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	132150672	A A	ACACCACA others(301): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCACTCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	294	0.0034	308	c.902 others(323): Show c.902-309_902-308insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NPAT_chr11_108152215_108227638	108180542	C C	CAAAAAAT others(301): Show CAAAAAATGACACGTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCGTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0178 a0001c0001t0009g0178	1	350	0.0029	308	c.907 others(325): Show c.907-3453_907-3452insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCG CTCACTGCACGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGTGCCCGGCCACGTGTCATTTTTT	NPAT	ENSG00000149308.17	transcript	ENST00000278612.9	protein_coding	10/17			chr11	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(301): Show AAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	208	0.0048	308	c.-10 others(329): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(301): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02630.hp2 HG03239.hp2 others(1): Show HG00280.hp2 HG02630.hp2 HG03239.hp2 NA19043.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0007 a0001c0001 a0003c0003 a0007c0007	a0001c0001t0001 a0003c0003t0006 a0003c0003t0008 others(1): Show a0001c0001t0001 a0003c0003t0006 a0003c0003t0008 a0007c0007t0001	a0001c0001t0001g0067 a0003c0003t0006g0028 a0003c0003t0008g0030 others(1): Show a0001c0001t0001g0067 a0003c0003t0006g0028 a0003c0003t0008g0030 a0007c0007t0001g0057	4	360	0.0111	308	c.-30 others(319): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0012 a0005c0006t0001g0012	1	276	0.0036	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0011 a0008c0013t0003g0011	1	276	0.0036	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG03098.hp1 others(1): Show HG02809.hp1 HG02886.hp1 HG03098.hp1 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0010 a0005c0006t0001g0014 a0005c0006t0001g0015 others(1): Show a0005c0006t0001g0010 a0005c0006t0001g0014 a0005c0006t0001g0015 a0005c0006t0001g0018	4	276	0.0145	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTATTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATAAAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0013 a0005c0006t0001g0013	1	276	0.0036	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTTTATTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATAAATAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0016 a0005c0006t0001g0016	1	276	0.0036	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTATTTATTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(301): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATAAAATAAA TAAATAAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0017 a0005c0006t0017	a0005c0006t0017g0017 a0005c0006t0017g0017	1	276	0.0036	308	c.150 others(323): Show c.1500+45_1500+46insATTTATTTATTTATTTTATTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(301): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01169.hp2 HG01496.hp1 others(3): Show HG01123.hp2 HG01169.hp2 HG01496.hp1 HG02145.hp2 HG02300.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0044 a0002c0002t0001g0048 others(3): Show a0002c0002t0001g0038 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0217	6	338	0.0178	308	c.374 others(323): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NUP93_chr16_56725129_56855286	56739578	A A	ACACCCCC others(301): Show ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACATCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGG GGGCTGACC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18964.hp2 NA18982.hp1 others(1): Show NA18939.hp2 NA18964.hp2 NA18982.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056	4	378	0.0106	308	c.-14 others(325): Show c.-14-8655_-14-8654insACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	841381	T T	TGCATCTC others(301): Show TGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACA CCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGACC ACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTC ACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCAAG CAGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCC GACCATGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	242	0.0041	308	c.361 others(327): Show c.361-15304_361-15303insTCCATGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATG CTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCG GGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGGGGGGACCTGCT CGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGA GATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGG TCAGGGGGGACCTGCTCGCCGGCGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841407	C C	CCCCTGAC others(301): Show CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATG GAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCA GGTCCCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	242	0.0041	308	c.361 others(327): Show c.361-15330_361-15329insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTC GCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGA TGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCT GCTCGCGGGTGTGAGATGCGCCGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841638	A A	ACCCTGAC others(301): Show ACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATG GAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCA GGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGA CCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATC TCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGA GCAGGTCCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	242	0.0041	308	c.361 others(327): Show c.361-15561_361-15560insGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTC GCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCT GCTCGCGGGTGTGAGATGCGCTGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841663	C C	CGGCGAGC others(301): Show CGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCC GACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCA TCTCACACG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0015g0239 a0001c0001t0015g0240	2	242	0.0083	308	c.361 others(327): Show c.361-15586_361-15585insCGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCC GGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCT CGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGA GATGCTCCGTGGTCAGGGGGGACCTGCTCGCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83950850	T T	TACTGGCA others(301): Show TACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACA TACATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACG TACACACACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATG CACATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	350	0.0029	308	c.-25 others(319): Show c.-2553_-2552insACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACATACATACCGGCACACGTACACACATGCACACATGA ACACATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACGTACACACACGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAGC ACATGTGCACACATGCACATACAC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2389		chr16	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(301): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0013 a0001c0001t0007 a0001c0004t0013	a0001c0001t0007g0330 a0001c0004t0013g0345 a0001c0001t0007g0330 a0001c0004t0013g0345	2	356	0.0056	308	c.92+ others(323): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PCBP3_chr21_45638725_45947450	45909791	C C	CCCCCCCC others(301): Show CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATA CGGACCCGGCCACCCACTGCCCAGATACAGACCCCCTCCACCCACTGCCC AGATACGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	292	0.0034	308	c.471 others(323): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCTCCACCC ACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCCCTC CACCCACTGCCCAGATACGGACCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(301): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	308	c.-26 others(319): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCNX4_chr14_60086923_60153221	60108768	A A	AATATTGA others(301): Show AATATTGATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	308	0.0033	308	c.689 others(323): Show c.689+454_689+455insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCATATTGATTTTTT	PCNX4	ENSG00000126773.13	transcript	ENST00000406854.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCSK5_chr9_75885673_76367975	76337136	G G	GAAGAATA others(301): Show GAAGAATAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG03453.hp1 HG02109.hp1 HG02109.hp2 HG03453.hp1	a0003 a0006 a0015 a0003 a0006 a0015	a0003c0057 a0006c0012 a0015c0023 a0003c0057 a0006c0012 a0015c0023	a0003c0057t0018 a0006c0012t0046 a0015c0023t0018 a0003c0057t0018 a0006c0012t0046 a0015c0023t0018	a0003c0057t0018g0056 a0006c0012t0046g0161 a0015c0023t0018g0111 a0003c0057t0018g0056 a0006c0012t0046g0161 a0015c0023t0018g0111	3	166	0.0181	308	c.474 others(327): Show c.4749-1081_4749-1080insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAGAATAATTCAG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	34/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(301): Show TTCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCCCTCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACT TCCCCTCCCTCCTCCCTTGCCCTCCCCCTCCCCTCCCTCATCCCCTCCCC CCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCACTCCCCCTCCCC CTCCCCCTCCCCACTCCCCCTCCCCCTCCCTGCCCTCCCCCTCCCCCCTC CCCTGCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0001 a0005c0026t0001	a0005c0026t0001g0331 a0005c0026t0001g0331	1	336	0.0030	308	c.