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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PGR_chr11_101024624_101134813	101041048	T T	TAAAAATG others(313): Show TAAAAATGTTTTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01074.hp1 others(9): Show HG00099.hp1 HG00423.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG01993.hp2 HG02738.hp1 HG03490.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0002c0016 a0010c0013 a0002c0004 a0002c0016 a0010c0013	a0002c0004t0005 a0002c0004t0015 a0002c0004t0020 others(6): Show a0002c0004t0005 a0002c0004t0015 a0002c0004t0020 a0002c0004t0021 a0002c0004t0043 a0002c0004t0044 a0002c0004t0045 a0002c0016t0005 a0010c0013t0015	a0002c0004t0005g0026 a0002c0004t0005g0033 a0002c0004t0015g0022 others(9): Show a0002c0004t0005g0026 a0002c0004t0005g0033 a0002c0004t0015g0022 a0002c0004t0020g0024 a0002c0004t0020g0029 a0002c0004t0021g0036 a0002c0004t0021g0037 a0002c0004t0043g0032 a0002c0004t0044g0028 a0002c0004t0045g0035 a0002c0016t0005g0030 a0010c0013t0015g0020	12	254	0.0472	320	c.264 others(337): Show c.2646+896_2646+897insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCAGAAAACATTTTT	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	7/7			chr11	TogoVar
PHACTR4_chr1_28364740_28505364	28419029	T T	TCTACTTT others(313): Show TCTACTTTTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCAACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp2 others(10): Show HG01069.hp2 HG01071.hp1 HG01109.hp2 HG02055.hp2 HG02145.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0001c0003t0006 a0001c0003t0010 others(2): Show a0001c0003t0004 a0001c0003t0006 a0001c0003t0010 a0001c0003t0036 a0002c0002t0007	a0001c0003t0004g0128 a0001c0003t0004g0223 a0001c0003t0004g0224 others(10): Show a0001c0003t0004g0128 a0001c0003t0004g0223 a0001c0003t0004g0224 a0001c0003t0004g0225 a0001c0003t0004g0227 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0138 a0001c0003t0006g0148 a0001c0003t0010g0133 a0001c0003t0036g0137 a0002c0002t0007g0136 a0002c0002t0007g0139	13	228	0.0570	320	c.16+ others(337): Show c.16+11585_16+11586insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCAACCTCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCTACTTTTATGATTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28419029	T T	TCTACTTT others(313): Show TCTACTTTTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(49): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG02080.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp2 HG02717.hp2 HG02735.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18947.hp2 NA18957.hp2 NA18964.hp1 NA18978.hp1 NA18993.hp2 NA18998.hp2 NA19030.hp1 NA19054.hp2 NA19064.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0008 a0002c0002t0002 a0002c0002t0003 others(9): Show a0001c0005t0008 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0026 a0002c0002t0028 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032	a0001c0005t0008g0091 a0001c0005t0008g0092 a0001c0005t0008g0154 others(49): Show a0001c0005t0008g0091 a0001c0005t0008g0092 a0001c0005t0008g0154 a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0149 a0002c0002t0002g0155 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0169 a0002c0002t0002g0178 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0003g0165 a0002c0002t0003g0170 a0002c0002t0003g0172 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0179 a0002c0002t0003g0186 a0002c0002t0003g0201 a0002c0002t0003g0228 a0002c0002t0007g0123 a0002c0002t0007g0124 a0002c0002t0015g0163 a0002c0002t0016g0190 a0002c0002t0017g0184 a0002c0002t0017g0188 a0002c0002t0026g0209 a0002c0002t0028g0219 a0002c0002t0030g0164 a0002c0002t0031g0208 a0002c0002t0032g0024	52	228	0.2281	320	c.16+ others(337): Show c.16+11585_16+11586insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCTACTTTTATGATTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28419029	T T	TCTACTTT others(313): Show TCTACTTTTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	228	0.0044	320	c.16+ others(337): Show c.16+11585_16+11586insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCTGCCACCTCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCTACTTTTATGATTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHF2_chr9_93571584_93684587	93609090	T T	TTTAGTGG others(313): Show TTTAGTGGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	350	0.0029	320	c.99- others(337): Show