Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0001t0010g0019 a0001c0001t0010g0020	2	300	0.0067	216	c.239 others(235): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT		PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0182 a0002c0009t0001g0184 a0002c0009t0001g0182 a0002c0009t0001g0184	2	302	0.0066	216	c.-71 others(225): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGCATT		PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding					529		chr5	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(209): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	216	c.-26 others(227): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(209): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	436	0.0023	216	c.-26 others(227): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCLO_chr7_82749012_83167884	82999558	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTAAATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp1 HG02257.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0006 a0001c0016t0011 a0001c0001t0006 a0001c0016t0011	a0001c0001t0006g0179 a0001c0016t0011g0057 a0001c0001t0006g0179 a0001c0016t0011g0057	2	188	0.0106	216	c.330 others(237): Show c.3301-33072_3301-33071insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATTTAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATATTTAATATTACATATTATATTTTATGTTTTAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	82999558	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTATATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0010 a0009c0006t0010	a0009c0006t0010g0008 a0009c0006t0010g0008	1	188	0.0053	216	c.330 others(237): Show c.3301-33072_3301-33071insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATATAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATATTTAATATTACATATTATATTTTATGTTTTAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	82999583	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAACATAAAATATAATATGT AATATTAAACATAAAATATAATATGTAATATTATATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0020 a0020	a0020c0111 a0020c0111	a0020c0111t0030 a0020c0111t0030	a0020c0111t0030g0152 a0020c0111t0030g0152	1	188	0.0053	216	c.330 others(237): Show c.3301-33097_3301-33096insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATATAATATTACATATTATATTTTATGTTTAATATTACATATT ATATTTTATGTTTAATATTACATATTATATTTTATGTTTTAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	82999583	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTAAATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19088.hp2 NA18988.hp1 NA19088.hp2	a0023 a0023	a0023c0021 a0023c0021	a0023c0021t0002 a0023c0021t0002	a0023c0021t0002g0093 a0023c0021t0002g0094 a0023c0021t0002g0093 a0023c0021t0002g0094	2	188	0.0106	216	c.330 others(237): Show c.3301-33097_3301-33096insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATTTAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATATTTAATATTACATATTATATTTTATGTTTTAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	82999583	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTATATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	188	0.0053	216	c.330 others(237): Show c.3301-33097_3301-33096insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATATAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATATTTAATATTACATATTATATTTTATGTTTTAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCSK6_chr15_101298933_101494707	101493338	T T	TCCCCTCC others(209): Show TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTCCCCTG CCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCC CTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCC CTCCCCCTCCCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	336	0.0030	216	c.-36 others(227): Show c.-3669_-3668insGGGGAGGGGAGGGGGAGGGGGAGGGGGAGTGGGG AGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAG TGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGG AAGTGGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding					3632		chr15	TogoVar
PDGFB_chr22_39218359_39249982	39220483	A A	ATGGATGG others(209): Show ATGGATGGATGGATGGACAGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGACAGGTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGACAGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGACAGGTGGATGGATGGATGGATGGATGG ATGGGCAGGTGGACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0047 a0001c0001t0019g0047	1	386	0.0026	216	c.48 others(227): Show c.4858_*4859insCCTGTCCACCTGCCCATCCATCCATCCATCCATC CATCCACCTGTCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCTACCTGTCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCTGTCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTACCTGTCCATCCATCCATCCA		PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding					2875		chr22	TogoVar
PDIA5_chr3_123062025_123167104	123152003	T T	TCCTGCCT others(209): Show TCCTGCCTTCCTGCCTTCCTTCCTGCCTTCCTTCCTGCCTGCCTTCCTTC CTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGC CTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCT GCCTTTCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	332	0.0030	216	c.127 others(235): Show c.1273+1642_1273+1643insGCCTTCCTGCCTTCCTTCCTGCCTTC CTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCT TCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTC CTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCT		PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(209): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGA AAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	342	0.0029	216	c.20- others(231): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12						chr2	TogoVar
