAAGAAAAGCGAAGAAGGGAAGGGAAGGG AAGGGGAGGGGAAGGGAAGGGAGGGAAAGGAAGGGAAGGGAAAGGGTAAG GGGAAGGGGAAGGGAAGGAGGAAAAAAGAATAGAAGGGAAGAAGGGAAAG GAAGAGAAGAAGGGAAGAAAAGCGAAGAAGGGAAGGGAAGGGAAGGGAAG GGGAGGGGAAGGGAAGGGAGGGAAAGAAGGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01099.hp2 others(32): Show HG00639.hp1 HG01070.hp2 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01346.hp2 HG01975.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG06807.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0016 others(1): Show a0001c0002 a0001c0003 a0001c0016 a0002c0001	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(10): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0016 a0001c0016t0025 a0002c0001t0001 a0002c0001t0021 a0002c0001t0026	a0001c0002t0001g0138 a0001c0002t0005g0022 a0001c0002t0005g0023 others(32): Show a0001c0002t0001g0138 a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0008g0027 a0001c0002t0012g0132 a0001c0002t0013g0021 a0001c0003t0003g0009 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0003g0024 a0001c0003t0003g0133 a0001c0003t0004g0010 a0001c0003t0004g0017 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0135 a0001c0003t0007g0019 a0001c0003t0016g0278 a0001c0016t0025g0316 a0002c0001t0001g0008 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0016 a0002c0001t0001g0020 a0002c0001t0001g0028 a0002c0001t0001g0030 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0034 a0002c0001t0001g0131 a0002c0001t0001g0134 a0002c0001t0001g0136 a0002c0001t0021g0018 a0002c0001t0026g0033	35	320	0.1094	-283	c.-23 others(11): Show c.-2307_-2025del	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		1971		chr4	TogoVar
FANCA_chr16_89732549_89821647	89819884	GGTGGCTC others(276): Show GGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGA TCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACGAACATGGAGAAACCC CGTCTCTACTAAAAATACAAAATCAGCCAGGTGTGGTGGTGCATGCCTGT AATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGA GGCGAAGGTTGCAGTAAACCAAGATTGCGCCACTGCACTCCAGCCTGGGC AACTAGAGCAAAACTCTTGTCTTGGCCCGGCGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	334	0.0030	-283	c.-35 others(11): Show c.-3552_-3270del	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding		3238		chr16	TogoVar
FLT4_chr5_180596506_180654600	180635478	GTGGGTGG others(276): Show GTGGGTGGGTGGTGGGATGGAAGTGTGGGTGGATGGGAGGGTGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGTATGGATGGATGGATGGATGGATGGGTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGGTGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03491.hp1 HG03942.hp2 others(3): Show HG00642.hp2 HG03491.hp1 HG03942.hp2 NA18951.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0071 a0001c0001t0006g0344 a0002c0002t0001g0211 others(3): Show a0001c0001t0001g0071 a0001c0001t0006g0344 a0002c0002t0001g0211 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0005g0340	6	388	0.0155	-283	c.59- others(15): Show c.59-3983_59-3701del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26716803	CTCCACCC others(276): Show CTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCC AGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACC CAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTG AGGACCTCCACCCAATGACAGCCCAGCTCTGGGGACATCCACCCAATGAC AGACAGCCCAGCTCTTGGGACCTCCACCCAGCGACAGTCCAGCTCTGGGG ACCTCCCTCCGATGACAGCCCAGCTCTGCGGACA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	204	0.0049	-283	c.240 others(19): Show c.240+55316_240+55598del	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
LHX9_chr1_197912372_197940478	197924893	TTCATCTC others(276): Show TTCATCTCATAATTCGGGGAGTGGGGGAATCCCCTACAGCTTTAGCAATA GGCCTTGGAGAAACAGTCATTTGCAAGTTTATATAATGCATGTGTAGTTA AACATAAATAATATCAGATAATGCACTGTTACTCTGTAGAAGAAATAGCT TTCTCTATTAAGTTGCATAATATGAGATAACAGTCACAGGAAAATCATAT ATAGTAATATCTGTTTAATAAAGACCCAACGAGCTATCTCCTTACATATT GGATTGTGTATTTTATGTGGAAACAGGGCCTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(240): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0003c0006 a0004c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 others(33): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0038 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0017 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0026 a0001c0002t0027 a0001c0002t0034 a0001c0002t0035 a0001c0002t0037 a0001c0002t0039 a0001c0007t0001 