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
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(302): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0308 a0001c0001t0006g0308	1	362	0.0028	309	c.-74 others(326): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(302): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	356	0.0028	309	c.91+ others(322): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(302): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	356	0.0028	309	c.91+ others(322): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(302): Show CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGT GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	356	0.0028	309	c.91+ others(322): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961329	T T	TGATCCAC others(302): Show TGATCCACACTCTAGCCTCACAACCATCACACTAACTATCAGAAACCTCT CACTACCACACAACCACCTCTCTAACTACTCAAGCTCACACTCTTCACTA TCCGTTACCTCTATTACTACTATAGTCCACACACTACCCACTCAACCACC ACATATAACTGACACAACCACACACTACCCACACTACCACCACACGTAAC TATCTAAGAACACTCACGACCCACACTACCACCACACGTAACTACTCTAC CTACTATCGTACCCTCTACTAACCTACTAGTAACCAGTCTAAACCTCCCA CCCTACCTAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0014 a0010c0008t0014	a0010c0008t0014g0055 a0010c0008t0014g0055	1	422	0.0024	309	c.195 others(326): Show c.195+1795_195+1796insGTAGGTAGGGTGGGAGGTTTAGACTGGT TACTAGTAGGTTAGTAGAGGGTACGATAGTAGGTAGAGTAGTTACGTGTG GTGGTAGTGTGGGTCGTGAGTGTTCTTAGATAGTTACGTGTGGTGGTAGT GTGGGTAGTGTGTGGTTGTGTCAGTTATATGTGGTGGTTGAGTGGGTAGT GTGTGGACTATAGTAGTAATAGAGGTAACGGATAGTGAAGAGTGTGAGCT TGAGTAGTTAGAGAGGTGGTTGTGTGGTAGTGAGAGGTTTCTGATAGTTA GTGTGATGGTTGTGAGGCTAGAGTGTGGATC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(302): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGAGGGGAGCACTCAG GATCCCTCCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0092 a0001c0002t0005g0092	1	324	0.0031	309	c.140 others(326): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGATCC CCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTC CCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCT CCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCT CCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCGACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535645	T T	TCCCAGGG others(302): Show TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCA GGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTC AGGATCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp2 HG03130.hp1 NA18522.hp2	a0014 a0019 a0014 a0019	a0014c0033 a0019c0039 a0014c0033 a0019c0039	a0014c0033t0003 a0019c0039t0001 a0014c0033t0003 a0019c0039t0001	a0014c0033t0003g0258 a0019c0039t0001g0259 a0014c0033t0003g0258 a0019c0039t0001g0259	2	324	0.0062	309	c.140 others(326): Show c.140+8378_140+8379insGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCTCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC TCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCC CTCCACCCACCCTGCACCCATTGCCCCTGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(302): Show ACTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	384	0.0026	309	c.-6- others(326): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NRG3_chr10_81870194_82992178	82525436	T T	TAAAAATC others(302): Show TAAAAATCAGCTTTCGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG02572.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0004 a0001c0002t0002 a0002c0003t0004	a0001c0002t0002g0038 a0002c0003t0004g0019 a0001c0002t0002g0038 a0002c0003t0004g0019	2	66	0.0303	309	c.953 others(330): Show c.953+166584_953+166585insCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAATCAGCTTTCGT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(302): Show ATATATAATATATATTATATATAAAGTATATATATAATATATATAATATA TATTATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATAAAGTATATATATAATATATATTATATATAAA GTATATATATAATATATATTATATATATATAAAATATATAATATATATTA TATATATAAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18971.hp1 NA19002.hp2 NA18954.hp2 NA18971.hp1 NA19002.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0010c0014 a0002c0004 a0010c0014	a0002c0004t0001 a0010c0014t0001 a0002c0004t0001 a0010c0014t0001	a0002c0004t0001g0128 a0002c0004t0001g0129 a0010c0014t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0010c0014t0001g0127	3	308	0.0097	309	c.730 others(326): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATAATATATATTATATATATTATA TATATACTTTATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(302): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATAAAGTATATATATAATATATATTATATATAAA GTATATATATAATATATATTATATATATATAAAATATATAATATATATTA TATATATAAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0212 a0002c0004t0011g0212	1	308	0.0033	309	c.730 others(326): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATAATATATATTAT ATATATTATATATATACTTTATATATAATATATATTATATATATTATATA TATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(302): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCTC TCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTCCCCTC CCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCC TTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0194 a0001c0001t0009g0194	1	326	0.0031	309	c.433 others(326): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(302): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCACCCTCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0247 a0001c0001t0115g0247	1	326	0.0031	309	c.433 others(326): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGG GAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAG GGGAGGGTGGGAGGGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(302): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	360	0.0028	309	c.