Joint Open Genome and Omics Platform (JoGo)

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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
OTOF_chr2_26452203_26483124	26476489	C C	CCCTTCCC others(246): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTCCCT CCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCC ACGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	330	0.0030	253	c.436 others(268): Show c.436-173_436-172insACGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGGAGGGAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGGAA GGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGA GGTGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476489	C C	CCCTTCCC others(246): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTCCCT CCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCC ACGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	284	0.0035	253	c.267 others(270): Show c.2677-173_2677-172insACGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAGGGAGGAGGTGGGGGAAGGGGTG GGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGG AAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45909762	A A	ACCCGGCC others(246): Show ACCCGGCCACCCACTGCCCAGATACAGACCTGGCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACT GCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCAC CCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATACGGACCCC CCCAACCCACTTCCCAGGTACGGACCCCCCCACACACACTTCCCAGATAC GGAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0224 a0001c0001t0019g0224	1	292	0.0034	253	c.471 others(268): Show c.471+279_471+280insGGCCACCCACTGCCCAGATACAGACCTGGC CCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGA CCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAG ATACGGACCCCCCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTG CCCAGATACGGACCCCCCCAACCCACTTCCCAGGTACGGACCCCCCCACA CACACTTCCCAGATACGGACCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(246): Show TCCCTCACAGCCCACCGCATCATCACACCCTCACAGCTCACCCCATCATC ACACCCTCACAGCCCACCCCATCATCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCAT CACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCATCACACCCTCACAGCCCACCCCATCG TCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0282 a0001c0009t0001g0282	1	336	0.0030	253	c.269 others(272): Show c.2699+1739_2699+1740insGTGACGATGGGGTGGGCTGTGAGGGT GTGATGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGAGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGATGATGGGGTGGGCTGTGAGGGTGTGATGATGGGGTGAGCTGTGAGG GTGTGATGATGCGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(246): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCCCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCAC CCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	360	0.0056	253	c.36 others(264): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(246): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	342	0.0029	253	c.20- others(268): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCT others(246): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGC TCGC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	358	0.0028	253	c.143 others(268): Show c.143-324_143-323insCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGCT others(246): Show GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGG GGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTG GCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCAGGGGGGCTCGCAGGGG GGCTCGCGGGGGGCTCGCAGGGGGGCTCGCAGGGGGGCTCGCAGGGGGGC TCGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0316 a0001c0001t0029g0316	1	358	0.0028	253	c.143 others(268): Show c.143-255_143-254insCTCGCAGGGGGGCTCGCGGGGGGCTCGCAG GGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGG CAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCAGG GGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCAGGGGG GCTCGCAGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977699	G G	GCCACCCC others(246): Show GCCACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCC TCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAA CCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCC GCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCC GGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCAC CGAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0233 a0002c0005t0005g0233	1	408	0.0025	253	c.215 others(272): Show c.2150-1076_2150-1075insGTCGGTGGGGGCAGGCGGTTCCCGGG GTTGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGCGGGA GGCGGTTCCCGGGGTTGGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGG CGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGCGGGAGGCG GTTCCCGGGGTTGGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGCGGG GGGAGCGGGAGGCGGTTCCCGGGGTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(246): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCT CCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTC CTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG00673.hp2 others(54): Show HG00544.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp2 HG01106.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02083.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG04115.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp2 NA18969.