Joint Open Genome and Omics Platform (JoGo)

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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
PRPF8_chr17_1645629_1689867	1689534	G G	GGACGGGG others(42): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	287	0.0035	49	c.-47 others(60): Show c.-4767_-4766insTTGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCG GCCAGCCGCCCCGTC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4668		chr17	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0118 a0005c0005t0001g0118	1	92	0.0109	49	c.-51 others(66): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRTN3_chr19_835999_853175	844284	C C	CCGCGCCT others(42): Show CCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG03195.hp2 HG02055.hp2 HG02886.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118	3	388	0.0077	49	c.369 others(64): Show c.369+296_369+297insCTGCGCGCCTCTCCCCCGCCCGCGCCTCTC CCCCGCCCGCGCCTCTCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	844370	T T	TGCCTCTC others(42): Show TGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTGCGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp2 HG01978.hp2 others(30): Show HG01071.hp2 HG01891.hp2 HG01978.hp2 HG02257.hp2 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18980.hp2 NA18992.hp2 NA18995.hp2 NA19055.hp2 NA19077.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0031 others(27): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0003g0261 a0002c0002t0001g0107 a0002c0002t0001g0152	33	304	0.1086	49	c.369 others(64): Show c.369+346_369+394dupTTGCCCGCCCCTCTCCCCTGCCCGCGCCTC TCCCCTGCGCGCCTCTCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	844405	G G	GCCTCTCC others(42): Show GCCTCTCCCCTGCGCGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCGCGC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	414	0.0024	49	c.369 others(64): Show c.369+394_369+395insTTGCCCGCCCCTCTCCCCTGCCGCGCCCTC TCCCCTGCGCGCCTCTCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRXL2B_chr1_2581777_2596468	2592330	G G	GCCCCCCC others(42): Show GCCCCCCCTCCCCTGCCGTGCTGACGCCCCCTCCCCTGCAGCGCTGATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	225	0.0044	49	c.29 others(60): Show c.2903_*2904insCCCCCCCTCCCCTGCCGTGCTGACGCCCCCTCCC CTGCAGCGCTGATGC	PRXL2B	ENSG00000157870.17	transcript	ENST00000419916.8	protein_coding		863		chr1	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	156	0.0064	49	c.870 others(66): Show c.870-1095_870-1094insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSEN1_chr14_73131507_73228691	73184306	C C	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show HG02818.hp1 HG02922.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0028g0292	4	376	0.0106	49	c.481 others(66): Show c.481-2510_481-2509insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSME4_chr2_53859069_53975993	53940956	T T	TTTAAATA others(42): Show TTTAAATATATATATAATACATATATAAATATATATATATACATATTTAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02129.hp2 NA18945.hp2 others(5): Show HG00423.hp2 HG02129.hp2 NA18945.hp2 NA18961.hp1 NA18968.hp1 NA19062.hp2 NA19072.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0050 a0002c0002t0002g0093 a0002c0002t0002g0102 others(5): Show a0002c0002t0002g0050 a0002c0002t0002g0093 a0002c0002t0002g0102 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0004g0064	8	362	0.0221	49	c.501 others(64): Show c.501-957_501-956insTTAAATATGTATATATATATATTTATATAT GTATTATATATATATTTAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	81	0.0123	49	c.174 others(66): Show c.174+1096_174+1097insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCATCCCGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00673.hp2 others(33): Show HG00323.hp2 HG00621.hp2 HG00673.hp2 HG01175.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp2 HG02040.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 NA18940.hp2 NA18982.hp1 NA18987.hp2 NA18995.hp2 NA19000.hp1 NA19007.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 others(30): Show a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0008g0016 a0001c0001t0009g0015 a0001c0001t0010g0018 a0001c0001t0012g0036 a0001c0002t0003g0035	36	250	0.1440	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCGGGATGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp1 NA18522.hp1 others(1): Show HG02717.