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 per page.

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
PDE4B_chr1_65787895_66379574	66090616	A A	ATGTGTGT others(16): Show ATGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	118	0.0085	23	c.282 others(44): Show c.282-156844_282-156843insTGTGTGTGTGTGTGTGTGTGTGT	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16			chr1	TogoVar
PDE4D_chr5_58964038_59898726	59413457	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	74	0.0135	23	c.456 others(44): Show c.456-197512_456-197490dupTTTTTTTTTTTTTTTTTTTTTTT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE5A_chr4_119489403_119633804	119628303	G G	GCAAGTAC others(16): Show GCAAGTACATTTTTGTATTTGAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0009	a0001c0001 a0001c0015 a0002c0003 others(3): Show a0001c0001 a0001c0015 a0002c0003 a0007c0011 a0008c0012 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0015t0017 a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 a0002c0003t0019 a0007c0011t0001 a0008c0012t0001 a0009c0014t0026	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0165 others(150): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0002g0301 a0001c0001t0003g0196 a0001c0001t0003g0204 a0001c0001t0003g0234 a0001c0001t0006g0176 a0001c0001t0006g0299 a0001c0001t0006g0302 a0001c0001t0006g0305 a0001c0001t0006g0308 a0001c0001t0006g0310 a0001c0001t0006g0312 a0001c0001t0020g0174 a0001c0001t0020g0200 a0001c0001t0021g0300 a0001c0001t0021g0307 a0001c0001t0027g0217 a0001c0001t0028g0213 a0001c0015t0017g0216 a0002c0003t0003g0005 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0275 a0002c0003t0003g0276 a0002c0003t0003g0277 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0003g0280 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0285 a0002c0003t0003g0290 a0002c0003t0003g0291 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0009g0007 a0002c0003t0009g0008 a0002c0003t0009g0009 a0002c0003t0009g0010 a0002c0003t0010g0266 a0002c0003t0010g0287 a0002c0003t0010g0288 a0002c0003t0010g0289 a0002c0003t0019g0281 a0002c0003t0019g0286 a0007c0011t0001g0013 a0008c0012t0001g0282 a0009c0014t0026g0244	156	336	0.4643	23	c.152 others(38): Show c.152+194_152+216dupGTTCAAATACAAAAATGTACTTG	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding	1/20			chr4	TogoVar
PDE5A_chr4_119489403_119633804	119628318	T T	TATTTGAA others(16): Show TATTTGAACCAAGTACATTTTTGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18947.hp2 NA18982.hp1 others(1): Show HG02083.hp1 NA18947.hp2 NA18982.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 others(1): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298	4	336	0.0119	23	c.152 others(38): Show c.152+201_152+202insGCAAAAATGTACTTGGTTCAAAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding	1/20			chr4	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02083.hp2 HG02280.hp2 others(4): Show HG01891.hp1 HG02083.hp2 HG02280.hp2 HG03453.hp1 HG03669.hp2 NA19060.hp2 NA19082.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0029 a0008c0022 a0001c0001 a0001c0029 a0008c0022	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0073 a0001c0029t0084 a0008c0022t0004	a0001c0001t0002g0186 a0001c0001t0002g0195 a0001c0001t0007g0126 others(4): Show a0001c0001t0002g0186 a0001c0001t0002g0195 a0001c0001t0007g0126 a0001c0001t0013g0016 a0001c0001t0073g0107 a0001c0029t0084g0328 a0008c0022t0004g0193	7	328	0.0213	23	c.106 others(40): Show c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTT	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0314 a0003c0007t0001g0314	1	328	0.0031	23	c.858 others(40): Show c.858+2796_858+2797insAAATATATATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0024 a0001c0016t0024	a0001c0016t0024g0312 a0001c0016t0024g0312	1	328	0.0031	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18960.hp1 NA19091.hp2 HG03209.hp1 NA18960.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0083 a0001c0002t0003 a0001c0002t0006 a0001c0002t0083	a0001c0002t0003g0260 a0001c0002t0006g0280 a0001c0002t0083g0327 a0001c0002t0003g0260 a0001c0002t0006g0280 a0001c0002t0083g0327	3	328	0.0092	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02040.hp1 HG02818.hp1 others(6): Show HG00544.hp1 HG02040.hp1 HG02818.hp1 HG02896.hp1 HG03017.hp2 NA18747.hp2 NA18906.hp2 NA18980.hp2 NA19077.