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
ASB9_chrX_15238987_15275083	15267427	T T	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0049 a0001c0001t0008g0049	1	326	0.0031	21	c.94+ others(36): Show c.94+2353_94+2354insTTTTTTTTTTTTTTTTTTTTA		ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6						chrX	TogoVar
ASCC1_chr10_72091032_72221276	72198365	G G	GGGGGAGG others(14): Show GGGGGAGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp2 NA18747.hp2 HG02647.hp1 HG02970.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0186 a0002c0002t0001g0192 a0002c0002t0001g0171 a0002c0002t0001g0186 a0002c0002t0001g0192	3	173	0.0173	21	c.311 others(38): Show c.311-1377_311-1376insTCCCCCTCCCCTTCCCTCCCC		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9						chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02280.hp1 HG02615.hp2 others(6): Show HG01192.hp1 HG02280.hp1 HG02615.hp2 HG02818.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp2 NA18971.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0014	a0001c0002 a0002c0003 a0003c0005 others(2): Show a0001c0002 a0002c0003 a0003c0005 a0007c0010 a0014c0016	a0001c0002t0003 a0001c0002t0011 a0002c0003t0018 others(3): Show a0001c0002t0003 a0001c0002t0011 a0002c0003t0018 a0003c0005t0002 a0007c0010t0007 a0014c0016t0002	a0001c0002t0003g0105 a0001c0002t0011g0003 a0002c0003t0018g0311 others(6): Show a0001c0002t0003g0105 a0001c0002t0011g0003 a0002c0003t0018g0311 a0003c0005t0002g0131 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0156 a0007c0010t0007g0002 a0014c0016t0002g0160	9	145	0.0621	21	c.530 others(40): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41						chr6	TogoVar
ASCL1_chr12_102952674_102965513	102962372	T T	TTTTCTTT others(14): Show TTTTCTTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	245	0.0041	21	c.30 others(32): Show c.3058_*3059insTTTCTTTTCTTTCTTTCTTTC		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					1860		chr12	TogoVar
ASCL1_chr12_102952674_102965513	102962452	T T	TTCTTCTG others(14): Show TTCTTCTGTCTTCCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0001 a0013c0021t0001g0001	1	342	0.0029	21	c.31 others(32): Show c.3138_*3139insTCTTCTGTCTTCCTTTCTTTC		ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding					1940		chr12	TogoVar
ASCL5_chr1_201108943_201132184	201128035	A A	AGGAGGCC others(14): Show AGGAGGCCTGTGCTGGGAGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19079.hp1 NA19078.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	415	0.0048	21	c.-14 others(32): Show c.-1458_-1457insCAGCTCCCAGCACAGGCCTCC		ASCL5	ENSG00000232237.5	transcript	ENST00000449188.3	protein_coding					852		chr1	TogoVar
ASIC1_chr12_50052596_50088611	50086479	T T	TTGGTGGT others(14): Show TTGGTGGTGGTAGTGGTGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(137): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0009 a0003c0008	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0011 a0002c0009t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0012g0003 a0001c0001t0013g0039 a0001c0001t0014g0097 a0001c0003t0001g0165 a0001c0004t0001g0121 a0001c0005t0001g0001 a0001c0006t0001g0127 a0001c0006t0011g0128 a0002c0009t0001g0004 a0003c0008t0001g0096	140	251	0.5578	21	c.48 others(32): Show c.4830_*4831insTGGTGGTGGTAGTGGTGGTGG		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding					2869		chr12	TogoVar
ASIC1_chr12_50052596_50088611	50086479	T T	TTGGTGGT others(14): Show TTGGTGGTGGTGGTGGTGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(1): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0084 a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0084	4	115	0.0348	21	c.48 others(32): Show c.4830_*4831insTGGTGGTGGTGGTGGTGGTGG		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding					2869		chr12	TogoVar
