Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP6V1H_chr8_53710543_53848245	53755717	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0198 a0001c0001t0006g0198	1	283	0.0035	-25	c.127 others(42): Show c.1277+813_1277+837delTATATATATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP8B1_chr18_57641426_57808315	57753937	AAAAAAAA others(18): Show AAAAAAAAAAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(58): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18942.hp2 NA18952.hp1 NA18964.hp1 NA18968.hp1 NA18979.hp1 NA18994.hp1 NA19004.hp1 NA19030.hp2 NA19065.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0005 a0001c0016 others(2): Show a0001c0001 a0001c0005 a0001c0016 a0003c0003 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0041 a0001c0005t0045 a0001c0016t0008 a0003c0003t0022 a0006c0017t0010	a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0059 others(58): Show a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0133 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0256 a0001c0001t0002g0289 a0001c0001t0002g0298 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0303 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0055 a0001c0001t0004g0063 a0001c0001t0004g0081 a0001c0001t0004g0094 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0005g0013 a0001c0001t0005g0132 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0106 a0001c0001t0007g0212 a0001c0001t0007g0247 a0001c0001t0007g0252 a0001c0001t0007g0280 a0001c0001t0008g0142 a0001c0001t0010g0143 a0001c0001t0010g0146 a0001c0001t0010g0170 a0001c0001t0010g0176 a0001c0001t0011g0147 a0001c0001t0011g0154 a0001c0001t0011g0172 a0001c0001t0011g0181 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0013g0294 a0001c0001t0015g0163 a0001c0001t0015g0166 a0001c0001t0018g0296 a0001c0001t0018g0297 a0001c0001t0020g0165 a0001c0001t0020g0171 a0001c0001t0023g0167 a0001c0001t0023g0168 a0001c0001t0027g0310 a0001c0001t0029g0092 a0001c0001t0041g0192 a0001c0005t0045g0278 a0001c0016t0008g0123 a0003c0003t0022g0135 a0006c0017t0010g0155	61	312	0.1955	-25	c.-25 others(44): Show c.-25-22130_-25-22106delCTTTTCTTTCTTTCTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00673.hp1 others(31): Show HG00438.hp1 HG00621.hp1 HG00673.hp1 HG01070.hp2 HG01175.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG03098.hp1 HG03579.hp2 HG04115.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18966.hp2 NA18994.hp1 NA19030.hp1 NA19043.hp2 NA19063.hp2 NA19064.hp2 NA20300.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0004c0016	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 others(7): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0030 a0001c0001t0033 a0001c0002t0032 a0001c0003t0002 a0001c0014t0002 a0001c0014t0015 a0004c0016t0015	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0040 others(31): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0009g0046 a0001c0001t0009g0047 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0015g0005 a0001c0001t0030g0143 a0001c0001t0033g0094 a0001c0002t0032g0032 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0014t0002g0170 a0001c0014t0002g0174 a0001c0014t0015g0001 a0004c0016t0015g0166	34	39	0.8718	-25	c.386 others(44): Show c.3864-3371_3864-3347delTTTTTTTTTTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02970.hp1 others(6): Show HG02572.hp1 HG02818.hp1 HG02970.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA18970.hp2 NA19076.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0130 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0009g0133 a0001c0001t0014g0077	9	13	0.6923	-25	c.117 others(46): Show c.1173+12863_1173+12887delTTTTTTTTTTTTTTTTTTTTTTTT T	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795354	GATTCTAT others(18): Show GATTCTATTCTATTCTATTCTATTCT	G G	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19078.hp1 NA18985.