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 others(1): Show a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0111	4	218	0.0183	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779527	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCTGGAGGGAGGTGGGGGGGTCAGCCCCCCGCAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	215	0.0047	49	c.372 others(66): Show c.372+2858_372+2859insATGCGGGGGGCTGACCCCCCCACCTCCC TCCAGGACGGGGCGGCTGGCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779545	C C	CGGAGGGA others(42): Show CGGAGGGAGGTGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(176): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18961.hp1 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(176): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0007g0135 a0001c0001t0013g0118	179	205	0.8732	49	c.372 others(66): Show c.372+2840_372+2841insCGGACGGGGCGGCTGGCCATGCGGGGGG CTGACCCCCCCACCTCCCTCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779545	C C	CGGAGGGA others(42): Show CGGAGGGAGGTTGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	27	0.0370	49	c.372 others(66): Show c.372+2840_372+2841insCGGACGGGGCGGCTGGCCATGCGGGGGG CTGACCCCCCAACCTCCCTCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779562	G G	GTCAGCCC others(42): Show GTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	256	0.0039	49	c.372 others(66): Show c.372+2823_372+2824insACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCATGCGGGGGGCTGA	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTBP1_chr19_792452_817312	800135	T T	TTCGAACA others(42): Show TTCGAACATTGTTGGCCAGGCTGGTCTGGAACACAGGTGATGCACCCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0071 a0001c0001t0015g0071	1	386	0.0026	49	c.39+ others(62): Show c.39+692_39+693insTCGAACATTGTTGGCCAGGCTGGTCTGGAACA CAGGTGATGCACCCCCC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding	2/14			chr19	TogoVar
PTDSS2_chr11_445279_496399	485862	C C	CGGGCGCG others(42): Show CGGGCGCGCGTGTGCTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCACG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	344	0.0029	49	c.436 others(66): Show c.436-1074_436-1026dupGCGCGCGTGTGCTCACCGTGCGCGCAGG CGAGCGTAAACAGTGCACGGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPN12_chr7_77532295_77645069	77533807	A A	ACGCCGCC others(42): Show ACGCCGCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA19082.hp1 HG04199.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0062 a0002c0002t0001g0046 a0002c0002t0001g0062	2	305	0.0066	49	c.-37 others(60): Show c.-3740_-3739insCGCCGCCACCTCCCTCCCGGACGGGCGGCTGGCC GGGCAGGGGGCTGAC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3487		chr7	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	58	0.0172	49	c.859 others(66): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	58	0.0172	49	c.859 others(66): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01978.hp2 HG02055.hp2 others(2): Show HG01192.hp1 HG01978.hp2 HG02055.hp2 HG02148.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0208 a0001c0001t0002g0224 others(2): Show a0001c0001t0002g0187 a0001c0001t0002g0208 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0230	5	99	0.0505	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00639.hp1 others(54): Show HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01884.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 NA18612.hp1 NA18946.hp1 NA18972.hp1 NA18977.hp1 NA19030.hp1 NA19070.hp1 NA19085.hp2 NA20129.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0006 a0005c0009 others(1): Show a0001c0001 a0001c0006 a0005c0009 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0049 a0001c0001t0055 a0001c0001t0056 a0001c0006t0003 a0005c0009t0001 a0007c0008t0004	a0001c0001t0001g0027 a0001c0001t0001g0071 a0001c0001t0001g0096 others(54): Show a0001c0001t0001g0027 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0252 a0001c0001t0003g0031 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0141 a0001c0001t0004g0018 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0013 a0001c0001t0008g0016 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0012g0012 a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0013g0109 a0001c0001t0013g0145 a0001c0001t0013g0146 a0001c0001t0030g0033 a0001c0001t0032g0006 a0001c0001t0033g0007 a0001c0001t0034g0032 a0001c0001t0036g0034 a0001c0001t0037g0019 a0001c0001t0038g0037 a0001c0001t0039g0107 a0001c0001t0040g0142 a0001c0001t0043g0108 a0001c0001t0049g0122 a0001c0001t0055g0057 a0001c0001t0056g0061 a0001c0006t0003g0105 a0005c0009t0001g0110 a0007c0008t0004g0035	57	151	0.3775	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTCA others(42): Show AGGGCTCATCCCCCCACCTCCCTCCCGGACGTGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0024 a0002c0003t0027g0024	1	95	0.0105	49	c.139 others(68): Show c.139-18432_139-18431insCATCCCCCCACCTCCCTCCCGGACGT GGCGGCTGGCCAGGCGGGGGGCT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75481798	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	314	0.0032	49	c.106 others(68): Show c.1063-1885_1063-1884insGGGGGGCTGACCTCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	89	0.0112	49	c.64- others(66): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	3018858	T T	TCCCCCCA others(42): Show TCCCCCCACCTCCCTCCCGGATGGCGCGGCTGGCCGGGGTGGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0173 a0001c0004t0004g0173	1	72	0.0139	49	c.104 others(66): Show c.1041+965_1041+966insTGGCGCGGCTGGCCGGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRK_chr6_127963785_128525599	128445206	A A	ATATATAT others(42): Show ATATATATATATATAATTTATATATAATAGTATAAATACTATATATAATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG03209.hp2 HG02559.hp1 HG02647.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0002 a0001c0005t0003 a0001c0001t0001 a0001c0003t0002 a0001c0005t0003	a0001c0001t0001g0030 a0001c0003t0002g0032 a0001c0005t0003g0036 a0001c0001t0001g0030 a0001c0003t0002g0032 a0001c0005t0003g0036	3	52	0.0577	49	c.101 others(68): Show c.101-47567_101-47519dupAATTATATATAGTATTTATACTATTA TATATAAATTATATATATATATA	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29			chr6	TogoVar
