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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PPIAL4C_chr1_149578848_149589607	149583467	GAAGAAAG others(53): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA20129.hp2 HG03486.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0006c0006t0003 a0001c0001t0002 a0006c0006t0003	a0001c0001t0002g0000 a0006c0006t0003g0000 a0001c0001t0002g0000 a0006c0006t0003g0000	2	448	0.0045	-60	c.-43 others(69): Show c.-430_-371delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA		PPIAL4C	ENSG00000288867.1	transcript	ENST00000585245.3	protein_coding					380		chr1	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(53): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00609.hp2 others(31): Show HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01243.hp2 HG01515.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02148.hp1 HG02258.hp2 HG02300.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp2 HG03239.hp2 HG03654.hp2 HG04199.hp2 HG06807.hp2 NA18943.hp2 NA18954.hp1 NA18960.hp1 NA18962.hp2 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA19007.hp1 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0006 a0001c0001 a0008c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0045 a0001c0001t0048 a0001c0001t0051 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0008c0006t0001	a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0191 others(31): Show a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0196 a0001c0001t0002g0228 a0001c0001t0002g0239 a0001c0001t0005g0198 a0001c0001t0005g0202 a0001c0001t0005g0220 a0001c0001t0006g0163 a0001c0001t0006g0177 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0229 a0001c0001t0015g0205 a0001c0001t0015g0208 a0001c0001t0021g0249 a0001c0001t0021g0254 a0001c0001t0024g0164 a0001c0001t0025g0234 a0001c0001t0045g0189 a0001c0001t0048g0197 a0001c0001t0051g0232 a0001c0001t0056g0209 a0001c0001t0057g0241 a0001c0001t0059g0176 a0008c0006t0001g0190	34	254	0.1339	-60	c.292 others(79): Show c.292-24692_292-24633delTTATCTTCAGGTGTACTGAAGATAAA TGAATTATCTTCAGGTGTACTGAAGATAAATGAA		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP1R12C_chr19_55085918_55122637	55096894	CGTCTTCG others(53): Show CGTCTTCGCCCCTTCCCCGCAGTTCACCACCGTCTTCGCCCCTTCCCTGC AGTTCACCACT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0053 a0001c0011t0005g0053	1	390	0.0026	-60	c.952 others(75): Show c.952-619_952-560delAGTGGTGAACTGCAGGGAAGGGGCGAAGAC GGTGGTGAACTGCGGGGAAGGGGCGAAGAC		PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21						chr19	TogoVar
PPP2R2C_chr4_6315581_6477614	6336673	ATCCCTCC others(53): Show ATCCCTCCCTCCCTCCCTGCTTCCATCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01934.hp1 others(2): Show HG00621.hp1 HG00621.hp2 HG01934.hp1 HG02135.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0001t0001 a0001c0001t0006 a0001c0002t0003	a0001c0001t0001g0049 a0001c0001t0006g0005 a0001c0001t0006g0172 others(2): Show a0001c0001t0001g0049 a0001c0001t0006g0005 a0001c0001t0006g0172 a0001c0001t0006g0188 a0001c0002t0003g0219	5	298	0.0168	-60	c.791 others(77): Show c.791-3002_791-2943delGGGAAGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGATGGAAGCAGGGAGGGAGGGAGGGA		PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8						chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131939160	TCGGCAGA others(53): Show TCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGC TCCAGAAAACA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp2 HG01361.hp1 others(22): Show HG00673.hp1 HG01109.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG02129.hp2 HG02293.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp2 HG03540.hp1 HG03579.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18952.hp2 NA18957.hp2 NA18971.hp2 NA18974.hp2 NA18986.hp2 NA18994.hp1 NA19043.hp1 NA19060.hp2 NA19067.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070	a0001c0001t0003g0102 a0001c0001t0004g0012 a0001c0001t0004g0057 others(21): Show a0001c0001t0003g0102 a0001c0001t0004g0012 a0001c0001t0004g0057 a0001c0001t0004g0067 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0008g0011 a0001c0001t0008g0035 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0013g0062 a0001c0001t0013g0161 a0001c0001t0068g0036 a0001c0001t0069g0012 a0001c0001t0070g0061	25	394	0.0635	-60	c.199 others(75): Show c.199-864_199-805delACCTGCTCCAGAAAACACGGCAGGCTGCAT TCGGCAGACCTGCTCCAGAAAACACGGCAG		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP3CA_chr4_101018418_101352526	101090833	GACATATC others(53): Show GACATATCTGTGTCTATATTATAATATACACACATATCTGTGTCTATATT ATAATATACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(64): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01123.hp2 HG01255.