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
ATXN1_chr6_16294112_16766460	16454125	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00642.hp2 others(16): Show HG00597.hp1 HG00609.hp2 HG00642.hp2 HG01081.hp1 HG01346.hp2 HG02132.hp1 HG02155.hp2 HG02300.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG03098.hp1 HG03492.hp2 HG03688.hp2 NA18952.hp1 NA18960.hp2 NA19009.hp1 NA19060.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0002c0003 others(7): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0002c0011 a0003c0002 a0003c0009 a0003c0013 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0002c0003t0001 a0002c0003t0021 a0002c0004t0002 a0002c0011t0001 a0002c0011t0012 a0003c0002t0002 a0003c0002t0007 a0003c0002t0008 a0003c0002t0016 a0003c0009t0001 a0003c0013t0007 a0004c0005t0002 a0005c0007t0005	a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0002g0076 others(16): Show a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0002g0076 a0001c0008t0002g0013 a0002c0003t0001g0049 a0002c0003t0021g0003 a0002c0004t0002g0028 a0002c0011t0001g0034 a0002c0011t0012g0135 a0003c0002t0002g0090 a0003c0002t0007g0136 a0003c0002t0008g0063 a0003c0002t0008g0116 a0003c0002t0008g0140 a0003c0002t0016g0111 a0003c0009t0001g0093 a0003c0013t0007g0022 a0004c0005t0002g0167 a0005c0007t0005g0168	19	61	0.3115	-15	c.-16 others(36): Show c.-161+31832_-161+31846delTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16466317	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02895.hp1 HG02896.hp1 others(3): Show HG00423.hp1 HG02895.hp1 HG02896.hp1 HG03927.hp2 NA19009.hp2 NA19060.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0033 a0002c0004 others(3): Show a0001c0001 a0001c0033 a0002c0004 a0003c0002 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0033t0001 a0002c0004t0003 others(3): Show a0001c0001t0001 a0001c0033t0001 a0002c0004t0003 a0003c0002t0016 a0004c0006t0002 a0005c0007t0016	a0001c0001t0001g0037 a0001c0033t0001g0012 a0002c0004t0003g0057 others(3): Show a0001c0001t0001g0037 a0001c0033t0001g0012 a0002c0004t0003g0057 a0003c0002t0016g0111 a0004c0006t0002g0040 a0005c0007t0016g0153	6	35	0.1714	-15	c.-16 others(36): Show c.-161+19640_-161+19654delTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111489133	AATGCTAA others(8): Show AATGCTAAGAGAGTCT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0138 a0003c0005t0001g0138	1	296	0.0034	-15	c.193 others(32): Show c.1936-368_1936-354delAGACTCTCTTAGCAT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	14/24			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92067778	AAGCCTCC others(8): Show AAGCCTCCACTGACAC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03654.hp1 others(1): Show HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03834.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0003 a0004c0003t0001g0182 a0004c0003t0001g0003 a0004c0003t0001g0182	4	400	0.0100	-15	c.991 others(32): Show c.991+3142_991+3156delGTGTCAGTGGAGGCT	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/10			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92111312	TTACTTTA others(8): Show TTACTTTATATACTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00639.hp1 others(76): Show HG00323.hp2 HG00408.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01496.hp1 HG01891.hp2 HG01978.hp2 HG02040.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18971.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA19030.hp2 NA19059.hp2 NA19064.hp2 NA19067.