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
NOC4L_chr12_132139457_132157468	132149623	A A	ACCACACC others(303): Show ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	294	0.0034	310	c.901 others(325): Show c.901+765_901+766insGCTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPAS3_chr14_32933879_33809173	33586234	A A	ATCAGATG others(303): Show ATCAGATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0030 a0001c0001t0046g0030	1	92	0.0109	310	c.558 others(329): Show c.558+26035_558+26036insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGTCAGATGTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRDE2_chr14_90262860_90336941	90282319	T T	TAAAAAAA others(303): Show TAAAAAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGC GCCACTGCACTCCAGTCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0107 a0001c0003t0107	a0001c0003t0107g0310 a0001c0003t0107g0310	1	344	0.0029	310	c.329 others(329): Show c.3298-3187_3298-3186insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGTTTTTTTT	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	12/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664490	C C	CCTCCCCT others(303): Show CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0123 a0001c0001t0031g0123	1	326	0.0031	310	c.433 others(327): Show c.433+1030_433+1031insAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGG GGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(303): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01517.hp1 HG03490.hp2 others(1): Show HG01168.hp1 HG01517.hp1 HG03490.hp2 HG03492.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0003 a0004c0004t0009 a0001c0001t0001 a0003c0003t0003 a0004c0004t0009	a0001c0001t0001g0003 a0003c0003t0003g0185 a0004c0004t0009g0008 a0001c0001t0001g0003 a0003c0003t0003g0185 a0004c0004t0009g0008	4	360	0.0111	310	c.-30 others(321): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(303): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATAAAAAAA AAAATAAAAAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0003 a0009c0016t0003	a0009c0016t0003g0116 a0009c0016t0003g0116	1	276	0.0036	310	c.150 others(325): Show c.1500+45_1500+46insATTTTTATTTTTTTTTTTATTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC CGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(303): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG GCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG02965.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0108 a0002c0002t0001g0041 a0002c0002t0001g0108	2	338	0.0059	310	c.374 others(325): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NXN_chr17_794310_984776	841586	C C	CCACAGGC others(303): Show CCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	242	0.0041	310	c.361 others(329): Show c.361-15509_361-15508insCATGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659296	A A	AAGAAAGA others(303): Show AAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAGAAAGA AAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	296	0.0034	310	c.-17 others(319): Show c.-177_-176insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTTTCTTTCT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		142		chr13	TogoVar
ODF3L2_chr19_458361_479983	466894	G G	GGGTGGAG others(303): Show GGGTGGAGGGTGGATGGACGGGTGGATAGATGGTTGGGTGGAGGGTGGAT GGGCGGGTGGATAGATGGATGGGTGGGTGGTTGGGTGGGTGGGTAGATGG ATGAGTGTATGGACGGGTGGATAGATGGTTGGGTGGAGGGTGGAAGGATG GGTGGATAGATGGATGGGTGGGTGGGTGGGTGGATGGATGAGTGGATGGA CGGTGGATAGATAGTTGGGTGGAGGGTGGATGGGCGGGTGGATAGATGGA TGGGTGGGTGGTTGGGTGGGTGGGTGGATGGATGAATGGATGGACGGGTG GAAAGATGGTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	324	0.0031	310	c.349 others(325): Show c.349+754_349+755insAACCATCTTTCCACCCGTCCATCCATTCAT CCATCCACCCACCCACCCAACCACCCACCCATCCATCTATCCACCCGCCC ATCCACCCTCCACCCAACTATCTATCCACCGTCCATCCACTCATCCATCC ACCCACCCACCCACCCATCCATCTATCCACCCATCCTTCCACCCTCCACC CAACCATCTATCCACCCGTCCATACACTCATCCATCTACCCACCCACCCA ACCACCCACCCATCCATCTATCCACCCGCCCATCCACCCTCCACCCAACC ATCTATCCACCCGTCCATCCACCCTCCACC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	3/3			chr19	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCA others(303): Show TCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCCTTTCCCTCC CTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTC CTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCT CCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCT CCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCC TTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG03516.hp1 HG00639.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0201 a0001c0003t0003g0181 a0001c0001t0002g0201 a0001c0003t0003g0181	2	350	0.0057	310	c.-15 others(321): Show c.-1513_-1512insCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTC CTCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCC CTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTC CCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTG CCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCT TTCCTCCCTCCCTCCTTCCCTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(303): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG03453.hp2 HG02965.