ASIC1_chr12_50052596_50088611	50086496	G G	GGTGGTGG others(14): Show GGTGGTGGTGGTGGTGGTGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	322	0.0031	21	c.48 others(32): Show c.4847_*4848insGTGGTGGTGGTGGTGGTGGTA		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding					2886		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33087575	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	88	0.0114	21	c.987 others(38): Show c.987+1287_987+1288insAAAAAAAAAAAAAAAAAAAAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33098978	A A	AATATATA others(14): Show AATATATATATAAAAACAAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG01243.hp1 others(20): Show HG01074.hp1 HG01175.hp2 HG01243.hp1 HG01884.hp1 HG02145.hp2 HG02280.hp2 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG04228.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0025 a0001c0002t0028 a0001c0004t0001 a0001c0004t0010 a0001c0004t0016 a0001c0004t0027 a0002c0003t0005	a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0035 others(20): Show a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0035 a0001c0001t0003g0076 a0001c0001t0004g0042 a0001c0001t0009g0015 a0001c0001t0013g0016 a0001c0002t0001g0097 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0107 a0001c0002t0002g0139 a0001c0002t0010g0134 a0001c0002t0025g0087 a0001c0002t0028g0105 a0001c0004t0001g0147 a0001c0004t0001g0153 a0001c0004t0010g0151 a0001c0004t0016g0149 a0001c0004t0027g0148 a0002c0003t0005g0182 a0002c0003t0005g0184 a0002c0003t0005g0204	23	237	0.0970	21	c.860 others(39): Show c.860-10009_860-9989dupATTTTGTTTTTATATATATAT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	2/9						chr17	TogoVar
ASIP_chr20_34236423_34274344	34246250	T T	TCTCTTCT others(14): Show TCTCTTCTGTTTTTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG03471.hp1 HG02258.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0186 a0001c0001t0002g0051 a0001c0001t0001g0050 a0001c0001t0001g0186 a0001c0001t0002g0051	3	293	0.0102	21	c.-11 others(38): Show c.-11+4775_-11+4776insTCTTCTCCTCTTCTGTTTTTT		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1407110	T T	TAGATGGA others(14): Show TAGATGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0001 a0016c0032t0001	a0016c0032t0001g0152 a0016c0032t0001g0152	1	183	0.0055	21	c.164 others(40): Show c.1646-3622_1646-3621insCATCCATCCATCCATCCATCT		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1452931	G G	GCCTCCGC others(14): Show GCCTCCGCGAGGCCACGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0090 a0002c0003t0002g0090	1	183	0.0055	21	c.-92 others(28): Show c.-92_-91insGGGGGCGTGGCCTCGCGGAGG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding					23		chrX	TogoVar
ASPG_chr14_104080700_104120582	104085504	A A	ACCCCGCC others(14): Show ACCCCGCCAGGCCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	238	0.0042	21	c.-26 others(30): Show c.-267_-266insCCCCGCCAGGCCCCGCCCCGC		ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding					195		chr14	TogoVar
ASPG_chr14_104080700_104120582	104085504	A A	ATCCCGCC others(14): Show ATCCCGCCAGGCCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp2 others(113): Show HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18984.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp1 NA19067.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0002c0010 a0002c0016 a0002c0026 a0005c0017 a0011c0015	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(18): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0015 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0007 a0002c0003t0009 a0002c0003t0018 a0002c0003t0021 a0002c0005t0002 a0002c0005t0008 a0002c0010t0002 a0002c0016t0006 a0002c0026t0006 a0005c0017t0003 a0011c0015t0002	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0208 others(74): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0208 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0057 a0002c0002t0002g0156 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0207 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0005g0169 a0002c0002t0008g0047 a0002c0002t0013g0181 a0002c0002t0013g0190 a0002c0002t0013g0191 a0002c0002t0015g0043 a0002c0002t0015g0155 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0048 a0002c0003t0001g0058 a0002c0003t0001g0189 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0209 a0002c0003t0001g0227 a0002c0003t0002g0010 a0002c0003t0002g0200 a0002c0003t0005g0177 a0002c0003t0007g0229 a0002c0003t0009g0046 a0002c0003t0009g0172 a0002c0003t0009g0175 a0002c0003t0009g0176 a0002c0003t0018g0174 a0002c0003t0021g0173 a0002c0003t0021g0178 a0002c0005t0002g0045 a0002c0005t0002g0168 a0002c0005t0002g0215 a0002c0005t0008g0206 a0002c0005t0008g0221 a0002c0010t0002g0050 a0002c0016t0006g0205 a0002c0026t0006g0213 a0005c0017t0003g0222 a0011c0015t0002g0228	116	353	0.3286	21	c.-26 others(30): Show c.-267_-266insTCCCGCCAGGCCCCGCCCCGC		ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding					195		chr14	TogoVar
