Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(299): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	296	0.0034	306	c.-20 others(315): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OR11H4_chr14_20234286_20249349	20236907	T T	TATATTAC others(299): Show TATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGG CACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATAT ACCACATATTACACGTGGCACATATAAAATATATACCACATATTACACGT GGCACATATAAAATATATACCACATATTACACGTGGCACATATAAAATAT ATACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG03041.hp1 HG01884.hp1 HG01884.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0005 a0001c0001t0001 a0001c0001t0002 a0001c0008t0005	a0001c0001t0001g0095 a0001c0001t0002g0101 a0001c0008t0005g0102 a0001c0001t0001g0095 a0001c0001t0002g0101 a0001c0008t0005g0102	3	439	0.0068	306	c.-24 others(317): Show c.-2436_-2435insATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCAC ATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACC ACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGC ACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATA CCACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTG GCACATATAAAATATATACCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2378		chr14	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(299): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp2 HG00639.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0078 a0001c0001t0002g0079	2	328	0.0061	306	c.-12 others(323): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OSBPL9_chr1_51612092_51794219	51711488	C C	CGGGGAAG others(299): Show CGGGGAAGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGAC CGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCCGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp1 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0171 a0001c0001t0005g0172	2	186	0.0108	306	c.242 others(323): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACCGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCCGATGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(299): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGG GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGAGGGGAGGGGAGGGGGGA GGGGGAGGGAGGGGGGAGGGGGAGGGAGGGGGGAGGGGGAGGGGGGAGGG GAGGGGGGGAGGGAGGGGGGAGGGGGAGGGGGGAGGGGAGGGGGGGGAGG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGA AGGGAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	302	0.0033	306	c.155 others(323): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCCTCCCCTCCCC CCTCCCCCTCCCCCCTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCCC CCTCCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCCTCCCCTCTC CCCCTCCCCCTCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCC TTCCCTTTCCCCCCCCTCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAM16_chr16_4335251_4356321	4344478	C C	CTGTGAGA others(299): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGCGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GTGACTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	367	0.0027	306	c.4-1 others(319): Show c.4-1188_4-1187insCAGTCACCTCCTCTCACGGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACGGAACGCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCC CCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACA GTCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCA CACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCT CTCACAGAACCCCCTCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344478	C C	CTGTGAGA others(299): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGACGAGGGGGTTCCGTGAGAGGAG GTGACTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp2 HG03486.hp2 HG02717.hp2 HG02976.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0207 a0002c0002t0001g0045 a0002c0002t0001g0207	3	367	0.0082	306	c.4-1 others(319): Show c.4-1188_4-1187insCAGTCACCTCCTCTCACGGAACCCCCTCGTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCC CCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGA ACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCA CACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCT CTCACAGAACCCCCTCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344478	C C	CTGTGAGA others(299): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GTGACTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01123.hp2 HG01515.hp1 others(27): Show HG00597.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG02027.hp2 HG02451.hp1 HG02559.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03710.hp1 HG04228.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp2 NA18969.hp1 NA18977.hp2 NA18980.hp2 NA19009.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0193 a0001c0001t0001g0210 others(23): Show a0001c0001t0001g0047 a0001c0001t0001g0193 a0001c0001t0001g0210 a0002c0002t0001g0019 a0002c0002t0001g0046 a0002c0002t0001g0071 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0211 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0232	30	367	0.0817	306	c.4-1 others(319): Show c.4-1188_4-1187insCAGTCACCTCCTCTCACGGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCC CCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGA ACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCA CACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCT CTCACAGAACCCCCTCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAPLN_chr14_73232506_73279623	73263931	C C	CCCTCTGA others(299): Show CCCTCTGACAGGTGTGTGTGACGGCCCCCCTACCCCCTCTGACAGGTGTG TGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTGACGGCCCCCCTA CCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTG TGTGTGACGGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCC GACCTCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGG TGTGTGTGACGGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCC CCGACCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0010 a0010	a0010c0045 a0010c0045	a0010c0045t0023 a0010c0045t0023	a0010c0045t0023g0192 a0010c0045t0023g0192	1	418	0.0024	306	c.286 others(323): Show c.2861+178_2861+179insTACCCCCTCTGACAGGTGTGTGTGACGG CCCCCCGACCTCCTCTGACAGGTGTGTGTGACGGCCCCCCTACCCCCTCT GACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTGAC GGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTCCT CTGACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTG ACGGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTC CTCTGACAGGTGTGTGTGACGGCCCCCC	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARK7_chr1_7956711_7990505	7990498	T T	TCACCACC others(299): Show TCACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATC ACCATCACCACCAGCATCACCTTCACCACCACCACCACCATCACCACCAC CATCACCATCACCACCACCATCACCTTCACCACCACCACCACCATCACCA CCACCATCACCTTCACCACCACCACCACCATCACCACCAGCATCACCCTC ACCATCACCCTCACCACCACCATCACCACACTCACCACCACCATCACCAT CACCACCAGCATCACCCTCACCACCACCATCACCATCACCACCACCATCA CCTTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	370	0.0027	306	c.54 others(317): Show c.5444_*5445insCACCACCACCACCACCATCACCACCACCATCACC ATCACCACCACCATCACCATCACCACCAGCATCACCTTCACCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCATCACCTTCACCACCA CCACCACCATCACCACCACCATCACCTTCACCACCACCACCACCATCACC ACCAGCATCACCCTCACCATCACCCTCACCACCACCATCACCACACTCAC CACCACCATCACCATCACCACCAGCATCACCCTCACCACCACCATCACCA TCACCACCACCATCACCTTCAC	PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding		4994		chr1	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(299): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGTCTAGGCTGGGC ACAGCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCA GATCACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAAC CCTGACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACC TGTAATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCG GGAAGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00597.hp2 others(44): Show HG00423.hp2 HG00438.hp2 HG00597.