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0013 a0001c0010t0007 a0001c0010t0035 a0001c0003t0013 a0001c0010t0007 a0001c0010t0035	a0001c0003t0013g0336 a0001c0010t0007g0335 a0001c0010t0035g0334 a0001c0003t0013g0336 a0001c0010t0007g0335 a0001c0010t0035g0334	3	356	0.0084	310	c.92+ others(325): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(303): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCC CCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTC CCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCC CTCCCCCTTCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCC CTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0154 a0001c0006t0003g0154	1	308	0.0033	310	c.226 others(329): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCCTCCTC CCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCT CCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCC CCCCTCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTTCCC TCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTC CCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(303): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0115 a0001c0002t0006g0115	1	156	0.0064	310	c.196 others(331): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARD3B_chr2_204540475_205625162	204648652	A A	AATATATT others(303): Show AATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATATATATCATATAAATAATATATAT TTATAATATATATCATATAAATAATATATATTTATAATATATATCATATA AATAATATATATTTATAATATATATCATATAAATAATATATATTTATAAT ATATATCATATAAATAATATATATTTATAATATATATCATATAAATAATA TATATTTATAATATATATCATATAAATAATATATATTTATAATATATATC ATATAAATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02886.hp1 others(1): Show HG02257.hp2 HG02723.hp2 HG02886.hp1 HG03130.hp2	a0002 a0006 a0009 a0002 a0006 a0009	a0002c0003 a0002c0015 a0006c0014 others(1): Show a0002c0003 a0002c0015 a0006c0014 a0009c0025	a0002c0003t0016 a0002c0015t0006 a0006c0014t0011 others(1): Show a0002c0003t0016 a0002c0015t0006 a0006c0014t0011 a0009c0025t0022	a0002c0003t0016g0046 a0002c0015t0006g0024 a0006c0014t0011g0023 others(1): Show a0002c0003t0016g0046 a0002c0015t0006g0024 a0006c0014t0011g0023 a0009c0025t0022g0009	4	54	0.0741	310	c.121 others(329): Show c.121-37453_121-37452insTATATCATATAAATAATATATATTTA TAATATATATCATATAAATAATATATATTTATAATATATATCATATAAAT AATATATATTTATAATATATATCATATAAATAATATATATTTATAATATA TATCATATAAATAATATATATTTATAATATATATCATATAAATAATATAT ATTTATAATATATATCATATAAATAATATATATTTATAATATATATCATA TAAATAATATATATTTATAATATATATCATATAAATAATATATATTTATA ATATATATCATATAAATAATATATATTTATAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(303): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19067.hp1 HG01978.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0221 a0001c0001t0012g0245 a0001c0001t0003g0221 a0001c0001t0012g0245	2	366	0.0055	310	c.494 others(327): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAATTTTA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	92550269	T T	TAAAAAGC others(303): Show TAAAAAGCATATTAGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGG CGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACT CCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19079.hp1 NA19012.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0071 a0001c0001t0013g0089 a0001c0001t0001g0071 a0001c0001t0013g0089	2	154	0.0130	310	c.336 others(331): Show c.3368-67982_3368-67981insGCCGGGCGTGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCG CGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATTA	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(303): Show TAAAAAAGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0066 a0005c0066	a0005c0066t0002 a0005c0066t0002	a0005c0066t0002g0016 a0005c0066t0002g0016	1	166	0.0060	310	c.314 others(331): Show c.3143-11357_3143-11356insGGCCGGGCGCGGTGGCTCACGCCT GTAAGCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76280866	T T	TAAAAAAG others(303): Show TAAAAAAGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02723.hp1 others(3): Show HG02109.hp2 HG02258.hp1 HG02723.hp1 HG03130.hp1 HG06807.hp2 NA20129.hp1	a0003 a0009 a0013 others(3): Show a0003 a0009 a0013 a0015 a0027 a0039	a0003c0057 a0009c0011 a0013c0087 others(3): Show a0003c0057 a0009c0011 a0013c0087 a0015c0023 a0027c0039 a0039c0064	a0003c0057t0018 a0009c0011t0004 a0013c0087t0040 others(3): Show a0003c0057t0018 a0009c0011t0004 a0013c0087t0040 a0015c0023t0004 a0027c0039t0014 a0039c0064t0001	a0003c0057t0018g0056 a0009c0011t0004g0052 a0013c0087t0040g0098 others(3): Show a0003c0057t0018g0056 a0009c0011t0004g0052 a0013c0087t0040g0098 a0015c0023t0004g0005 a0027c0039t0014g0126 a0039c0064t0001g0061	6	166	0.0361	310	c.314 others(331): Show c.3143-11357_3143-11356insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDGFD_chr11_103902189_104169147	103983451	T T	TAAAACTA others(303): Show TAAAACTAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	200	0.0050	310	c.510 others(329): Show c.510+12613_510+12614insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTTTTTAGTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104140465	T T	TAAAACAT others(303): Show TAAAACATGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGCGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	200	0.0050	310	c.124 others(329): Show c.124+23338_124+23339insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCGCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTGAACATGTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104140465	T T	TAAAACAT others(303): Show TAAAACATGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp1 HG02622.hp2 others(7): Show HG00408.hp1 HG02040.hp1 HG02622.hp2 HG02809.hp2 HG02970.hp2 HG03471.hp2 NA19062.