-37 others(319): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGGAGGGGGAGGGCAGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGGGGGAGTGGGGGAGGGGAT GGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGAGGG GGAGGGCAAGGGAGGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAG GGGAGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGG GGAGGGGAGGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDCD6_chr5_266646_319974	309607	C C	CCCAGTGA others(301): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGC ACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCC CCGTGCACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG04204.hp2 HG01261.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0207 a0001c0001t0001g0209	2	360	0.0056	308	c.368 others(325): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGC ACACCAGTGATGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE1C_chr7_31746179_32075407	31852977	T T	TTAATTTC others(301): Show TTAATTTCACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp2 HG02723.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0243 a0001c0001t0014g0027 a0001c0001t0001g0243 a0001c0001t0014g0027	2	262	0.0076	308	c.751 others(325): Show c.751-2237_751-2236insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CTGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGTGAAATTA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	7/17			chr7	TogoVar
PDE4DIP_chr1_148839428_149038016	149023587	C C	CATATATG others(301): Show CATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTA TATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCA CATATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATG TGTGCACAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0009 a0001c0005t0016g0009	1	24	0.0417	308	c.628 others(325): Show c.6284-667_6284-666insCACATATATATGTACATGTATATGTGTG CACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTATA TGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTACA TGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATA TGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACA TATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGTG	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXP_chr22_37653723_37671932	37656829	A A	AAATTTTT others(301): Show AAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0146 a0001c0001t0008g0050 a0001c0001t0005g0146 a0001c0001t0008g0050	2	418	0.0048	308	c.-19 others(319): Show c.-1954_-1953insAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCC	PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding		1893		chr22	TogoVar
PERM1_chr1_970198_987093	976815	C C	CCCCGGGA others(301): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCC GGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTC CCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACC GCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAATC CCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACG ACCCCCAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02735.hp2 HG01074.hp1 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0248 a0002c0002t0002g0249	2	408	0.0049	308	c.215 others(325): Show c.2150-192_2150-191insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGCGCGGGGAGCGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCG GGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGT TGGTGGGGGGAGCGGGAGGCGGTTCCCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGLS_chr19_17506649_17526288	17509607	T T	TTTTTTTT others(301): Show TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCGTTGCCCAGGCT GGAGTGCAATGGCGTGATCTCAGCTCACCACAACCTCCACCTCCGGGGTT CAAGCCATTCTCCTGCCTCCGACTCCCGAATAGCTGGGATTACAGGCATG AGCTACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCT ACTTCATTTGAGAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCTGCCT ACCTTGGCCTGCCAAAGTGTTGGGATTACAGGCGTGAAGCACCACGCCTG GCCTATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG02970.hp1 HG01891.hp2 HG02922.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0056 a0001c0003t0002g0030 a0001c0003t0001g0056 a0001c0003t0002g0030	3	442	0.0068	308	c.-20 others(319): Show c.-2066_-2065insTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTG CTCGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACCACAACC TCCACCTCCGGGGTTCAAGCCATTCTCCTGCCTCCGACTCCCGAATAGCT GGGATTACAGGCATGAGCTACTACGCCTGGCTAATTTTTGTATTTTTAGT AGAGATGGGGTTTCTACTTCATTTGAGAGGCTGGTCTCGAACTCCTCACC TCAGGTGATCTGCCTACCTTGGCCTGCCAAAGTGTTGGGATTACAGGCGT GAAGCACCACGCCTGGCCTATTCC	PGLS	ENSG00000130313.7	transcript	ENST00000252603.7	protein_coding		2041		chr19	TogoVar