-30 others(320): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(302): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0115 a0003c0003t0003g0115	1	276	0.0036	309	c.150 others(324): Show c.1500+45_1500+46insATTTATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCC GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(302): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGG CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01192.hp1 HG02738.hp1 others(1): Show HG01167.hp2 HG01192.hp1 HG02738.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0109 others(1): Show a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0109 a0002c0002t0001g0118	4	338	0.0118	309	c.374 others(324): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NUP210L_chr1_153987690_154160073	154151282	T T	TTCATTGA others(302): Show TTCATTGATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	290	0.0035	309	c.340 others(326): Show c.340+1453_340+1454insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAATCAATGA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	2/39			chr1	TogoVar
NXN_chr17_794310_984776	841381	T T	TGCATCTC others(302): Show TGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCATGGAGCATCT CACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	242	0.0041	309	c.361 others(328): Show c.361-15304_361-15303insTCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCG GGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCTCCATGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841407	C C	CCCCTGAC others(302): Show CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCTGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCA GGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGA CCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATC TCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCG AGCAGGTCCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	242	0.0041	309	c.361 others(328): Show c.361-15330_361-15329insTGGACCTGCTCGCCCGTGTGAGATGC TCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGG GAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCT TGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGAGGACC TGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCCCCCT others(302): Show TCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACC ACGGTGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCAAG CAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCC GACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGC ATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGG CGAGCAGGTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0223 a0001c0003t0001g0223	1	242	0.0041	309	c.361 others(328): Show c.361-15366_361-15365insGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGC GGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTTGCCCGTGTGAGAT GCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCA GGGTGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCGGGAGGACCTGC TCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841455	C C	CGGAGCAT others(302): Show CGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGC AGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCG ACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGG CGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCC TCCCGACCAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	242	0.0041	309	c.361 others(328): Show c.361-15378_361-15377insATGGTCGGGAGGACCTGCTCGCGGGT GTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG GGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCG CGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGA TGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCTCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841484	C C	CCCCGACC others(302): Show CCCCGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACG GAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACG CCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAG GTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGA CCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCAT CTCACACCCACAGGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCA AGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	242	0.0041	309	c.361 others(328): Show c.361-15407_361-15406insTGGACCTGCTTGCCCGTGTGAGATGC TCTGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGG GGGGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCT CGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGA GATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATG GTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGAC CTGCTCGCCGGCGTGAGATGCTCCGTGGTCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR4N2_chr14_19798770_19835253	19813844	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGC CCGCCACCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp1 HG02071.hp2 others(22): Show HG01109.hp1 HG01257.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02630.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG04115.hp2 NA18747.hp1 NA18950.