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0001c0005 a0001c0033 others(1): Show a0001c0002 a0001c0005 a0001c0033 a0011c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0001c0005t0047 a0001c0033t0002 a0011c0027t0052	a0001c0002t0001g0247 a0001c0002t0001g0259 a0001c0002t0002g0252 others(6): Show a0001c0002t0001g0247 a0001c0002t0001g0259 a0001c0002t0002g0252 a0001c0002t0003g0253 a0001c0002t0007g0263 a0001c0002t0012g0286 a0001c0005t0047g0320 a0001c0033t0002g0251 a0011c0027t0052g0192	9	328	0.0274	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03710.hp1 HG03710.hp2 HG02717.hp2 HG03710.hp1 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 a0001c0002 a0001c0005 a0001c0008	a0001c0002t0001 a0001c0005t0002 a0001c0008t0006 a0001c0002t0001 a0001c0005t0002 a0001c0008t0006	a0001c0002t0001g0225 a0001c0005t0002g0324 a0001c0008t0006g0272 a0001c0002t0001g0225 a0001c0005t0002g0324 a0001c0008t0006g0272	3	328	0.0092	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG02027.hp1 others(1): Show HG00621.hp2 HG01123.hp1 HG02027.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0009 a0001c0002t0012	a0001c0001t0007g0126 a0001c0002t0002g0292 a0001c0002t0009g0238 others(1): Show a0001c0001t0007g0126 a0001c0002t0002g0292 a0001c0002t0009g0238 a0001c0002t0012g0293	4	328	0.0122	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0305 a0001c0002t0003g0305	1	328	0.0031	23	c.858 others(40): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6H_chr12_14968042_14986865	14982038	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	448	0.0022	23	c.56 others(32): Show c.562_*563insTTTTTTTTTTTTTTTTTTTTTTT	PDE6H	ENSG00000139053.3	transcript	ENST00000266395.3	protein_coding		174		chr12	TogoVar
PDE7A_chr8_65709334_65847064	65730171	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0064 a0001c0001t0056g0064	1	248	0.0040	23	c.697 others(40): Show c.697-2893_697-2871dupAAAAAAAAAAAAAAAAAAAAAAA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	7/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0043	1	248	0.0040	23	c.139 others(42): Show c.139-15364_139-15363insATATATATATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	248	0.0040	23	c.139 others(42): Show c.139-15364_139-15363insAAATATATATATATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01928.hp2 others(17): Show HG00423.hp1 HG00673.hp1 HG01928.hp2 HG02145.hp2 HG02559.hp2 HG02723.hp1 HG02897.hp1 NA18906.hp1 NA18957.hp1 NA18957.hp2 NA18967.hp1 NA18985.hp1 NA18986.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19081.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0007c0009t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 others(17): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0335 a0001c0001t0002g0263 a0001c0002t0001g0328 a0007c0009t0001g0137 a0007c0009t0001g0140	20	344	0.0581	23	c.173 others(42): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02165.hp2 HG02735.hp2 others(2): Show HG01074.hp2 HG02165.hp2 HG02735.hp2 HG03704.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0002g0168 a0001c0001t0002g0233 a0001c0001t0006g0059 others(2): Show a0001c0001t0002g0168 a0001c0001t0002g0233 a0001c0001t0006g0059 a0001c0001t0014g0082 a0001c0001t0014g0125	5	314	0.0159	23	c.116 others(42): Show c.1168-3220_1168-3198dupTTTTTTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp1 HG02965.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0285 a0001c0001t0001g0240 a0001c0001t0001g0285	2	324	0.0062	23	c.263 others(40): Show c.263-5145_263-5144insATATATATATATTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19057.hp1 NA18612.hp2 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0041 a0001c0003t0001g0252 a0001c0002t0002g0041 a0001c0003t0001g0252	2	324	0.0062	23	c.263 others(40): Show c.263-5145_263-5144insATATATATATTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(16): Show TCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0119 a0001c0003t0003g0119	1	302	0.0033	23	c.581 others(40): Show c.581-1147_581-1146insGGGGGGGGGGGGGGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156851930	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	208	0.0048	23	c.119 others(40): Show c.119-1537_119-1515dupTTTTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	104119162	A A	ATAATATA others(16): Show ATAATATATTAATATAATATATTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0198 a0001c0002t0014g0198	1	200	0.0050	23	c.124 others(42): Show c.124+44641_124+44642insCAATATATTATATTAATATATTA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18942.hp2 NA18951.hp2 NA18747.hp2 NA18942.hp2 NA18951.