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp1 HG02602.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19067.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0205 a0001c0001t0001g0232 others(43): Show a0001c0001t0001g0017 a0001c0001t0001g0205 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0336 a0002c0002t0001g0252 a0002c0002t0001g0254	47	358	0.1313	306	c.126 others(323): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAG TGGCACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PCMT1_chr6_149744741_149816419	149803478	C C	CATAATCT others(299): Show CATAATCTGAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02293.hp2 HG01975.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0246 a0001c0001t0001g0232 a0001c0001t0001g0246	2	334	0.0060	306	c.37 others(323): Show c.37+1078_*37+1079insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAATAATCTGAATATTTT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDCD6_chr5_266646_319974	318218	C C	CCCCACCC others(299): Show CCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTC CCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATC CTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAA TCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCC CCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTA CCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0295 a0002c0003t0001g0295	1	360	0.0028	306	c.37 others(317): Show c.3703_*3704insCCCACCCTCCATCTCCCCCAACCCTGCACCTCCC CCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCT CCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCT GCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACC CTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTC ACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACC TCTCCCCATCTTTTACCTCCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3245		chr5	TogoVar
PDE4DIP_chr1_148839428_149038016	149023587	C C	CATATATG others(299): Show CATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTA TATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTGTATGTGTGCACATATATATGTACATGTGTATGTGTGCA CATATATATGTACATGTATGTGTGCACATATATATGTACATGTATATGTG TGCACAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0014 a0004c0016t0014	a0004c0016t0014g0020 a0004c0016t0014g0020	1	24	0.0417	306	c.628 others(323): Show c.6284-667_6284-666insCACATATATATGTACATGTGTATGTGTG CACATATATATGTACATGTGTATGTGTGCACATATATATGTACATGTATG TGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATG TATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATG TACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATA TATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTG CACATATATATGTACATGTATATGTGTG	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGGC others(299): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0149 a0001c0001t0049g0149	1	358	0.0028	306	c.143 others(321): Show c.143-462_143-461insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD8_chr10_117272274_117380440	117324985	T T	TAAGAATC others(299): Show TAAGAATCTGTTCTCCTGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0126 a0001c0002t0006g0126	1	322	0.0031	306	c.996 others(323): Show c.996-6012_996-6011insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCAGGAGAACAGATTCTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	2/4			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41429793	T T	TCTTATTT others(299): Show TCTTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT TGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACACGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0017 a0003c0005t0001g0017	1	206	0.0049	306	c.844 others(325): Show c.844-76653_844-76652insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACACGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCTTATTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(299): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCT TCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCT CCCCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCC CTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCC CTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	358	0.0028	306	c.44 others(317): Show c.4424_*4425insGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGA GGGGGAGGGAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAG GGAGGAAGAAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGAGG AGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAAGG GAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGGA GGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAG GGAGGGAGGAGGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	312	0.0032	306	c.53 others(317): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGAAGAGGGGA GGGGAGGAGATGGGAGGGGGAAGAGGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	312	0.0032	306	c.53 others(317): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	312	0.0032	306	c.53 others(317): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	312	0.0032	306	c.53 others(317): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(299): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGG AAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	312	0.0032	306	c.53 others(317): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(299): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAATAGGGGAGGGGAGAG GAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGG AAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	312	0.0032	306	c.53 others(317): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAA TAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455759	G G	GAGGAGAT others(299): Show GAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGA GGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGGAA GAGGGGATGGGAGGGGAAGAGGGGATGGGAGGGGAAGAGGGGAGGGGAGG GGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0021 a0001c0001t0017g0021	1	312	0.0032	306	c.54 others(317): Show c.5412_*5413insAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAG GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAG GAGGGAAGGGGGGAAGAGGGGATGGGAGGGGAAGAGGGGATGGGAGGGGA AGAGGGGAGGGGAGGGGAGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4291		