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
PTPRD_chr9_8309246_10618002	8726589	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	34	0.0294	-21	c.64+ others(36): Show c.64+7170_64+7190delATATATATATATATATATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9486150	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0026 a0002c0005t0010g0026	1	34	0.0294	-21	c.-23 others(42): Show c.-237+88561_-237+88581delTTTTTTTTTTTTTTTTTTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	8/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9840761	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0017 a0001c0002t0009g0017	1	34	0.0294	-21	c.-36 others(42): Show c.-367-73931_-367-73911delTTTTTTTTTTTTTTTTTTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10125423	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02622.hp1 others(3): Show HG01109.hp2 HG02055.hp2 HG02622.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0005c0016	a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 a0001c0002t0009 a0001c0008t0021 a0005c0016t0020	a0001c0001t0001g0004 a0001c0001t0013g0022 a0001c0002t0003g0024 others(3): Show a0001c0001t0001g0004 a0001c0001t0013g0022 a0001c0002t0003g0024 a0001c0002t0009g0017 a0001c0008t0021g0002 a0005c0016t0020g0011	6	34	0.1765	-21	c.-54 others(42): Show c.-544-91654_-544-91634delTAATAATAATAATAATAATAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61672742	GAGAGGGA others(14): Show GAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	94	0.0106	-21	c.86- others(38): Show c.86-76119_86-76099delGGAGAAGAGGGAGAGGGAGAG	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61812277	ACCATTCA others(14): Show ACCATTCATTCATTCATTCATT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02145.hp2 HG02896.hp2 others(1): Show HG02027.hp1 HG02145.hp2 HG02896.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0002c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0006 a0002c0003t0001 a0002c0003t0008	a0001c0001t0003g0012 a0001c0001t0006g0036 a0002c0003t0001g0067 others(1): Show a0001c0001t0003g0012 a0001c0001t0006g0036 a0002c0003t0001g0067 a0002c0003t0008g0016	4	94	0.0426	-21	c.190 others(40): Show c.190+63297_190+63317delCATTCATTCATTCATTCATTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61866582	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03471.hp1 HG03540.hp1 others(1): Show HG02896.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0019 a0001c0001 a0001c0005 a0001c0019	a0001c0001t0002 a0001c0001t0016 a0001c0005t0009 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0005t0009 a0001c0019t0001	a0001c0001t0002g0035 a0001c0001t0016g0029 a0001c0005t0009g0022 others(1): Show a0001c0001t0002g0035 a0001c0001t0016g0029 a0001c0005t0009g0022 a0001c0019t0001g0069	4	94	0.0426	-21	c.190 others(42): Show c.190+117616_190+117636delTTTTTTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRH_chr19_55176247_55214501	55178753	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp2 others(5): Show HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG02280.hp2 HG02738.hp1 HG03017.hp2 HG03704.hp2	a0003 a0012 a0042 a0003 a0012 a0042	a0003c0003 a0012c0060 a0042c0074 a0003c0003 a0012c0060 a0042c0074	a0003c0003t0003 a0012c0060t0003 a0042c0074t0003 a0003c0003t0003 a0012c0060t0003 a0042c0074t0003	a0003c0003t0003g0024 a0003c0003t0003g0032 a0003c0003t0003g0155 others(4): Show a0003c0003t0003g0024 a0003c0003t0003g0032 a0003c0003t0003g0155 a0003c0003t0003g0159 a0003c0003t0003g0214 a0012c0060t0003g0115 a0042c0074t0003g0092	8	378	0.0212	-21	c.29 others(32): Show c.2980_*3000delAAAAAAAAAAAAAAAAAAAAA	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding		2493		chr19	TogoVar
