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	cds cds pos length	aa aa pos length	distance	status	chr	external
ADGRL4_chr1_78884764_79011730	78885268	GGAATTTT others(14): Show GGAATTTTAGGGTAATTCGAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA19043.hp2 NA20300.hp2 HG03540.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0017g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0017g0146	3	388	0.0077	-21	c.58 others(32): Show c.5865_*5885delGCTCGAATTACCCTAAAATTC		ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding				4495		chr1	TogoVar
ADGRL4_chr1_78884764_79011730	78892056	ATATATCT others(14): Show ATATATCTGTTAGGAAGTATTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	388	0.0026	-21	c.184 others(38): Show c.1842-385_1842-365delAAATACTTCCTAACAGATATA		ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	13/14					chr1	TogoVar
ADGRV1_chr5_90553797_91169437	90669612	GTGTTATT others(14): Show GTGTTATTGTGAAATGATAGAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18906.hp1 HG02896.hp2 NA18906.hp1	a0004 a0010 a0004 a0010	a0004c0071 a0010c0072 a0004c0071 a0010c0072	a0004c0071t0001 a0010c0072t0001 a0004c0071t0001 a0010c0072t0001	a0004c0071t0001g0007 a0010c0072t0001g0009 a0004c0071t0001g0007 a0010c0072t0001g0009	2	156	0.0128	-21	c.475 others(40): Show c.4753-2931_4753-2911delTTATTGTGAAATGATAGAATG		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	21/89				INFO_REALIGN_3_PRIME	chr5	TogoVar
ADH1C_chr4_99331497_99357746	99332231	TCTCTCTA others(14): Show TCTCTCTATTCTTCTCCTCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(339): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0006 a0004c0008 a0005c0009 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001 a0002c0004t0002 a0002c0006t0001 a0004c0008t0001 a0005c0009t0001 a0006c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(147): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0003g0074 a0001c0001t0004g0162 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0024 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0004t0002g0007 a0002c0004t0002g0008 a0002c0004t0002g0039 a0002c0004t0002g0040 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0043 a0002c0006t0001g0038 a0004c0008t0001g0148 a0005c0009t0001g0068 a0006c0007t0001g0123	342	358	0.9553	-21	c.45 others(32): Show c.4500_*4520delGGTGAGGAGAAGAATAGAGAG		ADH1C	ENSG00000248144.6	transcript	ENST00000515683.6	protein_coding				4265		chr4	TogoVar
ADIPOQ_chr3_186837710_186863463	186863246	CCCTCTCC others(14): Show CCCTCTCCCTCTCCCTCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0016 a0001c0001t0053g0016	1	478	0.0021	-21	c.85 others(32): Show c.8543_*8563delCCTCTCCCTCTCCCTCTCCCT		ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding				4784		chr3	TogoVar
ADK_chr10_74146221_74714290	74302090	GTTTTTTT others(14): Show GTTTTTTTTTTGTTTGTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	195	0.0051	-21	c.195 others(40): Show c.195-12566_195-12546delGTTTGTTTGTTTTTTTTTTTT		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74302109	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	121	0.0083	-21	c.195 others(40): Show c.195-12541_195-12521delTTTTTTTTTTTTTTTTTTTTT		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74347106	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00735.hp1 others(49): Show HG00280.hp2 HG00558.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp1 HG01884.hp2 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02109.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03239.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18957.hp1 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA19002.hp2 NA19011.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19086.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 others(49): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0111 a0001c0001t0002g0172 a0001c0001t0003g0055 a0001c0001t0003g0056 a0002c0003t0002g0058	52	63	0.8254	-21	c.273 others(40): Show c.273+32377_273+32397delAAAAAAAAAAAAAAAAAAAAA		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	4/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
