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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SULT4A1_chr22_43819509_43867513	43834502	CCACCGCG others(329): Show CCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCC GCAGCCACACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTG CTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGC CCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCAC CGCTGCCCTGAGCTTCCCGCACCCACACCGCGTCCCTGTGCTTCCCGCGC CCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTC CCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0088 a0001c0001t0022g0088	1	386	0.0026	-336	c.509 others(16): Show c.509-1104_509-769del		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SULT4A1_chr22_43819509_43867513	43834600	TGCTTCCC others(329): Show TGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCG GCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCC ACCGCTGCCCTGAGCTTCCCGCACCCACACCGCGTCCCTGTGCTTCCCGC GCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCT TCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCCC TGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCG CGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0127 a0001c0001t0006g0139 a0001c0001t0006g0127 a0001c0001t0006g0139	2	386	0.0052	-336	c.509 others(16): Show c.509-1202_509-867del		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SZT2_chr1_43384899_43459247	43391784	TAAAAAAA others(329): Show TAAAAAAATGAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAAAAATACAAAAA ATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATTGTGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(178): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0008 a0012 a0014 a0016 a0019 a0023	a0001c0001 a0001c0006 a0001c0008 others(22): Show a0001c0001 a0001c0006 a0001c0008 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0001c0028 a0001c0032 a0002c0002 a0002c0018 a0002c0019 a0002c0036 a0002c0037 a0002c0038 a0003c0004 a0003c0010 a0004c0003 a0007c0011 a0008c0012 a0012c0022 a0014c0025 a0016c0029 a0019c0026 a0023c0039	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(48): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0006t0011 a0001c0006t0025 a0001c0008t0002 a0001c0009t0013 a0001c0009t0024 a0001c0016t0021 a0001c0017t0002 a0001c0020t0008 a0001c0028t0032 a0001c0032t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0014 a0002c0002t0016 a0002c0002t0018 a0002c0002t0037 a0002c0018t0003 a0002c0019t0003 a0002c0036t0027 a0002c0037t0003 a0002c0038t0003 a0003c0004t0009 a0003c0010t0006 a0003c0010t0028 a0004c0003t0003 a0007c0011t0003 a0008c0012t0002 a0012c0022t0006 a0014c0025t0036 a0016c0029t0002 a0019c0026t0002 a0023c0039t0005	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(155): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0030 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0007g0012 a0001c0001t0007g0053 a0001c0001t0007g0055 a0001c0001t0007g0061 a0001c0001t0007g0065 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0008g0011 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0041 a0001c0001t0011g0032 a0001c0001t0012g0004 a0001c0001t0012g0022 a0001c0001t0013g0033 a0001c0001t0015g0027 a0001c0001t0015g0029 a0001c0001t0015g0097 a0001c0001t0019g0014 a0001c0001t0020g0193 a0001c0001t0020g0194 a0001c0001t0022g0037 a0001c0001t0022g0040 a0001c0001t0023g0094 a0001c0001t0026g0069 a0001c0001t0029g0025 a0001c0001t0030g0031 a0001c0001t0031g0084 a0001c0001t0033g0052 a0001c0001t0034g0096 a0001c0001t0035g0034 a0001c0006t0011g0009 a0001c0006t0011g0024 a0001c0006t0011g0246 a0001c0006t0025g0023 a0001c0008t0002g0068 a0001c0009t0013g0010 a0001c0009t0013g0026 a0001c0009t0024g0028 a0001c0016t0021g0196 a0001c0016t0021g0197 a0001c0017t0002g0002 a0001c0020t0008g0042 a0001c0028t0032g0050 a0001c0032t0002g0083 a0002c0002t0003g0001 a0002c0002t0003g0206 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0003g0238 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0005g0005 a0002c0002t0005g0207 a0002c0002t0005g0213 a0002c0002t0005g0216 a0002c0002t0005g0217 a0002c0002t0005g0227 a0002c0002t0006g0020 a0002c0002t0006g0210 a0002c0002t0006g0211 a0002c0002t0006g0212 a0002c0002t0006g0228 a0002c0002t0014g0001 a0002c0002t0014g0215 a0002c0002t0016g0214 a0002c0002t0016g0222 a0002c0002t0016g0226 a0002c0002t0018g0001 a0002c0002t0037g0021 a0002c0018t0003g0241 a0002c0018t0003g0242 a0002c0019t0003g0239 a0002c0019t0003g0240 a0002c0036t0027g0036 a0002c0037t0003g0250 a0002c0038t0003g0225 a0003c0004t0009g0035 a0003c0004t0009g0200 a0003c0004t0009g0201 a0003c0004t0009g0203 a0003c0004t0009g0204 a0003c0004t0009g0205 a0003c0010t0006g0018 a0003c0010t0028g0202 a0004c0003t0003g0019 a0004c0003t0003g0234 a0004c0003t0003g0235 a0004c0003t0003g0236 a0004c0003t0003g0237 a0004c0003t0003g0247 a0007c0011t0003g0243 a0007c0011t0003g0244 a0007c0011t0003g0251 a0008c0012t0002g0198 a0008c0012t0002g0199 a0012c0022t0006g0233 a0014c0025t0036g0195 a0016c0029t0002g0087 a0019c0026t0002g0066 a0023c0039t0005g0245	181	290	0.6241	-336	c.27+ others(15): Show c.27+1805_27+2140del		SZT2	ENSG00000198198.17	transcript	ENST00000634258.3	protein_coding	1/71					INFO_REALIGN_3_PRIME	chr1	TogoVar