PTPRJ_chr11_47975559_48175839	48066554	GTATTATT others(14): Show GTATTATTATTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0001 a0004 a0001 a0004	a0001c0029 a0004c0008 a0001c0029 a0004c0008	a0001c0029t0040 a0004c0008t0005 a0001c0029t0040 a0004c0008t0005	a0001c0029t0040g0020 a0004c0008t0005g0118 a0001c0029t0040g0020 a0004c0008t0005g0118	2	216	0.0093	-21	c.97- others(38): Show c.97-43475_97-43455delATTATTATTATTATTATTATT	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRK_chr6_127963785_128525599	128183563	ACTGAATG others(14): Show ACTGAATGGGTTTTGCTTGGAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02572.hp2 others(3): Show HG02145.hp2 HG02559.hp1 HG02572.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0007t0001 a0001c0009t0001 a0001c0001t0001 a0001c0007t0001 a0001c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0038 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0007t0001g0047 a0001c0009t0001g0015	6	53	0.1132	-21	c.116 others(38): Show c.1162+848_1162+868delATCCAAGCAAAACCCATTCAG	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	7/29			chr6	TogoVar
PTPRK_chr6_127963785_128525599	128504648	AGTAAGCA others(14): Show AGTAAGCAATCAGAGCACCTGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0045 a0001c0013t0002g0045	1	53	0.0189	-21	c.100 others(40): Show c.100+15590_100+15610delCCAGGTGCTCTGATTGCTTAC	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29			chr6	TogoVar
PTPRM_chr18_7562316_8411856	8237442	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	80	0.0125	-21	c.230 others(40): Show c.2301-6615_2301-6595delTTTTTTTTTTTTTTTTTTTTC	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32			chr18	TogoVar
PTPRQ_chr12_80439235_80685273	80515015	GCTTTAGT others(14): Show GCTTTAGTATCTTATTAACATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 HG01258.hp1 others(1): Show HG00741.hp1 HG01255.hp2 HG01258.hp1 HG03195.hp2	a0003 a0052 a0003 a0052	a0003c0014 a0052c0065 a0003c0014 a0052c0065	a0003c0014t0002 a0052c0065t0002 a0003c0014t0002 a0052c0065t0002	a0003c0014t0002g0121 a0003c0014t0002g0153 a0003c0014t0002g0154 others(1): Show a0003c0014t0002g0121 a0003c0014t0002g0153 a0003c0014t0002g0154 a0052c0065t0002g0115	4	178	0.0225	-21	c.267 others(40): Show c.2678+4580_2678+4600delATCTTATTAACATACTTTAGT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70663503	GGTGATAG others(14): Show GGTGATAGGTTTTTGGCCCAAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02735.hp1 HG03490.hp1 HG01361.hp1 HG02735.hp1 HG03490.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0083 a0006c0007t0001g0084 a0006c0007t0001g0090 a0006c0007t0001g0083 a0006c0007t0001g0084 a0006c0007t0001g0090	3	204	0.0147	-21	c.149 others(38): Show c.1498-919_1498-899delTTTGGGCCAAAAACCTATCAC	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	10/13			chr12	TogoVar
PTPRR_chr12_70633079_70925738	70665364	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	204	0.0049	-21	c.149 others(40): Show c.1498-2780_1498-2760delAAAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	10/13			chr12	TogoVar
PTPRS_chr19_5200508_5345812	5283258	AACCCCAG others(14): Show AACCCCAGCACTTTCTCCTGTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(123): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0011 a0016 a0018	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0034 a0001c0035 a0001c0046 a0001c0047 a0001c0055 a0001c0056 a0001c0059 a0001c0062 a0001c0066 a0001c0067 a0001c0069 a0001c0075 a0002c0043 a0003c0058 a0006c0041 a0008c0036 a0011c0057 a0016c0032 a0018c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0015 a0001c0002t0017 