ADNP2_chr18_80104262_80145346	80144762	ACATTGTA others(14): Show ACATTGTATTTACAGTGGTTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	386	0.0026	-21	c.59 others(32): Show c.5954_*5974delCATTGTATTTACAGTGGTTCT		ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding				4417		chr18	TogoVar
ADORA2B_chr17_15940130_15980746	15976089	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0248 a0002c0002t0003g0248	1	342	0.0029	-21	c.74 others(30): Show c.748_*768delAAAAAAAAAATATATATATAT		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding				344		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976091	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0147 a0002c0002t0003g0147	1	338	0.0030	-21	c.75 others(30): Show c.750_*770delAAAAAAAATATATATATATAT		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding				346		chr17	TogoVar
ADORA2B_chr17_15940130_15980746	15976095	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	334	0.0030	-21	c.75 others(30): Show c.754_*774delAAAATATATATATATATATAT		ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding				350		chr17	TogoVar
ADRA1B_chr5_159911482_159978012	159962364	CTGGTGCT others(14): Show CTGGTGCTGCCATCTGTCTGAG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18906.hp1 HG02056.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0317 a0001c0001t0017g0339 a0001c0001t0001g0317 a0001c0001t0017g0339	2	382	0.0052	-21	c.950 others(38): Show c.950-9501_950-9481delTGTCTGAGTGGTGCTGCCATC		ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1B_chr5_159911482_159978012	159962378	TGTCTGAG others(14): Show TGTCTGAGTGGTGCTGCCATCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(44): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01433.hp2 HG02015.hp1 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03492.hp1 HG03516.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18960.hp1 NA18964.hp1 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18991.hp1 NA18998.hp1 NA19010.hp2 NA19055.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19083.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 others(43): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0163 a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0279 a0001c0001t0002g0342 a0001c0001t0002g0362 a0001c0001t0010g0048 a0001c0002t0001g0064 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0122 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0173	47	382	0.1230	-21	c.950 others(38): Show c.950-9494_950-9474delGTGGTGCTGCCATCCGTCTGA		ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr5	TogoVar
ADSS2_chr1_244403494_244456909	244421030	GAGGGCCA others(14): Show GAGGGCCACGAGTTACACTGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(324): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(238): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0155 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0258 a0001c0001t0002g0300 a0001c0001t0003g0111 a0001c0001t0004g0009 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0085 a0001c0001t0004g0103 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0209 a0001c0001t0004g0256 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0005g0074 a0001c0001t0006g0259 a0001c0001t0009g0301 a0001c0001t0010g0302	327	406	0.8054	-21	c.664 others(36): Show c.664-755_664-735delGGCAGTGTAACTCGTGGCCCT		ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	7/12					chr1	TogoVar
AEBP1_chr7_44099345_44119560	44112970	TCTGTATC others(14): Show TCTGTATCTGTCCCCGGCCAGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19082.hp2 NA19082.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0042 a0014c0016t0001g0042	1	424	0.0024	-21	c.257 others(33): Show c.2570-20_2570delCTGTATCTGTCCCCGGCCAGC	p.Thr others(5): Show p.Thr857fs	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	19/21	2570/3477	857/1158			chr7	TogoVar