TBC1D3D_chr17_37998976_38019908	38001878	TCCCTTGA others(329): Show TCCCTTGAACTAGGGAAGTGGAGGTTGCAGTGAGCCGAGATCGCACCACT GCACACTCCAGCCTGGCCTAGGCAACAGAGTGAGACTCTGTCTCAAAAAA AAAAAAAAAAAAAAAGAACAGATATGGCTTGGCGCGGTGGCTCACACTTG TAATCCCAGCACTTTGGCAGGCGGAGGCAGGCAGATCACCTGATGTCAGG AGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAA TACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTAG GGAGGCTGAGGCAGGAGAACTGCCTGAACCCGGGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	66	0.0152	-336	c.-22 others(11): Show c.-2254_-1919del		TBC1D3D	ENSG00000274419.7	transcript	ENST00000616101.5	protein_coding					2097		chr17	TogoVar
TBCA_chr5_77686166_77781339	77752521	GTCCGGCT others(329): Show GTCCGGCTTATTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTCTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(127): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0199 others(127): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0003g0307	130	354	0.3672	-336	c.53+ others(17): Show c.53+23348_53+23683del		TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	1/3						chr5	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	TGCTGCCT others(329): Show TGCTGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCA CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCTGCACCCTCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0318 a0001c0002t0004g0318	1	348	0.0029	-336	c.519 others(16): Show c.519+897_519+1232del		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287479	CCCTCCCC others(329): Show CCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCACCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCTGCACCCTCTCTGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCTGCCGCAGCCTCCCCGCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	348	0.0029	-336	c.519 others(16): Show c.519+809_519+1144del		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TPPP_chr5_654862_698352	667979	GAGAGGGG others(329): Show GAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGA GAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACTGGAG AGGGGTCCGCGTGGGCCCCATCAGGGAAGTACCGACAAGCACACGGAGAG GGGTCCGCGTGGGCCCCGTCAGGGAAGTACCGACAAGCACACGGAGAGGG GTCCGCGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGAGGGGG CCGTGTGGGCGCCGTCAGGGAAGTGCGGACAAGCACACGGAGAGGGGTCC GCGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	409	0.0024	-336	c.312 others(17): Show c.312-2192_312-1857del		TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3						chr5	TogoVar
TRIML1_chr4_188134441_188152743	188151373	GGGGGTGA others(329): Show GGGGGTGAGAAGGGGAATGAGAGTGGGGGTGAGAGGGGGAGTGAGAGAGG GGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGT TGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	228	0.0044	-336	c.40 others(11): Show c.4002_*4337del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					3631		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097278	TATGTACA others(329): Show TATGTACATATATGTGTATATATACATATACATATATACACACGTGTATA TATACATATACATATATACACACGTGTGTATATACATATACATATATACA CACGTGTGTATATACATATACATATGTACACACGTGTGTATATATACATA TGTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATACA TATGTACACACGTGTGTATATATACATATGTACACACGTGTGTATATATA CATATGTACACACGTGTGTATATATACATATGTACACACGTGTGTATATA TACATATACACACGTGTGTATATATACATATACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	334	0.0030	-336	c.-48 others(11): Show c.-4833_-4498del		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4472		chr20	TogoVar
TSGA10_chr2_98992261_99159942	99136501	CAAAAAAA others(329): Show CAAAAAAAGTATTTCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(202): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0004c0006 a0005c0003 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0007t0003 a0002c0002t0003 a0004c0006t0001 a0005c0003t0001 a0006c0008t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(202): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0003g0010 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0009g0001 a0001c0001t0010g0146 a0001c0001t0011g0106 a0001c0001t0012g0085 a0001c0001t0013g0011 a0001c0007t0003g0153 a0002c0002t0003g0170 a0002c0002t0003g0208 a0004c0006t0001g0016 a0005c0003t0001g0013 a0006c0008t0001g0036	205	324	0.6327	-336	c.-62 others(19): Show c.-620-9661_-620-9326del		TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	1/20						chr2	TogoVar
UBXN2B_chr8_58406361_58456501	58432854	GGTTCAAT others(329): Show GGTTCAATAAATTTGGGATATGCCTAGAAACGTGTCTTTTTAAAAAAGCC TCTATGATAATTTTGACATCCATTGTTGAGAACCACTGCTGTAATGAAAC TTAAATTTTGGTTTTCATTTCATTATTCGTCAATGGTTTGAAATGATCTT TTAGTCAAGTCTTATGGTAATTTTGGTTCTTGAAGGCTCCCCAGTATGAG CCACTTTGGCTAATTAGAATTAATCTAGTTTTAAAATACATATCACATAA TAACTTTTTGCTGAATAATCCTTTGTGAATTTTAACTCACTTGCTATGTA TTTTAGTCATTTACAGGTGGAGGATACAGATTGGGTA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0105 a0004c0006t0004g0105	1	414	0.0024	-336	c.340 others(11): Show c.340-301_374del	p.Ser others(5): Show p.Ser114fs	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	4/8		340/996	114/331		INFO_REALIGN_3_PRIME	chr8	TogoVar
USP40_chr2_233470526_233571782	233567482	CTATATAA others(329): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAA GATTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	324	0.0031	-336	c.-11 others(10): Show c.-1154_-819del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					701		chr2	TogoVar
USP40_chr2_233470526_233571782	233567534	CTATATAA others(329): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02602.hp1 HG03579.hp2 others(1): Show HG00735.hp2 HG02602.hp1 HG03579.hp2 NA18955.hp1	a0002 a0019 a0002 a0019	a0002c0002 a0019c0027 a0002c0002 a0019c0027	a0002c0002t0001 a0019c0027t0012 a0002c0002t0001 a0019c0027t0012	a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0193 others(1): Show a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0193 a0019c0027t0012g0183	4	324	0.0124	-336	c.-12 others(10): Show c.-1206_-871del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					753		chr2	TogoVar