a0001c0008t0009 a0003c0006t0001 a0004c0005t0001	a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0012 others(105): Show a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0005g0001 a0001c0001t0005g0007 a0001c0001t0005g0012 a0001c0001t0005g0020 a0001c0001t0005g0057 a0001c0001t0012g0001 a0001c0001t0013g0015 a0001c0001t0015g0018 a0001c0001t0018g0039 a0001c0001t0021g0058 a0001c0001t0023g0068 a0001c0001t0023g0069 a0001c0001t0030g0064 a0001c0001t0038g0001 a0001c0001t0043g0001 a0001c0001t0046g0001 a0001c0001t0047g0062 a0001c0001t0048g0013 a0001c0001t0049g0060 a0001c0001t0050g0053 a0001c0001t0051g0007 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0105 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0151 a0001c0002t0002g0143 a0001c0002t0008g0115 a0001c0002t0009g0005 a0001c0002t0009g0006 a0001c0002t0009g0120 a0001c0002t0016g0003 a0001c0002t0016g0005 a0001c0002t0017g0036 a0001c0002t0017g0046 a0001c0002t0019g0003 a0001c0002t0019g0005 a0001c0002t0020g0085 a0001c0002t0020g0086 a0001c0002t0021g0005 a0001c0002t0026g0141 a0001c0002t0026g0149 a0001c0002t0027g0006 a0001c0002t0034g0035 a0001c0002t0035g0076 a0001c0002t0037g0005 a0001c0002t0039g0003 a0001c0007t0001g0043 a0001c0008t0009g0010 a0003c0006t0001g0003 a0004c0005t0001g0035	243	420	0.5786	-283	c.734 others(17): Show c.734-2697_734-2415del	LHX9	ENSG00000143355.16	transcript	ENST00000367387.6	protein_coding	3/4			chr1	TogoVar
LMF1_chr16_848634_975984	949730	ACGACAGA others(276): Show ACGACAGAGTCAGAGACGACAGAGTCAGAGCCAATGACAGAGTCAGCCAA TGACAGAGTCAGAGCCAACGACAGAGTCAGCCAATGACAGAGTCAGAGAC AACGACAGAGTTAGAGACAACGACAGAGTCAGCCAAGGACAGCGTCAGCC AACGACAGAATCAGAGACAACGACAGAGTCAGCCAACGACAGAGTCAGAG CCAATGAGAGTCAGAGCCAACGACAGAGTCAGAGACGACAGAGTCAGAGC CAACGACAGAGTCAGCCAACGACAGAGTCAGAGC	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0076 a0002c0016t0001g0076	1	294	0.0034	-283	c.503 others(17): Show c.503+4344_503+4626del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MYZAP_chr15_57586904_57690364	57687772	TATATAAT others(276): Show TATATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATA TACACATATATATAATATGTGTGTACAATATACACATATATAATATGTGT GTACAATATACACATATATAATATGTGTGTACAATATACACATATATAAT ATGTGTGTACAATATACACATATATAATATGTGTGTACAATATACACATA TATAATGTGTGTACAATATACACATATATAAATGTGTGTACAATATACAC ATATATAAATGTGTGTACAATATACACATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA19007.hp2 HG02080.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0075 a0002c0002t0002g0051 a0002c0002t0002g0075	2	352	0.0057	-283	c.32 others(11): Show c.3275_*3557del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2409		chr15	TogoVar
NUGGC_chr8_28016964_28088936	28022201	CAGGCTGG others(276): Show CAGGCTGGAGTGCAGTGGCGCGACCTTGGCTCACTGCAACCTATGCCTCC TGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATA GGCACATGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGG GGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCC GCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGAGTGAGCCACCATG CCCAGCGATGTTTAGATGTTTTTGCGGAAGCAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0026 a0001c0009t0026	a0001c0009t0026g0202 a0001c0009t0026g0202	1	406	0.0025	-283	c.83 others(10): Show c.833_*1115del	NUGGC	ENSG00000189233.12	transcript	ENST00000413272.7	protein_coding	19/19	833		chr8	TogoVar
NXN_chr17_794310_984776	948825	CGGCCTCC others(276): Show CGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC GCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCGGGCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCC TCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	242	0.0041	-283	c.360 others(19): Show c.360+30211_360+30493del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OXSR1_chr3_38160537_38260484	38161853	CATATGTC others(276): Show CATATGTCATATATTATGTATATTTCATATACATATGTCATATATTATGT ATATTTCATATACATATGTCATATATTATGTATATTTCATATACATATTT CATATATTATGTATATTTCATATACATATTTCATATATTATGTATATTTC ATATACATATTTCATATATTATGTATATTTCATATACATATTTCATATAT TATGTAATTTCATATACATATTTCATATATTATGTATATTTCATATACAT ATTTCATATATTATGTATATTTCATATACATAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	248	0.0040	-283	c.-40 others(11): Show c.-4023_-3741del	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3683		chr3	TogoVar

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Search Results (Total: 10000 hits)