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0005 a0005c0013	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0002t0002 a0001c0004t0002 a0001c0006t0002 a0002c0005t0002 a0005c0013t0007	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 others(16): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0007g0016 a0001c0001t0007g0108 a0001c0001t0013g0032 a0001c0002t0002g0119 a0001c0004t0002g0012 a0001c0006t0002g0034 a0001c0006t0002g0065 a0002c0005t0002g0033 a0005c0013t0007g0078	57	358	0.1592	253	c.44 others(264): Show c.4424_*4425insGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGA GGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGG GAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAG AAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGA GGGAGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGA GGAGGGAGGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(246): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCT CCTCTCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCT CCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTC CTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	358	0.0028	253	c.44 others(264): Show c.4424_*4425insGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGA GGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGG GAGGAGGGGGAGGAGAGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAG AAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGA GGGAGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGA GGAGGGAGGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PIEZO1_chr16_88710338_88790220	88713081	G G	GCCCCTGA others(246): Show GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCCCTCATGCCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTTCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0075 a0075	a0075c0119 a0075c0119	a0075c0119t0001 a0075c0119t0001	a0075c0119t0001g0141 a0075c0119t0001g0141	1	282	0.0036	253	c.25 others(264): Show c.2523_*2524insTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCT CTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGAAAGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAG GGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGGGGGGGTCAGGGCCCGGG GAAGGGGGGCTCTCAGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2256		chr16	TogoVar
PIWIL1_chr12_130332887_130377637	130338250	T T	TTGCGGGG others(246): Show TTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTG GCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTC CCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGC GGGGGATGCAGGAGCCAGATGCGGGTGGCGAGGTCCCAGGTGCGGGAGAT GCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGC CGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	425	0.0024	253	c.-13 others(268): Show c.-13+111_-13+112insTCGAGGTCCCAGGTGCGGGGGATGCAGGAG CCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGC GGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGA GGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGGTGGCGAGGTCCCA GGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGG AGATGCAGGAGCCGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338441	C C	CGGGAGAT others(246): Show CGGGAGATGCAGGAGCCGGGTGCGGGGGGCGAGGTCCCAGGTGCGGGAGA TGCAGAAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAG CCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGC GGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGA GGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAG GTGT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0325 a0001c0002t0044g0325	1	425	0.0024	253	c.-13 others(268): Show c.-13+322_-13+323insGCGAGGTCCCAGGTGCGGGAGATGCAGAAG CCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGC GGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGA GGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAG GTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGA GATGCAGGAGCCGGGTGCGGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(246): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19088.hp2 NA19070.hp1 NA19088.hp2	a0007 a0018 a0007 a0018	a0007c0008 a0018c0025 a0007c0008 a0018c0025	a0007c0008t0001 a0018c0025t0001 a0007c0008t0001 a0018c0025t0001	a0007c0008t0001g0058 a0018c0025t0001g0135 a0007c0008t0001g0058 a0018c0025t0001g0135	2	306	0.0065	253	c.349 others(272): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100315123	A A	AGGGAGAG others(246): Show AGGGAGAGGGAAGGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGA AGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGA AGGGAAGAGGAAGGGAAGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	306	0.0033	253	c.349 others(272): Show c.349+14087_349+14088insCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTCCCTTCCCTTCCTCTTCCCTTCCTTCCCTTCCTTCCCTTCCC TTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTT CCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCTTCCTTCCCTTCCCTTCCC TTCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCTTCCTTCCCTTCCCTCTCCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(246): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0052 a0003c0013t0001g0052	1	134	0.0075	253	c.575 others(274): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG CTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401951	C C	CCGCTCAC others(246): Show CCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACC CCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGG ACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACC CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	216	0.0046	253	c.173 others(272): Show c.1738-1126_1738-1125insGCTCACCCCGGGCCCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401951	C C	CCGCTCAC others(246): Show CCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACC CCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGG ACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACC CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03017.hp2 HG02735.