USP40_chr2_233470526_233571782	233567560	CTATATAA others(329): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG02145.hp1 HG02258.hp1 others(2): Show HG01517.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG03471.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0032 a0003c0003 a0002c0002 a0002c0032 a0003c0003	a0002c0002t0001 a0002c0002t0020 a0002c0032t0001 others(1): Show a0002c0002t0001 a0002c0002t0020 a0002c0032t0001 a0003c0003t0002	a0002c0002t0001g0186 a0002c0002t0001g0290 a0002c0002t0020g0291 others(2): Show a0002c0002t0001g0186 a0002c0002t0001g0290 a0002c0002t0020g0291 a0002c0032t0001g0289 a0003c0003t0002g0172	5	324	0.0154	-336	c.-12 others(10): Show c.-1232_-897del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					779		chr2	TogoVar
USP40_chr2_233470526_233571782	233567612	CTATATAA others(329): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA19091.hp1 HG03041.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0202 a0001c0001t0005g0297 a0001c0001t0001g0202 a0001c0001t0005g0297	2	324	0.0062	-336	c.-12 others(10): Show c.-1284_-949del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					831		chr2	TogoVar
USP40_chr2_233470526_233571782	233567638	CTATATAA others(329): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	324	0.0031	-336	c.-13 others(10): Show c.-1310_-975del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					857		chr2	TogoVar
USP40_chr2_233470526_233571782	233567690	CTATATAA others(329): Show CTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0047 a0004c0004t0008g0047	1	324	0.0031	-336	c.-13 others(11): Show c.-1362_-1027del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					909		chr2	TogoVar
VAV2_chr9_133756894_133997324	133827178	CGCCCACT others(329): Show CGCCCACTGGGGCTGACCACTGAGCATGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCA CTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGA GGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGG CTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0061 a0001c0004t0002g0190 a0001c0004t0002g0061 a0001c0004t0002g0190	2	200	0.0100	-336	c.449 others(17): Show c.449+6758_449+7093del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827226	TGCCCACT others(329): Show TGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCG CCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCC CACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACT GAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGA GGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGG CTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	200	0.0050	-336	c.449 others(17): Show c.449+6710_449+7045del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827732	CGGGCATC others(329): Show CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCA TCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCA CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp1 HG02486.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0001c0007 a0002c0001	a0001c0007t0011 a0002c0001t0013 a0001c0007t0011 a0002c0001t0013	a0001c0007t0011g0124 a0002c0001t0013g0168 a0001c0007t0011g0124 a0002c0001t0013g0168	2	200	0.0100	-336	c.449 others(17): Show c.449+6204_449+6539del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827780	CGGGCATC others(329): Show CGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGG GGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGG CATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCAC CACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCA GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02895.hp1 HG02129.hp1 HG02895.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0033 a0002c0001t0004 a0002c0001t0033	a0002c0001t0004g0076 a0002c0001t0033g0165 a0002c0001t0004g0076 a0002c0001t0033g0165	2	200	0.0100	-336	c.449 others(17): Show c.449+6156_449+6491del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827811	GGGCTGAC others(329): Show GGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAG GCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGC TGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTG ACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGAC CACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCA CTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACT GAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01167.hp1 others(1): Show HG00741.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0001 a0001c0002t0002 a0001c0027t0029 a0001c0002t0001 a0001c0002t0002 a0001c0027t0029	a0001c0002t0001g0113 a0001c0002t0002g0007 a0001c0002t0002g0008 others(1): Show a0001c0002t0001g0113 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0027t0029g0150	4	200	0.0200	-336	c.449 others(17): Show c.449+6125_449+6460del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VIPR2_chr7_159023175_159149867	159090253	AGTGACCT others(329): Show AGTGACCTCAGCACAGACATGCTGGGACCACGCACAGGGGCCACCTCCTG CGACCACTGCAATCCCCAGTGACCTCGGCACAGACACGCTGGGACCCACG CACAGGGGCCACCTCTTGTGACCATCACAATCCCCGGTGACCTCAGCAGA GACACACTGGGATCACGCACAGGGGCCACCTATTGTGACTATCACAATCC CCGGTGACCTCAGCACAGACACGCTGGGATCACGCACAGGGGCCACCTCC TGCGACCATTGCAATCCCCGGTGACCTCAGCACAGACACGCTGGGACCAC GCACAGGGGCCACCTCTTGTGACCATCACAATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG00735.hp2 others(58): Show HG00140.