Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(339): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	384	0.0026	346	c.-6- others(363): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTT TTTTTTTTTTTTTTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(339): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	384	0.0026	346	c.-6- others(363): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NRXN3_chr14_78165373_79873291	78345194	T T	TTCATAGC others(339): Show TTCATAGCCAATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0021 a0001c0004t0006g0021	1	24	0.0417	346	c.757 others(365): Show c.757+47351_757+47352insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGTCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTCATAGCCAATTGTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUFIP1_chr13_44934249_44994471	44954009	T T	TAAAAAGA others(339): Show TAAAAAGAAAGAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	316	0.0032	346	c.102 others(365): Show c.1022-4172_1022-4171insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCTTTCTTTCTTTTT	NUFIP1	ENSG00000083635.8	transcript	ENST00000379161.5	protein_coding	7/9			chr13	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(339): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCC GGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTC CCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCAC GGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA TGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	242	0.0041	346	c.361 others(365): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(339): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCC GGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTC CCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCAC GGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCA TGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	242	0.0041	346	c.361 others(365): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(339): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCC GGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTC CCCCCGACCACGGCGCATCTCACATGGGCGAGCAGGTCCACCCTGACCAC GGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA TGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0099 a0001c0001t0006g0100	2	242	0.0083	346	c.361 others(365): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCATGT GAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841624	G G	GGGCGAGC others(339): Show GGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGT CCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCA CGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCA CACCCACGGGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGA CCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCAT CTCACGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACGCC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	242	0.0041	346	c.361 others(365): Show c.361-15547_361-15546insGGCGTGAGATGCGCTGTGGTCAGGGT GGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGAT GCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCA GGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC CCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGA GATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATG GTCGGGAGGACCTGCTCGCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(339): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCCC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0080 a0002c0002t0003g0080	1	438	0.0023	346	c.-29 others(361): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAATAATAATAATAATAATAATAAT AATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(339): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCCC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20129.hp1 HG02145.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	2	438	0.0046	346	c.-29 others(361): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATAATAAT AATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(339): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCCC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	438	0.0023	346	c.-29 others(361): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATAAT AATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(339): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCCC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0131 a0004c0005t0001g0131	1	438	0.0023	346	c.-29 others(361): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT AATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(339): Show ACTGAATGTACATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCCC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0247 a0004c0005t0002g0247	1	438	0.0023	346	c.-29 others(361): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAAT AATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