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01975.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18906.hp1 NA18945.hp2 NA18948.hp2 NA18953.hp1 NA18961.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18993.hp1 NA19001.hp1 NA19007.hp1 NA19057.hp1 NA19062.hp1 NA19077.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0059 a0001c0001t0061 a0001c0001t0066 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 a0001c0002t0025 a0001c0002t0056 a0001c0002t0074 a0001c0004t0011 a0001c0006t0004	a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0134 others(64): Show a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0055 a0001c0001t0003g0047 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0004g0140 a0001c0001t0004g0146 a0001c0001t0004g0150 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0004g0189 a0001c0001t0005g0180 a0001c0001t0008g0139 a0001c0001t0008g0147 a0001c0001t0008g0154 a0001c0001t0008g0187 a0001c0001t0010g0026 a0001c0001t0010g0046 a0001c0001t0010g0058 a0001c0001t0010g0070 a0001c0001t0011g0099 a0001c0001t0011g0100 a0001c0001t0013g0177 a0001c0001t0016g0061 a0001c0001t0018g0051 a0001c0001t0018g0052 a0001c0001t0020g0105 a0001c0001t0020g0107 a0001c0001t0021g0101 a0001c0001t0026g0138 a0001c0001t0027g0002 a0001c0001t0030g0003 a0001c0001t0032g0008 a0001c0001t0038g0034 a0001c0001t0042g0045 a0001c0001t0044g0025 a0001c0001t0045g0064 a0001c0001t0047g0048 a0001c0001t0049g0057 a0001c0001t0050g0022 a0001c0001t0051g0086 a0001c0001t0053g0098 a0001c0001t0059g0164 a0001c0001t0061g0157 a0001c0001t0066g0121 a0001c0001t0069g0159 a0001c0001t0072g0190 a0001c0001t0073g0191 a0001c0002t0001g0115 a0001c0002t0012g0084 a0001c0002t0013g0117 a0001c0002t0025g0116 a0001c0002t0056g0092 a0001c0002t0074g0192 a0001c0004t0011g0102 a0001c0004t0011g0108 a0001c0006t0004g0183	67	192	0.3490	-60	c.782 others(77): Show c.782+2883_782+2942delGTGTATATTATAATATAGACACAGATAT GTGTGTATATTATAATATAGACACAGATATGT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	6/13						chr4	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(53): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02132.hp2 HG02486.hp2 others(7): Show HG00609.hp1 HG02132.hp2 HG02486.hp2 HG03139.hp2 NA18951.hp1 NA18955.hp1 NA19001.hp1 NA19054.hp1 NA19077.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0194 a0001c0001t0001g0221 a0001c0003t0001g0331 others(7): Show a0001c0001t0001g0194 a0001c0001t0001g0221 a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0333 a0001c0003t0001g0334 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0345	10	394	0.0254	-60	c.135 others(77): Show c.1356-649_1356-590delCACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACA		PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50344522	CCCCCCAG others(53): Show CCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCTCCT CCAGTCAGTTT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0208 a0001c0002t0021g0208	1	340	0.0029	-60	c.-14 others(78): Show c.-148+999_-148+1058delATTCCCCCCAGTCAGTGCCTCCTCCAG TCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCA		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50345528	CCCAGTCA others(53): Show CCCAGTCAGTTTTCCCCCAGTCAGTTTCCCTCCAGTCAGTGCCCCCCAGT CAGTGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0229 a0002c0004t0012g0230 a0002c0004t0012g0229 a0002c0004t0012g0230	2	340	0.0059	-60	c.-14 others(79): Show c.-148+1988_-148+2047delTTTCCCCCAGTCAGTTTCCCTCCAGT CAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAGT		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRB3_chr12_11260914_11274707	11268099	GGTACGTT others(53): Show GGTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTC CTGGAGGAGGT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01891.hp2 HG02809.hp1 HG03579.hp1 HG01891.hp2 HG02809.hp1 HG03579.hp1	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0002 a0000c0014t0002	a0000c0014t0002g0018 a0000c0014t0002g0018	3	443	0.0068	-60	c.101 others(70): Show c.101-11_149delACCTCCTCCAGGAAAGCCAGAAGGACGACGCCCAC AAGGAGGAAACCAGCCCCAACGTAC	p.Gly others(4): Show p.Gly34fs	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	187/1227	101/1056	34/351			chr12	TogoVar