c.99-20866_99-20865insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTTAGTGGTTGTTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHTF2_chr7_77793773_77962225	77945480	T T	TAAAAACT others(313): Show TAAAAACTAATACCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAGCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	314	0.0032	320	c.185 others(339): Show c.1857+2709_1857+2710insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAGCCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTAATACCAA	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIAS4_chr19_4002736_4044386	4026295	G G	GCTAATTT others(313): Show GCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02572.hp2 others(6): Show HG02257.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0002t0004 a0001c0006t0004 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0006t0004 a0001c0006t0008	a0001c0002t0003g0227 a0001c0002t0004g0166 a0001c0002t0004g0297 others(6): Show a0001c0002t0003g0227 a0001c0002t0004g0166 a0001c0002t0004g0297 a0001c0006t0004g0029 a0001c0006t0004g0031 a0001c0006t0004g0032 a0001c0006t0004g0034 a0001c0006t0004g0036 a0001c0006t0008g0027	9	334	0.0270	320	c.540 others(337): Show c.540-1842_540-1841insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAATTTTT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO2_chr18_10665247_11154569	10911127	G G	GAAGAAAT others(313): Show GAAGAAATTACTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAACGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCA CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp1 HG02148.hp2 others(1): Show HG01981.hp1 HG02148.hp1 HG02148.hp2 NA18957.hp1	a0001 a0003 a0027 a0001 a0003 a0027	a0001c0007 a0003c0012 a0027c0081 a0001c0007 a0003c0012 a0027c0081	a0001c0007t0001 a0003c0012t0001 a0027c0081t0002 a0001c0007t0001 a0003c0012t0001 a0027c0081t0002	a0001c0007t0001g0100 a0003c0012t0001g0032 a0003c0012t0001g0098 others(1): Show a0001c0007t0001g0100 a0003c0012t0001g0032 a0003c0012t0001g0098 a0027c0081t0002g0095	4	158	0.0253	320	c.329 others(333): Show c.329+58_329+59insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCGTTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCAGTAATTTCTT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10911127	G G	GAAGAAAT others(313): Show GAAGAAATTACTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00609.hp2 others(29): Show HG00558.hp1 HG00609.hp1 HG00609.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01517.hp1 HG01943.hp1 HG02056.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18957.hp2 NA18994.hp1 NA18994.hp2 NA19063.hp1 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0013 a0023 a0024 a0028 a0029 a0032	a0001c0002 a0001c0006 a0001c0007 others(25): Show a0001c0002 a0001c0006 a0001c0007 a0001c0033 a0001c0087 a0002c0001 a0002c0023 a0002c0038 a0002c0071 a0002c0076 a0003c0009 a0003c0050 a0004c0005 a0004c0022 a0004c0049 a0005c0008 a0005c0013 a0006c0004 a0007c0026 a0007c0086 a0007c0090 a0009c0010 a0013c0089 a0023c0048 a0024c0092 a0028c0037 a0029c0043 a0032c0052	a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 others(27): Show a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0033t0002 a0001c0087t0001 a0002c0001t0001 a0002c0001t0002 a0002c0023t0001 a0002c0038t0001 a0002c0071t0002 a0002c0076t0002 a0003c0009t0001 a0003c0050t0001 a0004c0005t0002 a0004c0022t0002 a0004c0049t0002 a0005c0008t0001 a0005c0013t0001 a0006c0004t0003 a0007c0026t0001 a0007c0086t0001 a0007c0090t0001 a0009c0010t0001 a0009c0010t0002 a0013c0089t0002 a0023c0048t0001 a0024c0092t0002 a0028c0037t0002 a0029c0043t0002 a0032c0052t0001	a0001c0002t0001g0108 a0001c0006t0001g0099 a0001c0006t0001g0138 others(29): Show a0001c0002t0001g0108 a0001c0006t0001g0099 a0001c0006t0001g0138 a0001c0007t0001g0041 a0001c0033t0002g0035 a0001c0087t0001g0033 a0002c0001t0001g0043 a0002c0001t0001g0057 a0002c0001t0002g0146 a0002c0023t0001g0021 a0002c0038t0001g0024 a0002c0071t0002g0125 a0002c0076t0002g0111 a0003c0009t0001g0052 a0003c0050t0001g0056 a0004c0005t0002g0080 a0004c0022t0002g0042 a0004c0049t0002g0101 a0005c0008t0001g0023 a0005c0013t0001g0049 a0006c0004t0003g0084 a0007c0026t0001g0007 a0007c0086t0001g0009 a0007c0090t0001g0134 a0009c0010t0001g0076 a0009c0010t0002g0154 a0013c0089t0002g0060 a0023c0048t0001g0047 a0024c0092t0002g0046 a0028c0037t0002g0133 a0029c0043t0002g0036 a0032c0052t0001g0097	32	158	0.2025	320	c.329 others(333): Show