a0001c0003t0004 a0001c0003t0042 a0001c0003t0043 a0001c0005t0003 a0001c0005t0023 a0001c0006t0001 a0001c0006t0007 a0001c0006t0011 a0001c0006t0020 a0001c0007t0001 a0001c0007t0006 a0001c0008t0006 a0001c0008t0039 a0001c0009t0005 a0001c0010t0007 a0001c0010t0020 a0001c0011t0005 a0001c0011t0010 a0001c0011t0028 a0001c0011t0034 a0001c0013t0026 a0001c0013t0038 a0001c0013t0040 a0001c0015t0021 a0001c0015t0027 a0001c0016t0016 a0001c0017t0012 a0001c0018t0001 a0001c0019t0011 a0001c0028t0019 a0001c0029t0007 a0001c0030t0007 a0001c0031t0003 a0001c0034t0007 a0001c0035t0044 a0001c0046t0012 a0001c0047t0029 a0001c0055t0014 a0001c0056t0003 a0001c0059t0001 a0001c0062t0008 a0001c0066t0001 a0001c0067t0012 a0001c0069t0001 a0001c0075t0018 a0002c0043t0025 a0003c0058t0001 a0006c0041t0001 a0008c0036t0002 a0011c0057t0002 a0016c0032t0002 a0018c0060t0004	a0001c0001t0001g0012 a0001c0001t0001g0115 a0001c0001t0001g0134 others(123): Show a0001c0001t0001g0012 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0192 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0003 a0001c0001t0002g0086 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0132 a0001c0001t0002g0160 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0002g0271 a0001c0001t0003g0074 a0001c0001t0008g0170 a0001c0001t0008g0175 a0001c0001t0018g0174 a0001c0001t0023g0276 a0001c0001t0025g0184 a0001c0001t0045g0242 a0001c0001t0046g0257 a0001c0001t0047g0161 a0001c0002t0003g0112 a0001c0002t0003g0193 a0001c0002t0003g0236 a0001c0002t0006g0238 a0001c0002t0009g0119 a0001c0002t0009g0210 a0001c0002t0009g0264 a0001c0002t0013g0075 a0001c0002t0015g0221 a0001c0002t0015g0272 a0001c0002t0015g0273 a0001c0002t0017g0168 a0001c0003t0004g0079 a0001c0003t0004g0085 a0001c0003t0004g0167 a0001c0003t0004g0207 a0001c0003t0004g0259 a0001c0003t0042g0051 a0001c0003t0043g0263 a0001c0005t0003g0146 a0001c0005t0023g0213 a0001c0006t0001g0018 a0001c0006t0007g0014 a0001c0006t0007g0142 a0001c0006t0011g0071 a0001c0006t0011g0217 a0001c0006t0020g0216 a0001c0007t0001g0077 a0001c0007t0001g0101 a0001c0007t0001g0266 a0001c0007t0006g0004 a0001c0007t0006g0082 a0001c0007t0006g0114 a0001c0008t0006g0187 a0001c0008t0006g0237 a0001c0008t0039g0067 a0001c0009t0005g0127 a0001c0010t0007g0039 a0001c0010t0007g0041 a0001c0010t0020g0159 a0001c0011t0005g0035 a0001c0011t0010g0059 a0001c0011t0028g0118 a0001c0011t0034g0020 a0001c0013t0026g0072 a0001c0013t0038g0083 a0001c0013t0040g0087 a0001c0015t0021g0025 a0001c0015t0021g0026 a0001c0015t0027g0032 a0001c0016t0016g0031 a0001c0016t0016g0036 a0001c0016t0016g0040 a0001c0017t0012g0145 a0001c0018t0001g0224 a0001c0018t0001g0231 a0001c0019t0011g0017 a0001c0019t0011g0044 a0001c0028t0019g0052 a0001c0029t0007g0109 a0001c0030t0007g0001 a0001c0031t0003g0111 a0001c0034t0007g0069 a0001c0035t0044g0045 a0001c0046t0012g0141 a0001c0047t0029g0021 a0001c0055t0014g0056 a0001c0056t0003g0016 a0001c0059t0001g0212 a0001c0062t0008g0136 a0001c0066t0001g0248 a0001c0067t0012g0015 a0001c0069t0001g0197 a0001c0075t0018g0037 a0002c0043t0025g0183 a0003c0058t0001g0235 a0006c0041t0001g0265 a0008c0036t0002g0246 a0011c0057t0002g0230 a0016c0032t0002g0258 a0018c0060t0004g0201	126	276	0.4565	-21	c.91+ others(36): Show c.91+2771_91+2791delGACAGGAGAAAGTGCTGGGGT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	2/37			chr19	TogoVar