PRDM15_chr21_41793225_41884344	41806304	TCACCACC others(53): Show TCACCACCACCACCATCACCACCACCACCATCACCATCACCACCACCATC ACCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00621.hp1 others(20): Show HG00558.hp1 HG00597.hp1 HG00621.hp1 HG01884.hp2 HG02015.hp2 HG02071.hp2 HG02155.hp2 HG02273.hp2 HG02486.hp2 HG02559.hp2 HG03225.hp2 HG03540.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 NA18940.hp2 NA18966.hp2 NA18992.hp2 NA18993.hp2 NA19010.hp1 NA19068.hp2 NA19081.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0023 a0001c0027 others(5): Show a0001c0002 a0001c0023 a0001c0027 a0002c0007 a0002c0015 a0002c0024 a0002c0034 a0002c0046	a0001c0002t0027 a0001c0002t0044 a0001c0023t0003 others(8): Show a0001c0002t0027 a0001c0002t0044 a0001c0023t0003 a0001c0027t0005 a0001c0027t0048 a0002c0007t0005 a0002c0007t0046 a0002c0015t0005 a0002c0024t0005 a0002c0034t0005 a0002c0046t0040	a0001c0002t0027g0016 a0001c0002t0027g0017 a0001c0002t0044g0014 others(20): Show a0001c0002t0027g0016 a0001c0002t0027g0017 a0001c0002t0044g0014 a0001c0023t0003g0082 a0001c0027t0005g0256 a0001c0027t0048g0263 a0002c0007t0005g0051 a0002c0007t0005g0131 a0002c0007t0005g0133 a0002c0007t0005g0134 a0002c0007t0005g0140 a0002c0007t0005g0198 a0002c0007t0005g0210 a0002c0007t0005g0222 a0002c0007t0046g0128 a0002c0015t0005g0216 a0002c0015t0005g0340 a0002c0015t0005g0401 a0002c0015t0005g0402 a0002c0024t0005g0055 a0002c0024t0005g0181 a0002c0034t0005g0299 a0002c0046t0040g0125	23	406	0.0567	-60	c.265 others(79): Show c.2653-1750_2653-1691delGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRDM16_chr1_3064203_3443621	3167605	CACCTCTG others(53): Show CACCTCTGTGACATTGCCCCCCTGCTCCTGCCATCCTCCCACCCCACCCC TGCCTCCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp1 HG02622.hp2 HG03540.hp1	a0001 a0001	a0001c0016 a0001c0025 a0001c0016 a0001c0025	a0001c0016t0020 a0001c0025t0044 a0001c0016t0020 a0001c0025t0044	a0001c0016t0020g0108 a0001c0025t0044g0109 a0001c0016t0020g0108 a0001c0025t0044g0109	2	210	0.0095	-60	c.38- others(77): Show c.38-18519_38-18460delACCTCTGTGACATTGCCCCCCTGCTCCT GCCATCCTCCCACCCCACCCCTGCCTCCCAGT		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16						chr1	TogoVar
PRDM16_chr1_3064203_3443621	3167606	ACCTCTGT others(53): Show ACCTCTGTGACATTGCCCCCCTGCTCCTGCCATCCTCCCACCCCACCCCT GCCTCCCAGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG03834.hp1 others(5): Show HG00558.hp2 HG00673.hp1 HG03834.hp1 NA18747.hp2 NA19004.hp1 NA19010.hp1 NA19074.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0003 a0001c0001t0034 a0001c0002t0005 others(4): Show a0001c0001t0003 a0001c0001t0034 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0052 a0001c0009t0074	a0001c0001t0003g0013 a0001c0001t0003g0049 a0001c0001t0034g0075 others(5): Show a0001c0001t0003g0013 a0001c0001t0003g0049 a0001c0001t0034g0075 a0001c0002t0005g0186 a0001c0002t0008g0094 a0001c0002t0015g0118 a0001c0002t0052g0199 a0001c0009t0074g0117	8	210	0.0381	-60	c.38- others(77): Show c.38-18460_38-18401delTGCCTCTGTGACATTGCCCCCCTGCTCC TGCCATCCTCCCACCCCACCCCTGCCTCCCAG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3167665	TGCCTCTG others(53): Show TGCCTCTGTGACATTGCCCCCCTGCTCCTGCCATCCTCCCACCCCACCCC TGCCTCCCAGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0045 a0001c0001t0001 a0001c0001t0045	a0001c0001t0001g0006 a0001c0001t0045g0024 a0001c0001t0001g0006 a0001c0001t0045g0024	2	210	0.0095	-60	c.38- others(77): Show c.38-18360_38-18301delACCCCACCCCTGCCTCCCAGCGCCTCTG TGACATTGCCCCCCTGCTCCTGCCATCCTCCC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3167795	ACATTGCC others(53): Show ACATTGCCCCCCTGCTCCTGCCATCCTCCCGCCCCACCCCTGCCTCCCAG CGCCTCTGTGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA21309.hp1 HG01243.