c.329+58_329+59insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCAGTAATTTCTT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGL_chr17_16212210_16331411	16330606	C C	CAAGACCA others(313): Show CAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	246	0.0041	320	c.47 others(331): Show c.4708_*4709insAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		4196		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(313): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	312	0.0032	320	c.53 others(331): Show c.5377_*5378insGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGG AGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(313): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0134 a0001c0001t0048g0134	1	218	0.0046	320	c.262 others(335): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKHD1_chr6_51610299_52092613	52064864	G G	GAAAGAAT others(313): Show GAAAGAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0065 a0002c0065	a0002c0065t0007 a0002c0065t0007	a0002c0065t0007g0068 a0002c0065t0007g0068	1	134	0.0075	320	c.976 others(333): Show c.976+90_976+91insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTCTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	13/66			chr6	TogoVar
PKP3_chr11_389209_409908	401808	G G	GGCCCCGC others(313): Show GGCCCCGCCCACCCCGGACCCCCGCTCACCCCGGACCCCGCTCACCCCCC GGGCCCCGCTCACCCCCCGGCCCCCGCTCACCCCCCGACCCGCTCACCCC CGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCCGCTCACACCCGA CCCGCGCTCACACCCGACCCGCTCACCCCCCGACCCGCTCACCCCCCGAC CCCGCTCACCCCAGCCCCGCTCACCCCCCGACCCCGCTCACCCCGGACCC CGCTCACACCGGACCCCCGCTCACACACCCGGCCCCGCTCACACCCGACC CGCTCACCCCCCGACCCGCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	216	0.0046	320	c.173 others(339): Show c.1737+1103_1737+1104insGCCCCGCCCACCCCGGACCCCCGCTC ACCCCGGACCCCGCTCACCCCCCGGGCCCCGCTCACCCCCCGGCCCCCGC TCACCCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCA CACCCGCCCCCGCTCACACCCGACCCGCGCTCACACCCGACCCGCTCACC CCCCGACCCGCTCACCCCCCGACCCCGCTCACCCCAGCCCCGCTCACCCC CCGACCCCGCTCACCCCGGACCCCGCTCACACCGGACCCCCGCTCACACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCCGACCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLAUR_chr19_43643579_43675169	43656241	C C	CAAGACTC others(313): Show CAAGACTCTGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02886.hp1 HG02970.hp2 others(1): Show HG00280.hp1 HG02886.hp1 HG02970.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0225 a0001c0001t0001g0239 a0002c0002t0002g0280 others(1): Show a0001c0001t0001g0225 a0001c0001t0001g0239 a0002c0002t0002g0280 a0002c0002t0002g0354	4	442	0.0091	320	c.472 others(335): Show c.472+237_472+238insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGAGACAGAGTCTT	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding	4/6			chr19	TogoVar
PLEKHA6_chr1_204213853_204364929	204269327	C C	CAGAAACC others(313): Show CAGAAACCTCATCTATTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTC AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	270	0.0037	320	c.103 others(337): Show c.103-1016_103-1015insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGACAATAGATGAGGTTTCT	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	3/22			chr1	TogoVar
PLIN1_chr15_89659367_89684367	89663631	T T	TCCAGGGC others(313): Show TCCAGGGCCACAGAGTCAGTTCCAGGGCCACAGAGTCAGCGCCAGGGCCA CAGAGTCAGCGCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGT TCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGCTCCAGGGCCA CAGAGTCAGCGCCAGGGCCACAGAGTCAGCTCCAGGGCCACAGAGTCAGC GCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGCGCCAGGGCCA CAGAGTCAGTTCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGT TCCAGGGCCACAGAGTCAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03579.hp1 HG02809.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0214 a0001c0004t0007g0215 a0001c0004t0007g0214 a0001c0004t0007g0215	2	460	0.0044	320	c.19 others(331): Show c.1951_*1952insCGCTGACTCTGTGGCCCTGGAACTGACTCTGTGG CCCTGGCGCTGACTCTGTGGCCCTGGAACTGACTCTGTGGCCCTGGCGCT GACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGCGCTGACTCTGTGG CCCTGGAGCTGACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGAGCT GACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGAACTGACTCTGTGG CCCTGGCGCTGACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGCGCT GACTCTGTGGCCCTGGAACTGACTCTGTGGCCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		735		chr15	TogoVar