PIGK_chr1_77083989_77224430	77168629	T T	TAAAATTG others(301): Show TAAAATTGCTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG06807.hp1 others(1): Show HG01891.hp1 HG02818.hp2 HG06807.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0332 a0002c0003t0009g0333 a0002c0003t0009g0334 others(1): Show a0002c0003t0009g0332 a0002c0003t0009g0333 a0002c0003t0009g0334 a0002c0003t0009g0351	4	366	0.0109	308	c.375 others(323): Show c.375+630_375+631insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTGAAGCAATTTT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	4/10			chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(301): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGAGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGAGGGGGAGAGGAGGGAAGGGGGAAGAGGGGATG GGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	308	c.53 others(319): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGAGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGGAGAGGAGGGAAG GGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(301): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGA GGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG GAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGGATG GGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	312	0.0032	308	c.53 others(319): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATA GGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGG GGGAAGAGGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(301): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGA GGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG GAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGGATG GGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0175 a0003c0008t0002g0175	1	218	0.0046	308	c.262 others(323): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCCTCTTCCCCCTTCC CTCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCCTCCCCTCCCTTCCCCT CTTCCCCCTCCCCTCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCCTCCCATCTCCTCCCCTCCCCTC TTCCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKN2_chr1_88679273_88841255	88753699	T T	TACACACT others(301): Show TACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG03471.hp2 HG02055.hp2 HG02258.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0045 a0001c0005t0008g0046 a0001c0005t0008g0048 a0001c0005t0008g0045 a0001c0005t0008g0046 a0001c0005t0008g0048	3	330	0.0091	308	c.350 others(325): Show c.350-6513_350-6512insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGACACACTTTT	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(301): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	216	0.0046	308	c.173 others(325): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCC GCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCXD1_chrX_276381_308356	283654	T T	TCAGGCCC others(301): Show TCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCC GTGTTGCCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGG GCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCCGTGTTGCCAGGCCCGG GTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAG GCACGGGTGGGGGCGGCCGTGTTGCCAGGCCCGGGTGGGGGCGGCCTTGG TGTCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGG CCGTGTTGC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18985.hp1 NA19080.hp1 NA18944.hp1 NA18985.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0046 a0001c0002t0047 a0001c0002t0004 a0001c0002t0046 a0001c0002t0047	a0001c0002t0004g0109 a0001c0002t0046g0145 a0001c0002t0047g0144 a0001c0002t0004g0109 a0001c0002t0046g0145 a0001c0002t0047g0144	3	176	0.0171	308	c.-21 others(323): Show c.-21-467_-21-466insGCCGTGTTGCCAGGCCCGGGTGGGGGCGGC CTTGGTGTCAGGCACGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGG GGCGGCCGTGTTGCCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCG GGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCCGTGTTGCCA GGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCTTG GTGTCAGGCACGGGTGGGGGCGGCCGTGTTGCCAGGCCCGGGTGGGGGCG GCCTTGGTGTCAGGCACGGGTGGGGGCG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	283688	A A	ACGGGTGG others(301): Show ACGGGTGGGGGCGGCCGTGTTGCCAGGCCCGGGTGGGGGCGGCCTTGGTG TCAGGCACGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCC GTGTTGCCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGG GCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCGTGGTGTCAGGCCCGG GTGGGGGCGGCCGTGGTGCCAGGCCCGGGTGGGGGCGGCCGTGTTGCCAG GCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCTTGG TGTCAGGCC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0070 a0001c0001t0028g0070	1	176	0.0057	308	c.-21 others(323): Show c.