PAF1_chr19_39380629_39396106	39393004	C C	CCTCCCAA others(339): Show CCTCCCAAAGTGCTGGGATGACAGGCATGAACCATCATGCCCAGCCTTTT CCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGT GGTGTAGTCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTC TCCTGCCTCGGCCTCCCAAGTAGCTGGGACTACAGGCGCGTGCCAGCACA TCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTC CAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCTCGCCTCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	346	c.-24 others(357): Show c.-2486_-2141dupTCCGAGGCGAGCAGATCACCTGAGGTCAGGAGTT CAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACA AAAATTAGCCAGATGTGCTGGCACGCGCCTGTAGTCCCAGCTACTTGGGA GGCCGAGGCAGGAGAATCATTTGAACCCGGGAGGCAGAGGTTGCAGTGAG CTGAGACTACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGA AAGAAAGAAAAGGAAAAGGCTGGGCATGATGGTTCATGCCTGTCATCCCA GCACTTTGGGAG	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		1899		chr19	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(339): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGG GGGGAGGGGAGGGGGAGGGAGGGGGGGAGGGGGAGGGGGGAGGGGAGGGG GAGGGGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	302	0.0033	346	c.155 others(363): Show c.1551+378_1551+379insCTTCCCTCCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCT CCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCTTCCCTTTCC CCCCCCTCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(339): Show GTGTGTGCATATATATACATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0010 a0001c0002t0007g0010	1	156	0.0064	346	c.196 others(367): Show c.1964+81223_1964+81224insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(339): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	366	0.0027	346	c.494 others(363): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATTTTA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(339): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	400	0.0025	346	c.70 others(357): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(339): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	400	0.0025	346	c.70 others(357): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCDHGA1_chr5_141325514_141517975	141333382	T T	TAGAAACG others(339): Show TAGAAACGGCGATCTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02040.hp1 NA18940.hp1 others(2): Show HG00099.hp1 HG02040.hp1 NA18940.hp1 NA18966.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009	a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0005g0224 others(2): Show a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0005g0224 a0001c0002t0005g0228 a0001c0002t0009g0227	5	268	0.0187	346	c.242 others(363): Show c.2421+293_2421+294insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAAACGGCGATCTAG	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD10_chr3_167678298_167739892	167684952	A A	AAAAATAT others(339): Show AAAAATATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19075.hp2 HG02083.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0094 a0001c0001t0004g0090 a0001c0001t0004g0094	2	284	0.0070	346	c.558 others(361): Show c.558-564_558-563insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAATATATTTT	PDCD10	ENSG00000114209.15	transcript	ENST00000392750.7	protein_coding	8/8			chr3	TogoVar
PDE8B_chr5_77205680_77433256	77420370	T T	TAAAACCT others(339): Show TAAAACCTACTCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	314	0.0032	346	c.225 others(363): Show c.2250+497_2250+498insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACCTACTCATG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDXK_chr21_43714129_43767299	43741324	C C	CGCGGGGG others(339): Show CGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGG GGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGC TCGCGGGGGGCTCGCGGGGCGCTCGCGGGGGGGCTCGCGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0324 a0003c0006t0006g0324	1	358	0.0028	346	c.143 others(361): Show c.143-324_143-323insCTGGCGGGGGGCTCGCCGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGG GGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGC TCGCGGGGGGCTCGCGGGGCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZRN3_chr3_73377431_73629941	73472034	G G	GCTGATTT others(339): Show GCTGATTTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	216	0.0046	346	c.919 others(365): Show c.919-67640_919-67639insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATAGTAAATCAG	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PHF2_chr9_93571584_93684587	93609090	T T	TTTAGTGG others(339): Show TTTAGTGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCA CGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	350	0.0029	346	c.99- others(363): Show