PLSCR4_chr3_146187335_146256105	146230984	A A	ACTGACAG others(313): Show ACTGACAGGTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp1 HG02647.hp1 others(2): Show HG01255.hp1 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0028 a0003c0003t0010 a0003c0003t0028	a0003c0003t0010g0158 a0003c0003t0010g0159 a0003c0003t0010g0160 others(2): Show a0003c0003t0010g0158 a0003c0003t0010g0159 a0003c0003t0010g0160 a0003c0003t0010g0161 a0003c0003t0028g0156	5	380	0.0132	320	c.-21 others(337): Show c.-21-8893_-21-8892insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTACCTGTCAG	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding	1/8			chr3	TogoVar
PMP2_chr8_81435326_81452439	81438175	C C	CCAAACTT others(313): Show CCAAACTTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA ACAAAAAACAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02273.hp1 NA18940.hp2 others(2): Show HG01192.hp1 HG02273.hp1 NA18940.hp2 NA19058.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0001 a0001c0002t0004g0004 a0001c0002t0001g0001 a0001c0002t0004g0004	5	428	0.0117	320	c.52 others(331): Show c.5222_*5223insTTTTTTTTTTTTGTTTTTTGTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGAAAGTTTG	PMP2	ENSG00000147588.7	transcript	ENST00000256103.3	protein_coding		2150		chr8	TogoVar
POC1B_chr12_89414718_89531047	89454961	T T	TAAAGATT others(313): Show TAAAGATTCTAAACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCAGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03209.hp2 others(1): Show HG02622.hp2 HG02717.hp2 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0362 a0001c0001t0008g0363 a0001c0001t0008g0364 others(1): Show a0001c0001t0008g0362 a0001c0001t0008g0363 a0001c0001t0008g0364 a0001c0001t0015g0361	4	370	0.0108	320	c.111 others(339): Show c.1113+4676_1113+4677insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCTGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTAGTTTAGAATCTTT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	10/11			chr12	TogoVar
POLN_chr4_2066918_2247121	2226615	T T	TAACAGTC others(313): Show TAACAGTCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0011 a0001c0003t0003g0011	1	194	0.0052	320	c.133 others(337): Show c.133+2483_133+2484insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATTGGACTGTT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	3/25			chr4	TogoVar
POTEG_chr14_19397486_19439341	19426183	T T	TAAAACTC others(313): Show TAAAACTCACACTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0011 a0026c0035t0011	a0026c0035t0011g0009 a0026c0035t0011g0009	1	111	0.0090	320	c.811 others(335): Show c.811-472_811-471insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCAGTGTGAGTTTT	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding	3/10			chr14	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(313): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACC GGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGG GCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCT GGATGGTTTCCAGGGCTAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01361.hp2 others(1): Show HG00741.hp2 HG01261.hp2 HG01361.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0057	a0001c0001t0001g0179 a0001c0001t0002g0326 a0001c0001t0012g0351 others(1): Show a0001c0001t0001g0179 a0001c0001t0002g0326 a0001c0001t0012g0351 a0001c0001t0057g0178	4	440	0.0091	320	c.847 others(335): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCCGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAG CCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGC CGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGAC	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10			chr12	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(313): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCTGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACC GGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGG GCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCTGCT GGATGGTTTCCAGGGCTAGGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	440	0.0023	320	c.847 others(335): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCAGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCAGGTAGACCCCTAG CCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGC CGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGAC	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10			chr12	TogoVar