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0148 a0001c0001t0001g0151	2	122	0.0164	-25	c.117 others(46): Show c.1174-11559_1174-11535delATTCTATTCTATTCTATTCTATTC T	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45819192	AAATAGAA others(18): Show AAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02922.hp1 HG03130.hp2 HG02300.hp1 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0270 a0001c0001t0001g0296 a0001c0001t0001g0249 a0001c0001t0001g0270 a0001c0001t0001g0296	3	46	0.0652	-25	c.123 others(46): Show c.1237+12206_1237+12230delAATAGAATAGAATAGAATAGAATA G	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN2_chr12_111447214_111604315	111531424	GTCTCAAA others(18): Show GTCTCAAAAAATAAATAAATAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	295	0.0034	-25	c.572 others(42): Show c.572-6133_572-6109delTTTTTTATTTATTTATTTTTTGAGA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	5/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105662062	CCTTCCTT others(18): Show CCTTCCTTCCTTCCTTCCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0114 a0001c0001t0024g0114	1	250	0.0040	-25	c.578 others(42): Show c.578+2979_578+3003delAGAAAGAAGGAAGGAAGGAAGGAAG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662063	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0113 a0001c0001t0015g0113	1	245	0.0041	-25	c.578 others(42): Show c.578+2978_578+3002delAAGAAAGAAGGAAGGAAGGAAGGAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69640184	AAATGTCT others(18): Show AAATGTCTGCAGACTTTACTGTGATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(25): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG00741.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG02055.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 NA18612.hp1 NA18952.hp1 NA19030.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0025 a0001c0003t0008 a0001c0008t0017 a0002c0002t0001 a0002c0002t0024 a0005c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 others(25): Show a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0010g0065 a0001c0001t0011g0041 a0001c0001t0021g0060 a0001c0001t0025g0050 a0001c0003t0008g0039 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0024g0059 a0005c0009t0001g0043	28	76	0.3684	-25	c.309 others(44): Show c.309+40224_309+40248delATGTCTGCAGACTTTACTGTGATCA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70224331	GTACAATA others(18): Show GTACAATACAATACAATACAATACAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01433.hp1 others(10): Show HG00741.hp1 HG01243.hp2 HG01433.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0023 a0001c0001t0035 a0001c0003t0008 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006	a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 others(10): Show a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0072 a0001c0001t0006g0010 a0001c0001t0007g0040 a0001c0001t0019g0076 a0001c0001t0023g0075 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0007t0006g0027	13	23	0.5652	-25	c.660 others(44): Show c.660+89808_660+89832delCAATACAATACAATACAATACAATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33909940	CCAAATAC others(18): Show CCAAATACAAAAAATTACACAAAATA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG02723.hp1 others(6): Show HG01255.hp1 HG01884.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03453.hp1 HG03540.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0010 a0001c0001 a0004c0004 a0007c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0004c0004t0001 a0007c0010t0001	a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 others(6): Show a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0004g0109 a0001c0001t0005g0095 a0004c0004t0001g0016 a0007c0010t0001g0021	9	264	0.0341	-25	c.446 others(44): Show c.446-33970_446-33946delTATTTTGTGTAATTTTTTGTATTTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00621.hp2 others(60): Show HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp2 NA18948.hp1 NA18966.hp1 NA18968.hp1 NA18984.hp2 NA18988.