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0112 a0001c0003t0001g0166 a0001c0002t0001g0112 a0001c0003t0001g0166	2	216	0.0093	253	c.173 others(272): Show c.1738-1126_1738-1125insGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCL1_chr2_197799593_198154863	197922651	C C	CACCTCCC others(246): Show CACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA GCTGGCCGGGCAGGGGGCTGACCCCCCCACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCAGGG GGCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 HG03579.hp2 others(1): Show HG02886.hp1 HG03139.hp1 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0020 a0001c0001t0047 a0001c0006t0051 a0001c0001t0020 a0001c0001t0047 a0001c0006t0051	a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0047g0055 others(1): Show a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0047g0055 a0001c0006t0051g0054	4	204	0.0196	253	c.240 others(274): Show c.240+117312_240+117313insACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCAGGGGGCTGACCCC CCCACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCAGCTGGCCGGGCAGGGGGCT	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5			chr2	TogoVar
PLEKHG4B_chr5_87168_194966	164627	A A	AGCGGAGC others(246): Show AGCGGAGCTCACACTAATGCTCTGACGGGCGGAGCTCACACTAATGCTCT GACAGGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATACTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGAGCTCACACTAATACTCTGACGGGGC GGAGCTCACACTAATACTCTGACGGGGCGGGGCTCACAGTAATCCTCTGA CGGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0029 a0029	a0029c0033 a0029c0033	a0029c0033t0042 a0029c0033t0042	a0029c0033t0042g0163 a0029c0033t0042g0163	1	210	0.0048	253	c.347 others(272): Show c.3476+1123_3476+1124insGCTCTGACAGGGGGCGGAGCTCACAC TAATGCTCTGACGGGGCGGAGCTCACACTAATACTCTGACGGGGCGGGGC TCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGG CGGAGCTCACACTAATACTCTGACGGGGCGGAGCTCACACTAATACTCTG ACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAAT GCTCTGACGGGCGGAGCTCACACTAAT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(246): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATAATATATATTATATATAAAAATATAT TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATTATATATAATATATATAATATATTATATT ATATATAATATATATAATATATTATATTATATATAATATATTATATATAT TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 NA21309.hp2 HG00280.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0002g0048 a0001c0007t0001g0032 a0001c0001t0002g0048 a0001c0007t0001g0032	2	286	0.0070	253	c.-50 others(264): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATTATATATATTATATATAATATAATATATTATATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAAATATATTTTTATATATAATATATATTATAT TATATATAATATATATTATATTATATATAATATATTTTTATATAAATATA TATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(246): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATAATATATATTATATATAAAAATATAT TTATATATATTATATTATATATAATATATTATATATATTATATTATATAT AATATATTATATATATTATATTATATATAATATATTATATATATTATATT ATATATAATATATATAATATATTATATTATATATAATATATTATATATAT TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	286	0.0070	253	c.-50 others(264): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATTATATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAAATATATTTTTATATATAATATATATTATAT TATATATAATATATATTATATTATATATAATATATTTTTATATAAATATA TATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPFIA2_chr12_81252975_81764350	81417590	T T	TAGAAATA others(246): Show TAGAAATAACAAAAGCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	168	0.0060	253	c.646 others(272): Show c.646-11688_646-11687insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGCTTTTGTTATTTCT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PROZ_chr13_113153648_113177386	113162201	G G	GTCCCCGT others(246): Show GTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACGTTCCCCCCATCCTCCTCCTGCT CAGC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	378	0.0027	253	c.260 others(268): Show c.260-749_260-748insGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCC CACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTTCCCCCCATCC TCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
RAB11FIP3_chr16_420649_528011	504412	G G	GTACCCTT others(246): Show GTACCCTTCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTT GCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCC CCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCC TCCTGTACCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCTCACCTCCTCC TGTA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0284 a0001c0002t0009g0284	1	295	0.0034	253	c.139 others(272): Show c.1396-1112_1396-1111insTACCCTTCACCTCCTCCTGTACCCCC TCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCA CCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCTCACCTCCTTGTGCAC CCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCCCTCACCTCCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RER1_chr1_2386841_2410436	2401339	C C	CTCCCTCC others(246): Show CTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTC CTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCC CTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCC TCCT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	354	0.0028	253	c.365 others(268): Show c.365+405_365+406insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCC TCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCT CCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTC CTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC CTCCTCCTTCCTCCCTCCTCCTT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(246): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCT CCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCT CCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTC CTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00673.hp2 