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0029 a0001c0001t0001 a0002c0003t0029	a0001c0001t0001g0055 a0002c0003t0029g0106 a0001c0001t0001g0055 a0002c0003t0029g0106	2	210	0.0095	-60	c.38- others(77): Show c.38-18326_38-18267delTGCCCCCCTGCTCCTGCCATCCTCCCGC CCCACCCCTGCCTCCCAGCGCCTCTGTGGCAT		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKACB_chr1_84139271_84243498	84198921	GTGTATAT others(53): Show GTGTATATATGTATATGTGTATATATACATATATATTCATATATATGTGT ATACGCATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02559.hp2 HG02622.hp2 HG00639.hp1 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0115 a0001c0001t0001g0150 a0001c0001t0001g0156	3	320	0.0094	-60	c.783 others(77): Show c.783+1131_783+1190delATTCATATATATGTGTATACGCATATAT GTATATATGTATATGTGTATATATACATATAT		PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151603370	GTCCTCAC others(53): Show GTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGG GACACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0230 a0001c0001t0015g0230	1	252	0.0040	-60	c.755 others(77): Show c.755-7976_755-7917delTGGAGCGTGTCCCTCCGTGTGCGGTGAG GACGGAGCGTGTCCCTCCGTGTGCGGTGAGGA		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603423	ACGCTCCA others(53): Show ACGCTCCATCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCAC ACGGAGGCACC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	252	0.0040	-60	c.755 others(77): Show c.755-8029_755-7970delGGTGCCTCCGTGTGCGGTGAGGACGGAG CGTGTCCCTCCGTGTGCGGTGAGGATGGAGCG		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798407	ATGGTGAT others(53): Show ATGGTGATGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGACGGT GGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18906.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0041 a0001c0001t0038 a0001c0001t0041	a0001c0001t0038g0117 a0001c0001t0041g0016 a0001c0001t0038g0117 a0001c0001t0041g0016	2	178	0.0112	-60	c.185 others(79): Show c.1855-5460_1855-5401delATGGTGGTGGTGGTGGTGGTGACGGT GGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798716	GTGGTGGT others(53): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0074 a0001c0003t0040g0074	1	178	0.0056	-60	c.185 others(79): Show c.1855-5115_1855-5056delGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23865481	ATATATAT others(53): Show ATATATATATATATATATATATATATATATATATATATGTGTGTGTGTGT GTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG03225.hp2 others(1): Show HG02055.hp2 HG02723.hp2 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0005t0078 a0001c0006t0006 a0001c0005t0001 a0001c0005t0078 a0001c0006t0006	a0001c0005t0001g0013 a0001c0005t0078g0014 a0001c0006t0006g0015 others(1): Show a0001c0005t0001g0013 a0001c0005t0078g0014 a0001c0006t0006g0015 a0001c0006t0006g0043	4	148	0.0270	-60	c.205 others(79): Show c.205+28077_205+28136delATATATATATATATATATATATATAT ATATATATATGTGTGTGTGTGTGTGTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122158	TGGTTAGG others(53): Show TGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTT AGGGTCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19011.hp2 HG01934.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0197 a0001c0003t0003g0231 a0001c0002t0001g0197 a0001c0003t0003g0231	2	286	0.0070	-60	c.335 others(79): Show c.335-13100_335-13041delTAGGGTCGTGGTGGTTAGGGTTGTGG TGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122652	GGTGGTTA others(53): Show GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	286	0.0035	-60	c.335 others(79): Show c.335-12604_335-12545delTAGGGTCGTGGCGGTGGTTAGGGTTG TGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD1_chr14_29571479_29932847	29826742	TACACATA others(53): Show TACACATATATATATACATATATATATACACATATATATACATATATACA CATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01433.hp2 HG02717.hp1 others(9): Show HG01071.hp2 HG01433.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG03471.hp1 NA18968.hp2 NA18988.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001	a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0088 others(9): Show a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0002g0039 a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0002t0001g0125 a0001c0002t0002g0030 a0001c0002t0002g0086 a0001c0010t0001g0012	12	156	0.0769	-60	c.264 others(81): Show c.264+100447_264+100506delGTATATATATGTGTATATATGTAT ATATATGTGTATATATATATGTATATATATATGTGT		PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17						chr14	TogoVar
