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
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(10): Show TCCCCGCCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp1 others(175): Show HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0003c0006 a0004c0012 a0007c0010 a0008c0013 a0009c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005 a0001c0007t0001 a0002c0003t0001 a0003c0006t0001 a0004c0012t0001 a0007c0010t0001 a0008c0013t0001 a0009c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(173): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0355 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0367 a0001c0001t0001g0371 a0001c0001t0001g0388 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0007g0350 a0001c0001t0008g0130 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0028 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0143 a0001c0002t0001g0154 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0174 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0216 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0259 a0001c0002t0001g0272 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0287 a0001c0002t0001g0292 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0301 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0316 a0001c0002t0001g0322 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0345 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0365 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0002t0001g0387 a0001c0002t0001g0391 a0001c0002t0001g0396 a0001c0002t0005g0302 a0001c0007t0001g0118 a0002c0003t0001g0262 a0002c0003t0001g0264 a0002c0003t0001g0294 a0003c0006t0001g0002 a0004c0012t0001g0127 a0007c0010t0001g0086 a0008c0013t0001g0079 a0009c0008t0001g0210	178	400	0.4450	17	c.940 others(32): Show c.940-710_940-709insCCCCCCCACCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(10): Show TCCCCGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp1 HG01099.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0235 a0001c0001t0001g0243	2	400	0.0050	17	c.940 others(32): Show c.940-710_940-709insCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDHX_chr11_34911618_35001128	34980352	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03516.hp1 NA18522.hp1 HG03139.hp1 HG03516.hp1 NA18522.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0198 a0006c0011t0001g0200 a0006c0011t0001g0201 a0006c0011t0001g0198 a0006c0011t0001g0200 a0006c0011t0001g0201	3	314	0.0096	17	c.102 others(36): Show c.1023+2184_1023+2185insTTTTTTTTTTTTTTTTT	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDIA2_chr16_278164_292215	285835	A A	ATTCTCCC others(10): Show ATTCTCCCAACCCGGCGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0001 a0002c0036t0001	a0002c0036t0001g0070 a0002c0036t0001g0070	1	436	0.0023	17	c.111 others(34): Show c.1119+145_1119+161dupGGCGGTTCTCCCAACCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285931	C C	CCCCAACC others(10): Show CCCCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0164 a0008c0009t0001g0164	1	436	0.0023	17	c.111 others(34): Show c.1119+237_1119+238insGCGGTTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285937	C C	CCCCAACC others(10): Show CCCCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0060 a0006c0013t0001g0060	1	436	0.0023	17	c.111 others(34): Show c.1119+243_1119+244insGCGGTTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285943	C C	CCCCAACC others(10): Show CCCCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0024 a0024	a0024c0039 a0024c0039	a0024c0039t0002 a0024c0039t0002	a0024c0039t0002g0057 a0024c0039t0002g0057	1	436	0.0023	17	c.111 others(34): Show c.1119+249_1119+250insGCGGTTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285949	C C	CCCCAACC others(10): Show CCCCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01515.hp1 others(3): Show HG01109.hp1 HG01496.hp2 HG01515.hp1 HG03831.hp2 NA18998.hp2 NA19007.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0005c0015t0001 a0001c0001t0001 a0001c0001t0002 a0005c0015t0001	a0001c0001t0001g0023 a0001c0001t0002g0066 a0005c0015t0001g0023 others(1): Show a0001c0001t0001g0023 a0001c0001t0002g0066 a0005c0015t0001g0023 a0005c0015t0001g0043	6	436	0.0138	17	c.111 others(34): Show c.1119+290_1119+306dupGCGGTTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	289743	G G	GCCCGAGG others(10): Show GCCCGAGGCCCCACTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0162 a0008c0009t0001g0162	1	436	0.0023	17	c.26 others(28): Show c.2630_*2631insCCCGAGGCCCCACTGCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding		2529		chr16	TogoVar