ASPH_chr8_61495556_61719592	61539697	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0157 a0001c0005t0001g0157	1	252	0.0040	21	c.176 others(40): Show c.1764+8373_1764+8374insACACACACACACACACACACA		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61539699	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	4	0.2500	21	c.176 others(40): Show c.1764+8371_1764+8372insACACACACACACACACACACA		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	21/24						chr8	TogoVar
ASPH_chr8_61495556_61719592	61574839	T T	TATAAAAA others(14): Show TATAAAAACAAACAAACAAAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	256	0.0039	21	c.114 others(40): Show c.1149+1932_1149+1933insTCTTTGTTTGTTTGTTTTTAT		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	16/24						chr8	TogoVar
ASPM_chr1_197079127_197151669	197145868	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18969.hp1 NA18972.hp1 others(1): Show NA18945.hp1 NA18969.hp1 NA18972.hp1 NA19006.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0017 a0004c0005t0003g0041 a0004c0005t0003g0042 a0004c0005t0003g0017 a0004c0005t0003g0041 a0004c0005t0003g0042	4	292	0.0137	21	c.297 others(36): Show c.297+272_297+273insATATATATATATATATATATA		ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	1/27						chr1	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02015.hp1 HG02145.hp1 others(6): Show HG00099.hp1 HG02015.hp1 HG02145.hp1 HG04199.hp1 HG04204.hp2 NA18940.hp2 NA18949.hp1 NA18965.hp1 NA19083.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0031	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0026 a0002c0002 a0013c0018 a0031c0038	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0026t0001 a0002c0002t0001 a0013c0018t0001 a0031c0038t0001	a0001c0001t0001g0009 a0001c0001t0001g0130 a0001c0003t0001g0014 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0130 a0001c0003t0001g0014 a0001c0008t0001g0097 a0001c0026t0001g0044 a0002c0002t0001g0145 a0002c0002t0001g0156 a0013c0018t0001g0035 a0031c0038t0001g0106	9	36	0.2500	21	c.-18 others(32): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTTTT		ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding					1665		chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 NA18522.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	2	289	0.0069	21	c.42 others(32): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTC		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					3637		chr2	TogoVar
ASPSCR1_chr17_81972629_82022406	81996335	C C	CGGGAGAG others(14): Show CGGGAGAGGGTGAGCCGGGGGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	364	0.0027	21	c.507 others(34): Show c.507-70_507-69insGGGGGTGGGAGAGGGTGAGCC		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
ASS1_chr9_130439961_130506274	130483775	T T	TCTCCCTT others(14): Show TCTCCCTTTCCTCCTCCCTCTC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	372	0.0027	21	c.838 others(38): Show c.838+3327_838+3347dupCTCCCTTTCCTCCTCCCTCTC		ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	177008580	A A	AAAGAAGA others(14): Show AAAGAAGAAGGAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0053 a0001c0001t0018g0053	1	110	0.0091	21	c.152 others(40): Show c.1523+6190_1523+6210dupCTCTTCCTCCTCCTTCTTCTT		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22						chr1	TogoVar