PTPRT_chr20_42067756_43194906	42686457	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01257.hp1 others(9): Show HG00140.hp1 HG00140.hp2 HG01257.hp1 HG01496.hp1 HG02155.hp2 HG02280.hp2 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp1 HG03540.hp2 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0007 a0001c0031 others(3): Show a0001c0002 a0001c0007 a0001c0031 a0002c0001 a0002c0009 a0004c0006	a0001c0002t0002 a0001c0002t0014 a0001c0002t0023 others(8): Show a0001c0002t0002 a0001c0002t0014 a0001c0002t0023 a0001c0007t0004 a0001c0031t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0010 a0002c0001t0019 a0002c0009t0001 a0004c0006t0008	a0001c0002t0002g0031 a0001c0002t0014g0052 a0001c0002t0023g0044 others(9): Show a0001c0002t0002g0031 a0001c0002t0014g0052 a0001c0002t0023g0044 a0001c0007t0004g0062 a0001c0031t0001g0056 a0002c0001t0002g0011 a0002c0001t0002g0025 a0002c0001t0003g0008 a0002c0001t0010g0024 a0002c0001t0019g0023 a0002c0009t0001g0018 a0004c0006t0008g0054	12	62	0.1936	-21	c.860 others(38): Show c.860-8319_860-8299delAAAAAAAAAAAAAAAAAAAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	6/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	121909360	TCAGTCCA others(14): Show TCAGTCCAACTGGAACGAGTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG03130.hp2 HG00639.hp2 HG02109.hp1 HG03130.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0030 a0001c0001 a0011c0030	a0001c0001t0002 a0011c0030t0002 a0001c0001t0002 a0011c0030t0002	a0001c0001t0002g0090 a0001c0001t0002g0092 a0011c0030t0002g0091 a0001c0001t0002g0090 a0001c0001t0002g0092 a0011c0030t0002g0091	3	312	0.0096	-21	c.59- others(38): Show c.59-18781_59-18761delCGAGTTCCAGTCCAACTGGAA	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PUM2_chr2_20243737_20355844	20336764	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	358	0.0028	-21	c.-18 others(38): Show c.-18-9407_-18-9387delACACACACACACACACACACA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	1/20			chr2	TogoVar
PWWP3A_chr19_1349959_1383429	1376291	GTTTGTTT others(14): Show GTTTGTTTTTTTTTTTGTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02572.hp1 others(4): Show HG02109.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02818.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0029 a0001c0005t0009 a0001c0005t0029	a0001c0005t0009g0031 a0001c0005t0009g0241 a0001c0005t0009g0243 others(4): Show a0001c0005t0009g0031 a0001c0005t0009g0241 a0001c0005t0009g0243 a0001c0005t0009g0247 a0001c0005t0009g0248 a0001c0005t0009g0249 a0001c0005t0029g0031	7	412	0.0170	-21	c.207 others(38): Show c.2076-224_2076-204delGTTTTTTTTTTTGTTTGTTTT	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PXDNL_chr8_51314577_51814445	51486771	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0035 a0035	a0035c0030 a0035c0030	a0035c0030t0001 a0035c0030t0001	a0035c0030t0001g0055 a0035c0030t0001g0055	1	122	0.0082	-21	c.453 others(38): Show c.453-3078_453-3058delTATATATATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	5/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577914	AAAAGAAA others(14): Show AAAAGAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0058 a0011c0012t0001g0058	1	122	0.0082	-21	c.308 others(40): Show c.308+14692_308+14712delCTTTCTTTCTTTTCTTTCTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1655680	GGAAACCT others(14): Show GGAAACCTGCCCCCTCCTGACT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	322	0.0031	-21	c.183 others(40): Show c.1838-1193_1838-1173delAGTCAGGAGGGGGCAGGTTTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1656513	CCTGCCCT others(14): Show CCTGCCCTCTCCTGACAGAAAG	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0127 a0006c0017t0001g0127	1	322	0.0031	-21	c.183 others(40): Show c.1838-2026_1838-2006delCTTTCTGTCAGGAGAGGGCAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1656913	GAACCTGT others(14): Show GAACCTGTCCCCTCCTGACAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG03209.hp1 HG02109.hp2 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0022 