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0002c0012	a0001c0001t0008 a0001c0001t0086 a0001c0002t0002 others(27): Show a0001c0001t0008 a0001c0001t0086 a0001c0002t0002 a0001c0004t0015 a0001c0004t0025 a0001c0004t0034 a0001c0004t0039 a0001c0004t0065 a0001c0004t0078 a0001c0004t0092 a0002c0003t0005 a0002c0003t0009 a0002c0003t0012 a0002c0003t0018 a0002c0003t0024 a0002c0003t0027 a0002c0003t0038 a0002c0003t0061 a0002c0003t0062 a0002c0003t0063 a0002c0003t0064 a0002c0003t0066 a0002c0003t0082 a0002c0003t0083 a0002c0003t0090 a0002c0003t0091 a0002c0003t0099 a0002c0003t0106 a0002c0005t0021 a0002c0012t0005	a0001c0001t0008g0162 a0001c0001t0086g0174 a0001c0002t0002g0152 others(60): Show a0001c0001t0008g0162 a0001c0001t0086g0174 a0001c0002t0002g0152 a0001c0004t0015g0118 a0001c0004t0015g0120 a0001c0004t0015g0122 a0001c0004t0015g0161 a0001c0004t0025g0123 a0001c0004t0025g0166 a0001c0004t0025g0167 a0001c0004t0034g0119 a0001c0004t0039g0124 a0001c0004t0039g0125 a0001c0004t0065g0121 a0001c0004t0078g0126 a0001c0004t0092g0153 a0002c0003t0005g0116 a0002c0003t0005g0129 a0002c0003t0005g0135 a0002c0003t0005g0138 a0002c0003t0005g0140 a0002c0003t0005g0141 a0002c0003t0005g0147 a0002c0003t0005g0156 a0002c0003t0005g0170 a0002c0003t0005g0172 a0002c0003t0009g0003 a0002c0003t0009g0132 a0002c0003t0009g0134 a0002c0003t0009g0137 a0002c0003t0009g0169 a0002c0003t0009g0325 a0002c0003t0012g0115 a0002c0003t0012g0127 a0002c0003t0012g0130 a0002c0003t0012g0155 a0002c0003t0012g0159 a0002c0003t0012g0160 a0002c0003t0018g0112 a0002c0003t0018g0139 a0002c0003t0018g0143 a0002c0003t0018g0168 a0002c0003t0024g0128 a0002c0003t0024g0148 a0002c0003t0024g0164 a0002c0003t0027g0117 a0002c0003t0027g0144 a0002c0003t0027g0145 a0002c0003t0038g0149 a0002c0003t0038g0158 a0002c0003t0061g0163 a0002c0003t0062g0003 a0002c0003t0063g0146 a0002c0003t0064g0136 a0002c0003t0066g0173 a0002c0003t0082g0133 a0002c0003t0083g0131 a0002c0003t0090g0150 a0002c0003t0091g0165 a0002c0003t0099g0192 a0002c0003t0106g0021 a0002c0005t0021g0154 a0002c0012t0005g0157	63	64	0.9844	-25	c.94- others(40): Show c.94-2249_94-2225delTTTTTTTTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678773	AAACTCCT others(18): Show AAACTCCTGGCCTCAAGTGATCCTCC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	444	0.0023	-25	c.288 others(40): Show c.288-773_288-749delGGAGGATCACTTGAGGCCAGGAGTT	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678879	GGGTGTGT others(18): Show GGGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	440	0.0023	-25	c.287 others(40): Show c.287+715_287+739delACACACACACACACACACACACACC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678910	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	355	0.0028	-25	c.287 others(40): Show c.287+684_287+708delCACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXDND1_chr1_179360971_179559735	179488632	CTCCTTTC others(18): Show CTCCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02615.hp1 HG02080.hp2 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0001c0007 a0002c0001	a0001c0007t0001 a0002c0001t0001 a0001c0007t0001 a0002c0001t0001	a0001c0007t0001g0200 a0002c0001t0001g0133 a0001c0007t0001g0200 a0002c0001t0001g0133	2	278	0.0072	-25	c.209 others(44): Show c.2092-2903_2092-2879delCTTTCTTTCTTTCTTTCTTTCTTTC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXL_chr19_41214223_41266766	41239570	TTCACTCC others(18): Show TTCACTCCCTTACTCGTGCCACACCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01167.hp2 others(38): Show HG00323.hp1 HG00423.hp2 HG01167.hp2 HG01169.hp2 HG01361.hp1 HG01891.hp2 HG01928.hp1 HG02027.hp1 HG02080.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03942.hp2 HG04204.