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(19): Show a0002 a0003 a0004 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0016 a0017 a0020 a0021 a0022 a0023 a0024 a0030 a0033 a0039 a0040 a0043	a0002c0002 a0003c0004 a0003c0026 others(26): Show a0002c0002 a0003c0004 a0003c0026 a0004c0003 a0006c0051 a0006c0052 a0007c0010 a0007c0017 a0009c0037 a0010c0011 a0011c0057 a0012c0016 a0013c0013 a0013c0063 a0013c0065 a0016c0025 a0016c0042 a0017c0015 a0020c0022 a0021c0027 a0022c0020 a0023c0028 a0024c0031 a0024c0041 a0030c0040 a0033c0043 a0039c0061 a0040c0055 a0043c0058	a0002c0002t0050 a0003c0004t0005 a0003c0004t0074 others(40): Show a0002c0002t0050 a0003c0004t0005 a0003c0004t0074 a0003c0026t0017 a0004c0003t0020 a0006c0051t0020 a0006c0052t0011 a0007c0010t0006 a0007c0010t0016 a0007c0010t0038 a0007c0017t0003 a0009c0037t0011 a0010c0011t0006 a0010c0011t0014 a0010c0011t0034 a0011c0057t0046 a0012c0016t0006 a0012c0016t0023 a0013c0013t0009 a0013c0013t0031 a0013c0013t0059 a0013c0063t0022 a0013c0065t0005 a0016c0025t0026 a0016c0042t0005 a0017c0015t0012 a0017c0015t0028 a0020c0022t0011 a0021c0027t0006 a0021c0027t0063 a0022c0020t0009 a0022c0020t0062 a0023c0028t0015 a0023c0028t0022 a0023c0028t0036 a0024c0031t0006 a0024c0041t0006 a0030c0040t0006 a0030c0040t0022 a0033c0043t0006 a0039c0061t0006 a0040c0055t0025 a0043c0058t0041	a0002c0002t0050g0375 a0003c0004t0005g0001 a0003c0004t0005g0009 others(71): Show a0002c0002t0050g0375 a0003c0004t0005g0001 a0003c0004t0005g0009 a0003c0004t0005g0295 a0003c0004t0005g0296 a0003c0004t0005g0297 a0003c0004t0005g0300 a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0074g0385 a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 a0003c0026t0017g0379 a0004c0003t0020g0357 a0006c0051t0020g0120 a0006c0052t0011g0116 a0007c0010t0006g0374 a0007c0010t0016g0130 a0007c0010t0038g0127 a0007c0017t0003g0364 a0009c0037t0011g0115 a0009c0037t0011g0118 a0010c0011t0006g0359 a0010c0011t0006g0366 a0010c0011t0006g0370 a0010c0011t0014g0369 a0010c0011t0034g0368 a0011c0057t0046g0121 a0012c0016t0006g0367 a0012c0016t0006g0372 a0012c0016t0023g0361 a0013c0013t0009g0024 a0013c0013t0009g0025 a0013c0013t0009g0026 a0013c0013t0009g0027 a0013c0013t0009g0031 a0013c0013t0031g0033 a0013c0013t0059g0032 a0013c0063t0022g0310 a0013c0065t0005g0381 a0016c0025t0026g0111 a0016c0025t0026g0114 a0016c0042t0005g0298 a0016c0042t0005g0299 a0017c0015t0012g0185 a0017c0015t0012g0187 a0017c0015t0012g0189 a0017c0015t0028g0186 a0017c0015t0028g0188 a0020c0022t0011g0117 a0020c0022t0011g0119 a0021c0027t0006g0382 a0021c0027t0063g0308 a0022c0020t0009g0023 a0022c0020t0009g0029 a0022c0020t0062g0028 a0023c0028t0015g0006 a0023c0028t0022g0030 a0023c0028t0036g0373 a0024c0031t0006g0365 a0024c0041t0006g0371 a0024c0041t0006g0376 a0030c0040t0006g0358 a0030c0040t0022g0309 a0033c0043t0006g0362 a0039c0061t0006g0360 a0040c0055t0025g0294 a0043c0058t0041g0176	79	400	0.1975	-15	c.-47 others(26): Show c.-4775_-4761delGTAGTATATAAAGTA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding		4731		chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619522	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0210 a0001c0001t0051g0210	1	241	0.0041	-15	c.151 others(32): Show c.1517+663_1517+677delAAAAAAATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619526	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0051 a0001c0001t0010g0051	1	234	0.0043	-15	c.151 others(32): Show c.1517+659_1517+673delAAAAAAAAAAATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619528	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0160 a0001c0001t0038g0160	1	236	0.0042	-15	c.151 others(32): Show c.1517+657_1517+671delAAAAAAAAAAAAATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01069.hp1 others(15): Show HG00323.hp2 HG00741.hp2 HG01069.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01517.hp2 HG01952.hp2 HG02155.hp2 HG02300.hp1 HG02738.hp1 NA18994.hp2 NA19000.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018	a0001c0001t0001g0100 a0001c0001t0001g0150 a0001c0001t0001g0170 others(15): Show a0001c0001t0001g0100 a0001c0001t0001g0150 a0001c0001t0001g0170 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0003g0053 a0001c0001t0003g0187 a0001c0001t0005g0233 a0001c0001t0005g0237 a0001c0001t0007g0022 a0001c0001t0008g0062 a0001c0001t0009g0097 a0001c0001t0010g0095 a0001c0001t0012g0122 a0001c0001t0013g0126 a0001c0001t0018g0120 a0001c0001t0018g0168	18	165	0.1091	-15	c.151 others(32): Show c.1517+655_1517+669delAAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105685044	GATAATAA others(8): Show GATAATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01167.hp2 others(36): Show HG00735.