AEBP2_chr12_19434492_19527227	19524037	TCTCCCTC others(14): Show TCTCCCTCCCTCCCTCCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA20129.hp2 HG02896.hp2 HG02897.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122	3	402	0.0075	-21	c.59 others(32): Show c.5921_*5941delCTCCCTCCCTCCCTCCCTTCC		AEBP2	ENSG00000139154.16	transcript	ENST00000266508.14	protein_coding				1811		chr12	TogoVar
AFAP1_chr4_7753714_7944861	7795405	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp1 HG01943.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0156 a0001c0003t0002g0287 a0001c0003t0002g0156 a0001c0003t0002g0287	2	21	0.0952	-21	c.126 others(40): Show c.1267-1600_1267-1580delAAAAAAAAAAAAAAAAAAAAA		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	10/17					chr4	TogoVar
AFAP1_chr4_7753714_7944861	7808500	CTGCTCAA others(14): Show CTGCTCAAAGATGACCAAAAGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(46): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01952.hp1 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp2 HG06807.hp1 NA18954.hp2 NA18960.hp2 NA18980.hp1 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0010 a0001c0014 a0001c0015 a0001c0021 a0001c0022 a0001c0030 a0001c0031 a0001c0032 a0001c0036	a0001c0001t0010 a0001c0002t0024 a0001c0002t0034 others(23): Show a0001c0001t0010 a0001c0002t0024 a0001c0002t0034 a0001c0002t0048 a0001c0002t0069 a0001c0004t0006 a0001c0004t0007 a0001c0004t0008 a0001c0004t0011 a0001c0004t0062 a0001c0004t0065 a0001c0004t0066 a0001c0004t0068 a0001c0009t0009 a0001c0009t0041 a0001c0009t0042 a0001c0010t0012 a0001c0014t0015 a0001c0015t0006 a0001c0015t0037 a0001c0021t0006 a0001c0022t0024 a0001c0030t0038 a0001c0031t0071 a0001c0032t0009 a0001c0036t0060	a0001c0001t0010g0041 a0001c0002t0024g0291 a0001c0002t0034g0268 others(46): Show a0001c0001t0010g0041 a0001c0002t0024g0291 a0001c0002t0034g0268 a0001c0002t0034g0292 a0001c0002t0048g0273 a0001c0002t0069g0265 a0001c0004t0006g0014 a0001c0004t0006g0020 a0001c0004t0006g0063 a0001c0004t0006g0075 a0001c0004t0006g0076 a0001c0004t0006g0211 a0001c0004t0006g0240 a0001c0004t0006g0260 a0001c0004t0006g0261 a0001c0004t0006g0296 a0001c0004t0006g0299 a0001c0004t0007g0302 a0001c0004t0008g0237 a0001c0004t0008g0238 a0001c0004t0008g0275 a0001c0004t0008g0293 a0001c0004t0008g0295 a0001c0004t0008g0300 a0001c0004t0011g0253 a0001c0004t0011g0270 a0001c0004t0011g0280 a0001c0004t0011g0283 a0001c0004t0011g0301 a0001c0004t0062g0242 a0001c0004t0065g0200 a0001c0004t0066g0241 a0001c0004t0068g0243 a0001c0009t0009g0246 a0001c0009t0009g0276 a0001c0009t0009g0277 a0001c0009t0009g0278 a0001c0009t0041g0202 a0001c0009t0042g0229 a0001c0010t0012g0004 a0001c0014t0015g0194 a0001c0015t0006g0139 a0001c0015t0037g0050 a0001c0021t0006g0282 a0001c0022t0024g0135 a0001c0030t0038g0259 a0001c0031t0071g0313 a0001c0032t0009g0267 a0001c0036t0060g0136	49	316	0.1551	-21	c.105 others(40): Show c.1054+1093_1054+1113delCCTTTTGGTCATCTTTGAGCA		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	9/17					chr4	TogoVar
AFF2_chrX_148495617_149005663	148500616	CGCCGCCG others(14): Show CGCCGCCGCCTGTGCAGCCGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0082 a0001c0001t0021g0082	1	167	0.0060	-21	c.-47 others(30): Show c.-472_-452delTGTGCAGCCGCTGCCGCCGCC		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/21			452	INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148795825	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0121 a0001c0001t0008g0121	1	167	0.0060	-21	c.104 others(42): Show c.1042-14049_1042-14029delAAAAAAATATATATATATATA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20				INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148795829	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02615.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0046 a0001c0002t0032 a0001c0001t0046 a0001c0002t0032	a0001c0001t0046g0123 a0001c0002t0032g0148 a0001c0001t0046g0123 a0001c0002t0032g0148	2	164	0.0122	-21	c.104 others(42): Show c.1042-14045_1042-14025delAAATATATATATATATATATA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20				INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	99633221	ACATCAGG others(14): Show ACATCAGGCACCGTACACGTGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0029 a0002c0002t0005g0029	1	98	0.0102	-21	c.118 others(42): Show c.1184+16384_1184+16404delGCACGTGTACGGTGCCTGATG		AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	13/24					chr2	TogoVar