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18952.hp1 NA18957.hp2 NA18966.hp1 NA18970.hp2 NA18977.hp1 NA18984.hp2 NA18986.hp2 NA19010.hp1 NA19030.hp2 NA19067.hp1 NA19079.hp2 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0035 a0001c0001t0039 a0001c0001t0048	a0001c0001t0004g0014 a0001c0001t0004g0131 a0001c0001t0004g0136 others(37): Show a0001c0001t0004g0014 a0001c0001t0004g0131 a0001c0001t0004g0136 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0156 a0001c0001t0004g0164 a0001c0001t0004g0202 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0266 a0001c0001t0004g0276 a0001c0001t0005g0172 a0001c0001t0006g0173 a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0008g0024 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0165 a0001c0001t0013g0137 a0001c0001t0015g0161 a0001c0001t0015g0182 a0001c0001t0021g0042 a0001c0001t0021g0043 a0001c0001t0021g0044 a0001c0001t0021g0274 a0001c0001t0025g0166 a0001c0001t0026g0240 a0001c0001t0026g0243 a0001c0001t0026g0256 a0001c0001t0031g0150 a0001c0001t0035g0241 a0001c0001t0039g0009 a0001c0001t0048g0109	41	312	0.1314	-25	c.128 others(41): Show c.1286-111_1286-87delTCGTGCCACACCCTCACTCCCTTAC	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZIN2_chr1_33076153_33128492	33099991	TCCTTCCC others(18): Show TCCTTCCCAGGGACTTTGTGTTTAGA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG04184.hp2 others(15): Show HG00621.hp2 HG00673.hp2 HG04184.hp2 NA18946.hp2 NA18948.hp1 NA18953.hp1 NA18954.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18989.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19086.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014	a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0096 others(10): Show a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0004g0101 a0001c0001t0004g0105 a0001c0001t0014g0006	18	320	0.0563	-25	c.102 others(44): Show c.1029+1816_1029+1840delTCCCAGGGACTTTGTGTTTAGACCT	AZIN2	ENSG00000142920.18	transcript	ENST00000294517.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474965	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0266 a0001c0002t0003g0266	1	342	0.0029	-25	c.652 others(42): Show c.652-4030_652-4006delAAATATATATATATATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GALT4_chr6_33272123_33283825	33280265	GGGGGAAC others(18): Show GGGGGAACCTGACCTTCTCCAGCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01109.hp1 others(7): Show HG00280.hp2 HG01070.hp2 HG01109.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp2 HG02630.hp2 HG03225.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	10	361	0.0277	-25	c.17 others(36): Show c.1710_*1734delGGGGAACCTGACCTTCTCCAGCAGT	B3GALT4	ENSG00000235863.4	transcript	ENST00000451237.3	protein_coding		1441		chr6	TogoVar
B3GALT5_chr21_39607940_39678137	39658235	TTTGGGTT others(18): Show TTTGGGTTTGGCACCTGCTCTGCCAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02976.hp2 others(2): Show HG02109.hp2 HG02145.hp1 HG02976.hp2 HG03453.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0026 a0001c0003t0123 a0002c0002t0085 a0001c0003t0026 a0001c0003t0123 a0002c0002t0085	a0001c0003t0026g0015 a0001c0003t0026g0135 a0001c0003t0026g0136 others(2): Show a0001c0003t0026g0015 a0001c0003t0026g0135 a0001c0003t0026g0136 a0001c0003t0123g0138 a0002c0002t0085g0140	5	334	0.0150	-25	c.-16 others(44): Show c.-160-1494_-160-1470delAGTTGGGTTTGGCACCTGCTCTGCC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134397541	GCCAGAGG others(18): Show GCCAGAGGGCAGTGCCCCATTCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02451.hp2 others(15): Show HG02109.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA18982.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0044 a0001c0003t0004 a0002c0002t0002	a0001c0001t0001g0091 a0001c0001t0003g0090 a0001c0001t0004g0006 others(13): Show a0001c0001t0001g0091 a0001c0001t0003g0090 a0001c0001t0004g0006 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0244 a0001c0001t0014g0070 a0001c0001t0044g0073 a0001c0003t0004g0224 a0001c0003t0004g0225 a0001c0003t0004g0226 a0001c0003t0004g0242 a0002c0002t0002g0305	18	350	0.0514	-25	c.-28 others(44): Show c.-281-9626_-281-9602delGTGGGAATGGGGCACTGCCCTCTGG	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GNT7_chr2_231390710_231406164	231396110	ACCCCAGG others(18): Show ACCCCAGGTCTTGCCGGCAGCTGGGT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0019 a0001c0001t0037g0019	1	424	0.0024	-25	c.11+ others(38): Show c.11+301_11+325delAGGTCTTGCCGGCAGCTGGGTCCCC	B3GNT7	ENSG00000156966.7	transcript	ENST00000287590.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