PDSS2_chr6_107147562_107464564	107262608	T T	TAAAAATA others(209): Show TAAAAATACAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	260	0.0039	216	c.630 others(235): Show c.630+11420_630+11421insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTTTT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	3/7						chr6	TogoVar
PDXK_chr21_43714129_43767299	43741187	C C	CGGGGGGC others(209): Show CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0118 a0001c0001t0067g0118	1	358	0.0028	216	c.143 others(231): Show c.143-474_143-473insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31837016	A A	AAAAGAAA others(209): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0040 a0001c0001t0010g0040	1	216	0.0046	216	c.476 others(235): Show c.476+37331_476+37332insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(65): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01496.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02148.hp2 HG02683.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18950.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19012.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19083.hp2 NA19091.hp2	a0001 a0007 a0015 others(1): Show a0001 a0007 a0015 a0019	a0001c0001 a0001c0007 a0007c0010 others(2): Show a0001c0001 a0001c0007 a0007c0010 a0015c0038 a0019c0035	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0007t0001 a0007c0010t0001 a0015c0038t0001 a0019c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0006g0044 a0001c0001t0006g0207 a0001c0001t0010g0147 a0001c0007t0001g0093 a0007c0010t0001g0027 a0007c0010t0001g0094 a0015c0038t0001g0203 a0019c0035t0001g0189	68	408	0.1667	216	c.215 others(233): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCCCTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0188 a0001c0034t0001g0188	1	408	0.0025	216	c.215 others(233): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGGGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCTGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04115.hp2 HG02735.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	408	0.0049	216	c.215 others(233): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCAGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PGAP6_chr16_365788_386978	378138	A A	AGCCATCG others(209): Show AGCCATCGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCACCC GCACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTGCCATCGCC ACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCAT CGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCACCCGCACTG CCATCGCCACCCGCACT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp1 HG03942.hp2 HG02735.hp1 HG03834.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0077	3	376	0.0080	216	c.122 others(231): Show c.122-291_122-290insAGTGCGGGTGGCGATGGCAGTGCGGGTGGG GATGGCAGTGCGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGG TGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCGATGGCAGTC AGAGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGC AGTGCGGGTGGCGATGGCAGTCAGGGTGGCGATGGC		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12						chr16	TogoVar
PITPNM3_chr17_6446263_6561555	6560558	C C	CTGGCAGG others(209): Show CTGGCAGGTCCTCGACGGGCCGAGAGCGGTGAGCAGAAGACGAAGAAGAA GAGCAGAGGAAGCAGAAGATGGTGACGAAGGAGACTGGCGAAGCGAAGAA GCGAGGAAGAAGAAGACGGAGAAGAAGACGGAAGATGGAGAAGAGGAAGC GGACGCTCTCGATTCTCCTCCTTCGACGATCCGGTCGCAGCCTCCGGCGA CGCTCCTCTTCTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0006 a0002c0009t0006	a0002c0009t0006g0113 a0002c0009t0006g0113	1	218	0.0046	216	c.-41 others(227): Show c.-4153_-4152insAGGAGAGAAGAGGAGCGTCGCCGGAGGCTGCGAC CGGATCGTCGAAGGAGGAGAATCGAGAGCGTCCGCTTCCTCTTCTCCATC TTCCGTCTTCTTCTCCGTCTTCTTCTTCCTCGCTTCTTCGCTTCGCCAGT CTCCTTCGTCACCATCTTCTGCTTCCTCTGCTCTTCTTCTTCGTCTTCTG CTCACCGCTCTCGGCCCGTCGAGGACCTGCCA		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding					4004		chr17	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(209): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0043 a0043	a0043c0063 a0043c0063	a0043c0063t0005 a0043c0063t0005	a0043c0063t0005g0066 a0043c0063t0005g0066	1	134	0.0075	216	c.575 others(237): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(209): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	216	0.0046	216	c.173 others(233): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(209): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	250	0.0040	216	c.309 others(235): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTGCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00558.hp2 others(61): Show HG00280.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02683.hp1 HG03017.hp1 HG03239.