PDIA2_chr16_278164_292215	289743	G G	GCCCGAGG others(10): Show GCCCGAGGCCCCGCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01934.hp2 NA18947.hp2 others(3): Show HG01361.hp2 HG01934.hp2 NA18947.hp2 NA18959.hp2 NA18987.hp2 NA19005.hp2	a0006 a0008 a0010 a0006 a0008 a0010	a0006c0024 a0008c0009 a0010c0018 a0006c0024 a0008c0009 a0010c0018	a0006c0024t0001 a0008c0009t0001 a0010c0018t0001 a0006c0024t0001 a0008c0009t0001 a0010c0018t0001	a0006c0024t0001g0111 a0008c0009t0001g0159 a0008c0009t0001g0164 others(2): Show a0006c0024t0001g0111 a0008c0009t0001g0159 a0008c0009t0001g0164 a0010c0018t0001g0020 a0010c0018t0001g0054	6	436	0.0138	17	c.26 others(28): Show c.2630_*2631insCCCGAGGCCCCGCTGCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding		2529		chr16	TogoVar
PDILT_chr16_20354175_20409737	20398274	T T	TGCTGATG others(10): Show TGCTGATGCAAAATGTCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0011 a0006c0010t0002g0011	1	406	0.0025	17	c.202 others(32): Show c.202+808_202+824dupGGACATTTTGCATCAGC	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	2/11			chr16	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00738.hp1 others(17): Show HG00323.hp1 HG00639.hp2 HG00738.hp1 HG01099.hp1 HG01257.hp1 HG01258.hp1 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02486.hp1 HG03834.hp2 NA18941.hp1 NA18966.hp1 NA18969.hp1 NA18972.hp2 NA18999.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0002 a0001c0001t0002g0061 a0001c0001t0002g0065 others(15): Show a0001c0001t0002g0002 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0003g0011 a0001c0001t0003g0040 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0078 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0007g0047	20	258	0.0775	17	c.248 others(34): Show c.248+1692_248+1708dupTTTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18985.hp1 HG02895.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0312 a0001c0001t0001g0202 a0001c0001t0001g0312	2	338	0.0059	17	c.533 others(34): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	338	0.0030	17	c.533 others(34): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTC	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM2_chr8_22575475_22599298	22592077	C C	CTTTTCTT others(10): Show CTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	380	0.0026	17	c.881 others(32): Show c.881+413_881+414insCTTTTCTTTTCTTTTTT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDLIM2_chr8_22575475_22599298	22592080	T T	TTCTTTTC others(10): Show TTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	380	0.0026	17	c.881 others(32): Show c.881+413_881+414insCTTTTCTTTTCTTTTCT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDLIM3_chr4_185495660_185540507	185497978	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02486.hp2 others(2): Show HG02055.hp2 HG02280.hp1 HG02486.hp2 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0108 a0001c0002t0001g0116 others(1): Show a0001c0002t0001g0029 a0001c0002t0001g0108 a0001c0002t0001g0116 a0001c0002t0001g0141	5	412	0.0121	17	c.43 others(28): Show c.4315_*4316insTTTTTTTTTTTTTTTTT	PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding		2681		chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94494432	G G	GGTTTTTT others(10): Show GGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp2 HG01258.hp1 HG01258.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0003c0004t0001 a0001c0001t0004 a0003c0004t0001	a0001c0001t0004g0039 a0003c0004t0001g0120 a0001c0001t0004g0039 a0003c0004t0001g0120	2	218	0.0092	17	c.97- others(34): Show c.97-29292_97-29291insGTTTTTTTTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12			chr4	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02615.hp1 HG02615.hp2 others(11): Show HG00323.hp2 HG02615.hp1 HG02615.hp2 HG02886.hp1 HG02922.hp1 HG03453.hp2 NA18747.hp2 NA18964.hp1 NA18964.