others(55): Show HG00544.hp1 HG00639.hp2 HG00673.hp2 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp2 NA18969.hp1 NA18969.hp2 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0018 a0001c0001t0002 a0001c0001t0008 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0020 others(24): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0176 a0001c0001t0002g0215 a0001c0001t0008g0001 a0001c0001t0008g0065 a0001c0001t0008g0228 a0001c0001t0018g0007	58	354	0.1638	253	c.365 others(268): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCT TCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCT CCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTC CTCCCTCCTCCTTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(246): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCT CCTCTCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCT CCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTC CTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0178 a0001c0001t0008g0178	1	354	0.0028	253	c.365 others(268): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCT TCTTCCTCCTCCTCTCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCT CCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTC CTCCCTCCTCCTTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCTCCCTC others(246): Show TCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTC CTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTC CTCCCTCCTTCCTCCCTCCTCCTCCCCTCCCTCCTCCCTTCTCCCTCCTC CTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	354	0.0028	253	c.365 others(268): Show c.365+415_365+416insCCCTCCCTCCTCCCTCCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCTCCTCCCTCCTCCTTCTTCCTCCCTCCTCCTCCCTT CTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTC CTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCCTCCCTCCTCCCTT CTCCCTCCTCCTTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIOK2_chr5_97155867_97188247	97180016	A A	AAAATATA others(246): Show AAAATATATATATATAATATATATATATAAAATATATATATATAATATAT ATATATAAAATATATATATATAATATATATATATAAAATATATATATAAA ATATATATATAATATATATATATAAAATATATATATAAAATATATATATA TAATATATATATAAAATATATATATATATTATATATATATATAAAATATA TATAAAATATATATATAATATATATATAAAATATATATATAATATATATA TAAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	410	0.0024	253	c.67- others(266): Show c.67-824_67-823insATTATATATATATTATATATATATTTTATATA TATATTATATATATATTTTATATATATTTTATATATATATATAATATATA TATATATTTTATATATATATTATATATATATATTTTATATATATATTTTA TATATATATATTATATATATATTTTATATATATATTTTATATATATATAT TATATATATATATTTTATATATATATATTATATATATATATTTTATATAT ATATATTATATATATATATTT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNF148_chr7_122696668_122707922	122705879	A A	AATAAATA others(246): Show AATAAATATAATATAATATAATATATAATATAATATATAATATATAATAT AATATATAATATATAATATATAATATAATATATAATATATAATATATTAT ATAATATAATGTATAATATATTATATAATATAATGTATAATATATTATAT AATATAATGTATAATATATTATATAATATAATATATAATATATTATATAA TATAATATATAATATATTATATAATATAATATATAATATATTATATAATA TAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02735.hp2 HG03710.hp2 others(2): Show HG02602.hp2 HG02735.hp2 HG03710.hp2 HG04228.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	432	0.0116	253	c.-31 others(264): Show c.-3130_-3129insATTATATTATATAATATATTATATATTATATTAT ATAATATATTATATATTATATTATATAATATATTATATATTATATTATAT AATATATTATACATTATATTATATAATATATTATACATTATATTATATAA TATATTATACATTATATTATATAATATATTATATATTATATATTATATTA TATATTATATATTATATATTATATTATATATTATATATTATATTATATAT TATATTATATTATATTTAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2958		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(246): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATAATATAATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATTATATAATATAATATATAATATATTATATAATATAATATATAATA TATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	253	c.-31 others(264): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAT ATTATATTATATAATATATTATATATTATATTATATAATATATTATACAT TATATTATATAATATATTATATATTATATTATATTATATATTATATATTA TATTATATTATATATTATATATTATATATTATATTATATATTATATATTA TATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(246): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATTATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATTATATAATATAATATATAATATATTATATAATATAATATATAATA TATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02622.hp1 NA20129.hp2 HG00639.hp1 HG02622.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	432	0.0069	253	c.-31 others(264): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAT ATTATATTATATAATATATTATATATTATATTATATAATATATTATACAT TATATTATATAATATATTATATATTATATAATATAATATATTATATATTA TATTATATTATATATTATATATTATATATTATATTATATATTATATATTA TATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF17_chr13_24759169_24884921	24882027	G G	GATAGATA others(246): Show GATAGATACATCTATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	426	0.0024	253	c.23 others(264): Show c.2301_*2302insATAGATACATCTATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2107		chr13	TogoVar
RPS6KB1_chr17_59888121_59955574	59929310	T T	TTTTTTTT others(246): Show TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCATGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	304	0.0033	253	c.530 others(268): Show c.530-807_530-806insTTTTTTTTTTTTTTTTTTTTTTATTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGG	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	5/14			chr17	TogoVar