-21-467_-21-466insGCCGTGTTGCCAGGCCCGGGTGGGGGCGGC CTTGGTGTCAGGCACGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGG GGCGGCCGTGTTGCCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCG GGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCGTGGTGTCA GGCCCGGGTGGGGGCGGCCGTGGTGCCAGGCCCGGGTGGGGGCGGCCGTG TTGCCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCG GCCTTGGTGTCAGGCCCGGGTGGGGGCG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG4B_chr5_87168_194966	164894	A A	ACACTAAT others(301): Show ACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCG GAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGAC GGGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACAGTA ATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGGGCTC ACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAACGCTCTGACGGGGCGGGGCTCAGTAATCCTCTGACGG GGCGGAGCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp2 HG02647.hp1 NA19043.hp2	a0006 a0008 a0006 a0008	a0006c0068 a0008c0025 a0006c0068 a0008c0025	a0006c0068t0058 a0008c0025t0069 a0006c0068t0058 a0008c0025t0069	a0006c0068t0058g0194 a0008c0025t0069g0174 a0006c0068t0058g0194 a0008c0025t0069g0174	2	210	0.0095	308	c.347 others(327): Show c.3476+1349_3476+1350insTAATGCTCTGACGGGGCGGGGCTCAC AGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACAG GGGTCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAAT GCTCTGATGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC ACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGG GCTCAGTAATCCTCTGACGGGGCGGAGCTCAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165073	T T	TGCTGTGA others(301): Show TGCTGTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGG GGCTCACACTAACGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACG GGGCGGGGCTCACACTAATGCTGTGACGGGGCGGGGCTCACACTAACGCT CTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCT CACACTAAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0045 a0008c0025t0045	a0008c0025t0045g0172 a0008c0025t0045g0172	1	210	0.0048	308	c.347 others(327): Show c.3476+1528_3476+1529insGTGACGGGGCGGGGCTCACACTAACG CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGAG CTCACACTAATGCTGTGACGGGGCGGGGCTCACACTAATGCTGTGACGGG GCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACACTAACGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976815	C C	CCCCGGGA others(301): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCC GGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTC CCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACC GCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAATC CCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACG ACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02735.hp1 HG01074.hp2 HG02735.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0025 a0002c0002 a0005c0025	a0002c0002t0002 a0005c0025t0002 a0002c0002t0002 a0005c0025t0002	a0002c0002t0002g0166 a0005c0025t0002g0132 a0002c0002t0002g0166 a0005c0025t0002g0132	2	422	0.0047	308	c.22 others(319): Show c.2240_*2241insCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCT CCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGG AACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGA CCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTC CCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGA GAACCGCCTCCCACGACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		951		chr1	TogoVar
PLPP2_chr19_276043_296403	291588	G G	GCAGCAGG others(301): Show GCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAGGAGG GAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGAGCG GCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGAAG GGGAGGAGGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGCGG GCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGG AGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGG AGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	354	0.0028	308	c.-25 others(317): Show c.-253_-252insTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCT CCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCC CGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCC CCTCCCCTCCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCC CCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCC CCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTC CCCTCCTCCCCCTCCCCTGCTG	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		186		chr19	TogoVar
PPARA_chr22_46145526_46248755	46227138	A A	AATGTGCT others(301): Show AATGTGCTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01433.hp1 HG02258.hp1 others(4): Show HG00639.hp1 HG01433.hp1 HG02258.hp1 HG02630.hp2 HG03239.hp2 HG04184.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0010 a0001c0001t0016 a0001c0001t0058 others(3): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0058 a0001c0001t0065 a0003c0003t0010 a0003c0003t0059	a0001c0001t0010g0182 a0001c0001t0016g0027 a0001c0001t0058g0079 others(4): Show a0001c0001t0010g0182 a0001c0001t0016g0027 a0001c0001t0058g0079 a0001c0001t0065g0047 a0003c0003t0010g0031 a0003c0003t0010g0043 a0003c0003t0059g0045	7	200	0.0350	308	c.712 others(325): Show c.712-4638_712-4637insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGATGTGCTTCATATTTT	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(301): Show AATGTGCTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02615.hp2 others(8): Show HG01243.