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0041	a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0099 others(11): Show a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0008g0013 a0001c0001t0010g0026 a0001c0001t0011g0027 a0001c0001t0013g0046 a0001c0001t0015g0101 a0001c0001t0041g0032	14	184	0.0761	17	c.-46 others(28): Show c.-4683_-4682insTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDPK1_chr16_2533021_2608188	2534773	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA19043.hp1 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0003t0038 a0001c0001t0018 a0001c0003t0038	a0001c0001t0018g0179 a0001c0003t0038g0180 a0001c0001t0018g0179 a0001c0003t0038g0180	2	184	0.0109	17	c.-33 others(28): Show c.-3340_-3339insTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		3247		chr16	TogoVar
PDPN_chr1_13578832_13622957	13582083	T T	TAGACACA others(10): Show TAGACACATCCGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0377 a0001c0001t0008g0377	1	446	0.0022	17	c.-19 others(28): Show c.-1951_-1950insAGACACATCCGGGGGTG	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding		1748		chr1	TogoVar
PDPN_chr1_13578832_13622957	13599011	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03710.hp2 HG02155.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0187 a0001c0001t0008g0037 a0001c0001t0003g0187 a0001c0001t0008g0037	2	446	0.0045	17	c.68- others(32): Show c.68-8161_68-8145dupTTTTTTTTTTTTTTTTT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13601966	C C	CGGTGGCT others(10): Show CGGTGGCTCATGCCTTTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0402 a0001c0001t0002g0402	1	446	0.0022	17	c.68- others(32): Show c.68-5129_68-5113dupTGCCTTTGGGTGGCTCA	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13602046	C C	CCTTTGGG others(10): Show CCTTTGGGTGGCTCAGCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 HG03453.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0053 a0001c0001t0001 a0001c0002t0053	a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0002t0053g0308 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0002t0053g0308	3	446	0.0067	17	c.68- others(32): Show c.68-5106_68-5090dupTGGGTGGCTCAGCACTT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPR_chr16_70109332_70167537	70133421	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03098.hp1 HG01346.hp1 HG03098.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0049 a0006c0014t0045 a0001c0001t0049 a0006c0014t0045	a0001c0001t0049g0205 a0006c0014t0045g0222 a0001c0001t0049g0205 a0006c0014t0045g0222	2	289	0.0069	17	c.997 others(34): Show c.997+1134_997+1135insTTTTTTTTTTTTTTTTT	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDPR_chr16_70109332_70167537	70138207	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0086 a0002c0002t0013g0086	1	289	0.0035	17	c.119 others(34): Show c.1191-680_1191-664dupTTTTTTTTTTTTTTTTT	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5A_chr4_39817863_39982911	39831875	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19004.hp1 HG00099.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0327 a0001c0002t0004g0353 a0001c0002t0004g0327 a0001c0002t0004g0353	2	356	0.0056	17	c.401 others(36): Show c.4010+5964_4010+5980dupTTTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAGTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0127 a0001c0002t0003g0127	1	356	0.0028	17	c.139 others(34): Show c.139-2083_139-2082insAAAACTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAGTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0133 a0001c0002t0003g0133	1	356	0.0028	17	c.139 others(34): Show c.139-2083_139-2082insAAAAACTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(10): Show AAAAAAAAAAAGTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0163	1	356	0.0028	17	c.139 others(34): Show c.139-2083_139-2082insAAAAAACTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655370	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0039 a0001c0003t0004g0039	1	334	0.0030	17	c.313 others(34): Show c.313-2868_313-2867insTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0293 a0001c0001t0037g0293	1	334	0.0030	17	c.313 others(34): Show c.313-2864_313-2863insATATATATATATATTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02895.hp1 HG02132.