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0001 a0001c0002t0001 a0007c0009t0001 a0001c0001t0001 a0001c0002t0001 a0007c0009t0001	a0001c0001t0001g0069 a0001c0002t0001g0072 a0007c0009t0001g0086 a0001c0001t0001g0069 a0001c0002t0001g0072 a0007c0009t0001g0086	3	400	0.0075	23	c.353 others(38): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(16): Show TCCCCGCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18979.hp1 HG01109.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0110 a0001c0001t0001g0019 a0001c0001t0001g0110	2	400	0.0050	23	c.940 others(38): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641898	C C	CCCGCCCC others(16): Show CCCGCCCCCCCCCCCCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0249 a0001c0004t0001g0249	1	400	0.0025	23	c.940 others(38): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCTCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	285839	T T	TCCCAACC others(16): Show TCCCAACCCGGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01261.hp2 others(4): Show HG00621.hp2 HG00642.hp1 HG01261.hp2 HG01361.hp2 HG01934.hp2 NA18952.hp1 NA18959.hp2	a0001 a0010 a0023 a0001 a0010 a0023	a0001c0001 a0010c0018 a0023c0036 a0001c0001 a0010c0018 a0023c0036	a0001c0001t0001 a0010c0018t0001 a0023c0036t0001 a0001c0001t0001 a0010c0018t0001 a0023c0036t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0010c0018t0001g0020 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0010c0018t0001g0020 a0010c0018t0001g0054 a0023c0036t0001g0061	7	436	0.0161	23	c.111 others(40): Show c.1119+165_1119+187dupCCCGGCGGTTCTCCCAACCCCAA	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285871	G G	GGCGGTTC others(16): Show GGCGGTTCTCCCAACCCCAAACCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	436	0.0023	23	c.111 others(40): Show c.1119+188_1119+210dupACCCGCGGTTCTCCCAACCCCAA	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(16): Show TCCCAACCCCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	436	0.0023	23	c.111 others(40): Show c.1119+300_1119+322dupCAACCCCAACCCCGCGGTTCTCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	286015	C C	CGCGGTTC others(16): Show CGCGGTTCTCCCAACCCCAACCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02258.hp2 HG04184.hp2 HG01346.hp2 HG02258.hp2 HG04184.hp2	a0001 a0008 a0015 a0001 a0008 a0015	a0001c0001 a0008c0007 a0015c0059 a0001c0001 a0008c0007 a0015c0059	a0001c0001t0001 a0008c0007t0001 a0015c0059t0001 a0001c0001t0001 a0008c0007t0001 a0015c0059t0001	a0001c0001t0001g0116 a0008c0007t0001g0046 a0015c0059t0001g0131 a0001c0001t0001g0116 a0008c0007t0001g0046 a0015c0059t0001g0131	3	436	0.0069	23	c.111 others(40): Show c.1119+322_1119+323insCAACCCCAACCCTGCGGTTCTCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	332	0.0030	23	c.609 others(40): Show c.609+1076_609+1077insATATATATATATATATATATATA	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16			chr3	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03654.hp1 HG06807.hp2 others(3): Show HG00735.hp1 HG03654.hp1 HG06807.hp2 NA18984.hp1 NA19066.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0242 others(3): Show a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0242 a0001c0001t0002g0068 a0001c0001t0002g0099 a0001c0001t0008g0230	6	258	0.0233	23	c.248 others(40): Show c.248+1686_248+1708dupTTTTTTTTTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp1 HG02647.hp1 others(2): Show HG01496.hp1 HG02486.hp1 HG02647.hp1 HG04184.