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0020 a0001c0001t0033 others(1): Show a0001c0001t0006 a0001c0001t0020 a0001c0001t0033 a0001c0006t0032	a0001c0001t0006g0029 a0001c0001t0006g0106 a0001c0001t0006g0134 others(8): Show a0001c0001t0006g0029 a0001c0001t0006g0106 a0001c0001t0006g0134 a0001c0001t0006g0143 a0001c0001t0006g0153 a0001c0001t0006g0177 a0001c0001t0006g0197 a0001c0001t0020g0128 a0001c0001t0020g0178 a0001c0001t0033g0133 a0001c0006t0032g0132	11	200	0.0550	308	c.712 others(325): Show c.712-4638_712-4637insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGATGTGCTTCATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPEF1_chrX_18702645_18832917	18731374	T T	TAAGAACA others(301): Show TAAGAACATTCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	224	0.0045	308	c.174 others(325): Show c.174+1078_174+1079insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAGAACATTCCA	PPEF1	ENSG00000086717.19	transcript	ENST00000470157.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PPP1R12C_chr19_55085918_55122637	55096931	G G	GCCCCTTC others(301): Show GCCCCTTCCCCGCAGTTCACCACCGTCTTCACCCCTTCCCTGCAGTTCAC CACTGTCTTCGCCCCTTCCCCGCGCAGTTCACCACCGTCTTCGCCCCTTC CCCGCGCAGTTCACCACCGTCTTCGCCCCTTCTCCGCGCAGTTCACCACC GTCTTCACCCCTTCCCCGCAGTTCACCACCGTCTTCACCCCTTCCCTGCA GTTCACCACTGTCTTCGCCCCTTCCCCGCGCAGTTCACCACCGTCTTCGC CCCTTCCCCGCAGTTCACCACCGTCTTCACCCCTTCCCCGCAGTTCACCA CCGTCTTCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	390	0.0026	308	c.952 others(323): Show c.952-597_952-596insTGAAGACGGTGGTGAACTGCGGGGAAGGGG TGAAGACGGTGGTGAACTGCGGGGAAGGGGCGAAGACGGTGGTGAACTGC GCGGGGAAGGGGCGAAGACAGTGGTGAACTGCAGGGAAGGGGTGAAGACG GTGGTGAACTGCGGGGAAGGGGTGAAGACGGTGGTGAACTGCGCGGAGAA GGGGCGAAGACGGTGGTGAACTGCGCGGGGAAGGGGCGAAGACGGTGGTG AACTGCGCGGGGAAGGGGCGAAGACAGTGGTGAACTGCAGGGAAGGGGTG AAGACGGTGGTGAACTGCGGGGAAGGGG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R21_chr2_48435766_48520386	48502400	T T	TAAAAAGA others(301): Show TAAAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02723.hp1 others(2): Show HG01243.hp1 HG01884.hp2 HG02723.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0035 a0001c0003t0041 others(1): Show a0001c0003t0028 a0001c0003t0035 a0001c0003t0041 a0001c0003t0044	a0001c0003t0028g0334 a0001c0003t0035g0332 a0001c0003t0035g0333 others(2): Show a0001c0003t0028g0334 a0001c0003t0035g0332 a0001c0003t0035g0333 a0001c0003t0041g0081 a0001c0003t0044g0308	5	372	0.0134	308	c.193 others(327): Show c.1936-3156_1936-3155insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAG	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R3B_chr8_9131255_9155658	9155444	T T	TCCAGAAA others(301): Show TCCAGAAACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG02965.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0121 a0001c0001t0002g0002 a0001c0001t0002g0121	2	444	0.0045	308	c.-49 others(319): Show c.-4900_-4899insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAGTTTCTGG	PPP1R3B	ENSG00000173281.5	transcript	ENST00000310455.4	protein_coding		4787		chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22472245	T T	TAAAAGAC others(301): Show TAAAAGACAAGTACACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	326	0.0031	308	c.50- others(323): Show c.50-2695_50-2694insCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGACAAGTACA	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRKD1_chr14_29571479_29932847	29575102	T T	TTTGTTTA others(301): Show TTTGTTTATTCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0137 a0001c0003t0012g0137	1	156	0.0064	308	c.21 others(319): Show c.2135_*2136insCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAGTGAATAAACAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding		1376		chr14	TogoVar
PTPN3_chr9_109370700_109503307	109499103	C C	CAAAAATT others(301): Show CAAAAATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03704.hp2 NA18979.hp1 others(2): Show HG03098.hp2 HG03704.hp2 NA18979.hp1 NA18987.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004	a0001c0001t0009 a0002c0002t0011 a0002c0002t0019 others(2): Show a0001c0001t0009 a0002c0002t0011 a0002c0002t0019 a0002c0003t0016 a0002c0004t0004	a0001c0001t0009g0101 a0002c0002t0011g0092 a0002c0002t0019g0078 others(2): Show a0001c0001t0009g0101 a0002c0002t0011g0092 a0002c0002t0019g0078 a0002c0003t0016g0105 a0002c0004t0004g0089	5	290	0.0172	308	c.-90 others(317): Show c.-903_-902insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCCAGAATTTTT	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding		797		chr9	TogoVar

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Search Results (Total: 10000 hits)