c.99-20866_99-20865insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCTACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCTTAGTGGTTGTTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIEZO1_chr16_88710338_88790220	88729787	G G	GAACCCAC others(339): Show GAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCCCAAAAAC AAAGTGACCCCTCGATGCTGGGGAACCCAGGACATGCTGAACCCACAGCC CCATCTGCCACAGAGGGAACCTCGTGACCCAAAAACAAAGTGACCCTCGA TGCTGGGGGAACCAGGACATTCTGAACCCACAGCCCCCATCTGCCACAGA GGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCA GGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACA CAAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0231 a0013c0012t0001g0231	1	282	0.0036	346	c.319 others(365): Show c.3196+1918_3196+1919insTCAGCATGTCCTGGGTTCCCCAGCAT CGAGGGTCACTTTGTTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGG GGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTG TTTTTGGGTCGCGAGGTTCCCTCTGTGGCAGATGGGGGCTGTGGGTTCAG AATGTCCTGGTTCCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCACGA GGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCC CCAGCATCGAGGGGTCACTTTGTTTTTGGGGGTCGCGAGGTTCCCTCTGT GGCAGATGGGGCTGTGGGTT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIGZ_chr3_196941356_196973833	196948888	C C	CCCTTCCT others(339): Show CCCTTCCTTCCCTTCCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCCTCCC CTCCCTTCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTT CCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTC CTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTT CCTTCCCTTCCTTCCCTTCCTTCCCTTTACTTCTCTTCCCCTCCCCTCCC TTCCCTTCCTTTCCTTTACTTCCCTTCCTTCCCCTCCCCTCCCTTCCTTC CCTTCCTTCCCTTCCCCTCCCCTCCCTTCCTTCCCTTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG02280.hp1 HG03453.hp1	a0008 a0008	a0008c0034 a0008c0034	a0008c0034t0001 a0008c0034t0001	a0008c0034t0001g0013 a0008c0034t0001g0013	2	424	0.0047	346	c.212 others(361): Show c.212-204_212-203insAGGGGAGGGGAAGGGAAGGAAGGGAGGGGA GGGGAAGGGAAGGAAGGGAAGGAAGGGAGGGGAGGGGAAGGAAGGGAAGT AAAGGAAAGGAAGGGAAGGGAGGGGAGGGGAAGAGAAGTAAAGGGAAGGA AGGGAAGGAAGGGAAGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGA GGGGAGGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGG AAGGAAGGGAAGGAAGGAAGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGG GAAGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGGAGGGAGGGGAG GGGAAGGGAAGGAAGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PLEKHA6_chr1_204213853_204364929	204269327	C C	CAGAAACC others(339): Show CAGAAACCTCATCTATTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0055 a0006c0025t0055	a0006c0025t0055g0014 a0006c0025t0055g0014	1	270	0.0037	346	c.103 others(363): Show c.103-1016_103-1015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTG GAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGC GCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCG ACAATAGATGAGGTTTCT	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	3/22			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCTGCA others(339): Show CCCCTGCACACCCCCACCCCCTCCCCGCACACCCCACAACCTCCCCCTGC ACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCATACCCCACAACCT CCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCCCCTCTCCCCTGC ACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC CACCCCCTCCCCACACACGCACACCCCACCCCCTCCCCGCACACCCCCAC CCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACCCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0008 a0008	a0008c0079 a0008c0079	a0008c0079t0068 a0008c0079t0068	a0008c0079t0068g0173 a0008c0079t0068g0173	1	210	0.0048	346	c.147 others(363): Show c.1477+391_1477+392insTGCACACCCCCACCCCCTCCCCGCACAC CCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAA CCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCC CTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACA CCCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACC CCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCACCCC CTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTG CACACCCCACCCCCTCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHM3_chr2_207816288_208030527	208023306	C C	CCCCATCT others(339): Show CCCCATCTTAACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	200	0.0050	346	c.-31 others(365): Show c.-319+2082_-319+2083insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATAGTTAAGATGGG	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	1/7			chr2	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(339): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTGTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGAGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	294	0.0034	346	c.550 others(363): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACAAAAAAAACAAAAAAA AACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLXDC2_chr10_19811432_20294856	19843073	T T	TAAAATTT others(339): Show TAAAATTTACCGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0158 a0001c0001t0027g0158	1	180	0.0056	346	c.112 others(365): Show c.112+25895_112+25896insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATTTACCGGA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA8C_chr19_46419697_46433936	46433052	T T	TTGAAATG others(339): Show TTGAAATGTACTATTATTATTATTATTATTATTATTATTATTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCT ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0000 a0001c0001t0021g0000	3	442	0.0068	346	c.