PTPRT_chr20_42067756_43194906	42633972	A A	AATATATA others(42): Show AATATATATATAATATTATATATAATATATTATAATATATATATAATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 NA19240.hp2 HG02886.hp1 HG03540.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0001 a0001c0003t0029 a0004c0006t0008 a0001c0003t0001 a0001c0003t0029 a0004c0006t0008	a0001c0003t0001g0038 a0001c0003t0029g0048 a0004c0006t0008g0054 a0001c0003t0001g0038 a0001c0003t0029g0048 a0004c0006t0008g0054	3	59	0.0508	49	c.115 others(70): Show c.1153+43893_1153+43894insAATATTATATATATATTATAATAT ATTATATATAATATTATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PXDNL_chr8_51314577_51814445	51534763	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02818.hp2 others(4): Show HG02559.hp2 HG02615.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp2	a0004 a0007 a0026 others(1): Show a0004 a0007 a0026 a0030	a0004c0041 a0007c0006 a0026c0019 others(1): Show a0004c0041 a0007c0006 a0026c0019 a0030c0042	a0004c0041t0001 a0007c0006t0001 a0026c0019t0001 others(1): Show a0004c0041t0001 a0007c0006t0001 a0026c0019t0001 a0030c0042t0001	a0004c0041t0001g0057 a0007c0006t0001g0042 a0007c0006t0001g0043 others(4): Show a0004c0041t0001g0057 a0007c0006t0001g0042 a0007c0006t0001g0043 a0007c0006t0001g0045 a0007c0006t0001g0046 a0026c0019t0001g0090 a0030c0042t0001g0044	7	93	0.0753	49	c.380 others(68): Show c.380+22076_380+22077insTGGGGGGCTGATCCCCCCACCTCCCT CCCGGACTGGGCGGCTGGCCGGG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51534766	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0080 a0003c0003t0001g0080	1	120	0.0083	49	c.380 others(68): Show c.380+22073_380+22074insAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51534815	C C	TGGCCAGC others(42): Show TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18966.hp1 NA18947.hp2 NA18966.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0028 a0003c0003 a0005c0028	a0003c0003t0001 a0005c0028t0001 a0003c0003t0001 a0005c0028t0001	a0003c0003t0001g0081 a0005c0028t0001g0083 a0003c0003t0001g0081 a0005c0028t0001g0083	2	120	0.0167	49	c.380 others(68): Show c.380+22025_380+22026insGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1635000	T T	TGGGACAG others(42): Show TGGGACAGGGCCAGTGGTGGGCAGGTCAGTGTTTACCCACCAGCTCTGCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0014 a0001c0006 a0001c0014	a0001c0006t0013 a0001c0014t0013 a0001c0006t0013 a0001c0014t0013	a0001c0006t0013g0310 a0001c0014t0013g0145 a0001c0014t0013g0246 a0001c0006t0013g0310 a0001c0014t0013g0145 a0001c0014t0013g0246	3	319	0.0094	49	c.432 others(66): Show c.4320+359_4320+407dupTGCAGAGCTGGTGGGTAAACACTGACCT GCCCACCACTGGCCCTGTCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	22/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710746	A A	ACTCTCCA others(42): Show ACTCTCCACCAGCACCCGCTCTACCAGCACCCACTCTATGAACACCCACT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0104 a0001c0002t0003g0104	1	308	0.0032	49	c.201 others(68): Show c.201-17613_201-17612insAGTGGGTGTTCATAGAGTGGGTGCTG GTAGAGCGGGTGCTGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710855	A A	ACTCTCCA others(42): Show ACTCTCCACCAGCACCCACTCTATGAACACCCGCTCCACCAGTACCCACT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0020 a0006c0025t0020	a0006c0025t0020g0172 a0006c0025t0020g0172	1	234	0.0043	49	c.201 others(68): Show c.201-17722_201-17721insAGTGGGTACTGGTGGAGCGGGTGTTC ATAGAGTGGGTGCTGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710943	A A	ACACCCGC others(42): Show ACACCCGCTCCACCAGTACCCACTCTCCACCAGCACCCGCTCTCCACCAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02135.hp1 others(7): Show HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG03492.hp2 HG04184.hp1 NA18997.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0045	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0004t0004 a0001c0045t0002	a0001c0001t0001g0070 a0001c0001t0001g0162 a0001c0001t0001g0214 others(7): Show a0001c0001t0001g0070 a0001c0001t0001g0162 a0001c0001t0001g0214 a0001c0001t0002g0030 a0001c0001t0002g0271 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0159 a0001c0004t0004g0245 a0001c0045t0002g0119	10	275	0.0364	49	c.201 others(68): Show c.201-17810_201-17809insCTGGTGGAGAGCGGGTGCTGGTGGAG AGTGGGTACTGGTGGAGCGGGTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1719898	C C	CAGAGAGA others(42): Show CAGAGAGAGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATGTAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01243.