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01256.hp1 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18959.hp2 NA18964.hp1 NA18969.hp2 NA18975.hp1 NA19043.hp1 NA19057.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0012 a0001c0013 a0001c0019 a0001c0025 a0001c0027 a0001c0028 a0002c0018 a0002c0024	a0001c0001t0004 a0001c0001t0006 a0001c0001t0032 others(25): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0032 a0001c0002t0008 a0001c0002t0043 a0001c0004t0004 a0001c0004t0007 a0001c0004t0011 a0001c0004t0038 a0001c0005t0006 a0001c0005t0008 a0001c0005t0013 a0001c0005t0019 a0001c0005t0022 a0001c0005t0028 a0001c0009t0007 a0001c0009t0042 a0001c0012t0008 a0001c0012t0041 a0001c0013t0007 a0001c0013t0012 a0001c0019t0007 a0001c0025t0006 a0001c0027t0006 a0001c0028t0057 a0002c0018t0004 a0002c0018t0015 a0002c0024t0050	a0001c0001t0004g0194 a0001c0001t0006g0025 a0001c0001t0032g0193 others(57): Show a0001c0001t0004g0194 a0001c0001t0006g0025 a0001c0001t0032g0193 a0001c0002t0008g0149 a0001c0002t0043g0162 a0001c0004t0004g0002 a0001c0004t0004g0014 a0001c0004t0004g0017 a0001c0004t0004g0178 a0001c0004t0004g0181 a0001c0004t0004g0182 a0001c0004t0004g0183 a0001c0004t0004g0191 a0001c0004t0004g0205 a0001c0004t0004g0206 a0001c0004t0004g0207 a0001c0004t0004g0214 a0001c0004t0004g0291 a0001c0004t0004g0305 a0001c0004t0004g0306 a0001c0004t0004g0307 a0001c0004t0004g0309 a0001c0004t0004g0310 a0001c0004t0004g0311 a0001c0004t0004g0326 a0001c0004t0007g0177 a0001c0004t0011g0012 a0001c0004t0011g0167 a0001c0004t0011g0208 a0001c0004t0011g0316 a0001c0004t0011g0325 a0001c0004t0038g0151 a0001c0005t0006g0076 a0001c0005t0008g0006 a0001c0005t0008g0312 a0001c0005t0008g0313 a0001c0005t0008g0314 a0001c0005t0013g0153 a0001c0005t0013g0174 a0001c0005t0013g0175 a0001c0005t0013g0315 a0001c0005t0019g0329 a0001c0005t0019g0330 a0001c0005t0019g0332 a0001c0005t0022g0228 a0001c0005t0022g0287 a0001c0005t0028g0299 a0001c0009t0007g0152 a0001c0009t0042g0022 a0001c0012t0008g0074 a0001c0012t0041g0264 a0001c0013t0007g0073 a0001c0013t0012g0188 a0001c0019t0007g0069 a0001c0025t0006g0072 a0001c0027t0006g0184 a0001c0028t0057g0331 a0002c0018t0004g0308 a0002c0018t0015g0150 a0002c0024t0050g0071	61	336	0.1816	-336	c.357 others(19): Show c.357+13168_357+13503del		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12						chr7	TogoVar
ZNF468_chr19_52833010_52862619	52840959	GTCACAAA others(329): Show GTCACAAACCTTACATTTGTATGGTTTCTCTCCAGTATGAATCCTCCTGT GTCTTTCCAGGTTTGATTTGCGACTGAAAACTTTGCAACATTCTTCACAT TTGTAAGGTTTCTCTCCACTATGAATCCTCCTATGTCTTTCAAGGTGTGA TTTGCGACTGAAAACTTTGTCACACTCTTCACATTTGTAAGGTTTCTCTC CAGTATGAAGTCTATGATGGCGTGCAAGGGTTGATAGTCGATTAAAAACT TTGCCACATTCATTACATGTGTAAGGTTTCTCTCCAGTGTGAAGTATAGT ATGTTTTGCCAGATATGAATTATATGCGAAAGCCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01433.hp2 HG01433.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0005 a0015c0021t0005	a0015c0021t0005g0094 a0015c0021t0005g0094	1	426	0.0024	-336	c.999 others(8): Show c.999_1334del	p.Glu others(13): Show p.Glu334_Asp445del	ZNF468	ENSG00000204604.13	transcript	ENST00000595646.6	protein_coding	4/4	1455/4405	999/1569	333/522			chr19	TogoVar
ZNF587_chr19_57844859_57870117	57856372	GTAGGAGT others(329): Show GTAGGAGTAAGGTGTGTGTATTGCCTTTTCCTCTCCTGTTTTTTTTTTTT TTCTGAGACAGTGTCTCGCTCTGTCACCCAGGCTGGAGTACAGCGGCGCC ATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCGTTCTCCTGC CTCAGCCTCTCAAGTAGCTGGGACTACAGGCGACTACCACCACGCCTGGC TAATTTTTTTTGTTTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGG ATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAG TGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 HG02630.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0059 a0003c0004t0060 a0003c0004t0059 a0003c0004t0060	a0003c0004t0059g0051 a0003c0004t0060g0051 a0003c0004t0059g0051 a0003c0004t0060g0051	2	454	0.0044	-336	c.163 others(15): Show c.163+140_163+475del		ZNF587	ENSG00000198466.12	transcript	ENST00000339656.8	protein_coding	2/2						chr19	TogoVar
ZNF816_chr19_52944385_52967881	52950176	CCCAGTAT others(329): Show CCCAGTATGAATTCTCCTATGTCTTTCAAGGTGTGATCTGCGACTGAAAA CTTTGTCACATTCTTCACATTTGTAAGGTTTCTCTCCAGCATGAAGTCTA TGATGACGTGCAAGGTTTTCTCTTCGACTAAAAACCTTGCCACATTCATT ACATGTGTAAGGTTTCTCTCCAGTGTGAAGTGTATGATGGTATTGAAGGG ATGACTTCCGACTGAAACTCCTGCCACATTTATTACACTTGTATGGTTTC TCTCCAGTATGAACTCTCTGATGTTCTGCAAGGTATGAATCACTCCGGAA AACCTTGTCACAAACCTTACATTTGTATGATCCCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18941.hp1 NA19002.hp1 NA18941.hp1 NA19002.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0042 a0011c0015t0001g0042	2	442	0.0045	-336	c.126 others(9): Show c.1263_1598del	p.Glu others(13): Show p.Glu422_Gly533del	ZNF816	ENSG00000180257.14	transcript	ENST00000444460.7	protein_coding	4/4	1768/2560	1263/1956	421/651			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306384	CGCCAGAG others(329): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTAT CTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACT AAGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCT CCCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGT ATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 NA18949.hp2 HG01070.hp2 HG01071.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0054	3	362	0.0083	-336	c.-12 others(19): Show c.