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0012	a0001c0001t0002g0132 a0001c0001t0003g0120 a0001c0001t0003g0128 others(7): Show a0001c0001t0002g0132 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0148 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0012g0147	10	200	0.0500	310	c.124 others(329): Show c.124+23338_124+23339insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTGAACATGTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDS5B_chr13_32581452_32783019	32605014	C C	CAAAAAAA others(303): Show CAAAAAAACCAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	334	0.0030	310	c.-20 others(329): Show c.-20+18432_-20+18433insGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAG	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32731543	T T	TAACATAA others(303): Show TAACATAACATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02723.hp2 others(3): Show HG02572.hp1 HG02615.hp2 HG02723.hp2 HG03579.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0038 a0001c0001t0008 a0001c0001t0017 a0001c0001t0038	a0001c0001t0008g0297 a0001c0001t0008g0301 a0001c0001t0008g0310 others(3): Show a0001c0001t0008g0297 a0001c0001t0008g0301 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0017g0302 a0001c0001t0038g0309	6	334	0.0180	310	c.212 others(327): Show c.2124-548_2124-547insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAACATAACAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGCT others(303): Show GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0107 a0001c0001t0097g0107	1	358	0.0028	310	c.143 others(325): Show c.143-312_143-311insCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX10_chr1_2398974_2417564	2401350	T T	TCCCTCCT others(303): Show TCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCC TCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCC CTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCCCTC CCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCC TTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCC TCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0036 a0001c0002t0004g0036	1	358	0.0028	310	c.44 others(321): Show c.4415_*4416insGGAGGGAGGGAGGAAGGAGGGAGGAGGAGGGAGG AAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGG AGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGA GGGGGAGGAGGGAGGAGGAGGAAGCAGGGAGGAGGAGGGAGGAAGAAGGG AGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAG GAGGAAGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAG GAGGGAGGAAGAAGGGAGGAGGAGGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2623		chr1	TogoVar
PIEZO2_chr18_10665247_11154569	10911130	G G	GAAATTAC others(303): Show GAAATTACTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA20805.hp1 HG00639.hp2 NA20805.hp1	a0012 a0030 a0012 a0030	a0012c0079 a0030c0091 a0012c0079 a0030c0091	a0012c0079t0002 a0030c0091t0001 a0012c0079t0002 a0030c0091t0001	a0012c0079t0002g0122 a0030c0091t0001g0019 a0012c0079t0002g0122 a0030c0091t0001g0019	2	158	0.0127	310	c.329 others(323): Show c.329+55_329+56insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCAGTAATTT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(303): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGGAAGAGGGGAGGGGAGGAGATGG GAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAAGAGGGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGAGGGAGAGGAGGAGGGAAGGGGGAAGAGGGGAT GGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	312	0.0032	310	c.53 others(321): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGGAAGAGGG GAGGGGAGGAGATGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAAGAGGGGGAGGGGAGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGAGAGGAGGAGGGAA GGGGGAAGAGGGGATGGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(303): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGGAAGAGGGGAGGGGAGGAGATGG GAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAAGAGGGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGAGGGAGAGGAGGAGGGAAGGGGGAAGAGGGGAT GGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0045 a0001c0001t0066g0045	1	218	0.0046	310	c.262 others(325): Show c.2620-82_2620-81insTTCCCCTCCCCATCCCCTCTTCCCCCTTCC CTCCTCCTCTCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCC TCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCTCCCCTCCCCCTCTTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCCTCCCATCTCCTCCCCTCCCCT CTTCCCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKN2_chr1_88679273_88841255	88753699	T T	TACACACT others(303): Show TACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0034 a0001c0005t0014g0035 a0001c0005t0014g0034 a0001c0005t0014g0035	2	330	0.0061	310	c.350 others(327): Show c.350-6513_350-6512insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGACACACTTTT	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	401535	C C	CGCCCCGC others(303): Show CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCC CCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCC GCTCACCCCCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	216	0.0046	310	c.173 others(327): Show c.1737+841_1737+842insACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(303): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGA CTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02129.hp1 NA18987.hp2 HG01516.hp2 HG02129.