a0001c0029 a0001c0006 a0001c0022 a0001c0029	a0001c0006t0004 a0001c0022t0014 a0001c0029t0001 a0001c0006t0004 a0001c0022t0014 a0001c0029t0001	a0001c0006t0004g0285 a0001c0022t0014g0047 a0001c0029t0001g0150 a0001c0006t0004g0285 a0001c0022t0014g0047 a0001c0029t0001g0150	3	322	0.0093	-21	c.183 others(40): Show c.1838-2426_1838-2406delTCTGTCAGGAGGGGACAGGTT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1703017	ACAGCTCC others(14): Show ACAGCTCCAGGTGAAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	322	0.0031	-21	c.201 others(38): Show c.201-9904_201-9884delCCCCCCCTTCACCTGGAGCTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1703079	GCAACTCC others(14): Show GCAACTCCAGGTGAAGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03486.hp1 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0012 a0001c0003t0002 a0001c0003t0012	a0001c0003t0002g0124 a0001c0003t0012g0123 a0001c0003t0002g0124 a0001c0003t0012g0123	2	322	0.0062	-21	c.201 others(38): Show c.201-9966_201-9946delTCCCCCCTTCACCTGGAGTTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1703590	GGGGCAAC others(14): Show GGGGCAACTCCAGGTGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(92): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0022 a0001c0027 a0001c0031 a0001c0033 a0001c0034 a0001c0042 a0001c0046 a0002c0009 a0003c0018 a0004c0040 a0005c0037 a0007c0050 a0008c0025 a0012c0045 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0002t0023 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0004t0004 a0001c0005t0007 a0001c0006t0008 a0001c0010t0008 a0001c0013t0002 a0001c0022t0014 a0001c0027t0001 a0001c0031t0001 a0001c0033t0028 a0001c0034t0001 a0001c0042t0030 a0001c0046t0025 a0002c0009t0011 a0003c0018t0005 a0004c0040t0001 a0005c0037t0003 a0007c0050t0002 a0008c0025t0020 a0012c0045t0006 a0014c0021t0002	a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0138 others(92): Show a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0298 a0001c0001t0001g0312 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0212 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0248 a0001c0001t0002g0287 a0001c0001t0003g0179 a0001c0001t0005g0174 a0001c0001t0009g0177 a0001c0001t0015g0037 a0001c0001t0015g0315 a0001c0001t0019g0241 a0001c0001t0031g0214 a0001c0001t0033g0184 a0001c0002t0003g0026 a0001c0002t0003g0051 a0001c0002t0003g0097 a0001c0002t0003g0112 a0001c0002t0003g0168 a0001c0002t0003g0182 a0001c0002t0003g0186 a0001c0002t0003g0196 a0001c0002t0003g0216 a0001c0002t0003g0313 a0001c0002t0023g0063 a0001c0002t0032g0288 a0001c0003t0001g0282 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0316 a0001c0003t0008g0304 a0001c0003t0012g0254 a0001c0004t0004g0029 a0001c0004t0004g0163 a0001c0004t0004g0305 a0001c0004t0004g0310 a0001c0005t0007g0160 a0001c0006t0008g0314 a0001c0010t0008g0308 a0001c0013t0002g0306 a0001c0022t0014g0047 a0001c0027t0001g0260 a0001c0031t0001g0307 a0001c0033t0028g0046 a0001c0034t0001g0215 a0001c0042t0030g0088 a0001c0046t0025g0209 a0002c0009t0011g0300 a0003c0018t0005g0048 a0004c0040t0001g0262 a0005c0037t0003g0036 a0007c0050t0002g0321 a0008c0025t0020g0171 a0012c0045t0006g0062 a0014c0021t0002g0250	95	322	0.2950	-21	c.201 others(40): Show c.201-10477_201-10457delTCCCTTCACCTGGAGTTGCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132693392	CCAGTTAG others(14): Show CCAGTTAGTGAGCTCCCTTAGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0005 a0001c0004t0004 a0001c0004t0005	a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0078 others(2): Show a0001c0004t0004g0027 a0001c0004t0004g0028 a0001c0004t0004g0078 a0001c0004t0004g0079 a0001c0004t0005g0010	9	350	0.0257	-21	c.237 others(38): Show c.237-2491_237-2471delCAGTTAGTGAGCTCCCTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