AFG3L2_chr18_12323944_12382227	12381297	CTAAAAAA others(14): Show CTAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	313	0.0032	-21	c.-42 others(32): Show c.-4236_-4216delTTTTTTTTTTTTTTTTTTTTA		AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding				4071		chr18	TogoVar
AFTPH_chr2_64519328_64598005	64545570	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02572.hp2 others(7): Show HG02055.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02922.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0010t0016 a0002c0002t0001 a0002c0010t0016	a0002c0002t0001g0004 a0002c0002t0001g0312 a0002c0002t0001g0313 others(6): Show a0002c0002t0001g0004 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0010t0016g0317	10	32	0.3125	-21	c.-32 others(38): Show c.-32-5851_-32-5831delAAAAAAAAAAAAAAAAAAAAA		AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	1/9				INFO_REALIGN_3_PRIME	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64576110	CACACACA others(14): Show CACACACACGTGTGTCATACAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0017 a0010c0013t0017	a0010c0013t0017g0268 a0010c0013t0017g0268	1	370	0.0027	-21	c.239 others(40): Show c.2394+3044_2394+3064delCACACACGTGTGTCATACAAA		AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	6/9				INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235516055	TCTGCTGC others(14): Show TCTGCTGCTGCTGCTGCTGCTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG00741.hp1 HG01106.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0046 a0002c0004t0045 a0001c0006t0046 a0002c0004t0045	a0001c0006t0046g0040 a0002c0004t0045g0039 a0001c0006t0046g0040 a0002c0004t0045g0039	2	38	0.0526	-21	c.163 others(40): Show c.163+21225_163+21245delCTGCTGCTGCTGCTGCTGCTG		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17				INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235677906	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0046 a0001c0006t0046	a0001c0006t0046g0040 a0001c0006t0046g0040	1	2	0.5000	-21	c.164 others(40): Show c.164-31242_164-31222delAAAAAAAAAAAAAAAAAAAAA		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17				INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235686644	TAGATATA others(14): Show TAGATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0032 a0001c0010t0001g0032	1	97	0.0103	-21	c.164 others(40): Show c.164-22534_164-22514delAGATATATATATATATATATA		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17					chr2	TogoVar
AGAP1_chr2_235489043_236136793	235784514	AAATTAGG others(14): Show AAATTAGGTTTAGATCCCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 NA18906.hp1 others(1): Show HG02145.hp1 HG03195.hp2 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0010 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0010 a0001c0002t0001 a0001c0008t0001 a0001c0008t0028	a0001c0001t0010g0014 a0001c0002t0001g0013 a0001c0008t0001g0061 others(1): Show a0001c0001t0010g0014 a0001c0002t0001g0013 a0001c0008t0001g0061 a0001c0008t0028g0029	4	98	0.0408	-21	c.674 others(40): Show c.674-13239_674-13219delGGTTTAGATCCCTTTTAATTA		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	6/17				INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235821511	GTAGCCGG others(14): Show GTAGCCGGGACTACAGGGAACT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0079 a0003c0015t0002g0079	1	98	0.0102	-21	c.105 others(42): Show c.1050+14182_1050+14202delAGCCGGGACTACAGGGAACTT		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	9/17				INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236039724	GGAAAGGG others(14): Show GGAAAGGGCAGGTTTCTATGCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02818.hp2 others(7): Show HG02572.hp2 HG02647.hp2 HG02818.