-46 others(357): Show c.-4694_-4693insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATAATAATAATAATAA TAGTACATTTCA	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding		4117		chr19	TogoVar
POLN_chr4_2066918_2247121	2217617	G G	GACAGTTT others(339): Show GACAGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGACTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	1	194	0.0052	346	c.134 others(363): Show c.134-4492_134-4491insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAACAAAACTGT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	3/25			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(339): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	270	0.0037	346	c.200 others(363): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PRKCE_chr2_45646675_46192990	45969045	T T	TAAAATAT others(339): Show TAAAATATTCATTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0114 a0001c0001t0004g0115 a0001c0001t0002g0114 a0001c0001t0004g0115	2	168	0.0119	346	c.413 others(363): Show c.413-7369_413-7368insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATATTCATTGAT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTER_chr10_16432010_16518745	16506037	T T	TGAGAGAT others(339): Show TGAGAGATATATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19076.hp1 HG03927.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0360 a0001c0001t0032g0363 a0001c0001t0003g0360 a0001c0001t0032g0363	2	378	0.0053	346	c.839 others(361): Show c.839+894_839+895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCG AGAGATATATATTCTT	PTER	ENSG00000165983.15	transcript	ENST00000535784.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRD_chr9_8309246_10618002	8948439	A A	ATATATAT others(339): Show ATATATATATTTATATATATATATTTATATATATATTTATATATATATAT TTATATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATATTTATATATATTTATATATATATTTATATATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATATTTATATATATATTTATATATATTTATATATATATATTTAT ATATATATTTATATATATATTTATATATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0027 a0001c0003t0004g0027	1	34	0.0294	346	c.-10 others(367): Show c.-104+70257_-104+70258insAATATATATATAAATATATATATA TAAATATATATATAAATATATATATAAATATATATATATAAATATATATA AATATATATATAAATATATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATATATAAATATATATATAAA TATATATAAATATATATATATAAATATATATATAAATATATATATATAAA TATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATATAAATATATATATATAAATATATATATATAAATATATATATAAA TATATATATATAAATATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9868736	A A	AGAAAAAT others(339): Show AGAAAAATGAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0021 a0001c0007t0021	a0001c0007t0021g0002 a0001c0007t0021g0002	1	34	0.0294	346	c.-36 others(367): Show c.-368+69770_-368+69771insGGCCGGGCGTGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGATTTCATTTTTC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45			chr9	TogoVar
PTPRT_chr20_42067756_43194906	42883696	T T	TCCCATAC others(339): Show TCCCATACACCCCCCCACACACACATACACCTCCATACAGACAGACCCCC TACACATGCATACACACACACACTCATATGCTCCCATACACATGCATACA CACCCTCCATACACACATACACCCCCATACACACACCCCTATACACTCCC ATACACACACACCCATACACATGCACACCCACACCCCCATACACATGCAC ACACACCCATACACACACCCCTTACACCCCCATATGCACACACACCCCAC ATACACACCCATAGGCATGCATACACACATATACCCATACACCCCCATAC ACACACACATACACACCCCCAATACACAGGCATGCACACACAATGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00738.hp1 others(28): Show HG00140.hp1 HG00438.hp2 HG00738.hp1 HG00741.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01496.hp1 HG02109.