PXMP2_chr12_132682587_132709985	132693954	TAGTTAGT others(14): Show TAGTTAGTGAGCTCCCTTAGCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	350	0.0029	-21	c.237 others(38): Show c.237-1912_237-1892delAGCCAGTTAGTGAGCTCCCTT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694748	CTCCCTTA others(14): Show CTCCCTTAGTCAGTTAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	350	0.0029	-21	c.237 others(38): Show c.237-1135_237-1115delTCCCTTAGTCAGTTAGTGAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
PYGO1_chr15_55533884_55593345	55548707	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(46): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0001t0019 a0001c0001t0044 others(4): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0044 a0001c0001t0045 a0001c0001t0064 a0001c0001t0083 a0001c0008t0004	a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0010 others(42): Show a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0193 a0001c0001t0004g0219 a0001c0001t0004g0313 a0001c0001t0004g0315 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0324 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0355 a0001c0001t0004g0371 a0001c0001t0019g0358 a0001c0001t0019g0359 a0001c0001t0019g0369 a0001c0001t0044g0372 a0001c0001t0045g0318 a0001c0001t0064g0180 a0001c0001t0083g0399 a0001c0008t0004g0323	49	412	0.1189	-21	c.135 others(36): Show c.135+182_135+202delTTTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	2/2			chr15	TogoVar
PYURF_chr4_88515998_88528776	88516483	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	-21	c.53 others(32): Show c.5384_*5404delTTTTTTTTTTTTTTTTTTTTT	PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding		4514		chr4	TogoVar
R3HCC1L_chr10_98129657_98249897	98167686	GGGACTTT others(14): Show GGGACTTTGAAATCCAATCCAC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0337 a0001c0001t0002g0337	1	388	0.0026	-21	c.-15 others(38): Show c.-15+4304_-15+4324delAATCCACGGACTTTGAAATCC	R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
R3HCC1_chr8_23283108_23301279	23291184	CCGTAAAA others(14): Show CCGTAAAACCCATGCGTCTTGA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	472	0.0021	-21	c.853 others(36): Show c.853-173_853-153delAAAACCCATGCGTCTTGACGT	R3HCC1	ENSG00000104679.12	transcript	ENST00000265806.12	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
R3HDM4_chr19_891503_918219	892874	AGCCCCGA others(14): Show AGCCCCGAGCCCCGCGCCCCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG04228.hp1 others(1): Show HG01884.hp2 HG02717.hp1 HG04228.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0086 a0001c0001t0002g0091 a0001c0001t0002g0176 others(1): Show a0001c0001t0001g0086 a0001c0001t0002g0091 a0001c0001t0002g0176 a0002c0002t0003g0044	4	432	0.0093	-21	c.45 others(32): Show c.4542_*4562delGCGGGGCGCGGGGCTCGGGGC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		3628		chr19	TogoVar
R3HDM4_chr19_891503_918219	892881	AGCCCCGC others(14): Show AGCCCCGCGCCCCGCGCCCCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00621.hp2 others(104): Show HG00140.hp1 HG00280.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp2 NA18952.hp1 NA18955.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA18997.