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0014 a0001c0018 a0001c0019	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0005t0004 a0001c0008t0001 a0001c0014t0016 a0001c0018t0049 a0001c0019t0007	a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0003g0036 others(7): Show a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0003g0036 a0001c0002t0001g0004 a0001c0002t0004g0077 a0001c0005t0004g0088 a0001c0008t0001g0061 a0001c0014t0016g0048 a0001c0018t0049g0080 a0001c0019t0007g0056	10	98	0.1020	-21	c.180 others(40): Show c.1801-1025_1801-1005delAAAGGGCAGGTTTCTATGCAG		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	14/17				INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86250525	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02280.hp2 others(2): Show HG02145.hp1 HG02145.hp2 HG02280.hp2 HG03139.hp2 HG03710.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0032 a0007c0016	a0001c0001t0001 a0001c0002t0016 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0002t0016 a0001c0008t0001 a0001c0032t0009 a0007c0016t0039	a0001c0001t0001g0101 a0001c0002t0016g0001 a0001c0008t0001g0006 others(2): Show a0001c0001t0001g0101 a0001c0002t0016g0001 a0001c0008t0001g0006 a0001c0032t0009g0100 a0007c0016t0039g0130	5	13	0.3846	-21	c.735 others(38): Show c.735+2674_735+2694delAAAAAAAAAAAAAAAAAAAAA		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	7/22				INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86291374	AGAGACAC others(14): Show AGAGACACATACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02895.hp1 HG01243.hp1 HG02280.hp1 HG02895.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0033 a0001c0001 a0009c0033	a0001c0001t0008 a0001c0001t0047 a0009c0033t0006 a0001c0001t0008 a0001c0001t0047 a0009c0033t0006	a0001c0001t0008g0106 a0001c0001t0047g0014 a0009c0033t0006g0112 a0001c0001t0008g0106 a0001c0001t0047g0014 a0009c0033t0006g0112	3	132	0.0227	-21	c.222 others(40): Show c.2221-3880_2221-3860delGAGACACATACACACACACAC		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22					chr15	TogoVar
AGBL1_chr15_86074871_86921156	86625364	CGTTTTTT others(14): Show CGTTTTTTTTTTTTTGTTTTTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02559.hp1 others(3): Show HG02145.hp1 HG02257.hp2 HG02559.hp1 HG02738.hp2 HG02976.hp2 NA18522.hp1	a0001 a0006 a0015 a0001 a0006 a0015	a0001c0010 a0001c0019 a0001c0032 others(3): Show a0001c0010 a0001c0019 a0001c0032 a0001c0042 a0006c0030 a0015c0054	a0001c0010t0015 a0001c0019t0001 a0001c0032t0009 others(3): Show a0001c0010t0015 a0001c0019t0001 a0001c0032t0009 a0001c0042t0005 a0006c0030t0010 a0015c0054t0010	a0001c0010t0015g0009 a0001c0019t0001g0057 a0001c0032t0009g0100 others(3): Show a0001c0010t0015g0009 a0001c0019t0001g0057 a0001c0032t0009g0100 a0001c0042t0005g0092 a0006c0030t0010g0002 a0015c0054t0010g0061	6	93	0.0645	-21	c.299 others(42): Show c.2995-48908_2995-48888delGTTTTTTTTTTTTTGTTTTTG		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22					chr15	TogoVar
AGBL1_chr15_86074871_86921156	86695908	GGTTCCTT others(14): Show GGTTCCTTTTGGAGTTGATTTC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp2 NA19043.hp2 HG02647.hp1 HG03209.hp2 NA19043.hp2	a0004 a0008 a0022 a0004 a0008 a0022	a0004c0020 a0008c0017 a0022c0027 a0004c0020 a0008c0017 a0022c0027	a0004c0020t0012 a0008c0017t0012 a0022c0027t0032 a0004c0020t0012 a0008c0017t0012 a0022c0027t0032	a0004c0020t0012g0073 a0008c0017t0012g0090 a0022c0027t0032g0116 a0004c0020t0012g0073 a0008c0017t0012g0090 a0022c0027t0032g0116	3	132	0.0227	-21	c.315 others(42): Show c.3158+21473_3158+21493delGTTCCTTTTGGAGTTGATTTC		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22					chr15	TogoVar