chr17	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(299): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0027 a0006c0007t0003g0027	1	272	0.0037	306	c.611 others(323): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAAGGTTTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0065 a0001c0006t0065	a0001c0006t0065g0012 a0001c0006t0065g0012	1	218	0.0046	306	c.262 others(321): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCCT CTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCC CCTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTT CCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455759	G G	GAGGAGAT others(299): Show GAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGA GGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGGAA GAGGGGATGGGAGGGGAAGAGGGGATGGGAGGGGAAGAGGGGAGGGGAGG GGAGGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0208 a0001c0001t0096g0208	1	218	0.0046	306	c.262 others(323): Show c.2620-117_2620-116insTCCCTCCCCTCCCCTCCCCTCTTCCCCT CCCATCCCCTCTTCCCCTCCCATCCCCTCTTCCCCCCTTCCCTCCTCTCC CCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCTCC CCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCC CTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCCTCCCC TCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTC CCTTCCCCTCTTCCCCCTCCCATCTCCT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(299): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCA AGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp2 NA20300.hp1 HG03139.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0002 a0001c0006t0020 a0001c0007t0001 a0001c0005t0002 a0001c0006t0020 a0001c0007t0001	a0001c0005t0002g0064 a0001c0006t0020g0074 a0001c0007t0001g0087 a0001c0005t0002g0064 a0001c0006t0020g0074 a0001c0007t0001g0087	3	106	0.0283	306	c.100 others(325): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCG CTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLD4_chr14_104919879_104938236	104933730	G G	GCTGAGGG others(299): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACC CGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGG GGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGA CCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	426	0.0024	306	c.76 others(315): Show c.766_*767insCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGC TGAGTGAGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGG CGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGG GCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCG GGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGA GGGCGGGAGGGGACCTGCGA	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		495		chr14	TogoVar
PLD4_chr14_104919879_104938236	104933730	G G	GCTGAGGG others(299): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGTGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACC CGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGG GGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGA CCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02109.hp2 HG00733.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0008 a0001c0001t0001g0027	2	426	0.0047	306	c.76 others(315): Show c.766_*767insCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGC TGAGTGAGGGGAGGGTGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGG CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGG GCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCG GGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGA GGGCGGGAGGGGACCTGCGA	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		495		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	164894	A A	ACACTAAT others(299): Show ACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCG GAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGAC GGGGCGGCGCTCACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGC TCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACAC TAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGC TCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGG CGGAGCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0003 a0004c0041t0003	a0004c0041t0003g0077 a0004c0041t0003g0077	1	210	0.0048	306	c.347 others(325): Show c.3476+1349_3476+1350insTAATGCTCTGACGGGGCGGGGCTCAC ACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGCGCTCACACTAATGCTGTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTA ATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGATGGGGCGGAGCTCAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PMM2_chr16_8792839_8854325	8823641	C C	CAGGTTAG others(299): Show CAGGTTAGACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAGTCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01106.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0032 a0001c0001t0019g0033 a0001c0001t0019g0032 a0001c0001t0019g0033	2	408	0.0049	306	c.639 others(325): Show c.639+10550_639+10551insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAGTCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGAGGTTAGACTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(299): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGG CCTCCAGGAGGGTCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCA GGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCC CACAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG00735.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0021g0088 a0001c0001t0021g0089	2	210	0.0095	306	c.388 others(325): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGA ACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAG GATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCTGGGGACAGGC AAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(299): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGG CCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCA GGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCC CACAGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0034 a0001c0004t0010g0034	1	210	0.0048	306	c.388 others(325): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGA ACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACGG GGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGC AAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(299): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGG CCTCCAGGAGGGTCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCA GGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCC CACAGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0017 a0001c0002t0050g0017	1	210	0.0048	306	c.388 others(325): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACGGGGTCCAGGAGA ACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAG GATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCTGGGGACAGGC AAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151874474	G G	GATGTATA others(299): Show GATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTATA TGTATAAGTATATGTATATGATGTATATGTATATGATGTATATGTATGTA TATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTATA TGATGTATATGTATATGTATATGATGTATATGTATATATGTATATGTATA TGATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTAT ATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTATAT GATGTAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0217 a0001c0001t0029g0217	1	252	0.0040	306	c.114 others(323): Show c.114+2032_114+2033insATACATCATATACATATACATATACATC ATATACATATACATATACATCATATACATATACATATACATCATATACAT ATACATATACATCATATACATATACATCATATACATATACATATATACAT ATACATCATATACATATACATATACATCATATACATATACATCATATACA TATACATATACATCATATACATATACATATACATACATATACATCATATA CATATACATCATATACATATACTTATACATATACATCATATACATATACA TATACATCATATACATATACATATACAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2122498	C C	CAGCGATA others(299): Show CAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCGTCAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0282 a0002c0008t0001g0282	1	286	0.0035	306	c.335 others(325): Show c.335-12764_335-12763insAGCGATAGTTAGCGTCATGGTGGTGG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGGTCACAGCGATAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122498	C C	CAGCGATA others(299): Show CAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCGTCAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02004.hp1 HG00738.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0107 a0001c0006t0001g0131 a0001c0001t0001g0107 a0001c0006t0001g0131	2	286	0.0070	306	c.335 others(325): Show c.335-12764_335-12763insAGCGATAGTTAGCGTCATGGTGGTGG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGGTCACAGCGATAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(299): Show GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTG GTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTT AGGGTCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	286	0.0035	306	c.335 others(325): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CGTGGTGGTTAGGTTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGAT AGTTAGCATCATGGTGGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAA others(299): Show AGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTC ATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCT ATAGTTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	286	0.0035	306	c.335 others(325): Show c.335-10972_335-10971insGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACAGCGATAG TTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAA others(299): Show AGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCT ATAGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	286	0.0035	306	c.335 others(325): Show c.335-10972_335-10971insGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAG TTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124296	C C	CGGTGGTA others(299): Show CGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTG GGGTCAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	286	0.0035	306	c.335 others(325): Show c.335-10953_335-10952insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPSAP2_chr17_18853131_18936287	18888479	A A	ACCCCCCA others(299): Show ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCTGAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0380 a0001c0004t0005g0380	1	392	0.0026	306	c.529 others(323): Show c.529-1337_529-1336insACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTP4A3_chr8_141387021_141437454	141429976	C C	CCCGCTGT others(299): Show CCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCGGGT CCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGTACAGCC CAGGTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	323	0.0031	306	c.405 others(321): Show c.405-935_405-934insATGGCGGGGACAGGGTGAGCACACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGTACA GCCCAGGTTTCCGCTGTAAGGACCAG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141430064	G G	GCACAGTC others(299): Show GCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGA GCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTG AGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGT GAGCGTACAGCCCAGGTTTCCGCTGTAAGGACCAGGTGGCGGGGACAGGG TGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGG GTGAGCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19065.hp1 HG03834.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0190 a0001c0001t0004g0267 a0001c0001t0001g0190 a0001c0001t0004g0267	2	323	0.0062	306	c.405 others(321): Show c.405-812_405-811insCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACC CGGTGGCGGGGACAGGGTGAGCGTACAGCCCAGGTTTCCGCTGTAAGGAC CAGGTGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGG ACCAGGTGGCGGGGACAGGGTGAGCG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141430064	G G	GCACAGTC others(299): Show GCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGA GCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTG AGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGT GAGCGTACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGG TGAGCGTACAGCCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGG GTGAGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02886.hp2 others(3): Show HG02055.hp1 HG02280.hp2 HG02886.hp2 HG03486.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0039 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0270 a0001c0001t0026g0052	6	323	0.0186	306	c.405 others(321): Show c.405-812_405-811insCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACC CGGTGGCGGGGACAGGGTGAGCGTACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGACAGGGTGAGCGTACAGCCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGG ACCAGGTGGCGGGGACAGGGTGAGCG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN2_chr18_12787152_12889237	12887804	T T	TTAGATTA others(299): Show TTAGATTAATAAGTGAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	370	0.0027	306	c.-36 others(317): Show c.-3664_-3663insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAATTCACTTATTAATCTA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding		3568		chr18	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(299): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCATCAGGCCCAC CAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGC CCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACC AGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCATCCC CACCAGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	330	0.0030	306	c.397 others(319): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG GGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAD51B_chr14_67814779_68483093	67982730	T T	TCTATGTT others(299): Show TCTATGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACCGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCAGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	84	0.0119	306	c.756 others(325): Show c.756+95540_756+95541insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACCGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCAGCCTATGTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar

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Search Results (Total: 10000 hits)