-128+6563_-128+6898del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ADARB2_chr10_1172313_1742525	1235877	GATTCTGT others(328): Show GATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACT GTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGG AAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTG GAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGT GGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGC AAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCC CATCGGAGTGGGCGCTGAACGAACATGCCTGCATTT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0106 a0002c0002t0053g0106	1	106	0.0094	-335	c.136 others(19): Show c.1362-2367_1362-2033del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ANKRD12_chr18_9131781_9290985	9225120	AAGGCTTG others(328): Show AAGGCTTGTGAACTATTTGAATAAATAAACAATATAGGGATAGAATAGTC ATCTATTTAAAGTATTAATTTGGCCAGGCACAGTGACTTATGCCTGTAAT CCCAGCACTTTTGGGAAGTCGAGGCGGACAGATCACTTGAGCCCAGGAGT TCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATAC AAAAATTAGCCAGGCATGGTGGCGTGCGTCTGTAGTACCAGCTACTTGGG AGGCTGAGGTGGGAGAATGTCTTGAGCCCAGGAGGCGGAGGTTGCAAGGA GCTGAGGTCGTGCCACTGCATTCCAGCCTGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(142): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(3): Show a0001 a0005 a0008 a0013 a0014 a0015	a0001c0001 a0001c0007 a0001c0010 others(8): Show a0001c0001 a0001c0007 a0001c0010 a0001c0012 a0001c0024 a0001c0029 a0005c0006 a0008c0026 a0013c0020 a0014c0021 a0015c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(42): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0075 a0001c0007t0028 a0001c0007t0053 a0001c0010t0002 a0001c0012t0003 a0001c0024t0074 a0001c0029t0002 a0005c0006t0007 a0008c0026t0039 a0013c0020t0003 a0014c0021t0003 a0015c0019t0070	a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 others(142): Show a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0188 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0003g0001 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0193 a0001c0001t0003g0198 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0271 a0001c0001t0003g0275 a0001c0001t0003g0279 a0001c0001t0005g0017 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0167 a0001c0001t0005g0181 a0001c0001t0005g0186 a0001c0001t0005g0200 a0001c0001t0005g0206 a0001c0001t0005g0209 a0001c0001t0005g0217 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0222 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0231 a0001c0001t0005g0262 a0001c0001t0007g0187 a0001c0001t0007g0189 a0001c0001t0007g0240 a0001c0001t0007g0255 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0009g0024 a0001c0001t0010g0203 a0001c0001t0010g0224 a0001c0001t0010g0226 a0001c0001t0010g0227 a0001c0001t0010g0238 a0001c0001t0010g0264 a0001c0001t0011g0171 a0001c0001t0011g0237 a0001c0001t0011g0241 a0001c0001t0011g0245 a0001c0001t0011g0247 a0001c0001t0011g0250 a0001c0001t0012g0192 a0001c0001t0012g0196 a0001c0001t0012g0210 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0016g0177 a0001c0001t0016g0184 a0001c0001t0016g0223 a0001c0001t0016g0277 a0001c0001t0017g0015 a0001c0001t0017g0021 a0001c0001t0017g0028 a0001c0001t0017g0029 a0001c0001t0020g0182 a0001c0001t0020g0183 a0001c0001t0020g0197 a0001c0001t0021g0191 a0001c0001t0021g0257 a0001c0001t0021g0267 a0001c0001t0022g0002 a0001c0001t0022g0005 a0001c0001t0022g0170 a0001c0001t0027g0065 a0001c0001t0027g0131 a0001c0001t0029g0252 a0001c0001t0029g0269 a0001c0001t0030g0243 a0001c0001t0030g0276 a0001c0001t0031g0248 a0001c0001t0031g0317 a0001c0001t0034g0030 a0001c0001t0034g0031 a0001c0001t0041g0169 a0001c0001t0044g0258 a0001c0001t0045g0208 a0001c0001t0046g0190 a0001c0001t0047g0214 a0001c0001t0048g0232 a0001c0001t0049g0180 a0001c0001t0050g0221 a0001c0001t0051g0230 a0001c0001t0052g0256 a0001c0001t0054g0003 a0001c0001t0055g0001 a0001c0001t0056g0174 a0001c0001t0057g0244 a0001c0001t0058g0253 a0001c0001t0075g0004 a0001c0007t0028g0025 a0001c0007t0028g0026 a0001c0007t0053g0027 a0001c0010t0002g0175 a0001c0010t0002g0185 a0001c0012t0003g0280 a0001c0024t0074g0018 a0001c0029t0002g0229 a0005c0006t0007g0176 a0005c0006t0007g0178 a0005c0006t0007g0179 a0005c0006t0007g0204 a0005c0006t0007g0270 a0008c0026t0039g0016 a0013c0020t0003g0265 a0014c0021t0003g0168 a0015c0019t0070g0266	145	318	0.4560	-335	c.943 others(17): Show c.943+3124_943+3458del		ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
BVES_chr6_105091822_105142157	105119960	CATAAAAA others(328): Show CATAAAAACATGGATTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCGGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0076 a0001c0001t0008g0076	1	232	0.0043	-335	c.649 others(17): Show c.649-3427_649-3093del		BVES	ENSG00000112276.14	transcript	ENST00000314641.10	protein_coding	5/7						chr6	TogoVar
BVES_chr6_105091822_105142157	105119962	TAAAAACA others(328): Show TAAAAACATGGATTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0003c0004 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(73): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0002t0013 a0001c0002t0028 a0001c0002t0060 a0001c0005t0001 a0001c0007t0010 a0002c0003t0048 a0002c0003t0049 a0002c0003t0050 a0002c0003t0051 a0003c0004t0036 a0003c0004t0081 a0004c0006t0013 a0005c0008t0078	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(156): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0008 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0161 a0001c0001t0004g0002 a0001c0001t0004g0101 a0001c0001t0004g0110 a0001c0001t0004g0118 a0001c0001t0004g0127 a0001c0001t0004g0140 a0001c0001t0006g0006 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0007g0014 