PRKG1_chr10_51069487_52303350	51553698	TATACGTG others(53): Show TATACGTGTATATAATATATGTATATATTAGATACGTGTATATAATATAT GTATATATTAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG01243.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0015 a0001c0003t0002g0033 a0001c0001t0003g0015 a0001c0003t0002g0033	2	64	0.0313	-60	c.592 others(79): Show c.592+85916_592+85975delATATTAGATACGTGTATATAATATAT GTATATATTAGATACGTGTATATAATATATGTAT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51553782	ATATTAGA others(53): Show ATATTAGATACGTGTATATAATATATGTATGTATTAGATACGTGTATATA ATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0024 a0001c0002t0006g0024	1	64	0.0156	-60	c.592 others(79): Show c.592+86080_592+86139delTATATAATATATGTATGTATTAGATA CGTGTATATAATATATGTATGTATTAGATACGTG		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROP1_chr5_177987235_178001242	177999070	CTCTGTAG others(53): Show CTCTGTAGAATACACATCCCAGAACTGCCAGGACACCTTCACTCTGCCAT ACTCTCACCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	436	0.0023	-60	c.-31 others(71): Show c.-3197_-3138delCGGGTGAGAGTATGGCAGAGTGAAGGTGTCCTGG CAGTTCTGGGATGTGTATTCTACAGA		PROP1	ENSG00000175325.2	transcript	ENST00000308304.2	protein_coding					2829		chr5	TogoVar
PRR36_chr19_7863719_7879390	7877989	CATATATA others(53): Show CATATATACATATATACATATATACGTATATACGCATATATACATATATA CATATATACGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-60	c.-37 others(71): Show c.-3771_-3712delACGTATATATGTATATATGTATATATGCGTATAT ACGTATATATGTATATATGTATATAT		PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding					3600		chr19	TogoVar
PRR36_chr19_7863719_7879390	7877996	ACATATAT others(53): Show ACATATATACATATATACGTATATACGCATATATACATATATACATATAT ACGTATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01515.hp2 HG02165.hp1 others(2): Show HG01257.hp2 HG01515.hp2 HG02165.hp1 HG04115.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0019	5	386	0.0130	-60	c.-37 others(71): Show c.-3778_-3719delCGTATATACGTATATATGTATATATGTATATATG CGTATATACGTATATATGTATATATG		PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding					3607		chr19	TogoVar
PRR36_chr19_7863719_7879390	7878098	ACATATAT others(53): Show ACATATATACATATATACGTGTATACGCATATATACATATATACATATAT ACGTGTATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(146): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp2 NA18951.hp1 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0008 a0013 a0014 a0024 a0025 a0026 a0027 a0029 a0032 a0034 a0036 a0037 a0038	a0001c0001 a0002c0002 a0003c0003 others(15): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004 a0006c0007 a0008c0009 a0013c0014 a0014c0013 a0024c0026 a0025c0032 a0026c0034 a0027c0033 a0029c0028 a0032c0027 a0034c0025 a0036c0047 a0037c0022 a0038c0021	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(17): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0005c0004t0003 a0006c0007t0001 a0008c0009t0002 a0013c0014t0001 a0014c0013t0001 a0014c0013t0006 a0024c0026t0002 a0025c0032t0001 a0026c0034t0001 a0027c0033t0001 a0029c0028t0002 a0032c0027t0001 a0034c0025t0001 a0036c0047t0001 a0037c0022t0001 a0038c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0059 a0002c0002t0001g0004 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0059 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0061 a0002c0002t0002g0003 a0003c0003t0001g0002 a0005c0004t0003g0005 a0006c0007t0001g0008 a0008c0009t0002g0022 a0013c0014t0001g0057 a0014c0013t0001g0048 a0014c0013t0006g0066 a0024c0026t0002g0050 a0025c0032t0001g0054 a0026c0034t0001g0056 a0027c0033t0001g0055 a0029c0028t0002g0052 a0032c0027t0001g0051 a0034c0025t0001g0049 a0036c0047t0001g0045 a0037c0022t0001g0042 a0038c0021t0001g0041	149	386	0.3860	-60	c.-38 others(71): Show c.-3880_-3821delCGTATACACGTATATATGTATATATGTATATATG CGTATACACGTATATATGTATATATG		PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding					3709		chr19	TogoVar
PSAP_chr10_71811298_71856251	71855614	CCTGGAGC others(53): Show CCTGGAGCCCCCTAATGCCCTGGAAGCCTCCCTTGACCCCTCACCCTGTC TCAAACAATGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	430	0.0023	-60	c.-44 others(71): Show c.-4453_-4394delTCATTGTTTGAGACAGGGTGAGGGGTCAAGGGAG GCTTCCAGGGCATTAGGGGGCTCCAG		PSAP	ENSG00000197746.15	transcript	ENST00000394936.8	protein_coding					4364		chr10	TogoVar