AGBL1_chr15_86074871_86921156	86748510	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03139.hp2 HG01255.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0101 a0001c0001t0003g0104 a0001c0001t0001g0101 a0001c0001t0003g0104	2	13	0.1538	-21	c.315 others(42): Show c.3158+74090_3158+74110delTTTTTTTTTTTTTTTTTTTTT		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22				INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86870454	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp2 NA20129.hp1 HG00544.hp2 HG02055.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0012 a0001c0056 a0004c0009 a0001c0012 a0001c0056 a0004c0009	a0001c0012t0041 a0001c0056t0031 a0004c0009t0049 a0001c0012t0041 a0001c0056t0031 a0004c0009t0049	a0001c0012t0041g0062 a0001c0056t0031g0055 a0004c0009t0049g0071 a0001c0012t0041g0062 a0001c0056t0031g0055 a0004c0009t0049g0071	3	14	0.2143	-21	c.315 others(42): Show c.3159-36611_3159-36591delAAAAAAAAAAAAAAAAAAAAA		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22				INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	48693117	CAAAGCTC others(14): Show CAAAGCTCTTGGTTGCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	104	0.0096	-21	c.635 others(40): Show c.635-29897_635-29877delAAGAAAGCAACCAAGAGCTTT		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13					chr1	TogoVar
AGBL4_chr1_48527854_50028954	49434687	GTGGTGGT others(14): Show GTGGTGGTGGTGGTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0004 a0001c0002t0009g0004	1	104	0.0096	-21	c.283 others(42): Show c.283-188844_283-188824delGCACCACCACCACCACCACCA		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13					chr1	TogoVar
AGBL4_chr1_48527854_50028954	49476293	TTTTAAAT others(14): Show TTTTAAATTCACTGAGACTTGC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18970.hp2 HG03710.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0030 a0001c0001t0006g0025 a0001c0001t0001g0030 a0001c0001t0006g0025	2	104	0.0192	-21	c.282 others(42): Show c.282+220999_282+221019delGCAAGTCTCAGTGAATTTAAA		AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13					chr1	TogoVar
AGFG2_chr7_100534203_100573220	100570843	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03041.hp1 others(3): Show HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0001c0001t0001 a0001c0001t0002 a0002c0002t0004	a0001c0001t0001g0073 a0001c0001t0001g0125 a0001c0001t0002g0153 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0125 a0001c0001t0002g0153 a0002c0002t0004g0064 a0002c0002t0004g0105 a0002c0002t0004g0106	6	78	0.0769	-21	c.58 others(32): Show c.5853_*5873delAAAAAAAAAAAAAAAAAAAAA		AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding				2624		chr7	TogoVar
AGMO_chr7_15195317_15567015	15548906	CAGCCAGA others(14): Show CAGCCAGAGAGAAAGGTCGGGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp1 HG02486.hp1 HG03139.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0003 a0006c0012t0001 a0006c0012t0003	a0006c0012t0001g0222 a0006c0012t0003g0223 a0006c0012t0001g0222 a0006c0012t0003g0223	2	234	0.0085	-21	c.258 others(38): Show c.258-4004_258-3984delACCCGACCTTTCTCTCTGGCT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	2/12					chr7	TogoVar
AGO2_chr8_140515156_140640633	140612220	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00741.hp1 others(51): Show HG00621.hp2 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02132.hp1 HG02145.hp2 HG02293.hp2 HG02300.hp2 HG02615.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18951.hp1 NA18963.hp1 NA18970.hp2 NA18971.hp2 NA18998.hp2 NA19043.hp2 NA19060.hp1 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(36): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0022 a0001c0001t0024 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0047 a0001c0001t0050 a0001c0001t0073 a0001c0001t0074 a0001c0001t0092 a0001c0001t0100 a0001c0001t0104 a0001c0001t0108 a0001c0001t0109 a0001c0001t0124 a0001c0001t0131 a0001c0001t0136 a0001c0002t0002 a0001c0002t0080 a0001c0002t0082 a0001c0002t0085 a0001c0002t0086 a0001c0003t0013 a0001c0003t0017 a0001c0003t0018 