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0058 a0001c0001t0008g0007 a0001c0001t0008g0075 a0001c0001t0009g0001 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0012g0171 a0001c0001t0012g0172 a0001c0001t0012g0173 a0001c0001t0012g0174 a0001c0001t0013g0090 a0001c0001t0013g0146 a0001c0001t0014g0017 a0001c0001t0014g0079 a0001c0001t0014g0080 a0001c0001t0015g0015 a0001c0001t0015g0069 a0001c0001t0017g0112 a0001c0001t0017g0126 a0001c0001t0017g0136 a0001c0001t0018g0018 a0001c0001t0018g0119 a0001c0001t0019g0019 a0001c0001t0019g0106 a0001c0001t0020g0182 a0001c0001t0020g0195 a0001c0001t0020g0196 a0001c0001t0021g0183 a0001c0001t0021g0186 a0001c0001t0021g0189 a0001c0001t0022g0187 a0001c0001t0022g0191 a0001c0001t0022g0194 a0001c0001t0023g0016 a0001c0001t0029g0021 a0001c0001t0030g0114 a0001c0001t0030g0120 a0001c0001t0031g0109 a0001c0001t0031g0116 a0001c0001t0032g0087 a0001c0001t0032g0111 a0001c0001t0033g0100 a0001c0001t0033g0152 a0001c0001t0034g0081 a0001c0001t0034g0082 a0001c0001t0035g0093 a0001c0001t0035g0094 a0001c0001t0038g0184 a0001c0001t0038g0185 a0001c0001t0039g0074 a0001c0001t0040g0059 a0001c0001t0041g0078 a0001c0001t0042g0077 a0001c0001t0044g0064 a0001c0001t0045g0025 a0001c0001t0046g0053 a0001c0001t0052g0057 a0001c0001t0053g0056 a0001c0001t0054g0063 a0001c0001t0061g0142 a0001c0001t0062g0166 a0001c0001t0063g0113 a0001c0001t0064g0147 a0001c0001t0065g0104 a0001c0001t0066g0128 a0001c0001t0067g0102 a0001c0001t0068g0121 a0001c0001t0069g0115 a0001c0001t0070g0167 a0001c0001t0071g0165 a0001c0001t0072g0129 a0001c0001t0073g0108 a0001c0001t0074g0178 a0001c0001t0075g0097 a0001c0001t0076g0117 a0001c0001t0077g0083 a0001c0001t0079g0157 a0001c0001t0080g0156 a0001c0001t0082g0169 a0001c0001t0083g0123 a0001c0001t0084g0179 a0001c0001t0085g0190 a0001c0001t0086g0192 a0001c0001t0087g0188 a0001c0001t0088g0193 a0001c0002t0013g0175 a0001c0002t0028g0022 a0001c0002t0060g0168 a0001c0005t0001g0091 a0001c0007t0010g0068 a0002c0003t0048g0071 a0002c0003t0049g0070 a0002c0003t0050g0072 a0002c0003t0051g0073 a0003c0004t0036g0023 a0003c0004t0081g0170 a0004c0006t0013g0145 a0005c0008t0078g0164	188	232	0.8103	-335	c.649 others(17): Show c.649-3429_649-3095del		BVES	ENSG00000112276.14	transcript	ENST00000314641.10	protein_coding	5/7						chr6	TogoVar
CCDC127_chr5_191868_223153	209082	CAGGACTC others(328): Show CAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACA CATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTT CGCAGCCTGGCCACACACATCATTCCACAACACATAGGACTCCCCCACAA ACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACAC ATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACAC ACATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCT TCGCAGCCTGGCCACACACATCATTCCACAACACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(23): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01928.hp2 HG02004.hp1 HG02257.hp2 HG02280.hp1 HG02647.hp2 HG02683.hp2 HG02895.hp1 HG03471.hp1 HG04204.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 others(17): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0035 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0002c0004t0179 a0002c0004t0180 a0002c0004t0181 a0002c0004t0182 a0002c0004t0183 a0002c0004t0184 a0002c0004t0185	a0001c0001t0001g0096 a0001c0001t0006g0004 a0001c0001t0035g0016 others(17): Show a0001c0001t0001g0096 a0001c0001t0006g0004 a0001c0001t0035g0016 a0001c0001t0164g0232 a0001c0001t0165g0050 a0001c0001t0166g0047 a0001c0001t0167g0051 a0001c0001t0168g0048 a0001c0001t0169g0046 a0001c0001t0170g0052 a0001c0001t0171g0049 a0001c0001t0172g0053 a0001c0001t0173g0054 a0002c0004t0179g0234 a0002c0004t0180g0235 a0002c0004t0181g0236 a0002c0004t0182g0237 a0002c0004t0183g0238 a0002c0004t0184g0239 a0002c0004t0185g0233	26	406	0.0640	-335	c.122 others(17): Show c.122-3459_122-3125del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587782	CCCCCGTG others(328): Show CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCAC AGATACACGGCCCCCGTGTCACCCACAGATACACGG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03834.hp1 HG03139.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0060 a0001c0002t0004g0271 a0001c0001t0001g0060 a0001c0002t0004g0271	2	348	0.0058	-335	c.927 others(15): Show c.927+685_928-554del		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
DAP_chr5_10674230_10766234	10756068	AGCCCAGG others(328): Show AGCCCAGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCA AGCCTGAGAGAGACCCTGTCTAGACAAGAACAACAAAAAAAGGCTAGGGA AGAGGTGAAATGCCATGGGCCACCTTGACAGAAGGCTTCTGAAAAAAGAT AGTAACTAAAGGGTCTTGTTTTCCTTGGCATGTTGGGAACAAGGGCAGAC CTCTTACCTGGACCATTCAATTTCTGGTCCTGACTGGTTGACACTGGGAC TATGCTTAGCAAATCTGTGACCACAGGGTTAATAGAAGACAAATTAGTCT TCTGTTTCTAGCAATGGATAATCTGAAAGTCTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(76): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01981.hp1 HG02055.hp2 HG02071.hp1 HG02155.hp2 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18959.hp2 NA18965.hp2 NA18981.hp1 NA18990.hp2 NA18991.hp2 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0024 a0001c0001t0031 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(70): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0006g0018 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0336 a0001c0001t0007g0103 a0001c0001t0007g0202 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0240 a0001c0001t0007g0249 a0001c0001t0007g0260 a0001c0001t0007g0264 a0001c0001t0010g0193 a0001c0001t0018g0300 a0001c0001t0018g0329 a0001c0001t0024g0246 a0001c0001t0031g0338 a0001c0002t0001g0199	79	372	0.2124	-335	c.55+ others(15): Show c.55+4611_55+4945del		DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	1/3						chr5	TogoVar