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0006t0001 a0003c0006t0009	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 others(98): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0094 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0359 a0001c0001t0001g0387 a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0260 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0071 a0001c0001t0003g0152 a0001c0001t0003g0210 a0001c0001t0003g0240 a0001c0001t0003g0259 a0001c0001t0003g0267 a0001c0001t0003g0309 a0001c0001t0003g0316 a0001c0001t0003g0343 a0001c0001t0003g0370 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0088 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0212 a0001c0001t0004g0239 a0001c0001t0004g0283 a0001c0001t0004g0312 a0001c0001t0005g0053 a0001c0001t0006g0336 a0001c0001t0006g0375 a0001c0001t0014g0208 a0001c0003t0003g0010 a0001c0003t0003g0373 a0001c0003t0005g0012 a0001c0003t0005g0280 a0001c0004t0001g0092 a0001c0004t0001g0179 a0002c0002t0001g0072 a0002c0002t0001g0222 a0002c0002t0001g0257 a0002c0002t0001g0276 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0379 a0002c0002t0002g0029 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0003g0045 a0002c0002t0003g0299 a0003c0006t0001g0388 a0003c0006t0009g0032	107	432	0.2477	-21	c.45 others(32): Show c.4535_*4555delGCGGGGCGCGGGGCGCGGGGC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		3621		chr19	TogoVar
RAB11FIP1_chr8_37853618_37904497	37873811	TGTAACAC others(14): Show TGTAACACAAAGCAACAGGCAC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0037 a0037	a0037c0042 a0037c0042	a0037c0042t0001 a0037c0042t0001	a0037c0042t0001g0095 a0037c0042t0001g0095	1	264	0.0038	-21	c.162 others(38): Show c.1623-653_1623-633delGTGCCTGTTGCTTTGTGTTAC	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	3/5			chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895239	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04204.hp1 HG04184.hp2 HG04204.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0019 a0004c0003t0001 a0001c0001t0019 a0004c0003t0001	a0001c0001t0019g0101 a0004c0003t0001g0100 a0001c0001t0019g0101 a0004c0003t0001g0100	2	264	0.0076	-21	c.371 others(38): Show c.371+3811_371+3831delATATATATATATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895241	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02523.hp2 HG02135.hp1 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0125 a0002c0002t0001g0126	2	264	0.0076	-21	c.371 others(38): Show c.371+3809_371+3829delAAATATATATATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB12_chr18_8604437_8644383	8639147	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0153 a0001c0001t0056g0153	1	404	0.0025	-21	c.91 others(30): Show c.910_*930delTTTTTTTTTTTTTTTTTTTTT	RAB12	ENSG00000206418.5	transcript	ENST00000649141.2	protein_coding	6/6	910	INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB15_chr14_64940816_64977336	64953969	ATGGGAGA others(14): Show ATGGGAGACATCTTCCCTTATC	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	382	0.0026	-21	c.125 others(38): Show c.125-1419_125-1399delGATAAGGGAAGATGTCTCCCA	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding	1/6			chr14	TogoVar
RAB21_chr12_71749863_71805286	71785877	ATGTTTTT others(14): Show ATGTTTTTTTTTGTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02080.hp1 HG02132.hp2 others(4): Show HG02056.hp1 HG02080.hp1 HG02132.hp2 NA18971.hp2 NA19064.hp2 NA19066.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0067 others(2): Show a0001c0001t0034 a0001c0001t0035 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069	a0001c0001t0034g0180 a0001c0001t0034g0181 a0001c0001t0035g0026 others(4): Show a0001c0001t0034g0180 a0001c0001t0034g0181 a0001c0001t0035g0026 a0001c0001t0035g0179 a0001c0001t0067g0182 a0001c0001t0068g0012 a0001c0001t0069g0199	7	380	0.0184	-21	c.22 others(30): Show c.226_*246delTGTTTTTTTTTGTTTTTTTTT	RAB21	ENSG00000080371.6	transcript	ENST00000261263.5	protein_coding	7/7	226	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB25_chr1_156056160_156075504	156073554	CAATGCTA others(14): Show CAATGCTACTAAACTTTAAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	350	0.0029	-21	c.32 others(32): Show c.3268_*3288delAATGCTACTAAACTTTAAGCT	RAB25	ENSG00000132698.15	transcript	ENST00000361084.10	protein_coding		3051		chr1	TogoVar