B4GALNT2_chr17_49127769_49181840	49157369	GGAGTGCA others(18): Show GGAGTGCAGTGGTGCAATCTCTGCTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00597.hp1 others(115): Show HG00323.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03225.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18992.hp1 NA18997.hp1 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0012	a0001c0001 a0002c0002 a0002c0006 others(6): Show a0001c0001 a0002c0002 a0002c0006 a0002c0007 a0003c0003 a0005c0008 a0006c0010 a0007c0009 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0051 a0002c0002t0004 a0002c0002t0011 a0002c0006t0055 a0002c0007t0004 a0003c0003t0009 a0005c0008t0014 a0006c0010t0003 a0007c0009t0002 a0012c0016t0003	a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0059 others(105): Show a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0001g0270 a0001c0001t0001g0313 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0081 a0001c0001t0002g0093 a0001c0001t0002g0109 a0001c0001t0002g0130 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0002g0191 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0298 a0001c0001t0002g0326 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0344 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0020 a0001c0001t0003g0060 a0001c0001t0003g0080 a0001c0001t0003g0096 a0001c0001t0003g0110 a0001c0001t0003g0122 a0001c0001t0003g0173 a0001c0001t0003g0215 a0001c0001t0003g0231 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0327 a0001c0001t0012g0152 a0001c0001t0012g0156 a0001c0001t0015g0146 a0001c0001t0015g0321 a0001c0001t0017g0105 a0001c0001t0017g0106 a0001c0001t0018g0282 a0001c0001t0018g0284 a0001c0001t0020g0273 a0001c0001t0023g0276 a0001c0001t0027g0062 a0001c0001t0031g0224 a0001c0001t0036g0275 a0001c0001t0037g0225 a0001c0001t0038g0266 a0001c0001t0039g0078 a0001c0001t0044g0160 a0001c0001t0045g0107 a0001c0001t0051g0348 a0002c0002t0004g0184 a0002c0002t0004g0194 a0002c0002t0004g0220 a0002c0002t0004g0299 a0002c0002t0011g0153 a0002c0002t0011g0154 a0002c0002t0011g0274 a0002c0006t0055g0272 a0002c0007t0004g0017 a0003c0003t0009g0210 a0003c0003t0009g0239 a0003c0003t0009g0240 a0003c0003t0009g0260 a0003c0003t0009g0347 a0005c0008t0014g0221 a0005c0008t0014g0222 a0006c0010t0003g0084 a0006c0010t0003g0229 a0007c0009t0002g0133 a0012c0016t0003g0343	118	378	0.3122	-25	c.498 others(40): Show c.498+767_498+791delGAGTGCAGTGGTGCAATCTCTGCTC	B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	5/10			chr17	TogoVar
B4GALT3_chr1_161166310_161182507	161179280	TTTTCCTT others(18): Show TTTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	372	0.0027	-25	c.-20 others(36): Show c.-2043_-2019delGGAAGGAAGGAAGGAAGGAAGGAAA	B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding		1774		chr1	TogoVar
BABAM2_chr2_27885729_28343901	28315421	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01496.hp2 others(5): Show HG00140.hp2 HG00733.hp1 HG01496.hp2 HG02145.hp1 HG02258.hp1 HG02602.hp1 HG02970.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0109 others(5): Show a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0153 a0001c0001t0002g0117 a0001c0001t0002g0147 a0001c0001t0003g0089 a0002c0002t0001g0085	8	28	0.2857	-25	c.108 others(46): Show c.1088+16971_1088+16995delTTTTCTTTTCTTTTCTTTTCTTTT C	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAIAP2_chr17_81030151_81122434	81093078	CCTGGGCT others(18): Show CCTGGGCTGGGCTGGGCTGGGCTGGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG00738.hp2 others(59): Show HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01891.hp1 HG01943.