DGKB_chr7_14140049_14907751	14212073	ACTCTCAT others(328): Show ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCAT GTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT TTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTC TCGTGTTTTGTGATATTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	148	0.0068	-335	c.212 others(21): Show c.2123-34257_2123-33923del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DIP2C_chr10_269201_694668	321873	GCGGGGCT others(328): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	-335	c.392 others(19): Show c.3924+4798_3924+5132del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
GAL3ST2_chr2_241771822_241809287	241806539	CCCCTCAG others(328): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	314	0.0032	-335	c.23 others(11): Show c.2374_*2708del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2253		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806650	CCCCCCTC others(328): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	314	0.0032	-335	c.24 others(11): Show c.2485_*2819del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2364		chr2	TogoVar
LHPP_chr10_124456823_124619141	124506701	GTAGGGAA others(328): Show GTAGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGGGGG TAGGGAAGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTTGGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAGGGGGTA GGGAGGATTTCAGGTGGAGAGGTAGACAGGATTTCAGGTTGGGGGGTAGG GAGGATTTCAGGTTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAG GATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0052 a0002c0002t0016g0052	1	260	0.0039	-335	c.624 others(17): Show c.624+8574_624+8908del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LOXL4_chr10_98242690_98273194	98265361	TAACAATG others(328): Show TAACAATGAACTATTATTATTATTATTATTATTATTATTATTATTATTAT TATTATTTTTGAGACAGATTTTTGCTCTTGTCACCCAGGCTGGAGTGCAA TGGCACAAACTCGACTCACTGCAACCTCCGCCTCCAGGGTTCAAGTGATT ATCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCAACAT GCCCAGCTAATTTATCTGTATTTTTAGTAGAGACAGGGTTTCACCACATC AGTTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAA GTGACGGGATTACCAGCGTGAGCCACTACATCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp2 others(126): Show HG00099.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18984.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0011 a0019 a0020	a0001c0002 a0002c0001 a0003c0005 others(4): Show a0001c0002 a0002c0001 a0003c0005 a0007c0008 a0011c0016 a0019c0015 a0020c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0002t0013 a0002c0001t0001 a0003c0005t0002 a0003c0005t0012 a0007c0008t0002 a0011c0016t0001 a0019c0015t0002 a0020c0014t0002	a0001c0002t0001g0014 a0001c0002t0001g0031 a0001c0002t0001g0065 others(47): Show a0001c0002t0001g0014 a0001c0002t0001g0031 a0001c0002t0001g0065 a0001c0002t0001g0178 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0023 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0064 a0001c0002t0002g0069 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0105 a0001c0002t0004g0015 a0001c0002t0011g0078 a0001c0002t0013g0079 a0002c0001t0001g0099 a0003c0005t0002g0009 a0003c0005t0002g0010 a0003c0005t0002g0011 a0003c0005t0002g0022 a0003c0005t0002g0034 a0003c0005t0002g0068 a0003c0005t0002g0072 a0003c0005t0002g0084 a0003c0005t0002g0085 a0003c0005t0002g0087 a0003c0005t0002g0093 a0003c0005t0002g0094 a0003c0005t0002g0095 a0003c0005t0002g0098 a0003c0005t0012g0083 a0007c0008t0002g0033 a0007c0008t0002g0082 a0011c0016t0001g0086 a0019c0015t0002g0071 a0020c0014t0002g0070	129	438	0.2945	-335	c.-33 others(17): Show c.-33+2436_-32-2311del		LOXL4	ENSG00000138131.4	transcript	ENST00000260702.4	protein_coding	1/14						chr10	TogoVar
LY75_chr2_159798355_159909756	159811120	CTGCCTCA others(328): Show CTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGACCCCACAGCGC CTAGCCCGTTGGATTCCTTTTTATTTTGATAATCTAAATAAATCTAGTTT TACTTAGTCATAAGAAGAACTATTTTTTAAAAATAGCTAATTTGTTTTAC AAAGCATAATACATCAGCACCGCAACATCACTCAAACAAAAAAAGACTAG GAGTGGCTTCTTAGCTCTTAAAAATGCCCCTGGTTTCCATTTAAATTGAT TTTTAATTGTGCTGAGTAACAGAAGCAGCCTGAGGAATGCAGCTTGTGCC CTTTAACACCTGTTTTTAATTCCAACCGAAGAGCAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0019 a0026 a0019 a0026	a0019c0020 a0026c0040 a0019c0020 a0026c0040	a0019c0020t0001 a0026c0040t0001 a0019c0020t0001 a0026c0040t0001	a0019c0020t0001g0135 a0026c0040t0001g0009 a0019c0020t0001g0135 a0026c0040t0001g0009	2	330	0.0061	-335	c.455 others(17): Show c.4550-780_4550-446del		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	31/34						chr2	TogoVar
MUC4_chr3_195741771_195816929	195783502	TCGGTGAC others(328): Show TCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCT AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGG TGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCGTCGGTG ACAAGAAGAGGAGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGAC AGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAG GAAGAGGGGTGGCCTGACCTGTGGATGCTGAGTAAGTGTCGGTGACAGGA AGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTG	T T	frameshift_variant frameshift_variant	HIGH	NA19074.hp2 NA19074.hp2	a0047 a0047	a0047c0161 a0047c0161	a0047c0161t0002 a0047c0161t0002	a0047c0161t0002g0043 a0047c0161t0002g0043	1	249	0.0040	-335	c.774 others(9): Show c.7743_8077del	p.Ser others(6): Show p.Ser2581fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8189/16756	7743/16239	2581/5412			chr3	TogoVar