PSMB2_chr1_35594541_35646526	35628578	GAAAAAAA others(53): Show GAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA TATATTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(18): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG01069.hp2 HG01071.hp2 HG01243.hp1 HG02083.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp2 HG03239.hp1 HG03540.hp1 HG03927.hp1 HG04115.hp1 NA18992.hp1 NA18995.hp2 NA19009.hp1 NA19078.hp1 NA19079.hp2 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 others(2): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0034	a0001c0001t0008g0243 a0001c0001t0008g0246 a0001c0001t0008g0247 others(17): Show a0001c0001t0008g0243 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0008g0250 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0008g0256 a0001c0001t0008g0258 a0001c0001t0008g0259 a0001c0001t0014g0001 a0001c0001t0014g0245 a0001c0001t0014g0255 a0001c0001t0018g0249 a0001c0001t0018g0251 a0001c0001t0018g0257 a0001c0001t0021g0010 a0001c0001t0021g0244 a0001c0001t0034g0242	21	300	0.0700	-60	c.285 others(77): Show c.285+2636_285+2695delAAAAAAATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTT		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(53): Show AAAATATATATATATATATATATATTATATTATATATATATATATATATA TATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02630.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0072 a0001c0001t0055 a0001c0001t0072	a0001c0001t0055g0147 a0001c0001t0072g0144 a0001c0001t0055g0147 a0001c0001t0072g0144	2	354	0.0057	-60	c.68 others(69): Show c.681_*740delATATATATATATATATATATATATATATATAATATA ATATATATATATATATATATATTT		PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6				681		chr1	TogoVar
PTPRD_chr9_8309246_10618002	10341814	GTTCCTAA others(53): Show GTTCCTAAGTAATATTAATTCTTTTTTCCCCTCTCCTTTTATGTAGTTCC ATATGTATTGT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0003 a0003c0008t0008g0003	1	34	0.0294	-60	c.-59 others(77): Show c.-599-857_-599-798delACAATACATATGGAACTACATAAAAGGA GAGGGGAAAAAAGAATTAATATTACTTAGGAA		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45						chr9	TogoVar
PTTG1IP_chr21_44844598_44878690	44863122	ACAGAGAC others(53): Show ACAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCAC GGCCTCAGCAG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	444	0.0023	-60	c.169 others(77): Show c.169-1911_169-1852delCTGCTGAGGCCGTGGTGGGCTGTGTCTC TGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTG		PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5						chr21	TogoVar
PUM1_chr1_30926506_31070717	30972274	AAGGGAAG others(53): Show AAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0086 a0001c0001t0014g0086	1	334	0.0030	-60	c.150 others(79): Show c.1506+2317_1506+2376delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21						chr1	TogoVar
PXDN_chr2_1626887_1749515	1747302	ATGCCATC others(53): Show ATGCCATCGCCCCTGCGGGATCCTGCGCACACTCTCCAGTGGGTTCAGAT TAGACTCCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp2 others(35): Show HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00621.hp2 HG01243.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02148.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18941.hp2 NA18944.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18984.hp1 NA18991.hp1 NA19002.hp1 NA19012.hp2 NA19068.hp1 NA19079.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0033 a0001c0002t0002 a0001c0002t0003 a0001c0008t0002 a0001c0016t0005	a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 others(35): Show a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0299 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0005g0175 a0001c0001t0005g0300 a0001c0001t0009g0178 a0001c0001t0009g0181 a0001c0001t0033g0185 a0001c0002t0002g0201 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0296 a0001c0008t0002g0202 a0001c0008t0002g0297 a0001c0008t0002g0298 a0001c0016t0005g0001	38	322	0.1180	-60	c.-29 others(71): Show c.-2907_-2848delCCCGGAGTCTAATCTGAACCCACTGGAGAGTGTG CGCAGGATCCCGCAGGGGCGATGGCA		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding					2788		chr2	TogoVar
PXMP2_chr12_132682587_132709985	132705244	TATACACA others(53): Show TATACACACACACACACACACACACACACACATATATATGTATATATGTG TCTATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	350	0.0029	-60	c.55 others(69): Show c.558_*617delATACACACACACACACACACACACACACACATATAT ATGTATATATGTGTCTATATATAC		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding					260		chr12	TogoVar