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0201 a0001c0001t0001g0233 a0002c0003t0001g0205 others(2): Show a0001c0001t0001g0201 a0001c0001t0001g0233 a0002c0003t0001g0205 a0002c0003t0003g0049 a0002c0003t0003g0066	5	338	0.0148	23	c.533 others(40): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM5_chr4_94446942_94673223	94494432	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0214 a0001c0001t0017g0214	1	218	0.0046	23	c.97- others(40): Show c.97-29290_97-29268dupTTTTTTTTTTTTTTTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM7_chr5_177478394_177502604	177479679	T T	TCCTCACT others(16): Show TCCTCACTATGCTGGGCCCTGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	440	0.0023	23	c.39 others(34): Show c.3964_*3965insGGCCAGGGCCCAGCATAGTGAGG	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		3714		chr5	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG03486.hp1 HG04228.hp1 others(1): Show HG02083.hp1 HG03486.hp1 HG04228.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0129 a0001c0001t0031g0128	4	184	0.0217	23	c.-46 others(34): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDS5A_chr4_39817863_39982911	39831875	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0335 a0001c0002t0004g0335	1	356	0.0028	23	c.401 others(42): Show c.4010+5958_4010+5980dupTTTTTTTTTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAGTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0130 a0001c0002t0003g0130	1	356	0.0028	23	c.139 others(40): Show c.139-2083_139-2082insAAAAAAACTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	334	0.0030	23	c.313 others(40): Show c.313-2864_313-2863insATATATATATATATATATATTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0302 a0001c0001t0017g0302	1	334	0.0030	23	c.313 others(40): Show c.313-2864_313-2863insATATATATATATATATTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	334	0.0030	23	c.313 others(40): Show c.313-2864_313-2863insATATATATATATATTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	334	0.0030	23	c.313 others(40): Show c.313-2864_313-2863insATATTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	334	0.0030	23	c.313 others(40): Show c.313-2864_313-2863insATTTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02735.hp1 NA18968.hp1 others(1): Show HG02559.hp2 HG02735.hp1 NA18968.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0027	a0001c0001t0002g0175 a0001c0001t0006g0185 a0001c0001t0010g0110 others(1): Show a0001c0001t0002g0175 a0001c0001t0006g0185 a0001c0001t0010g0110 a0001c0001t0027g0177	4	334	0.0120	23	c.313 others(40): Show c.313-2864_313-2863insATATATATATATATATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TATATATA others(16): Show TATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG03927.hp1 HG02056.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0089 a0001c0001t0001g0094	2	416	0.0048	23	c.-46 others(34): Show c.-4633_-4632insATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp2 HG01346.hp2 others(3): Show HG00673.hp2 HG01243.hp2 HG01346.hp2 HG03540.hp2 NA18974.hp1 NA19058.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0006 a0001c0001t0001 a0005c0004t0006	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0150 a0001c0001t0001g0183 a0001c0001t0001g0184 a0005c0004t0006g0083	6	416	0.0144	23	c.163 others(38): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp1 NA20300.hp1 HG02886.hp1 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0236 a0001c0001t0007g0234 a0001c0001t0007g0235 a0001c0001t0001g0236 a0001c0001t0007g0234 a0001c0001t0007g0235	3	260	0.0115	23	c.296 others(38): Show c.296+577_296+578insTTTTTTTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984496	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	279	0.0036	23	c.21+ others(38): Show c.21+9276_21+9277insATATATATATATATATATATATA	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22			chr16	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	358	0.0028	23	c.143 others(38): Show c.143-459_143-458insGGCGGGGGGCTCGCGGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741234	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0074 a0001c0002t0028g0074	1	358	0.0028	23	c.143 others(38): Show c.143-416_143-415insGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar

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