MYH14_chr19_50198622_50315540	50226018	GGACCCCT others(328): Show GGACCCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCCCAGACCCCTGGGT CTGAGGGAGGAGGGGCTGGGGGCCTGGACTTTTGAGTCTGAGGGAGGAGG GGCTGGGGACCTGGACCCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTTTTGAGTCTGAGGGAGGAGGGGCTGGGGGCCTGAACCTCTGGGTCT GAGGGAGGAGGGGCTGGGGCCCTGGATTCTTGAGTCTGAGGGAGGAGGGG CTGGGGACCTGGACTCTTGAGTCTGGGGGAGGAGGGGCTGGGGGCCTGGA CCCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03831.hp1 HG01168.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0208 a0001c0004t0002g0199 a0001c0004t0001g0208 a0001c0004t0002g0199	2	298	0.0067	-335	c.810 others(15): Show c.810+373_811-519del		MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	7/42					INFO_REALIGN_3_PRIME	chr19	TogoVar
NEU4_chr2_241804193_241822413	241806539	CCCCTCAG others(328): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0152 a0001c0005t0001g0152	1	319	0.0031	-335	c.-27 others(11): Show c.-2738_-2404del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2653		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806650	CCCCCCTC others(328): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	319	0.0031	-335	c.-26 others(11): Show c.-2627_-2293del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2542		chr2	TogoVar
PBRM1_chr3_52540367_52690913	52675821	AGAATGAA others(328): Show AGAATGAAGCGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC GGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp1 others(150): Show HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0004c0010 a0005c0006	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(10): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0018 a0001c0003t0001 a0001c0003t0016 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0007t0001 a0001c0011t0001 a0004c0010t0001 a0005c0006t0001	a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0153 others(150): Show a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0249 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0298 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0170 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0213 a0001c0002t0003g0248 a0001c0002t0009g0299 a0001c0002t0018g0247 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0016g0236 a0001c0004t0001g0270 a0001c0004t0001g0271 a0001c0004t0001g0273 a0001c0004t0001g0274 a0001c0004t0001g0275 a0001c0004t0001g0276 a0001c0004t0001g0277 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0286 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0001c0004t0004g0269 a0001c0004t0004g0272 a0001c0004t0004g0278 a0001c0004t0004g0284 a0001c0004t0004g0285 a0001c0005t0001g0261 a0001c0005t0001g0262 a0001c0005t0001g0264 a0001c0007t0001g0241 a0001c0011t0001g0300 a0004c0010t0001g0160 a0005c0006t0001g0259	153	300	0.5100	-335	c.236 others(17): Show c.236+2344_236+2678del		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	3/31						chr3	TogoVar
PDCD6_chr5_266646_319974	291361	CCTCCATT others(328): Show CCTCCATTCTCTCCCTGAGACCCACCCACACTGACATGGTTCATTTTCAT TGCTGCGTGATCTCCCGTCTCCATTCTCTGCCTGAGACCCACCCACACTG ACATGGTTCATTTTCATTGCTGCGTGATCTCCCATCTCCATTCTCTCCCT GAGACCCACCCACACTGACATGGCTCATTTTCATTGCTGCGTGATCTCCC GTCTCCATTCTCTCCCTGAGACCCACCCACACTGACGTGGCTCCTTTTCA TTACTGCGTGATCTCCCGTCTCCATTCTCTCCCTGAGACCCACCCACACT GACATGGCTCATTTTCATTGCTGCGTGATCTCCCGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02135.hp2 NA18966.hp1 others(8): Show HG00597.hp2 HG02135.hp2 NA18966.hp1 NA18975.hp2 NA18978.hp1 NA18987.hp1 NA18994.hp2 NA19002.hp2 NA19009.hp1 NA19011.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0201 others(8): Show a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0006g0204	11	360	0.0306	-335	c.164 others(19): Show c.164-12750_164-12416del		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLGRKT_chr9_5352971_5442925	5434266	GTCTGGGA others(328): Show GTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAAGTGG GCGCCTCTGCCTGGCCACCCCGTCTGGGAGGTGAGGAGCACCTCTGCCCG GCCGCCCCATTTGGGAGGTGAGGGGCGTCTCTGCCTGGCCGCCACCCCGT CTGGGAAGTGAGGAGCACCTCTGCCCGGCCGCCGCCCCGTCTGGGAGGTG AGGGGTGTCTCTGCCCGGCTGCCCCGCCTGGGAAGTGAGGGGCACCTCTG CCCGGCTGCTCTTTGTCTGGGAGGTGGGGAGCGCCTCTGCCCAGCCGCCC CGTCTGGGAAGTGGGCGCCTCTGCCTGGCCGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02280.hp1 HG03130.hp2 others(1): Show HG01981.hp2 HG02280.hp1 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0391 a0001c0001t0002g0392 a0001c0001t0002g0018 a0001c0001t0002g0391 a0001c0001t0002g0392	4	414	0.0097	-335	c.-7+ others(15): Show c.-7+1968_-6-2284del		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	2/5						chr9	TogoVar
PRDM16_chr1_3064203_3443621	3287377	GCATCCAG others(328): Show GCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCA TCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCTGCCACGCGGGCATC CAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAG GATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGCGGGCATCCAGG ATTGCATTTACCGGGGCTGGAGCTGCCCCTGCCATGCGGGCATCGAGGAT TGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGTGGGCATCCAGGATT GCATTTACCGGGGCTGGAACCGCCCCGCCACGCGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0012 a0005c0018t0012	a0005c0018t0012g0030 a0005c0018t0012g0030	1	210	0.0048	-335	c.438 others(19): Show c.438+43272_438+43606del		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar

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