RPS6KB1_chr17_59888121_59955574	59929310	T T	TTTTTTTT others(246): Show TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCATGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	304	0.0033	253	c.530 others(268): Show c.530-807_530-806insTTTTTTTTTTTTTTTTTTTTTTTATTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGG	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	5/14			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(246): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0068 a0001c0006t0013g0068	1	196	0.0051	253	c.393 others(270): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963426	C C	CTGCGGCC others(246): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0009 a0001c0023t0009	a0001c0023t0009g0071 a0001c0023t0009g0071	1	196	0.0051	253	c.393 others(270): Show c.3939+391_3939+392insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963541	C C	CTGCGGCC others(246): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19005.hp2 HG03540.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0009 a0001c0012t0018 a0001c0001t0009 a0001c0012t0018	a0001c0001t0009g0030 a0001c0012t0018g0194 a0001c0001t0009g0030 a0001c0012t0018g0194	2	196	0.0102	253	c.393 others(270): Show c.3939+529_3939+530insCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963679	G G	GTGCGGCC others(246): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0065 a0001c0021t0065	a0001c0021t0065g0112 a0001c0021t0065g0112	1	196	0.0051	253	c.394 others(270): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(246): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0008 a0001c0023t0008	a0001c0023t0008g0134 a0001c0023t0008g0134	1	196	0.0051	253	c.394 others(270): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(246): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0018 a0002c0062t0018	a0002c0062t0018g0191 a0002c0062t0018g0191	1	196	0.0051	253	c.394 others(270): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTP5_chr2_241864729_241878823	241873420	G G	GGCCCCGC others(246): Show GGCCCCGCCCCCCGCCTCCGAGACCCCGCCTCACCTCCGACGCCCCGCCC CCCGCCTCCGAGACCCCGCCCTGCCTCTGAGACCCCGCCTCACCTCTGAG ACACCCCCCAACCCCACCTTTGAGATGCCCGCCCCGCCTCCGTGGCCCCG CCTCCACCTCCGAGACCCCGCCTCCACCTCCGAGACCCCTTTCTCTGAGA CCCCCGCCTCTGAGGCCCCGCCCCCCGCCTCCGAGACCCCGCCTCACCTC CGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 NA19240.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	2	365	0.0055	253	c.17 others(262): Show c.175_*176insTCACCTCCGACGCCCCGCCCCCCGCCTCCGAGACCC CGCCCTGCCTCTGAGACCCCGCCTCACCTCTGAGACACCCCCCAACCCCA CCTTTGAGATGCCCGCCCCGCCTCCGTGGCCCCGCCTCCACCTCCGAGAC CCCGCCTCCACCTCCGAGACCCCTTTCTCTGAGACCCCCGCCTCTGAGGC CCCGCCCCCCGCCTCCGAGACCCCGCCTCACCTCCGACGCCCCGCCCCCC GCCTCCGAGACCCCGCC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding	2/2	176	INFO_REALIGN_3_PRIME	chr2	TogoVar
SAMD11_chr1_918923_949574	934161	G G	GCGTTACA others(246): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0003 a0006c0024t0003	a0006c0024t0003g0208 a0006c0024t0003g0208	1	434	0.0023	253	c.843 others(270): Show c.843-1597_843-1596insGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934329	G G	GCGTTACA others(246): Show GCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCAGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCT GCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0200 a0001c0001t0013g0200	1	434	0.0023	253	c.843 others(270): Show c.843-1420_843-1419insTGCTCCGTTACAGGTGGGCAGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGC TCCGTTACAGGTGGGCGGGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133669269	C C	CTCTCTCC others(246): Show CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCCTCCATCTCCCTCACCCTCCCCTCTCCCCTTACCCTCCCTCTCC CCTCATCCTCCCTCACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCT TCCCTCTCCCTTACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCT CCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCC CTCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0003 a0002c0018t0003	a0002c0018t0003g0104 a0002c0018t0003g0104	1	262	0.0038	253	c.249 others(272): Show c.2495+1314_2495+1315insAGAGGGAAGGTGAGGGAGAGGGAGGG TAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGT GAGGGAGATGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGA GGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTAAGGGGAGA GGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAG GGAGGGTAAGGGAGAGGGAAGGAGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(246): Show TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	324	0.0031	253	c.115 others(270): Show c.115-2620_115-2619insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CCTATATA others(246): Show CCTATATATATATTCCCTATATATATATTCCCTATATATATATTCCCTAT ATATATATTCCATATATATATATTCCATATATATATTCCATATATATATA TTCCATATATATATATTTCATATATATATATTCCATATATATATTCCATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATATATATATTCCATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	324	0.0031	253	c.115 others(270): Show c.115-2706_115-2705insATATATATATATATATATATGGAATATA TATATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGAAATATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGAAT ATATATATAGGGAATATATATATAG	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SIGIRR_chr11_400716_419999	401951	C C	CCGCTCAC others(246): Show CCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACC CCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGG ACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACC CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	242	0.0041	253	c.39 others(264): Show c.3944_*3945insTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGT GAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGG TCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGA GCGGGGCCCGGGGTGAGCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3764		chr11	TogoVar

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