PXYLP1_chr3_141226825_141299924	141248659	ATATATAC others(53): Show ATATATACACACACGTGTATATATACACACGTATATACACACACGTGTAT ATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG01496.hp2 others(8): Show HG01109.hp2 HG01433.hp1 HG01496.hp2 HG02451.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0008t0005	a0001c0004t0001g0224 a0001c0004t0002g0193 a0001c0004t0002g0223 others(8): Show a0001c0004t0001g0224 a0001c0004t0002g0193 a0001c0004t0002g0223 a0001c0004t0003g0117 a0001c0004t0003g0192 a0001c0004t0003g0194 a0001c0004t0003g0221 a0001c0004t0003g0222 a0001c0004t0003g0225 a0001c0004t0003g0323 a0001c0008t0005g0356	11	384	0.0287	-60	c.-53 others(79): Show c.-53-11427_-53-11368delCACACACGTGTATATATACACACGTA TATACACACACGTGTATATATACACACGTATATA		PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
QRICH2_chr17_76269049_76313276	76292824	TACCAGGT others(53): Show TACCAGGTTGGGCCAAACCAGACTGATCCATTCCAGGCCAGACCAAACCA CGCTGATCTGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp1 HG02486.hp1 HG02615.hp2 others(13): Show HG01891.hp1 HG02486.hp1 HG02615.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 NA19030.hp2 NA19043.hp2 NA21309.hp1 NA21309.hp2	a0005 a0015 a0016 others(1): Show a0005 a0015 a0016 a0031	a0005c0007 a0015c0018 a0016c0017 others(1): Show a0005c0007 a0015c0018 a0016c0017 a0031c0041	a0005c0007t0003 a0015c0018t0003 a0016c0017t0002 others(1): Show a0005c0007t0003 a0015c0018t0003 a0016c0017t0002 a0031c0041t0002	a0005c0007t0003g0011 a0005c0007t0003g0012 a0005c0007t0003g0013 others(13): Show a0005c0007t0003g0011 a0005c0007t0003g0012 a0005c0007t0003g0013 a0005c0007t0003g0014 a0005c0007t0003g0015 a0005c0007t0003g0016 a0005c0007t0003g0017 a0005c0007t0003g0018 a0005c0007t0003g0020 a0005c0007t0003g0022 a0005c0007t0003g0023 a0015c0018t0003g0019 a0015c0018t0003g0021 a0016c0017t0002g0024 a0016c0017t0002g0026 a0031c0041t0002g0025	16	364	0.0440	-60	c.184 others(69): Show c.1843_1902delGCAGATCAGCGTGGTTTGGTCTGGCCTGGAATGGAT CAGTCTGGTTTGGCCCAACCTGGT	p.Ala others(13): Show p.Ala615_Gly634del	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	4/19	2180/5972	1843/5664	615/1887			chr17	TogoVar
RAB21_chr12_71749863_71805286	71750685	GATTGTGC others(53): Show GATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCA AAACAAAAAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0150 a0001c0001t0128g0150	1	380	0.0026	-60	c.-44 others(71): Show c.-4444_-4385delATTGTGCCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAACAAAAAAT		RAB21	ENSG00000080371.6	transcript	ENST00000261263.5	protein_coding					4177		chr12	TogoVar
RAB22A_chr20_58304715_58372507	58309453	GCAGGGGC others(53): Show GCAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTGCAGACAGGGGCGG GGCCCTGCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01975.hp2 HG02976.hp1 others(1): Show HG01516.hp2 HG01975.hp2 HG02976.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0097 a0001c0001t0001 a0001c0001t0002 a0001c0001t0097	a0001c0001t0001g0326 a0001c0001t0002g0121 a0001c0001t0002g0136 others(1): Show a0001c0001t0001g0326 a0001c0001t0002g0121 a0001c0001t0002g0136 a0001c0001t0097g0108	4	394	0.0102	-60	c.-52 others(69): Show c.-523_-464delCAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTG CAGACAGGGGCGGGGCCCTGCAGA		RAB22A	ENSG00000124209.4	transcript	ENST00000244040.4	protein_coding					261		chr20	TogoVar
RAD21L1_chr20_1221044_1260876	1258817	CTGCTTCT others(53): Show CTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCTAATATAAACA CATAAAGCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01993.hp1 others(12): Show HG01081.hp1 HG01175.hp1 HG01993.hp1 HG02004.hp1 HG02145.hp1 HG02896.hp1 HG02897.hp2 HG03486.hp1 HG03654.hp1 HG03831.hp1 NA18522.hp1 NA19030.hp2 NA19054.hp1 NA20300.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 others(1): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 a0003c0004t0006	a0001c0001t0001g0001 a0001c0001t0001g0013 a0003c0004t0001g0091 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0003c0004t0001g0091 a0003c0004t0003g0034 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0006g0026 a0003c0004t0006g0089 a0003c0004t0006g0099 a0003c0004t0006g0154 a0003c0004t0006g0156 a0003c0004t0006g0157	15	364	0.0412	-60	c.43 others(71): Show c.4361_*4420delTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCT TTTCTAATATAAACACATAAAGCTCT		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					2942		chr20	TogoVar