PPAT_chr4_56388362_56440615	56392004	T T	TTTTTTTT others(313): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAGGTATAAAGTTCTTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0003 a0001c0003t0005g0003	1	384	0.0026	320	c.33 others(331): Show c.3347_*3348insTTTAAGAACTTTATACCTGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding		1357		chr4	TogoVar
PPAT_chr4_56388362_56440615	56392004	T T	TTTTTTTT others(313): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAGGTATAAAGTTCTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02027.hp1 HG02056.hp2 others(6): Show HG01109.hp1 HG02027.hp1 HG02056.hp2 HG02129.hp1 HG02647.hp2 HG03688.hp2 NA19058.hp1 NA19077.hp1 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0003 a0001c0003t0005g0029 a0001c0003t0005g0195 others(6): Show a0001c0003t0005g0003 a0001c0003t0005g0029 a0001c0003t0005g0195 a0001c0003t0005g0198 a0001c0003t0005g0203 a0001c0003t0005g0208 a0001c0003t0005g0211 a0001c0003t0005g0220 a0001c0003t0005g0221	9	384	0.0234	320	c.33 others(331): Show c.3347_*3348insTTAAGAACTTTATACCTGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding		1357		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(313): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp2 HG02015.hp2 HG01496.hp1 HG01934.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0064 a0001c0001t0001g0128 a0001c0001t0001g0145	3	270	0.0111	320	c.200 others(337): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPP1R9A_chr7_94902594_95301400	95087016	C C	CAAAAAAT others(313): Show CAAAAAATAAGACAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0020 a0004c0005t0020	a0004c0005t0020g0203 a0004c0005t0020g0203	1	290	0.0035	320	c.139 others(341): Show c.1396-24226_1396-24225insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAGACAAGTA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R5C_chr14_101756709_101932977	101782548	C C	CTGTCTCT others(313): Show CTGTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCC CTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCC CCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCT CTCTCCCCTCTGTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTC CCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCC TCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCC CTTCCCTCTCTCTCCCCTCTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03688.hp1 HG03486.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0062 a0002c0002t0004g0119 a0001c0001t0002g0062 a0002c0002t0004g0119	2	138	0.0145	320	c.94- others(335): Show c.94-3469_94-3468insGTCTCTTTCTCCCCTTCCCTCTCTCTCCCC CCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCC CCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCT CTTTCTCCCCTTCCCTCTCTCTCCCCTCTGTCTCTTTCTCCCCTTCCCTC TCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTC CCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCT TCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(313): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCG GGGGCCCCGCGGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	358	0.0028	320	c.30 others(331): Show c.3027_*3028insCGCGCCCCCCCGCGGGGCCCCCGCCGCCGCCGCC GCCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGT CGCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCA CAGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCC CGGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(313): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGGCGCTGTGGCGGCGGCGG CGGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGC GGTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGC GGGGGCCCCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	358	0.0028	320	c.30 others(331): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCC CGGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(313): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGG CGGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGC GGTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGC GGGGGCCCCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	358	0.0028	320	c.30 others(331): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCAC AGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCCGCGCGCAGCGG GCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGT GGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCC CGGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PSD3_chr8_18522303_19018703	18759952	T T	TAGAAATG others(313): Show TAGAAATGCAGAGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02572.