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0002 a0001c0003 a0001c0007 others(17): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0021 a0001c0023 a0001c0029 a0001c0030 a0001c0031 a0002c0001 a0002c0004 a0002c0005 a0002c0014 a0002c0015 a0003c0006 a0004c0020 a0004c0024 a0006c0019 a0007c0010 a0008c0012	a0001c0002t0006 a0001c0002t0014 a0001c0002t0022 others(25): Show a0001c0002t0006 a0001c0002t0014 a0001c0002t0022 a0001c0002t0023 a0001c0003t0002 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0001c0021t0001 a0001c0023t0007 a0001c0029t0013 a0001c0030t0001 a0001c0031t0001 a0002c0001t0003 a0002c0001t0010 a0002c0001t0011 a0002c0001t0025 a0002c0004t0002 a0002c0004t0010 a0002c0005t0012 a0002c0014t0007 a0002c0015t0001 a0003c0006t0009 a0004c0020t0016 a0004c0024t0005 a0006c0019t0008 a0007c0010t0009 a0008c0012t0005	a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0002t0014g0052 others(28): Show a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0002t0014g0052 a0001c0002t0022g0055 a0001c0002t0023g0044 a0001c0003t0002g0043 a0001c0007t0001g0061 a0001c0007t0004g0062 a0001c0008t0001g0060 a0001c0021t0001g0053 a0001c0023t0007g0034 a0001c0029t0013g0057 a0001c0030t0001g0035 a0001c0031t0001g0056 a0002c0001t0003g0008 a0002c0001t0010g0024 a0002c0001t0011g0019 a0002c0001t0011g0020 a0002c0001t0025g0002 a0002c0004t0002g0007 a0002c0004t0010g0027 a0002c0005t0012g0009 a0002c0005t0012g0010 a0002c0014t0007g0004 a0002c0015t0001g0013 a0003c0006t0009g0051 a0004c0020t0016g0029 a0004c0024t0005g0032 a0006c0019t0008g0050 a0007c0010t0009g0021 a0008c0012t0005g0017	31	62	0.5000	346	c.214 others(363): Show c.214+2110_214+2111insTGCATTGTGTGTGCATGCCTGTGTATTG GGGGTGTGTATGTGTGTGTGTATGGGGGTGTATGGGTATATGTGTGTATG CATGCCTATGGGTGTGTATGTGGGGTGTGTGTGCATATGGGGGTGTAAGG GGTGTGTGTATGGGTGTGTGTGCATGTGTATGGGGGTGTGGGTGTGCATG TGTATGGGTGTGTGTGTATGGGAGTGTATAGGGGTGTGTGTATGGGGGTG TATGTGTGTATGGAGGGTGTGTATGCATGTGTATGGGAGCATATGAGTGT GTGTGTGTATGCATGTGTAGGGGGTCTGTCTGTATGGAGGTGTATGTGTG TGTGGGGGGGTGTATGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	2/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42883696	T T	TCCCATAC others(339): Show TCCCATACACCCCCCCACACACACATACACCTCCATACAGACAGACCCCC TACACATGCATACACACACACACTCATATGCTCCCATACACATGCATACA CACCCTCCATACACACATACACCCCCATACACACACCCCTATACACTCCC ATACACACACACCCATACACATGCACACCCACACCCCCATACACATGCAC ACACACCCATACACATACCCCTTACACCCCCATATGCACACACACCCCAC ATACACACCCATAGGCATGCATACACACATATACCCATACACCCCCATAC ACACACACATACACACCCCCAATACACAGGCATGCACACACAATGCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0030 a0002c0016t0030	a0002c0016t0030g0014 a0002c0016t0030g0014	1	62	0.0161	346	c.214 others(363): Show c.214+2110_214+2111insTGCATTGTGTGTGCATGCCTGTGTATTG GGGGTGTGTATGTGTGTGTGTATGGGGGTGTATGGGTATATGTGTGTATG CATGCCTATGGGTGTGTATGTGGGGTGTGTGTGCATATGGGGGTGTAAGG GGTATGTGTATGGGTGTGTGTGCATGTGTATGGGGGTGTGGGTGTGCATG TGTATGGGTGTGTGTGTATGGGAGTGTATAGGGGTGTGTGTATGGGGGTG TATGTGTGTATGGAGGGTGTGTATGCATGTGTATGGGAGCATATGAGTGT GTGTGTGTATGCATGTGTAGGGGGTCTGTCTGTATGGAGGTGTATGTGTG TGTGGGGGGGTGTATGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	2/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42883696	T T	TCCCATAC others(339): Show TCCCATACACCCCCCCACACACACATACACCTCCATACAGACAGATCCCC TACACATGCATACACACACACACTCATATGCTCCCATACACATGCATACA CACCCTCCATACACACATACACCCCCATACACACACCCCTATACACTCCC ATACACACACACCCATACACATGCACACCCACACCCCCATACACATGCAC ACACACCCATACACACACCCCTTACACCCCCATATGCACACACACCCCAC ATACACACCCATAGGCATGCATACACACATATACCCATACACCCCCATAC ACACACACATACACACCCCCAATACACAGGCATGCACACACAATGCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00738.hp2 others(23): Show HG00140.hp2 HG00438.hp1 HG00738.hp2 HG00741.hp1 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01496.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02647.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0002 a0001c0003 a0001c0008 others(11): Show a0001c0002 a0001c0003 a0001c0008 a0001c0018 a0001c0022 a0001c0025 a0001c0026 a0001c0027 a0002c0001 a0002c0004 a0002c0011 a0002c0013 a0003c0006 a0009c0017	a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 others(20): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0018 a0001c0003t0020 a0001c0003t0029 a0001c0008t0005 a0001c0018t0003 a0001c0022t0021 a0001c0025t0015 a0001c0026t0007 a0001c0027t0028 a0002c0001t0002 a0002c0001t0019 a0002c0001t0026 a0002c0004t0002 a0002c0004t0004 a0002c0004t0024 a0002c0011t0006 a0002c0013t0001 a0003c0006t0008 a0009c0017t0017	a0001c0002t0002g0031 a0001c0002t0002g0058 a0001c0003t0001g0038 others(23): Show a0001c0002t0002g0031 a0001c0002t0002g0058 a0001c0003t0001g0038 a0001c0003t0003g0033 a0001c0003t0004g0041 a0001c0003t0018g0046 a0001c0003t0020g0047 a0001c0003t0029g0048 a0001c0008t0005g0037 a0001c0018t0003g0030 a0001c0022t0021g0045 a0001c0025t0015g0028 a0001c0026t0007g0059 a0001c0027t0028g0049 a0002c0001t0002g0011 a0002c0001t0002g0015 a0002c0001t0002g0025 a0002c0001t0019g0023 a0002c0001t0026g0012 a0002c0004t0002g0001 a0002c0004t0004g0026 a0002c0004t0024g0006 a0002c0011t0006g0003 a0002c0013t0001g0016 a0003c0006t0008g0054 a0009c0017t0017g0022	26	62	0.4194	346	c.214 others(363): Show c.214+2110_214+2111insTGCATTGTGTGTGCATGCCTGTGTATTG GGGGTGTGTATGTGTGTGTGTATGGGGGTGTATGGGTATATGTGTGTATG CATGCCTATGGGTGTGTATGTGGGGTGTGTGTGCATATGGGGGTGTAAGG GGTGTGTGTATGGGTGTGTGTGCATGTGTATGGGGGTGTGGGTGTGCATG TGTATGGGTGTGTGTGTATGGGAGTGTATAGGGGTGTGTGTATGGGGGTG TATGTGTGTATGGAGGGTGTGTATGCATGTGTATGGGAGCATATGAGTGT GTGTGTGTATGCATGTGTAGGGGATCTGTCTGTATGGAGGTGTATGTGTG TGTGGGGGGGTGTATGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	2/30			chr20	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(339): Show ATATATATCTATTAGATATATATATTATTATATATATCTATTAGATATAT ATATTATTATATATATCTATTAGATATATATATTATTATATATATCTATT AGATATATATATTATTATATATATCTAATAGATATATATATTATTATATA TATCTAATAGATATATATATTATTATATATATCTAATAGATATATATATT ATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGATA TATATATTATTATATATATCTAATAGATATATATATTATTATATATATCT AATAGATATATATATTATTATATATATCTAATAGATATATATATTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01975.hp1 HG00735.