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0173 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0173	3	378	0.0079	310	c.803 others(325): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(303): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGA CTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	378	0.0027	310	c.803 others(325): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(303): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATAATATATTATATATAATATATTATATATA ATATATTATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	286	0.0035	310	c.-50 others(321): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATATTATATATAATATATTATATATAA TATATTATATATAATATATTATATATAATATATTATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATATTATATATAATA TATTATATATAATATAATATATATAAATATATTTTTATATATAATAATTA TATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATAT AAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(303): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT TATATATAATATATTATATATATTATAATATATATAATATATTATATATA TTATAATATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	286	0.0035	310	c.-50 others(321): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATATTATAATATATATAATATATTATATATAT TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAATA TATTATATATAATATAATATATATAAATATATTTTTATATATAATAATTA TATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATAT AAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(303): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT TATATATAATATATTATATATATTATATTATATATAATATATTATATATA TTATAATATATATAATATATTATATATATTATATTATATATAATATATTA TATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	286	0.0035	310	c.-50 others(321): Show c.-5036_-5035insTATATTATATATAATATATTATATATAATATAAT ATATATAATATATTATATATATTATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAATA TATTATATATAATATAATATATATAAATATATTTTTATATATAATAATTA TATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATAT AAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(303): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT TATATATAATATATTATATATATTATATTATATATAATATATTATATATA TTATAATATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18951.hp1 NA18998.hp1 others(2): Show NA18945.hp1 NA18951.hp1 NA18998.hp1 NA19063.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	5	286	0.0175	310	c.-50 others(321): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATATTATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAATA TATTATATATAATATAATATATATAAATATATTTTTATATATAATAATTA TATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATAT AAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137517968	T T	TCACTCCA others(303): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCC ACTCACGCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTC CACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCA TCCCTCATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGAC TCCACTCTGTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0001 a0028c0034t0001	a0028c0034t0001g0077 a0028c0034t0001g0077	1	188	0.0053	310	c.108 others(329): Show c.1084+1948_1084+1949insGACAGAGTGGAGTCAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGGACAGAGT GGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGGACAGAGTGGAGTGAGTGCGTGAGTGGGGGATGGAGTGGA CAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTG AGTGGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTG AGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POGZ_chr1_151397724_151464494	151450812	T T	TCCTCAAA others(303): Show TCCTCAAAAATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02280.hp2 others(4): Show HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02976.hp1 HG03195.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0003 a0001c0002t0001g0191 a0001c0002t0001g0192 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0007g0080	7	320	0.0219	310	c.-2+ others(325): Show c.-2+8339_-2+8340insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAGATTTTTGAGG	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	1/18			chr1	TogoVar
POGZ_chr1_151397724_151464494	151450812	T T	TCCTCAAA others(303): Show TCCTCAAAAATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACTGCGCCCGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	320	0.0031	310	c.-2+ others(325): Show c.-2+8339_-2+8340insCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAGATTTTTGAGG	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	1/18			chr1	TogoVar