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0023 a0001c0001t0017 a0001c0001t0023	a0001c0001t0017g0312 a0001c0001t0023g0299 a0001c0001t0017g0312 a0001c0001t0023g0299	2	334	0.0060	17	c.313 others(34): Show c.313-2864_313-2863insATATATATATATTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0310 a0001c0001t0008g0310	1	334	0.0030	17	c.313 others(34): Show c.313-2864_313-2863insATATATATATTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0206 a0007c0009t0002g0206	1	334	0.0030	17	c.313 others(34): Show c.313-2864_313-2863insATATATATATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02135.hp1 others(20): Show HG01192.hp2 HG01891.hp1 HG02135.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03139.hp1 HG03540.hp1 HG03688.hp2 NA18960.hp1 NA18970.hp2 NA19002.hp1 NA19065.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0209 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0352 a0001c0001t0003g0017 a0001c0001t0003g0289 a0001c0001t0004g0242 a0001c0001t0004g0243	23	416	0.0553	17	c.163 others(32): Show c.163-591_163-575dupAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107227278	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	260	0.0039	17	c.703 others(36): Show c.703-15013_703-14997dupAAAAAAAAAAAAAAAAA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02897.hp1 HG03540.hp2 HG02280.hp1 HG02897.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0013g0003 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0013g0003	3	260	0.0115	17	c.296 others(32): Show c.296+561_296+577dupTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDX1_chr13_27915000_27931313	27925364	T T	TCTCTCTT others(10): Show TCTCTCTTTCCCACTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0017 a0001c0001t0024g0017	1	434	0.0023	17	c.66 others(26): Show c.663_*664insCTCTCTTTCCCACTCTC	PDX1	ENSG00000139515.6	transcript	ENST00000381033.5	protein_coding	2/2	664		chr13	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0018 a0001c0011t0018	a0001c0011t0018g0106 a0001c0011t0018g0106	1	279	0.0036	17	c.21+ others(32): Show c.21+9276_21+9277insATATATTTTTTTTTTTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	15032668	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00738.hp2 others(44): Show HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02148.hp2 HG02647.hp1 HG02896.hp1 HG03453.hp1 HG03831.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18982.hp1 NA18990.hp1 NA18999.hp1 NA19012.hp1 NA19055.hp2 NA19064.hp2 NA19079.hp1 NA19086.hp1 NA20129.hp1 NA20905.hp1	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0002 a0002c0004 a0002c0007 others(2): Show a0002c0002 a0002c0004 a0002c0007 a0006c0008 a0010c0013	a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 others(7): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0017 a0002c0002t0019 a0002c0002t0020 a0002c0004t0005 a0002c0007t0001 a0006c0008t0001 a0010c0013t0008	a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0012 others(44): Show a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0102 a0002c0002t0008g0100 a0002c0002t0008g0101 a0002c0002t0008g0103 a0002c0002t0009g0013 a0002c0002t0009g0030 a0002c0002t0009g0083 a0002c0002t0009g0201 a0002c0002t0009g0263 a0002c0002t0017g0094 a0002c0002t0019g0045 a0002c0002t0020g0085 a0002c0004t0005g0071 a0002c0007t0001g0099 a0006c0008t0001g0082 a0010c0013t0008g0096	47	279	0.1685	17	c.157 others(34): Show c.1572-192_1572-191insAAAAAAAAAAAAAAAGA	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDZD2_chr5_31634131_32115932	31694792	T T	TTATTTTA others(10): Show TTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01952.hp2 HG01978.hp1 others(3): Show HG00735.hp1 HG01952.hp2 HG01978.hp1 HG03239.hp1 NA19005.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0005t0003 a0002c0003t0005 others(1): Show a0001c0001t0001 a0001c0005t0003 a0002c0003t0005 a0003c0004t0012	a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0005t0003g0014 a0002c0003t0005g0017 a0003c0004t0012g0013	6	216	0.0278	17	c.-36 others(38): Show c.-361+55355_-361+55356insTATTTTATTTTATTTTA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31816287	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG03209.hp2 others(1): Show HG01884.hp1 HG02258.hp1 HG03209.