ASTN2_chr9_116418112_117420057	116453593	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0088 a0001c0009t0008g0088	1	23	0.0435	21	c.349 others(42): Show c.3498-11061_3498-11041dupTTTTTTTTTTTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116642145	A A	AAACAAAA others(14): Show AAACAAAACAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02572.hp1 others(4): Show HG01081.hp1 HG01891.hp2 HG02572.hp1 HG02615.hp1 HG03139.hp1 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0003t0007 a0001c0003t0014 a0001c0013t0009	a0001c0001t0003g0013 a0001c0001t0007g0078 a0001c0001t0009g0086 others(4): Show a0001c0001t0003g0013 a0001c0001t0007g0078 a0001c0001t0009g0086 a0001c0002t0002g0046 a0001c0003t0007g0071 a0001c0003t0014g0083 a0001c0013t0009g0072	7	97	0.0722	21	c.307 others(40): Show c.3072+9382_3072+9383insGTTTGTTTTTTTTGTTTTGTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp2 HG02615.hp2 others(1): Show HG01258.hp1 HG01258.hp2 HG02615.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0004t0002	a0001c0001t0002g0050 a0001c0002t0001g0067 a0001c0002t0002g0052 others(1): Show a0001c0001t0002g0050 a0001c0002t0001g0067 a0001c0002t0002g0052 a0002c0004t0002g0005	4	15	0.2667	21	c.188 others(42): Show c.1889+41208_1889+41228dupAAAAAAAAAAAAAAAAAAAAA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22						chr9	TogoVar
ASXL1_chr20_32353331_32444319	32378003	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18949.hp1 HG01175.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0002 a0001c0017t0010 a0001c0002t0002 a0001c0017t0010	a0001c0002t0002g0014 a0001c0017t0010g0245 a0001c0002t0002g0014 a0001c0017t0010g0245	2	277	0.0072	21	c.252 others(38): Show c.252+8880_252+8881insGTGTGTGTGTGTGTGTGTGTG		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12						chr20	TogoVar
ASXL3_chr18_33573219_33756195	33578458	C C	CCCGCCGC others(14): Show CCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0214 a0004c0004t0004g0214	1	43	0.0233	21	c.-15 others(30): Show c.-153_-133dupGCCGCCGCCGCCGCCGCCGCC		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/12				132	INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33590111	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0015 a0006c0010t0015	a0006c0010t0015g0168 a0006c0010t0015g0168	1	144	0.0069	21	c.54+ others(38): Show c.54+11445_54+11446insTTTTTTTTTTTTTTTTTTTTT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33676222	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18943.hp1 HG00280.hp1 NA18943.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0015 a0002c0002 a0013c0015	a0002c0002t0025 a0013c0015t0001 a0002c0002t0025 a0013c0015t0001	a0002c0002t0025g0052 a0013c0015t0001g0115 a0002c0002t0025g0052 a0013c0015t0001g0115	2	87	0.0230	21	c.715 others(38): Show c.715+4361_715+4381dupAAAAAAAAAAAAAAAAAAAAA		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(14): Show AAGGAAGGAAGAAAGGAAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	175	0.0057	21	c.66 others(32): Show c.6623_*6624insCCCTTTCCTTTCTTCCTTCCT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23808068	A A	AAGTAATT others(14): Show AAGTAATTATATATATAATTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01069.hp2 others(3): Show HG00140.hp1 HG00323.hp2 HG01069.hp2 HG01099.hp1 HG02129.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105	6	135	0.0444	21	c.245 others(40): Show c.2454+2247_2454+2248insATAATTATATATATAATTACT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	18/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878010	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0004 a0007c0009t0002g0004	1	174	0.0057	21	c.902 others(38): Show c.902-2107_902-2106insTTTTTTTTTTTTTTTTTTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	190	0.0053	21	c.902 others(38): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0160 a0001c0004t0013g0160	1	135	0.0074	21	c.164 others(40): Show c.1646+1524_1646+1525insATATATATATATATTTTTTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02602.hp1 HG02602.hp2 others(1): Show HG02280.hp2 HG02602.hp1 HG02602.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0117 a0001c0001t0001g0166 a0001c0002t0001g0165 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0166 a0001c0002t0001g0165 a0001c0002t0003g0013	4	50	0.0800	21	c.320 others(38): Show c.320+3417_320+3437dupTTTTTTTTTTTTTTTTTTTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27						chr8	TogoVar