RALGDS_chr9_133092722_133126240	133105824	AGCCCCCG others(53): Show AGCCCCCGCCCCAGCCCCCGCCCCAGCCCCCGCCCCAGCCCCAGCCCCCG CCCCAGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp1 HG03516.hp2 HG02145.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0055 a0001c0011t0001g0270 a0001c0011t0001g0055 a0001c0011t0001g0270	3	424	0.0071	-60	c.160 others(76): Show c.1602+48_1602+107delGGGGGCTGGGGCGGGGGCTGGGGCTGGGG CGGGGGCTGGGGCGGGGGCTGGGGCGGGGGC		RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	9/17						chr9	TogoVar
RALGDS_chr9_133092722_133126240	133105836	AGCCCCCG others(53): Show AGCCCCCGCCCCAGCCCCCGCCCCAGCCCCAGCCCCCGCCCCAGCCCCCG CCCCAGCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(79): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02155.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02738.hp2 HG03041.hp2 HG03130.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 NA18522.hp1 NA18906.hp2 NA18944.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19066.hp1 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0001c0009 a0001c0014 others(3): Show a0001c0003 a0001c0009 a0001c0014 a0001c0025 a0001c0026 a0007c0036	a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 others(6): Show a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0009t0001 a0001c0014t0001 a0001c0025t0002 a0001c0026t0002 a0007c0036t0002	a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0008 others(43): Show a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0030 a0001c0003t0002g0052 a0001c0003t0002g0063 a0001c0003t0002g0065 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0211 a0001c0003t0002g0237 a0001c0003t0002g0263 a0001c0003t0009g0071 a0001c0003t0010g0064 a0001c0003t0011g0074 a0001c0009t0001g0066 a0001c0009t0001g0078 a0001c0009t0001g0094 a0001c0009t0001g0097 a0001c0014t0001g0236 a0001c0025t0002g0095 a0001c0026t0002g0096 a0007c0036t0002g0079	82	424	0.1934	-60	c.160 others(75): Show c.1602+36_1602+95delGGGGGCTGGGGCGGGGGCTGGGGCGGGGGC TGGGGCTGGGGCGGGGGCTGGGGCGGGGGC		RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	9/17						chr9	TogoVar
RAPGEF1_chr9_131571775_131745076	131586214	GCACACAC others(53): Show GCACACACACACACACACACCTGCAGAGCAAGACTCTGTCTCAAACACAC ACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0247 a0001c0002t0004g0247	1	368	0.0027	-60	c.323 others(79): Show c.3233+1462_3233+1521delTGTGTGTGTGTGTGTGTTTGAGACAG AGTCTTGCTCTGCAGGTGTGTGTGTGTGTGTGTG		RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26						chr9	TogoVar
RBFOX1_chr16_6014024_7718340	7504727	ATATATAT others(53): Show ATATATATATATATATATATATATATATTTATATATATATATATTTATAT ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	68	0.0147	-60	c.28- others(77): Show c.28-13404_28-13345delATATATATATATTTATATATATATATAT TTATATATATATATATTTATATATATATATAT		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504727	ATATATAT others(53): Show ATATATATATATATATATATATATATATTTATATATATATATATTTATAT ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19006.hp1 HG02622.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0107 a0001c0003t0004g0194 a0001c0001t0001g0107 a0001c0003t0004g0194	2	234	0.0086	-60	c.88- others(77): Show c.88-13404_88-13345delATATATATATATTTATATATATATATAT TTATATATATATATATTTATATATATATATAT		RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79269759	TCTTTCCT others(53): Show TCTTTCCTTGCCATTAGCATTTAAATGCTGGGTTCCTTTCCATTGTAAAC ATCATCACAAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	154	0.0065	-60	c.-73 others(79): Show c.-73-34014_-73-33955delCTTGTGATGATGTTTACAATGGAAAG GAACCCAGCATTTAAATGCTAATGGCAAGGAAAG		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14						chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79491071	GGGGAGGC others(53): Show GGGGAGGCGAGGGGAGGCGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGA GGGGAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20129.hp1 HG03041.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0066 a0001c0001t0008g0117 a0001c0001t0001g0066 a0001c0001t0008g0117	2	154	0.0130	-60	c.-31 others(79): Show c.-319-8533_-319-8474delTTCCCCTCCCCTCCCCTCCCCTCTCC TCCCCTCCCCTCCCCTCGCCTCCCCTCGCCTCCC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar

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