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03209.hp1 HG03491.hp1 HG03516.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18960.hp2 NA18964.hp2 NA18970.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19056.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19080.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0001t0043 a0001c0001t0044 a0001c0003t0004 a0001c0003t0027 a0001c0003t0029 a0001c0009t0003 a0001c0015t0003	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0317 others(58): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0001g0364 a0001c0001t0003g0325 a0001c0001t0004g0002 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0004g0116 a0001c0001t0004g0118 a0001c0001t0004g0127 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0193 a0001c0001t0004g0203 a0001c0001t0004g0284 a0001c0001t0004g0292 a0001c0001t0004g0307 a0001c0001t0004g0311 a0001c0001t0004g0330 a0001c0001t0004g0362 a0001c0001t0006g0333 a0001c0001t0018g0010 a0001c0001t0019g0011 a0001c0001t0019g0024 a0001c0001t0022g0329 a0001c0001t0028g0027 a0001c0001t0043g0217 a0001c0001t0044g0094 a0001c0003t0004g0137 a0001c0003t0004g0143 a0001c0003t0004g0200 a0001c0003t0004g0212 a0001c0003t0004g0248 a0001c0003t0004g0255 a0001c0003t0004g0258 a0001c0003t0004g0264 a0001c0003t0004g0266 a0001c0003t0004g0320 a0001c0003t0027g0259 a0001c0003t0029g0260 a0001c0009t0003g0236 a0001c0009t0003g0261 a0001c0015t0003g0335	62	215	0.2884	-25	c.489 others(42): Show c.489+6527_489+6551delGGCTGGGCTGGGCTGGGCTGGGCTG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANP_chr16_87946434_88082316	87998404	CTCTGCGT others(18): Show CTCTGCGTGGGCTGCTGTCTGTGCCA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02293.hp2 HG00735.hp2 HG01884.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0005t0003 a0001c0004t0004 a0001c0005t0003	a0001c0004t0004g0129 a0001c0004t0004g0137 a0001c0005t0003g0291 a0001c0004t0004g0129 a0001c0004t0004g0137 a0001c0005t0003g0291	3	350	0.0086	-25	c.363 others(42): Show c.363-5841_363-5817delATCTGCGTGGGCTGCTGTCTGTGCC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88015078	TCCTCTGC others(18): Show TCCTCTGCCTGTCCCCTCTGCCCGTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01891.hp1 others(15): Show HG00639.hp2 HG01167.hp2 HG01891.hp1 HG02145.hp2 HG02451.hp1 HG02647.hp2 HG02809.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03834.hp2 NA19043.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0010 a0001c0011 others(4): Show a0001c0005 a0001c0010 a0001c0011 a0001c0012 a0001c0027 a0002c0019 a0002c0028	a0001c0005t0005 a0001c0010t0007 a0001c0011t0005 others(5): Show a0001c0005t0005 a0001c0010t0007 a0001c0011t0005 a0001c0012t0001 a0001c0027t0007 a0002c0019t0017 a0002c0019t0018 a0002c0028t0015	a0001c0005t0005g0067 a0001c0005t0005g0068 a0001c0010t0007g0122 others(15): Show a0001c0005t0005g0067 a0001c0005t0005g0068 a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0126 a0001c0010t0007g0148 a0001c0010t0007g0150 a0001c0010t0007g0155 a0001c0010t0007g0157 a0001c0010t0007g0158 a0001c0011t0005g0338 a0001c0011t0005g0339 a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0027t0007g0092 a0002c0019t0017g0088 a0002c0019t0018g0087 a0002c0028t0015g0089	18	350	0.0514	-25	c.656 others(42): Show c.656-3335_656-3311delCTCTGCCCGTCCCTCTGCCTGTCCC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88015321	CGTGCCCT others(18): Show CGTGCCCTCTGCCCGTCCCTCTGCCA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0101 a0001c0009t0005g0101	1	350	0.0029	-25	c.656 others(42): Show c.656-3104_656-3080delGCCCTCTGCCCGTCCCTCTGCCAGT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARHL1_chr9_132577606_132595252	132579334	GAACAGGG others(18): Show GAACAGGGGCTCAGAGAAGTTGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	470	0.0021	-25	c.-34 others(36): Show c.-3463_-3439delAACAGGGGCTCAGAGAAGTTGGGCA	BARHL1	ENSG00000125492.11	transcript	ENST00000263610.7	protein_coding		3271		chr9	TogoVar