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0026 a0001c0013t0001 a0001c0001t0026 a0001c0013t0001	a0001c0001t0026g0161 a0001c0013t0001g0121 a0001c0001t0026g0161 a0001c0013t0001g0121	2	228	0.0088	320	c.217 others(339): Show c.2172+5496_2172+5497insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAATCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACGGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCTGCTCTGCATTTCT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSTK_chr10_122975401_122995390	122976474	T T	TAAAGAAG others(313): Show TAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(43): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01361.hp1 HG01928.hp1 HG02004.hp1 HG02083.hp1 HG02155.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG03195.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp2 NA18988.hp2 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0003 a0002c0002 a0002c0005 a0003c0003	a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0033 others(20): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0049 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0128 a0002c0005t0001g0004 a0002c0005t0001g0012 a0002c0005t0001g0015 a0002c0005t0001g0028 a0002c0005t0001g0102 a0002c0005t0001g0111 a0002c0005t0001g0112 a0002c0005t0001g0113 a0002c0005t0001g0114 a0002c0005t0001g0129 a0002c0005t0001g0139 a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0010	46	416	0.1106	320	c.-40 others(331): Show c.-4006_-4005insAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding		3926		chr10	TogoVar
PSTK_chr10_122975401_122995390	122976474	T T	TAAAGAAG others(313): Show TAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTACACTCCAGCCTGGGCGAGAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0004 a0002c0005t0001g0004	1	416	0.0024	320	c.-40 others(331): Show c.-4006_-4005insAAAGAAGGAGCAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTACACTCCAGCCTGGGCGAGAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding		3926		chr10	TogoVar
PTDSS2_chr11_445279_496399	459234	C C	CGGACCTG others(313): Show CGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	346	0.0029	320	c.183 others(335): Show c.183-931_183-930insTACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRG_chr3_61556571_62302609	61901353	T T	TTGAGTTC others(313): Show TTGAGTTCTGTGATGCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0008 a0003c0004t0003g0008	1	94	0.0106	320	c.191 others(339): Show c.191-88257_191-88256insTGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAATAAAATGAGTTCTGTGATGC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRT_chr20_42067756_43194906	42305471	G G	GCTGAATT others(313): Show GCTGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCACAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAAACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0019 a0002c0001t0011g0019	1	62	0.0161	320	c.213 others(341): Show c.2139+10251_2139+10252insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTTTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGTGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	12/30			chr20	TogoVar
RAB11FIP4_chr17_31386675_31543211	31515456	A A	ATATTGCC others(313): Show ATATTGCCATCTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02004.hp2 HG02257.hp1 others(1): Show HG00099.hp2 HG02004.hp2 HG02257.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0023 a0001c0003t0006 a0001c0003t0023	a0001c0003t0006g0130 a0001c0003t0006g0137 a0001c0003t0006g0145 others(1): Show a0001c0003t0006g0130 a0001c0003t0006g0137 a0001c0003t0006g0145 a0001c0003t0023g0140	4	310	0.0129	320	c.337 others(337): Show c.337-2178_337-2177insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTATTGCCATCTATTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB27A_chr15_55197966_55294813	55209927	T T	TATATGTG others(313): Show TATATGTGTATATATACGTATATACACACATATATGTGTATATATACGTA TACACACACATATATGCGTATATATACGTATACATACACATATATGCGTA TATATACGTATATACACACATATGTGTGTATATATACGTATATACACACA TATGTGTGTATATACGTATATACACACATATGTGTGTATACGTATATATA CACACATATATGTGTATATACGGATATACACATATATGTGTGTATATATA CGTATATACACACATATGTGTGTATATATACGTATATACACATATATGTG TGTATATCCGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp1 HG02559.