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA19068.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0011	a0001c0001 a0002c0002 a0006c0005 others(2): Show a0001c0001 a0002c0002 a0006c0005 a0007c0008 a0011c0013	a0001c0001t0025 a0002c0002t0002 a0002c0002t0010 others(3): Show a0001c0001t0025 a0002c0002t0002 a0002c0002t0010 a0006c0005t0002 a0007c0008t0007 a0011c0013t0029	a0001c0001t0025g0132 a0002c0002t0002g0009 a0002c0002t0002g0022 others(16): Show a0001c0001t0025g0132 a0002c0002t0002g0009 a0002c0002t0002g0022 a0002c0002t0002g0101 a0002c0002t0010g0033 a0002c0002t0010g0098 a0002c0002t0010g0100 a0006c0005t0002g0009 a0006c0005t0002g0099 a0006c0005t0002g0102 a0006c0005t0002g0103 a0006c0005t0002g0104 a0006c0005t0002g0105 a0006c0005t0002g0106 a0007c0008t0007g0142 a0007c0008t0007g0143 a0007c0008t0007g0144 a0007c0008t0007g0145 a0011c0013t0029g0123	25	274	0.0912	309	c.-10 others(328): Show c.-10+10011_-10+10012insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCACCTTTTTTTTTTT	OR4N2	ENSG00000176294.6	transcript	ENST00000557677.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(302): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp1 HG03486.hp1 others(2): Show HG02886.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1	a0001 a0013 a0001 a0013	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0001c0042 a0013c0044	a0001c0003t0005 a0001c0004t0031 a0001c0005t0012 others(2): Show a0001c0003t0005 a0001c0004t0031 a0001c0005t0012 a0001c0042t0012 a0013c0044t0007	a0001c0003t0005g0347 a0001c0004t0031g0331 a0001c0005t0012g0332 others(2): Show a0001c0003t0005g0347 a0001c0004t0031g0331 a0001c0005t0012g0332 a0001c0042t0012g0333 a0013c0044t0007g0346	5	356	0.0140	309	c.92+ others(324): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PCBP3_chr21_45638725_45947450	45909853	G G	CCCACCCA others(302): Show CCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATA CGGACCCCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	292	0.0034	309	c.471 others(321): Show c.471+367delGinsCCCACCCACTGCCCAGATACGGACCCGGCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGG ACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCTCC ACCCACTGCCCAGATACGGACCCCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92550269	T T	TAAAAAGC others(302): Show TAAAAAGCATATTAGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGG CGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACT CCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18995.hp1 HG03710.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0125 a0001c0001t0001g0131	2	154	0.0130	309	c.336 others(330): Show c.3368-67982_3368-67981insGCCGGGCGTGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCG CGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATTA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCSK5_chr9_75885673_76367975	76280866	T T	TAAAAAAG others(302): Show TAAAAAAGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp1 others(4): Show HG01069.hp1 HG01071.hp2 HG01884.hp1 HG02897.hp2 HG02965.hp2 HG03225.hp2 HG03486.hp2	a0004 a0013 a0023 others(2): Show a0004 a0013 a0023 a0040 a0045	a0004c0006 a0004c0035 a0013c0029 others(3): Show a0004c0006 a0004c0035 a0013c0029 a0023c0093 a0040c0082 a0045c0096	a0004c0006t0012 a0004c0035t0047 a0013c0029t0009 others(3): Show a0004c0006t0012 a0004c0035t0047 a0013c0029t0009 a0023c0093t0004 a0040c0082t0001 a0045c0096t0039	a0004c0006t0012g0143 a0004c0006t0012g0144 a0004c0035t0047g0130 others(4): Show a0004c0006t0012g0143 a0004c0006t0012g0144 a0004c0035t0047g0130 a0013c0029t0009g0119 a0023c0093t0004g0051 a0040c0082t0001g0075 a0045c0096t0039g0009	7	166	0.0422	309	c.314 others(330): Show c.3143-11357_3143-11356insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDIA2_chr16_278164_292215	285902	T T	TCCCAACC others(302): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0002 a0017c0038t0002	a0017c0038t0002g0057 a0017c0038t0002g0057	1	436	0.0023	309	c.111 others(326): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACACCAACC CCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTC TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDSS1_chr10_26692701_26751798	26702234	T T	TGAGTTAA others(302): Show TGAGTTAAGACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGACCTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp1 HG02280.hp2 others(9): Show HG01192.hp2 HG02257.hp1 HG02280.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0140 a0001c0001t0001g0141 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0003g0143	12	416	0.0289	309	c.162 others(322): Show c.162+54_162+55insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGAGTTAAGACTTTT	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS1_chr10_26692701_26751798	26702234	T T	TGAGTTAA others(302): Show TGAGTTAAGACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp2 NA18522.hp2 HG02965.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152	3	416	0.0072	309	c.162 others(322): Show c.162+54_162+55insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGAGTTAAGACTTTT	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIGK_chr1_77083989_77224430	77168629	T T	TAAAATTG others(302): Show TAAAATTGCTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0034 a0001c0001t0008g0034	1	366	0.0027	309	c.375 others(324): Show c.375+630_375+631insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTGAAGCAATTTT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	4/10			chr1	TogoVar