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19012.hp1 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0002c0006 a0003c0003 a0003c0005 a0004c0004 a0004c0031	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0032 a0001c0007t0001 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0003c0005t0001 a0004c0004t0001 a0004c0031t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0008g0001 a0001c0001t0014g0001 a0001c0001t0016g0037 a0001c0001t0032g0001 a0001c0007t0001g0001 a0001c0007t0001g0023 a0002c0002t0001g0003 a0002c0006t0001g0001 a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0151 a0003c0005t0001g0018 a0004c0004t0001g0106 a0004c0031t0001g0110	64	422	0.1517	216	c.29 others(227): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1612		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	216	c.29 others(227): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCGG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1612		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCCCTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	422	0.0024	216	c.29 others(227): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCCCTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1612		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCTGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG04115.hp2 HG02735.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	216	c.29 others(227): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCTGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1612		chr1	TogoVar
PPARGC1B_chr5_149725310_149860022	149777800	C C	CACACACA others(209): Show CACACACACACACACACACACACACACACACACACACAGAGTACCCGGCT GCTCATATCCATGTAGCAGCATCACACACACACACACACACACACACACA CACAGTATCCGGCTGCTTGTATCCATGTAGCAGTGCCCCCCTCCCCCCCC CACCACAGACACACACACAGAGTACCCGGCTGCTCATATCCATGTAGCAT CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0031 a0001c0030t0031	a0001c0030t0031g0320 a0001c0030t0031g0320	1	320	0.0031	216	c.79- others(233): Show c.79-42606_79-42605insCACACACACAGAGTACCCGGCTGCTCAT ATCCATGTAGCAGCATCACACACACACACACACACACACACACACACAGT ATCCGGCTGCTTGTATCCATGTAGCAGTGCCCCCCTCCCCCCCCCACCAC AGACACACACACAGAGTACCCGGCTGCTCATATCCATGTAGCATCACACA CACACACACATACACACACACACACACACACACACACA		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPM1L_chr3_160751231_161083902	160945128	T T	TAACATGT others(209): Show TAACATGTTATATATAACTATATATAACATGTTATATATAACTATATATA ACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAAC ATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACAT GTTATATATAACTATATATAACATGTTATATATAACTATATATAACATGT TATATATAACATATATG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02572.hp1 HG03942.hp2 others(1): Show HG01943.hp2 HG02572.hp1 HG03942.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0041 a0001c0001t0003 a0001c0001t0029 a0001c0001t0041	a0001c0001t0003g0072 a0001c0001t0003g0131 a0001c0001t0029g0030 others(1): Show a0001c0001t0003g0072 a0001c0001t0003g0131 a0001c0001t0029g0030 a0001c0001t0041g0167	4	206	0.0194	216	c.400 others(235): Show c.400-16608_400-16607insAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGTT ATATATAACTATATATAACATGTTATATATAACATATATG		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3						chr3	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(209): Show ACTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCT CCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTT CCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	244	0.0041	216	c.467 others(229): Show c.467+96_467+97insTCCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCT TCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R7_chr2_241145467_241188652	241187727	C C	CAGGAGGA others(209): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGA GGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGG GGAGGGGGAGAAACGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG03540.hp1 others(1): Show HG02258.hp1 HG02622.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0109 a0001c0001t0006g0111 others(1): Show a0001c0001t0006g0107 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0155	4	396	0.0101	216	c.49 others(227): Show c.4904_*4905insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAG AGGGAGAAGTGGGGGGGAGGGGGAGAAACGAT		PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding					4076		chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(209): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGC CTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0273 a0001c0021t0001g0273	1	340	0.0029	216	c.227 others(233): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCCCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAM1_chr19_8485056_8507640	8499451	C C	CGGCTTCT others(209): Show CGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGA GGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCA GGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTT CTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAG TGACCTCAGGCGGCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00099.hp2	a0070 a0070	a0070c0091 a0070c0091	a0070c0091t0002 a0070c0091t0002	a0070c0091t0002g0234 a0070c0091t0002g0234	1	422	0.0024	216	c.356 others(223): Show c.356_357insCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCC CGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTC ACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAA GAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGC CTGAGGTCACTGACCTCCCCAAGAAGCC	p.Pro others(229): Show p.Pro119_Ser120insProProProGluValThrAspLeuProLysLy sProProProProGluValThrAspLeuProLysLysProProProProG