RAB26_chr16_2143625_2159165	2144874	TGCCGGCC others(14): Show TGCCGGCCCCCGCCTTGCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01069.hp1 others(53): Show HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01243.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA18953.hp1 NA18973.hp2 NA18990.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0003g0035 a0001c0001t0003g0045 a0001c0001t0006g0016 a0001c0001t0006g0042 a0001c0001t0011g0003 a0001c0001t0013g0040	56	384	0.1458	-21	c.-39 others(32): Show c.-3909_-3889delGCCGGCCCCCGCCTTGCCCTC	RAB26	ENSG00000167964.13	transcript	ENST00000210187.11	protein_coding		3750		chr16	TogoVar
RAB26_chr16_2143625_2159165	2153744	CCACGCAC others(14): Show CCACGCACAGTGCCTAACCCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01934.hp2 HG02004.hp2 HG01074.hp1 HG01934.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0001 a0002c0002t0007g0001	3	384	0.0078	-21	c.32 others(30): Show c.324_*344delCACGCACAGTGCCTAACCCTA	RAB26	ENSG00000167964.13	transcript	ENST00000210187.11	protein_coding	9/9	324		chr16	TogoVar
RAB27A_chr15_55197966_55294813	55217663	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(45): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp2 HG00741.hp1 HG01081.hp2 HG01175.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG03098.hp2 HG03486.hp2 HG03490.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 NA18941.hp2 NA18948.hp1 NA18953.hp1 NA18961.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp2 NA18982.hp2 NA19004.hp2 NA19009.hp1 NA19064.hp1 NA19076.hp2 NA19090.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0001 a0001c0001t0002 a0001c0001t0029	a0001c0001t0001g0024 a0001c0001t0002g0013 a0001c0001t0002g0018 others(45): Show a0001c0001t0001g0024 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0039 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0002g0304 a0001c0001t0002g0314 a0001c0001t0029g0066	48	320	0.1500	-21	c.467 others(38): Show c.467+6205_467+6225delTTTTTTTTTTTTTTTTTTTTT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB2A_chr8_60511987_60628644	60565676	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp1 others(27): Show HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01255.hp1 HG02015.hp1 HG02056.hp1 HG02523.hp2 HG02735.hp2 HG03491.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp2 NA18939.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 others(27): Show a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0167 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0318 a0001c0001t0005g0280 a0001c0001t0009g0186	30	358	0.0838	-21	c.119 others(38): Show c.119-6338_119-6318delTTTTTTTTTTTTTTTTTTTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB31_chr18_9703301_9867551	9719287	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	322	0.0031	-21	c.39+ others(38): Show c.39+10845_39+10865delAAAAAAAAAAATATATATATA	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB31_chr18_9703301_9867551	9719289	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0180 a0001c0001t0003g0181	2	322	0.0062	-21	c.39+ others(38): Show c.39+10847_39+10867delAAAAAAAAATATATATATATA	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar

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