a0001c0003t0033 a0001c0003t0062 a0001c0004t0004 a0001c0004t0093 a0001c0004t0140 a0001c0005t0007 a0001c0006t0042 a0001c0006t0135 a0001c0010t0002 a0001c0016t0096	a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0118 others(50): Show a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0265 a0001c0001t0001g0286 a0001c0001t0004g0135 a0001c0001t0005g0258 a0001c0001t0009g0005 a0001c0001t0009g0116 a0001c0001t0022g0181 a0001c0001t0024g0002 a0001c0001t0039g0122 a0001c0001t0039g0125 a0001c0001t0040g0138 a0001c0001t0040g0139 a0001c0001t0045g0149 a0001c0001t0047g0113 a0001c0001t0050g0003 a0001c0001t0073g0144 a0001c0001t0074g0128 a0001c0001t0092g0057 a0001c0001t0100g0141 a0001c0001t0104g0111 a0001c0001t0108g0120 a0001c0001t0109g0121 a0001c0001t0124g0110 a0001c0001t0131g0266 a0001c0001t0136g0140 a0001c0002t0002g0119 a0001c0002t0002g0148 a0001c0002t0080g0086 a0001c0002t0082g0134 a0001c0002t0085g0179 a0001c0002t0086g0180 a0001c0003t0013g0016 a0001c0003t0017g0136 a0001c0003t0018g0066 a0001c0003t0033g0075 a0001c0003t0062g0209 a0001c0004t0004g0137 a0001c0004t0093g0278 a0001c0004t0140g0336 a0001c0005t0007g0017 a0001c0006t0042g0133 a0001c0006t0135g0230 a0001c0010t0002g0281 a0001c0016t0096g0123	54	71	0.7606	-21	c.22+ others(38): Show c.22+23244_22+23264delTTTTTTTTTTTTTTTTTTTTT		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18					chr8	TogoVar
AGRN_chr1_1015120_1061116	1026045	CGGGTTGG others(14): Show CGGGTTGGTCAGTTCTGTGGAG	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	208	0.0048	-21	c.463 others(38): Show c.463+3584_463+3604delGGGTTGGTCAGTTCTGTGGAG		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35					chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246864846	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	286	0.0035	-21	c.334 others(38): Show c.3348-751_3348-731delTTTTTTTTTTTTTTTTTTTTT		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	26/35					chr1	TogoVar
AHI1_chr6_135278532_135502740	135328482	GGTGCCAT others(14): Show GGTGCCATAAACCATAGCCATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00609.hp2 others(75): Show HG00323.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02293.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp1 NA18978.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19084.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0009	a0001c0001 a0003c0005 a0004c0008 others(2): Show a0001c0001 a0003c0005 a0004c0008 a0007c0011 a0009c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0003c0005t0001 a0004c0008t0001 a0007c0011t0001 a0009c0022t0001	a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0053 others(75): Show a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0139 a0001c0001t0001g0169 a0001c0001t0001g0220 a0001c0001t0002g0074 a0001c0001t0002g0099 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0004g0197 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0009g0069 a0001c0001t0009g0085 a0001c0001t0016g0056 a0003c0005t0001g0097 a0003c0005t0001g0108 a0003c0005t0001g0109 a0004c0008t0001g0068 a0004c0008t0001g0090 a0007c0011t0001g0059 a0009c0022t0001g0093	78	218	0.3578	-21	c.316 others(40): Show c.3166-5179_3166-5159delTATGGCTATGGTTTATGGCAC		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28					chr6	TogoVar
AHI1_chr6_135278532_135502740	135376881	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0010 a0001c0021t0010	a0001c0021t0010g0181 a0001c0021t0010g0181	1	36	0.0278	-21	c.310 others(42): Show c.3109+17874_3109+17894delTTTTTTTTTTTTTTTTTTTTT		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28					chr6	TogoVar