luValThrAspLeuProLysLysProProProProGluValThrAspLeu ProLysLysProProProProGluValThrAspLeuProLysLysProPr oProProGluValThrAspLeuProLysLysPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	405/2195	356/2013	119/670			chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(209): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAG GTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp1 HG02572.hp1 HG02572.hp2 others(5): Show HG02145.hp1 HG02572.hp1 HG02572.hp2 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp1 NA19030.hp1	a0010 a0022 a0061 a0010 a0022 a0061	a0010c0010 a0022c0040 a0022c0041 others(1): Show a0010c0010 a0022c0040 a0022c0041 a0061c0074	a0010c0010t0002 a0022c0040t0001 a0022c0041t0001 others(1): Show a0010c0010t0002 a0022c0040t0001 a0022c0041t0001 a0061c0074t0002	a0010c0010t0002g0243 a0010c0010t0002g0244 a0010c0010t0002g0245 others(5): Show a0010c0010t0002g0243 a0010c0010t0002g0244 a0010c0010t0002g0245 a0010c0010t0002g0246 a0010c0010t0002g0247 a0022c0040t0001g0167 a0022c0041t0001g0065 a0061c0074t0002g0183	8	422	0.0190	216	c.217 others(223): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAG GTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(227): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670			chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2121922	A A	AGTTAGGG others(209): Show AGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAG CGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGTGGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	286	0.0035	216	c.335 others(235): Show c.335-13335_335-13334insGGTCACGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTGGTTAG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122948	C C	CGGTGGTA others(209): Show CGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACA GCGATAGTTAGCGTCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	286	0.0035	216	c.335 others(235): Show c.335-12301_335-12300insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122952	G G	GGTAGTTA others(209): Show GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCACGGCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	286	0.0035	216	c.335 others(235): Show c.335-12297_335-12296insCGGCTGTAGTTAGGGTCACGGCGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124246	G G	GGTAGTTA others(209): Show GGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	286	0.0035	216	c.335 others(235): Show c.335-11014_335-11013insAGTTAGGATCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGAT AGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKX_chrX_3599340_3718649	3639300	G G	GGGGGGTG others(209): Show GGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGT GGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGATTGAATGAAGGGG TGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGA GGGGTGGGGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGG TGGATGGATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0176 a0001c0002t0010g0176	1	227	0.0044	216	c.719 others(233): Show c.719+2551_719+2552insACCCCTTCATCCATCCACCCCCACCCCT TCATCCATCCATGCACCCACCCCCCCACCCCCCCACCCCTCTACCCCTTC ATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATTC AATCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATT CAATCATCCATCCACCCACCCTTCATCCATCCACCCCC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PTK6_chr20_63523001_63542376	63535956	C C	CTCCTCTC others(209): Show CTCCTCTCCTGGCCTCCCGCCCCCCCCCCCTCACCTGGCCTCCCGCCCCC TCCTCACCTGGCCTCCCGCCCCCCTCCTCACCTGGCCTCCCGCCCCCCCC CCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCC TCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCAC CTGGCCTCCCACCCCGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0216 a0001c0002t0003g0216	1	344	0.0029	216	c.231 others(231): Show c.231-898_231-897insACGGGGTGGGAGGCCAGGTGAGGGGGGGGC GGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGG GAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGGGA GGCCAGGTGAGGAGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGC CAGGTGAGGGGGGGGGGGCGGGAGGCCAGGAGAGGA		PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7						chr20	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(209): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCT CCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCC CCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	94	0.0106	216	c.191 others(237): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCACTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCT GCTCCCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCC CTCTCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(209): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCT CCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCC CCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	94	0.0106	216	c.191 others(237): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCTCTCCACT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCT GCTCCCCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCC CTCTCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61987705	T T	TAAAATTC others(209): Show TAAAATTCCTATTTTGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0076 a0003c0004t0007g0076	1	94	0.0106	216	c.191 others(233): Show c.191-1905_191-1904insTACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTATTTTG		PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr3	TogoVar