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0220 a0001c0001t0011g0301 a0001c0001t0011g0220 a0001c0001t0011g0301	2	320	0.0063	320	c.468 others(337): Show c.468-4223_468-4222insGTGTATATATACGGATATACACACATAT ATGTGTATATACGTATATATACACACATATGTGTGTATATACGTATATAT ACACACATATATGTGTATATCCGTATATACACATATATGTGTGTATATAT ACGTATACACACATATGTGTGTATATACGTATATACACACATATGTGTGT ATATACGTATATATACACACATATGTGTGTATATACGTATATATACGCAT ATATGTGTATGTATACGTATATATACGCATATATGTGTGTGTATACGTAT ATATACACATATATGTGTGTATATACGTATATATACACATAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209927	T T	TATATGTG others(313): Show TATATGTGTATATATACGTATATACACACATATATGTGTATATATACGTA TATACACACATATGTGTATATATACGTATACATACACACATATATGTGTA TATATACGTATACATACACATATGTGTATATATACGTATACATACACATA TATGCGTATATATACGTATATACACACATGTGTGTATATATACGTATATA CACACATATGTGTGTGTATACGGATATACACATATATGTGTGTATATATA CGTATATACACACATATGTGTGTATATATACGTATATACACATATATGTG TGTATATCCGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0219 a0001c0001t0027g0219	1	320	0.0031	320	c.468 others(337): Show c.468-4223_468-4222insGTGTATATATACGGATATACACACATAT ATGTGTATATACGTATATATACACACATATGTGTGTATATACGTATATAT ACACACATATATGTGTATATCCGTATACACACACATATGTGTGTATATAC GTATATATACACACATGTGTGTATATACGTATATATACGCATATATGTGT ATGTATACGTATATATACACATATGTGTATGTATACGTATATATACACAT ATATGTGTGTATGTATACGTATATATACACATATGTGTGTATATACGTAT ATATACACATATATGTGTGTATATACGTATATATACACATAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RABGAP1L_chr1_174154520_175000308	174515500	G G	GGAGATCT others(313): Show GGAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03688.hp1 others(1): Show HG01516.hp2 HG01517.hp1 HG03688.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0008g0269 others(1): Show a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0008g0269 a0001c0001t0008g0270	4	272	0.0147	320	c.171 others(343): Show c.1710+121363_1710+121364insTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAATG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATCTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASGEF1A_chr10_43189535_43272065	43210854	C C	CCCTTGCA others(313): Show CCCTTGCAGGGAGTTGGGGACAGGCTTGCACCCAGTAGCCCCTCTGACTC CTTGGAGCAGCAGCTCCTTGCAGGGAGTGGGGGACAGGCTTGCACCCAGT AGCCCCTCTGACTCCTTGGAGCAGCAGCCCCTTGCAGGGAGTGGGGGACA GGCTTGCACCCAGTAGCCCCTCTGACTCCTTGGAGCAGCAGCTCCTTGCA GGGAGTTGGGGACAGGCTTGCACCCAGTAGCCCCTCTGACTCCTTGGAGC AGCAGCCCCTTGCAGGGAGTGGGGGACAGGCTTGCACCCAGTAGCCCCTC TGACTCCTTGGAGCAGCAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(50): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00639.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02486.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18906.hp1 NA18946.hp2 NA18947.hp2 NA18967.hp2 NA18973.hp1 NA18997.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19064.hp1 NA19068.hp2 NA19079.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0001 a0001c0001t0011 a0001c0001t0017	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0032 others(43): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0168 a0001c0001t0001g0220 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0011g0031 a0001c0001t0017g0291	53	350	0.1514	320	c.-6- others(335): Show c.-6-4733_-6-4732insAGCTGCTGCTCCAAGGAGTCAGAGGGGCTA CTGGGTGCAAGCCTGTCCCCCACTCCCTGCAAGGGGCTGCTGCTCCAAGG AGTCAGAGGGGCTACTGGGTGCAAGCCTGTCCCCAACTCCCTGCAAGGAG CTGCTGCTCCAAGGAGTCAGAGGGGCTACTGGGTGCAAGCCTGTCCCCCA CTCCCTGCAAGGGGCTGCTGCTCCAAGGAGTCAGAGGGGCTACTGGGTGC AAGCCTGTCCCCCACTCCCTGCAAGGAGCTGCTGCTCCAAGGAGTCAGAG GGGCTACTGGGTGCAAGCCTGTCCCCAACTCCCTGCAAGG	RASGEF1A	ENSG00000198915.12	transcript	ENST00000395810.6	protein_coding	1/12			chr10	TogoVar
RBFOX1_chr16_6014024_7718340	7491380	T T	TAAGATTC others(313): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03927.hp1 HG03927.hp2 HG00280.hp1 HG03927.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0024 a0001c0004t0001 a0001c0001t0002 a0001c0001t0024 a0001c0004t0001	a0001c0001t0002g0012 a0001c0001t0024g0008 a0001c0004t0001g0060 a0001c0001t0002g0012 a0001c0001t0024g0008 a0001c0004t0001g0060	3	68	0.0441	320	c.28- others(337): Show c.28-26754_28-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACTGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7491380	T T	TAAGATTC others(313): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACTGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02683.hp1 HG02683.hp2 others(4): Show HG00280.