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0016 a0001c0026 a0001c0033 a0001c0040 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0003t0002 a0001c0003t0012 a0001c0008t0002 a0001c0016t0005 a0001c0026t0001 a0001c0033t0001 a0001c0040t0030 a0012c0021t0002	a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0181 others(53): Show a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0174 a0001c0001t0002g0191 a0001c0001t0002g0200 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0009g0180 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0003g0097 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0296 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0317 a0001c0003t0012g0255 a0001c0008t0002g0298 a0001c0016t0005g0001 a0001c0026t0001g0261 a0001c0033t0001g0216 a0001c0040t0030g0088 a0012c0021t0002g0251	56	313	0.1789	49	c.200 others(68): Show c.200+24357_200+24358insCTCTACATCCCTCCCCTCCCTCTCTC TCTGCATCCCTCCCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132693994	C C	CCAGTTAG others(42): Show CCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG01071.hp1 others(6): Show HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG03490.hp1 HG03492.hp2 NA18977.hp1 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0003 a0001c0003t0008	a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 others(6): Show a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0159 a0001c0003t0008g0145	9	348	0.0259	49	c.237 others(66): Show c.237-1868_237-1867insGCCAGTTAGTTAGTGAGCTCCCTTAGTC AGTTAGTTAGTGAGCTCCCTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYM1_chr12_55896413_55932894	55905889	T T	TTATATAT others(42): Show TTATATATATCTATTAGATATATATATTATATATATCTATTAGATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	340	0.0029	49	c.38- others(64): Show c.38-2410_38-2409insTATATATCTAATAGATATATATAATATATA TATCTAATAGATATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(42): Show CATATATATAACATATATATATAACATATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02647.hp2 HG00597.hp1 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0206 a0003c0004t0002g0111 a0001c0001t0001g0206 a0003c0004t0002g0111	2	189	0.0106	49	c.120 others(66): Show c.120+2389_120+2390insACATATATATATAACATATATATATAAC ATATATATATATATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB1A_chr2_65081854_65135106	65105511	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	159	0.0063	49	c.24- others(62): Show c.24-706_24-705insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB20_chr13_110518066_110566722	110530435	G G	GCCCCGGG others(42): Show GCCCCGGGGAGGCAGGTCCCACCCGCCCCCACCTCTACACAGACACAGGA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0059 a0001c0002t0002g0059	1	379	0.0026	49	c.173 others(66): Show c.173-6239_173-6238insTCCTGTGTCTGTGTAGAGGTGGGGGCGG GTGGGACCTGCCTCCCCGGGG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	3	0.3333	49	c.53+ others(62): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABGAP1L_chr1_174154520_175000308	174349403	G G	GGGGGCTG others(42): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18982.hp2 NA18962.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0039 a0001c0001t0001g0042	2	272	0.0074	49	c.146 others(70): Show c.1466-21545_1466-21544insGGGCGGCTGGCCAGGCGTGGGGCT GACCCCCCCACCTCCCTCCCGGACG	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03710.hp2 HG04199.hp1 others(3): Show HG00673.hp1 HG03710.hp2 HG04199.hp1 NA18957.hp2 NA19009.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0035 a0003c0004t0001 a0001c0001t0001 a0001c0001t0035 a0003c0004t0001	a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0053 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0035g0070 a0003c0004t0001g0051	6	100	0.0600	49	c.234 others(70): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATATATATATATATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATACATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0026 a0026	a0026c0052 a0026c0052	a0026c0052t0039 a0026c0052t0039	a0026c0052t0039g0011 a0026c0052t0039g0011	1	234	0.0043	49	c.-27 others(60): Show c.-2770_-2769insAAATATATATATATATGTATATATATATATATAT ATATATATATATATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(42): Show TATATATATATATATATATATACATATATACATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0030 a0003c0025t0030	a0003c0025t0030g0012 a0003c0025t0030g0012	1	184	0.0054	49	c.-27 others(60): Show c.-2771_-2770insTATATATATATATATATATGTATATATGTATATA TATATATATATATAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGAC others(42): Show CGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	209	0.0048	49	c.-57 others(58): Show c.-573_-572insGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGG GGGACGGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		397		chr20	TogoVar
RAPGEF4_chr2_172730845_173057893	173056623	T T	TGGGGTGG others(42): Show TGGGGTGGGGTAGTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	176	0.0057	49	c.48 others(60): Show c.4856_*4857insGGGGTGGGGTAGTTGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGG	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding		3731		chr2	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	136	0.0074	49	c.101 others(66): Show c.1017+444_1017+445insTATATATATATATATATATATATATATA TATATATATATATATATTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar

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