PIGU_chr20_34555542_34682092	34670506	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	320	0.0031	309	c.130 others(326): Show c.130+6449_130+6450insGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCA TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	1/11			chr20	TogoVar
PINX1_chr8_10759961_10844875	10781958	T T	TAAAGAAA others(302): Show TAAAGAAACTGTGGTGTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0088 a0001c0006t0001g0088	1	352	0.0028	309	c.472 others(328): Show c.472-16043_472-16042insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCACACCACAGTTTCTTT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(302): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0113	1	216	0.0046	309	c.173 others(326): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401613	G G	GCCCCGCT others(302): Show GCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCGGACCC CGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCT CACCCCCGCCCCGCTCACCCCCGCCCCGCTCACTCCCGGACCCCGCTCAC CCCCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCTCACCCCC GCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCCGCTCACCCCCCGCCCC GCTCACCCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0069 a0001c0004t0001g0069	1	216	0.0046	309	c.173 others(326): Show c.1737+908_1737+909insCCCCGCTCACCCCCGGCCCGCTCACACC CGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGAC CCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGC TCACTCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTC ACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCC GGACCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCG CCCCCGCTCACCCCCCGCCCCGCTCACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PNPLA7_chr9_137454952_137555402	137517968	T T	TCACTCCA others(302): Show TCACTCCATCCCCCACTCACTCACTCGACTCTGTCCACTCCATCCCCCAC TCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTG TCCACTCCATCCCTCACTCACTCACTCCACTCTGTCCACTCCATCCCCCA CTCACGCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCC ACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCAT CCCTCATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACT CCACTCTGTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0039 a0001c0043t0001g0039	1	188	0.0053	309	c.108 others(328): Show c.1084+1948_1084+1949insGACAGAGTGGAGTCAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGGACAGAGT GGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGGACAGAGTGGAGTGAGTGCGTGAGTGGGGGATGGAGTGGA CAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTGGAGTGAGTG ACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGG ACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518209	T T	TCACTCCA others(302): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCTCAT TCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACTCCACTCT GTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCC ACTCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACT CTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCCCT CACTCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACGCACTCACT CCACTCTGTC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	188	0.0053	309	c.108 others(328): Show c.1084+1707_1084+1708insGACAGAGTGGAGTGAGTGCGTGAGTG GGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACA GAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGT GGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTGAGC AGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTCAGTGA GTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGG ACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPARA_chr22_46145526_46248755	46227138	A A	AATGTGCT others(302): Show AATGTGCTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02622.hp2 others(1): Show HG01884.hp1 HG02486.hp1 HG02622.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0016 a0001c0001t0064 a0001c0001t0010 a0001c0001t0016 a0001c0001t0064	a0001c0001t0010g0040 a0001c0001t0016g0160 a0001c0001t0016g0194 others(1): Show a0001c0001t0010g0040 a0001c0001t0016g0160 a0001c0001t0016g0194 a0001c0001t0064g0159	4	200	0.0200	309	c.712 others(326): Show c.712-4638_712-4637insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGATGTGCTTCATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46227138	A A	AATGTGCT others(302): Show AATGTGCTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02818.hp1 others(2): Show HG01884.hp2 HG02572.hp2 HG02818.hp1 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0057 a0001c0001t0075 a0001c0001t0014 a0001c0001t0057 a0001c0001t0075	a0001c0001t0014g0046 a0001c0001t0014g0048 a0001c0001t0014g0077 others(2): Show a0001c0001t0014g0046 a0001c0001t0014g0048 a0001c0001t0014g0077 a0001c0001t0057g0157 a0001c0001t0075g0006	5	200	0.0250	309	c.712 others(326): Show c.712-4638_712-4637insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGATGTGCTTCATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP1R21_chr2_48435766_48520386	48502400	T T	TAAAAAGA others(302): Show TAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0335 a0001c0003t0028g0335	1	372	0.0027	309	c.193 others(328): Show c.1936-3156_1936-3155insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAG	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(302): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGGGGCCCCGC GGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03669.hp1 HG01255.