BASP1_chr5_17212631_17281834	17280986	CAAAGTGT others(18): Show CAAAGTGTTGGGATTACAGGCATGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0284 a0001c0001t0009g0284	1	368	0.0027	-25	c.50 others(36): Show c.5087_*5111delAAAGTGTTGGGATTACAGGCATGAG	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		4153		chr5	TogoVar
BAZ2A_chr12_56590596_56635326	56597575	CACACACA others(18): Show CACACACAGCGCGCGCTCTGAGGCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0124 a0001c0001t0009g0124	1	314	0.0032	-25	c.10 others(36): Show c.1018_*1042delCAGCCTCAGAGCGCGCGCTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1018		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG02280.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0024 a0002c0002t0001g0023 a0001c0001t0001g0024 a0002c0002t0001g0023	2	58	0.0345	-25	c.-46 others(44): Show c.-46+26030_-46+26054delTTTTTTTTTTTTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBX_chr3_107517962_107816339	107584039	TATATATT others(18): Show TATATATTATATATATTATATATATC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19088.hp2 HG02083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0162 a0001c0001t0001g0058 a0001c0001t0002g0162	2	220	0.0091	-25	c.-84 others(44): Show c.-84+57689_-84+57713delATCATATATTATATATATTATATAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107584087	ATCATATA others(18): Show ATCATATATTATATATATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03710.hp1 HG03688.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0181 a0001c0001t0017g0202 a0001c0001t0002g0181 a0001c0001t0017g0202	2	202	0.0099	-25	c.-84 others(44): Show c.-84+57690_-84+57714delTCATATATTATATATATTATATATT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17			chr3	TogoVar
BCKDHA_chr19_41392818_41430002	41419953	GAGATAAG others(18): Show GAGATAAGGTTTCACCATTTTGGCCA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	372	0.0027	-25	c.646 others(40): Show c.646+658_646+682delAGATAAGGTTTCACCATTTTGGCCA	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	5/8			chr19	TogoVar
BCL11A_chr2_60452194_60558654	60507241	AGGGAGGG others(18): Show AGGGAGGGGAGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18994.hp1 NA20905.hp2 NA18970.hp1 NA18994.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0044 a0001c0001t0003 a0001c0001t0010 a0001c0001t0044	a0001c0001t0003g0152 a0001c0001t0010g0031 a0001c0001t0044g0104 a0001c0001t0003g0152 a0001c0001t0010g0031 a0001c0001t0044g0104	3	120	0.0250	-25	c.386 others(44): Show c.386-38433_386-38409delCTCCCCTCCCCTCCCCTCCCCTCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507296	GGGGAGGG others(18): Show GGGGAGGGGAGGGGAGGGGAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0010 a0001c0001t0014g0010	1	201	0.0050	-25	c.386 others(44): Show c.386-38488_386-38464delTTCCCCTCCCCTCCCCTCCCCTCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17715141	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	295	0.0034	-25	c.601 others(44): Show c.601-11535_601-11511delATATATATATATATATATATATATA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6			chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715143	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03225.hp2 HG02738.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0009 a0001c0001t0004 a0001c0007t0009	a0001c0001t0004g0185 a0001c0007t0009g0059 a0001c0001t0004g0185 a0001c0007t0009g0059	2	298	0.0067	-25	c.601 others(44): Show c.601-11533_601-11509delATATATATATATATATATATATATA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6			chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715145	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0040 a0001c0007t0009g0040	1	304	0.0033	-25	c.601 others(44): Show c.601-11531_601-11507delATATATATATATATATATATATATA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6			chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715146	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	259	0.0039	-25	c.601 others(44): Show c.601-11529_601-11505delATATATATATATATATATATATATT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715148	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01361.hp1 HG02132.hp2 others(2): Show HG00323.hp1 HG01361.hp1 HG02132.hp2 HG03654.