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0275 a0001c0001t0002g0236 a0001c0001t0002g0275	2	344	0.0058	346	c.38- others(361): Show c.38-2384_38-2383insATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATATATAATAATATATATATC TATTAGATATATATAATAATATATATATCTATTAGATATATATAATAATA TATATATCTATTAGATATATATAATAATATATATATCTATTAGATATATA TAATAATATATATATCTAATAGATATATATAATAATATATATATCTAATA GATATATATAATAATATATATATCTAATAGATATATATAATAATATATAT ATCTAATAGATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RAI14_chr5_34651328_34837612	34717925	T T	TCCAACCC others(339): Show TCCAACCCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACCGGCGCCCGCCACTAC GCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp1 HG03669.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0004 a0001c0001t0001 a0002c0008t0004	a0001c0001t0001g0184 a0002c0008t0004g0011 a0001c0001t0001g0184 a0002c0008t0004g0011	2	254	0.0079	346	c.36+ others(363): Show c.36+30984_36+30985insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACCGGCGCCCG CCACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCCCCAACCCTGCTCTT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALGPS2_chr1_178720244_178926840	178723646	T T	TCAGTTTT others(339): Show TCAGTTTTCATATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0039 a0001c0001t0012g0039	1	306	0.0033	346	c.-18 others(357): Show c.-1857_-1856insCAGTTTTCATATTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	RALGPS2	ENSG00000116191.19	transcript	ENST00000367635.8	protein_coding		1597		chr1	TogoVar
RARS1_chr5_168481471_168524301	168513669	A A	AAGAGTCT others(339): Show AAGAGTCTGTTAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TTCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	394	0.0025	346	c.145 others(365): Show c.1452+3002_1452+3003insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTTCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CAGAGTCTGTTAACTCTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBL1_chr20_36991349_37100997	37093331	T T	TACATTTG others(339): Show TACATTTGTGCTTTCTTTTTTTTTTTTTTTTTTTTTTATTTATTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0245 a0001c0001t0005g0245	1	354	0.0028	346	c.156 others(363): Show c.156+2441_156+2442insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAATAAATAAAAAAAAAAAAAAAAAA AAAAGAAAGCACAAATGT	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	1/21			chr20	TogoVar
RBL1_chr20_36991349_37100997	37093331	T T	TACATTTG others(339): Show TACATTTGTGCTTTCTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp2 HG01928.hp1 others(9): Show HG00544.hp1 HG01175.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02293.hp1 NA18956.hp1 NA18989.hp2 NA19000.hp2 NA19004.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(9): Show a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243	12	354	0.0339	346	c.156 others(363): Show c.156+2441_156+2442insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAA AAAAGAAAGCACAAATGT	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	1/21			chr20	TogoVar
RBM17_chr10_6084034_6122447	6090877	T T	TAGAAAGT others(339): Show TAGAAAGTCATGGTAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCAGGAAGTGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0032 a0001c0001t0016g0032	2	434	0.0046	346	c.-19 others(363): Show c.-19+1700_-19+1701insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGTGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAAGAAAGTCATGGTAGA	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
RCHY1_chr4_75474033_75519403	75491292	T T	TATTTTTC others(339): Show TATTTTTCAGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCCCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGTGC CACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	406	0.0025	346	c.536 others(361): Show c.536+318_536+319insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA ATTAGCCGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTACACGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGGGCGAAACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATGCTGAAAAAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	7/8			chr4	TogoVar

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