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0317 a0001c0001t0001g0062 a0001c0001t0001g0317	2	358	0.0056	309	c.30 others(320): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCGC CGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCCGCCGCC GCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGCGCCCCC CTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCGCGCCCC TGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCGCCCCCG GCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCGGGAGCCGCC GCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(302): Show CCGGCGGCTGTGGCGGCGGCGGCTCCCGGGCGGCGACGGCGGGCGGGGGG GCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGCGGCTGGCGC GGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGGGGCCCGGCT GCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCGGCCGCGCGG GGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGGTGGCGGCGG GGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGGGGGCCCCGC GGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02622.hp1 HG02602.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0313 a0001c0001t0001g0291 a0001c0001t0001g0313	2	358	0.0056	309	c.30 others(320): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGG CCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTG GCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCG GGAGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2106871	C C	CCCTCCGG others(302): Show CCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAG GTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCA CCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCAC ACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAG GACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGG TGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp2 HG03669.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0233 a0001c0003t0001g0088 a0001c0002t0001g0233 a0001c0003t0001g0088	2	286	0.0070	309	c.335 others(328): Show c.335-28386_335-28385insGGTGGGCGAGGACCTCCATGCGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA TGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGA GGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCG GTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAG GCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACT CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122647	G G	GTCACAGC others(302): Show GTCACAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATA GTTAGCGTCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	286	0.0035	309	c.335 others(328): Show c.335-12614_335-12613insCACAGCGATAGTTAGCGTCATGGTGG TGGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACAGCGATAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(302): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCC CCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	227	0.0044	309	c.23 others(320): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTP4A3_chr8_141387021_141437454	141429985	A A	AGGACCAG others(302): Show AGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCG CTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCCGGTGGCTGGGGACAGGGTGAGCGTACAGCCCAGGTTT CCGCTGTAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	323	0.0031	309	c.405 others(324): Show c.405-935_405-934insATGGCGGGGACAGGGTGAGCACACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCCGGTGGCTGGGGACAGGGTGAGCGTA CAGCCCAGGTTTCCGCTGTAAGGGACCAG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPRG_chr3_61556571_62302609	61909689	A A	ACTGAAGT others(302): Show ACTGAAGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp1 HG02896.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0016 a0001c0019t0001 a0001c0001t0016 a0001c0019t0001	a0001c0001t0016g0029 a0001c0019t0001g0069 a0001c0001t0016g0029 a0001c0019t0001g0069	2	94	0.0213	309	c.191 others(328): Show c.191-79926_191-79925insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGAAGTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(302): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCGCCCCGCCCCAGCCTCATCGCG CCACACCCCA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0105 a0001c0002t0005g0105	1	392	0.0026	309	c.329 others(326): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGC TGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCC TCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTG GGGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCC AAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGG GGCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(302): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCCAGCTCCACT GCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTG GTCTCCACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCG CCACACCCCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	392	0.0026	309	c.329 others(326): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGGCC TCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTG GGGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCC AAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGG GGCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(302): Show TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	295	0.0034	309	c.126 others(328): Show c.1265+3387_1265+3388insGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)