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0041 a0004c0006t0007	a0001c0001t0001g0045 a0001c0001t0008g0181 a0001c0001t0041g0210 others(1): Show a0001c0001t0001g0045 a0001c0001t0008g0181 a0001c0001t0041g0210 a0004c0006t0007g0202	4	216	0.0185	17	c.476 others(36): Show c.476+16578_476+16579insAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31856429	A A	AGAAAGGG others(10): Show AGAAAGGGAAAGTGATGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0039 a0001c0001 a0010c0039	a0001c0001t0010 a0010c0039t0030 a0001c0001t0010 a0010c0039t0030	a0001c0001t0010g0040 a0010c0039t0030g0216 a0001c0001t0010g0040 a0010c0039t0030g0216	2	216	0.0093	17	c.476 others(36): Show c.476+56707_476+56723dupAAAGGGAAAGTGATGGG	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG02080.hp2 others(5): Show HG00099.hp1 HG00621.hp2 HG02080.hp2 HG02135.hp2 HG02896.hp2 HG06807.hp2 NA18939.hp2 NA19011.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0027 a0032	a0001c0001 a0002c0003 a0002c0011 others(3): Show a0001c0001 a0002c0003 a0002c0011 a0003c0004 a0027c0047 a0032c0064	a0001c0001t0001 a0001c0001t0044 a0002c0003t0002 others(4): Show a0001c0001t0001 a0001c0001t0044 a0002c0003t0002 a0002c0011t0001 a0003c0004t0004 a0027c0047t0001 a0032c0064t0001	a0001c0001t0001g0138 a0001c0001t0001g0162 a0001c0001t0044g0006 others(5): Show a0001c0001t0001g0138 a0001c0001t0001g0162 a0001c0001t0044g0006 a0002c0003t0002g0164 a0002c0011t0001g0082 a0003c0004t0004g0122 a0027c0047t0001g0189 a0032c0064t0001g0191	8	216	0.0370	17	c.477 others(36): Show c.477-13636_477-13620dupAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CCAAAAAA others(10): Show CCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0030 a0030	a0030c0057 a0030c0057	a0030c0057t0001 a0030c0057t0001	a0030c0057t0001g0137 a0030c0057t0001g0137	1	216	0.0046	17	c.477 others(36): Show c.477-13646_477-13645insCAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	216	0.0046	17	c.140 others(38): Show c.1408-11628_1408-11612dupTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101010920	C C	CCCTCCCA others(10): Show CCCTCCCAGACTGGACCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01258.hp1 others(22): Show HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02970.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG04184.hp2 HG04228.hp1 NA20129.hp2 NA20905.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0026 a0004c0004 others(4): Show a0001c0001 a0001c0026 a0004c0004 a0004c0016 a0004c0020 a0004c0038 a0005c0005	a0001c0001t0004 a0001c0001t0006 a0001c0026t0001 others(11): Show a0001c0001t0004 a0001c0001t0006 a0001c0026t0001 a0004c0004t0001 a0004c0004t0004 a0004c0004t0006 a0004c0004t0010 a0004c0004t0011 a0004c0016t0001 a0004c0016t0024 a0004c0020t0006 a0004c0038t0011 a0005c0005t0001 a0005c0005t0022	a0001c0001t0004g0155 a0001c0001t0006g0196 a0001c0026t0001g0133 others(22): Show a0001c0001t0004g0155 a0001c0001t0006g0196 a0001c0026t0001g0133 a0004c0004t0001g0028 a0004c0004t0004g0030 a0004c0004t0006g0152 a0004c0004t0006g0276 a0004c0004t0010g0140 a0004c0004t0010g0141 a0004c0004t0010g0164 a0004c0004t0011g0096 a0004c0004t0011g0135 a0004c0016t0001g0181 a0004c0016t0024g0271 a0004c0020t0006g0018 a0004c0038t0011g0253 a0005c0005t0001g0176 a0005c0005t0001g0207 a0005c0005t0001g0219 a0005c0005t0001g0226 a0005c0005t0001g0228 a0005c0005t0001g0370 a0005c0005t0001g0376 a0005c0005t0001g0400 a0005c0005t0022g0274	25	432	0.0579	17	c.200 others(32): Show c.2006-38_2006-37insTGGTCCAGTCTGGGAGG	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	14/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017840	A A	AAGAAGAA others(10): Show AAGAAGAAAGAAAGAAAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0005 a0017c0040t0005	a0017c0040t0005g0347 a0017c0040t0005g0347	1	432	0.0023	17	c.152 others(34): Show c.1522+258_1522+259insATTTCTTTCTTTCTTCT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017854	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18951.hp1 NA18941.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0169 a0001c0001t0004g0127 a0001c0001t0001g0169 a0001c0001t0004g0127	2	432	0.0046	17	c.152 others(34): Show c.1522+228_1522+244dupCTTTCTTTCTTTCTTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar

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