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0030 a0001c0033	a0001c0001t0001 a0001c0001t0049 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0049 a0001c0002t0002 a0001c0003t0004 a0001c0007t0001 a0001c0030t0002 a0001c0033t0002	a0001c0001t0001g0204 a0001c0001t0049g0113 a0001c0002t0002g0130 others(4): Show a0001c0001t0001g0204 a0001c0001t0049g0113 a0001c0002t0002g0130 a0001c0003t0004g0142 a0001c0007t0001g0208 a0001c0030t0002g0232 a0001c0033t0002g0067	7	234	0.0299	320	c.88- others(337): Show c.88-26754_88-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACTGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79555308	T T	TGGTGGTA others(313): Show TGGTGGTATTGATGGAGATGATGATGACAGTGATAATGGTGGTGGTGGTA ATGGTGATTATATGTCAGTGATGGTGGTGGTGGTGGTGATGGTGATGATA GTCATGATGGTGGTGATAGTGATGGCAATGGTGATGATGGCAGTGATGGT GATTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTGATAATGG CGATGATGGTGGTGATGGTGATGATGATAGTAATGATGGTGGTGATGGCA GTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGACAGT GGTGGTGATGGTGGTGATGAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	154	0.0065	320	c.-32 others(341): Show c.-320+55517_-320+55518insGTCATCACCACCATCACCACCACT GTCATCACCACCATTATCACTATTATCACCACCGTTACCACCACCACTGC CATCACCACCATCATTACTATCATCATCACCATCACCACCATCATCGCCA TTATCACCATTACCATCGCCATCACCACCATCACTACTCTCATAATCACC ATCACTGCCATCATCACCATTGCCATCACTATCACCACCATCATGACTAT CATCACCATCACCACCACCACCACCATCACTGACATATAATCACCATTAC CACCACCACCATTATCACTGTCATCATCATCTCCATCAATACCACC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM11_chr21_14211157_14233372	14211281	T T	TAAATCAA others(313): Show TAAATCAATAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGGTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03130.hp2 HG03195.hp2 others(3): Show HG01891.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG06807.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0003c0003t0004	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0002c0002t0001g0046 a0002c0002t0007g0010 a0003c0003t0004g0008	6	458	0.0131	320	c.-49 others(331): Show c.-4906_-4905insAAATCAATAATGAGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGGTAACAGGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	RBM11	ENSG00000185272.14	transcript	ENST00000400577.4	protein_coding		4875		chr21	TogoVar
RBM44_chr2_237793779_237847805	237828868	T T	TTAGTTTT others(313): Show TTAGTTTTAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCT TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	378	0.0027	320	c.260 others(337): Show c.2601-334_2601-333insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAGTTTTAGGTTTTT	RBM44	ENSG00000177483.12	transcript	ENST00000316997.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
RBMS3_chr3_29276071_30015386	29473123	C C	CGATTGGT others(313): Show CGATTGGTGTATTTACAATCCCTTAGCTAGACATAAAGGTTCTCCAAGTC CCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCC TGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGA GACAGAGTGCTGATTGGTGTATTTACAATCCCTTAGCTAGACATAAAGGT TCTCCAAGTCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCAT TCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACC TTGAGCTAGAGACAGAGTGCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01934.hp2 NA18944.hp1 HG01928.hp2 HG01934.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0029 a0001c0001t0001 a0001c0001t0016 a0001c0001t0029	a0001c0001t0001g0042 a0001c0001t0016g0064 a0001c0001t0029g0116 a0001c0001t0001g0042 a0001c0001t0016g0064 a0001c0001t0029g0116	3	116	0.0259	320	c.249 others(339): Show c.249-15281_249-15280insGTTCTCCAAGTCCCCACCAGAGTAGC TAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAG GGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGAGACAGAGTGCTGAT TGGTGTATTTACAATCCCTTAGCTAGACATAAAGGTTCTCCAAGTCCCCA CCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAG CTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGAGACA GAGTGCTGATTGGTGTATTTACAATCCCTTAGCTAGACATAAAG	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RCBTB1_chr13_49526946_49590558	49548851	T T	TAAAACAA others(313): Show TAAAACAATTTAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0004 a0002c0013t0004	a0002c0013t0004g0256 a0002c0013t0004g0256	1	418	0.0024	320	c.104 others(337): Show c.1045+606_1045+607insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGG CTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTT TTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTCTAAATTGTTTT	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	9/12			chr13	TogoVar

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