ATAD3C_chr1_1444689_1475163	1469099	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0141 a0002c0002t0141	a0002c0002t0141g0018 a0002c0002t0141g0018	1	48	0.0208	21	c.58 others(30): Show c.586_*606dupAAAAAAAAAAAAAAAAAAAAA		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	12/12				607	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD5_chr17_30826966_30900869	30893656	A A	AGAAGAAA others(14): Show AGAAGAAAGCAAAACCGGAGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18973.hp2 NA18973.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0136 a0011c0014t0001g0136	1	284	0.0035	21	c.481 others(30): Show c.4816_4836dupACCGGAGACGAAGAAAGCAAA	p.Thr others(15): Show p.Thr1606_Lys1612dup	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	21/23	5219/6873	4837/5535	1613/1844		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATF3_chr1_212603761_212625775	212608596	C C	CCCCGCCT others(14): Show CCCCGCCTTGGCCCCTCCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	448	0.0022	21	c.-33 others(30): Show c.-339_-338insCCCGCCTTGGCCCCTCCTCCA		ATF3	ENSG00000162772.18	transcript	ENST00000341491.9	protein_coding					164		chr1	TogoVar
ATF3_chr1_212603761_212625775	212615272	T T	TCACAGGT others(14): Show TCACAGGTATTCATTCTTTCGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02258.hp2 others(2): Show HG01109.hp1 HG02258.hp1 HG02258.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0098 a0001c0001t0001g0022 a0001c0001t0001g0098	5	448	0.0112	21	c.240 others(34): Show c.240+16_240+36dupGGTATTCATTCTTTCGGCACA		ATF3	ENSG00000162772.18	transcript	ENST00000341491.9	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01167.hp1 others(2): Show HG00544.hp1 HG00673.hp2 HG01167.hp1 HG02451.hp1 NA18981.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0017 a0002c0002 a0013c0017	a0002c0002t0002 a0013c0017t0002 a0002c0002t0002 a0013c0017t0002	a0002c0002t0002g0001 a0013c0017t0002g0014 a0002c0002t0002g0001 a0013c0017t0002g0014	5	176	0.0284	21	c.13 others(32): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTTT		ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding					1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161829189	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0062 a0005c0008t0062	a0005c0008t0062g0325 a0005c0008t0062g0325	1	181	0.0055	21	c.118 others(40): Show c.1187+8033_1187+8053dupTTTTTTTTTTTTTTTTTTTTT		ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTCTTTTT others(14): Show CTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	2	0.5000	21	c.180 others(40): Show c.1804+7915_1804+7916insCTTTTTTTTTTTTTTTTTTTT		ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG02004.hp2 others(4): Show HG00733.hp2 HG01192.hp1 HG02004.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 others(4): Show a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0122 a0001c0001t0005g0125 a0001c0001t0014g0011	7	8	0.8750	21	c.180 others(40): Show c.1804+7932_1804+7933insTTTTTTTTTTTTTTTTTTTTT		ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7_chr12_53507054_53631382	53535328	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18989.hp2 NA18941.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0022 a0001c0001t0002g0023	2	251	0.0080	21	c.403 others(36): Show c.403-670_403-669insTTTTTTTTTTTTTTTTTTTTT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	5/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02723.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0232 a0001c0001t0001g0038 a0001c0001t0001g0232	2	206	0.0097	21	c.48+ others(38): Show c.48+13109_48+13110insATATATATATATATATATATA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp2 others(1): Show HG01099.hp1 HG01167.hp1 HG01169.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0098 a0001c0001t0001g0233 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0021g0104	4	208	0.0192	21	c.48+ others(38): Show c.48+13109_48+13110insAAATATATATATATATATATA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587844	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18971.hp2 NA19007.hp2 others(1): Show HG04228.hp2 NA18971.hp2 NA19007.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0280 a0001c0001t0001g0320 a0001c0001t0001g0321 others(1): Show a0001c0001t0001g0280 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0011g0084	4	244	0.0164	21	c.48+ others(38): Show c.48+13108_48+13109insTATATATATATATATATATAT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar

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