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0003c0005	a0001c0001t0004 a0001c0001t0047 a0002c0003t0001 others(2): Show a0001c0001t0004 a0001c0001t0047 a0002c0003t0001 a0003c0004t0016 a0003c0005t0006	a0001c0001t0004g0164 a0001c0001t0047g0129 a0002c0003t0001g0005 others(2): Show a0001c0001t0004g0164 a0001c0001t0047g0129 a0002c0003t0001g0005 a0003c0004t0016g0091 a0003c0005t0006g0085	5	280	0.0179	-25	c.601 others(44): Show c.601-11527_601-11503delATATATATATATATATATATATTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715150	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01175.hp2 HG01934.hp2 others(3): Show HG01168.hp2 HG01175.hp2 HG01934.hp2 HG02148.hp2 HG02300.hp2 NA18986.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0009 a0003c0004t0015 others(2): Show a0001c0001t0002 a0001c0001t0009 a0003c0004t0015 a0003c0004t0016 a0003c0004t0030	a0001c0001t0002g0208 a0001c0001t0009g0039 a0003c0004t0015g0083 others(3): Show a0001c0001t0002g0208 a0001c0001t0009g0039 a0003c0004t0015g0083 a0003c0004t0015g0084 a0003c0004t0016g0090 a0003c0004t0030g0104	6	260	0.0231	-25	c.601 others(44): Show c.601-11525_601-11501delATATATATATATATATATATTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2_chr18_63118346_63324769	63169307	TCTTCCTT others(18): Show TCTTCCTTCCTTCCTTCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(12): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG01081.hp2 HG02083.hp1 HG02615.hp1 HG02895.hp2 HG03098.hp1 HG03540.hp1 HG03669.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0028 a0001c0002t0041 a0001c0004t0008 a0002c0003t0001 a0003c0005t0004	a0001c0001t0001g0118 a0001c0001t0001g0165 a0001c0001t0001g0199 others(12): Show a0001c0001t0001g0118 a0001c0001t0001g0165 a0001c0001t0001g0199 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0005g0130 a0001c0001t0013g0229 a0001c0001t0016g0010 a0001c0001t0018g0160 a0001c0001t0022g0180 a0001c0001t0028g0006 a0001c0002t0041g0246 a0001c0004t0008g0043 a0002c0003t0001g0098 a0003c0005t0004g0101	15	199	0.0754	-25	c.586 others(44): Show c.586-40573_586-40549delGAAAGGAAAGAAGGAAGGAAGGAAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BDH1_chr3_197504783_197560968	197510659	TGTGTGTG others(18): Show TGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG02109.hp1 HG02257.hp2 others(3): Show HG00733.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02965.hp1 NA18946.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0001c0001t0018 a0001c0001t0020 others(2): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0020 a0001c0001t0062 a0003c0007t0045	a0001c0001t0002g0071 a0001c0001t0002g0216 a0001c0001t0018g0212 others(3): Show a0001c0001t0002g0071 a0001c0001t0002g0216 a0001c0001t0018g0212 a0001c0001t0020g0052 a0001c0001t0062g0181 a0003c0007t0045g0077	6	318	0.0189	-25	c.12 others(36): Show c.1211_*1235delCTTACACACATGTACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96221057	GCTGTGTG others(18): Show GCTGTGTGACTCTGGACAAGCCACCT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0304 a0001c0001t0032g0304	1	434	0.0023	-25	c.-39 others(44): Show c.-39-15992_-39-15968delCCACCTCTGTGTGACTCTGGACAAG	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BECN2_chr1_241952767_241964062	241955960	AATCCCAG others(18): Show AATCCCAGCACTTTAGGAGGCCGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	-25	c.-18 others(36): Show c.-1806_-1782delATCCCAGCACTTTAGGAGGCCGAGG	BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding		1806		chr1	TogoVar

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