AHRR_chr5_316714_443285	443229	GGGCGGCG others(14): Show GGGCGGCGGCGGCGGCGGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(129): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18983.hp2 NA18998.hp2 NA19043.hp1 NA19058.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0002c0002 a0002c0011 others(13): Show a0001c0001 a0002c0002 a0002c0011 a0002c0019 a0004c0003 a0005c0005 a0006c0006 a0007c0007 a0008c0016 a0009c0020 a0011c0013 a0012c0014 a0013c0018 a0014c0012 a0015c0021 a0016c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(55): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0032 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0019 a0002c0002t0026 a0002c0002t0042 a0002c0002t0043 a0002c0002t0048 a0002c0002t0050 a0002c0002t0051 a0002c0011t0001 a0002c0019t0001 a0004c0003t0007 a0004c0003t0009 a0004c0003t0010 a0004c0003t0012 a0004c0003t0013 a0004c0003t0018 a0004c0003t0022 a0004c0003t0023 a0004c0003t0024 a0004c0003t0027 a0004c0003t0033 a0004c0003t0034 a0005c0005t0008 a0005c0005t0014 a0005c0005t0038 a0005c0005t0039 a0006c0006t0021 a0006c0006t0030 a0006c0006t0031 a0007c0007t0007 a0007c0007t0023 a0008c0016t0014 a0009c0020t0001 a0011c0013t0001 a0012c0014t0020 a0013c0018t0017 a0014c0012t0020 a0015c0021t0019 a0016c0022t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0141 others(129): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0003g0138 a0001c0001t0007g0030 a0001c0001t0007g0219 a0001c0001t0009g0031 a0001c0001t0012g0148 a0001c0001t0012g0154 a0001c0001t0012g0254 a0001c0001t0017g0035 a0001c0001t0017g0264 a0001c0001t0018g0088 a0001c0001t0018g0106 a0001c0001t0022g0222 a0001c0001t0024g0032 a0001c0001t0027g0153 a0001c0001t0032g0226 a0001c0001t0044g0026 a0001c0001t0045g0252 a0001c0001t0047g0143 a0001c0001t0049g0155 a0002c0002t0001g0010 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0053 a0002c0002t0001g0059 a0002c0002t0001g0067 a0002c0002t0001g0075 a0002c0002t0001g0091 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0121 a0002c0002t0001g0130 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0216 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0006g0007 a0002c0002t0006g0020 a0002c0002t0006g0047 a0002c0002t0006g0076 a0002c0002t0006g0085 a0002c0002t0006g0090 a0002c0002t0006g0120 a0002c0002t0006g0144 a0002c0002t0006g0218 a0002c0002t0007g0028 a0002c0002t0007g0249 a0002c0002t0010g0015 a0002c0002t0010g0081 a0002c0002t0010g0145 a0002c0002t0011g0022 a0002c0002t0011g0040 a0002c0002t0011g0162 a0002c0002t0011g0197 a0002c0002t0011g0214 a0002c0002t0019g0009 a0002c0002t0026g0119 a0002c0002t0026g0136 a0002c0002t0042g0166 a0002c0002t0043g0046 a0002c0002t0048g0160 a0002c0002t0050g0101 a0002c0002t0051g0194 a0002c0011t0001g0084 a0002c0019t0001g0134 a0004c0003t0007g0220 a0004c0003t0007g0244 a0004c0003t0009g0223 a0004c0003t0009g0225 a0004c0003t0009g0227 a0004c0003t0009g0229 a0004c0003t0009g0243 a0004c0003t0010g0157 a0004c0003t0012g0150 a0004c0003t0013g0221 a0004c0003t0013g0232 a0004c0003t0013g0233 a0004c0003t0013g0248 a0004c0003t0018g0102 a0004c0003t0022g0247 a0004c0003t0023g0230 a0004c0003t0024g0029 a0004c0003t0027g0099 a0004c0003t0033g0242 a0004c0003t0034g0235 a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0008g0108 a0005c0005t0014g0116 a0005c0005t0014g0147 a0005c0005t0014g0180 a0005c0005t0038g0024 a0005c0005t0039g0250 a0006c0006t0021g0245 a0006c0006t0021g0246 a0006c0006t0030g0231 a0006c0006t0031g0239 a0007c0007t0007g0238 a0007c0007t0023g0224 a0008c0016t0014g0189 a0009c0020t0001g0170 a0011c0013t0001g0021 a0012c0014t0020g0034 a0013c0018t0017g0265 a0014c0012t0020g0236 a0015c0021t0019g0110 a0016c0022t0001g0023	132	178	0.7416	-21	c.83 others(32): Show c.8396_*8416delGGCGGCGGCGGCGGCGGCGGC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding				4945		chr5	TogoVar
AIFM2_chr10_70107271_70137825	70133131	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01261.hp1 others(2): Show HG00280.hp1 HG00741.hp2 HG01261.hp1 HG03688.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0006t0006 a0003c0003t0004 a0001c0001t0001 a0001c0006t0006 a0003c0003t0004	a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0213 a0001c0006t0006g0206 a0003c0003t0004g0139	5	466	0.0107	-21	c.-43 others(30): Show c.-432_-412delCTCTCTCTCTCTCTCTCTCTC		AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding				307		chr10	TogoVar

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