PTTG1IP_chr21_44844598_44878690	44863137	A A	ACCACAGC others(209): Show ACCACAGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA CACACAGCCCGCCACGGCCTCGGCAACACAGAGACACAGCCCACCACGGC CTCAGCAGCAGAGACACAGCCCACCACGGCCTCGGCAACACAGAGACACA GCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCGGCAA CACAGAGACACAGCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp1 others(67): Show HG00099.hp1 HG00438.hp1 HG00544.hp1 HG00733.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18939.hp2 NA18950.hp2 NA18954.hp2 NA18963.hp2 NA18971.hp1 NA18983.hp1 NA18989.hp1 NA19000.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0004c0004t0002	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0029 others(51): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0004g0012 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0096 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0008g0128 a0001c0001t0009g0102 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0116 a0001c0001t0012g0032 a0001c0001t0012g0088 a0001c0001t0013g0031 a0001c0001t0015g0129 a0001c0001t0015g0130 a0001c0001t0017g0028 a0001c0001t0019g0313 a0001c0001t0019g0314 a0001c0001t0023g0105 a0001c0001t0024g0095 a0001c0001t0033g0312 a0004c0004t0002g0103	70	444	0.1577	216	c.169 others(233): Show c.169-1867_169-1866insCGGGCTGTGTCTCTGTGTTGCCGAGGCC GTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGT GTTGCCGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGG CTGTGTCTCTGTGTTGCCGAGGCCGTGGCGGGCTGTGTGTCTGCTGCTGA GGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCTGTGG		PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5						chr21	TogoVar
PWWP2B_chr10_132392200_132422859	132392492	A A	AATGGTGA others(209): Show AATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGG TAATGGTGATGGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	374	0.0027	216	c.-47 others(227): Show c.-4735_-4734insATGGTGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGATGGTGGTGGTAATGGTGATGGTGATG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4707		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGAGACC others(209): Show GGGAGACCCGAGGCCGCCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCC AGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGAC CCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCC CTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGC CGTCCAGGGCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0085 a0001c0001t0042g0085	1	295	0.0034	216	c.126 others(235): Show c.1265+3462_1265+3463insAGACCCGAGGCCGCCCAGGGCCCCTC CCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCCGT CCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAG ACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGC CCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGG		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	510037	C C	CCCGTGCC others(209): Show CCCGTGCCTCTGGGCTCTGAGCGCACGCGTTGTGTGTAGTGGCCCTGGCA CCTCCACGCCCCGTCCCGAGTCCCCGTGCCTCTGGGCTCTGAGCGCACTC GTTGTGTGTAGTGGCCCTGGCACCTCCACGCCCCGTCCCGAGTCCCCGTG CCTCTGGGCTCTGAGCGCACGCGTTGTGTGTAGTGGCCCTGGCACCTCCA CGCCCCGTCCCGAGGCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 NA18939.hp2 others(1): Show HG00438.hp2 HG00597.hp2 NA18939.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0229	4	295	0.0136	216	c.150 others(233): Show c.1500-580_1500-365dupCCTGGCACCTCCACGCCCCGTCCCGAGT CCCCGTGCCTCTGGGCTCTGAGCGCACTCGTTGTGTGTAGTGGCCCTGGC ACCTCCACGCCCCGTCCCGAGTCCCCGTGCCTCTGGGCTCTGAGCGCACG CGTTGTGTGTAGTGGCCCTGGCACCTCCACGCCCCGTCCCGAGGCTCCGT GCCTCTGGGCTCTGAGCGCACGCGTTGTGTGTAGTGGC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	631760	T T	TCCTCTCC others(209): Show TCCTCTCCTATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCAC CCCATCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCAC TTCTTCCATCCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCT CCTATCCACTCCTCCCATCCACTTTTTCCATCCTCTTCTCTCACCCCGTC ACTGCCTCTCCTCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	350	0.0029	216	c.41 others(227): Show c.4138_*4139insCCTCTCCTATCCACTCCTCCCATCCACTTCTTCC ATCCTCTTCTCCCACCCCATCACTGCCTCTCCTTCCATCCTCTCCTATCC ACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCATCACTGCCT CTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTTTTCCATCCTC TTCTCTCACCCCGTCACTGCCTCTCCTCCCAC		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding					2493		chr16	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(209): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCCCACCATCCCCATCAGGCTCACCAGGCCCACCATCCCCAC CAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCC CCACCAGGCCTACCAGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03710.hp1 HG03239.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0062 a0001c0004t0002g0148 a0001c0001t0002g0062 a0001c0004t0002g0148	2	330	0.0061	216	c.397 others(229): Show c.397-73_397-72insCCTGGTAGGCCTGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGAGCCTGATGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGT GGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGG		RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5						chr1	TogoVar

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Search Results (Total: 10000 hits)