POLG_chr15_89311320_89339824	89325045	T T	TGAGTGAG others(303): Show TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGTG AGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0203 a0019c0030t0001g0203	1	398	0.0025	310	c.194 others(327): Show c.1949+404_1949+405insTCTCACTCACTCACTCTCTCTCACTCAC TCACTCACTCTCTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTC ACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCAC TCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCAC TCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCTCACTCACTCAC TCACTCTCTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCACTCACTCACTCTCTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPARA_chr22_46145526_46248755	46227138	A A	AATGTGCT others(303): Show AATGTGCTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0099 a0001c0001t0063g0099	1	200	0.0050	310	c.712 others(327): Show c.712-4638_712-4637insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGATGTGCTTCATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(303): Show GTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAGTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	270	0.0037	310	c.200 others(327): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPHLN1_chr12_42321167_42447181	42405603	T T	TAAAAAGA others(303): Show TAAAAAGAAAACCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG03471.hp1 HG02717.hp1 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0221 a0001c0001t0006g0233 a0001c0001t0006g0116 a0001c0001t0006g0221 a0001c0001t0006g0233	3	376	0.0080	310	c.909 others(327): Show c.909+6623_909+6624insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGAAAACCAT	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPM1L_chr3_160751231_161083902	160945043	T T	TATTATAT others(303): Show TATTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGTT ATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTAT ATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATAT ATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATAT AACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAA CTATATATAAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp2 HG01346.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0040 a0001c0001t0002g0041	2	206	0.0097	310	c.400 others(329): Show c.400-16691_400-16690insTATATATAACTATATATAACATGTTA TATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATA TATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATA TAACTATATATAACATGTTATATATAACTATATATAACATGTTATATATA ACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAAC TATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTA TATATAACATGTTATATATAACTATATATAACAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCZ_chr1_2045411_2190395	2122464	G G	GTGGTGGG others(303): Show GTGGTGGGAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCAC GGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGCGTCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	286	0.0035	310	c.335 others(329): Show c.335-12795_335-12794insTGGGAGTTAGGGTCACGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGG TGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGCGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(303): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	216	0.0046	310	c.-51 others(327): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSMF1_chr20_1113602_1177246	1149837	A A	ACCAGCCT others(303): Show ACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATG TGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGG ATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCAC TGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCT GGATGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTG GGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCAC ACCACTGTACT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0241 a0002c0002t0002g0241	1	326	0.0031	310	c.552 others(329): Show c.552-13083_552-13082insCGTGACCCTGGAGTCCCAACTACTTG AGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGT GAGCCATGATCACACCACTGTACTCCAGCCTGGGCAACATGGTGAAACTC TGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGAGTCCCAACT ACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTT GTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCAACATGGTGA AACTCTGTCTCTATAAATTAGCTGGATGTGGTGG	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1149837	A A	ACCAGCCT others(303): Show ACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATG TGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGG ATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCAC TGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCT GGATGTGGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTG GGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCAC ACCACTGTACT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04115.hp2 HG02735.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0136 a0001c0001t0003g0057 a0001c0001t0003g0136	2	326	0.0061	310	c.552 others(329): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1149893	C C	CGTGACCC others(303): Show CGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02080.hp2 HG03710.hp2 HG01516.hp1 HG02080.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0058 a0001c0001t0003 a0001c0001t0058	a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0058g0143 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0058g0143	3	326	0.0092	310	c.552 others(329): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar

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Search Results (Total: 10000 hits)