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03130.hp1 HG03471.hp2 HG03491.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 NA18943.hp1 NA18945.hp1 NA18970.hp2 NA18971.hp1 NA18989.hp1 NA18995.hp1 NA19054.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19086.hp1 NA19087.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0044 a0001c0001t0054 a0001c0001t0055 a0001c0006t0002 a0001c0007t0033 a0001c0012t0001 a0002c0002t0026 a0005c0011t0001	a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0001g0129 others(36): Show a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0174 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0088 a0001c0001t0002g0102 a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0001t0003g0186 a0001c0001t0003g0231 a0001c0001t0003g0245 a0001c0001t0004g0039 a0001c0001t0005g0038 a0001c0001t0005g0124 a0001c0001t0007g0022 a0001c0001t0009g0054 a0001c0001t0009g0097 a0001c0001t0009g0146 a0001c0001t0010g0032 a0001c0001t0010g0093 a0001c0001t0012g0052 a0001c0001t0013g0019 a0001c0001t0014g0061 a0001c0001t0014g0069 a0001c0001t0014g0175 a0001c0001t0024g0037 a0001c0001t0025g0072 a0001c0001t0028g0041 a0001c0001t0044g0148 a0001c0001t0054g0193 a0001c0001t0055g0098 a0001c0006t0002g0112 a0001c0007t0033g0157 a0001c0012t0001g0047 a0002c0002t0026g0212 a0005c0011t0001g0092	39	79	0.4937	-15	c.356 others(34): Show c.356-19771_356-19757delTATTATTATTATTAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105693569	ATCCATCC others(8): Show ATCCATCCATCCATCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp2 HG02895.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0001 a0001c0001t0051	a0001c0001t0001g0202 a0001c0001t0051g0210 a0001c0001t0001g0202 a0001c0001t0051g0210	2	250	0.0080	-15	c.356 others(34): Show c.356-28296_356-28282delAGATGGATGGATGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18971.hp2 NA18994.hp1 others(3): Show NA18962.hp2 NA18971.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0001 a0001c0001t0002 a0001c0001t0028	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0002g0005 a0001c0001t0028g0007	6	25	0.2400	-15	c.356 others(34): Show c.356-57287_356-57273delTTTTTTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7_chr3_63858867_64008462	63865894	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0293 a0002c0003t0002g0293	1	106	0.0094	-15	c.-11 others(34): Show c.-111+1753_-111+1767delAAAAAAAAAAAAAAA	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63952835	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19084.hp1 HG02886.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0004c0012t0005 a0001c0001t0001 a0004c0012t0005	a0001c0001t0001g0054 a0004c0012t0005g0012 a0001c0001t0001g0054 a0004c0012t0005g0012	2	67	0.0299	-15	c.499 others(30): Show c.499+369_499+383delTTTTTTTTTTTTTTT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUTS2_chr7_69593475_70798506	69670555	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA21309.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0015g0002 a0001c0001t0016g0003	2	8	0.2500	-15	c.309 others(34): Show c.309+70615_309+70629delAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69891774	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG03579.hp1 HG02615.hp2 HG02622.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0034 a0002c0002t0026 a0002c0010t0033 a0001c0001t0034 a0002c0002t0026 a0002c0010t0033	a0001c0001t0034g0018 a0002c0002t0026g0011 a0002c0010t0033g0014 a0001c0001t0034g0018 a0002c0002t0026g0011 a0002c0010t0033g0014	3	5	0.6000	-15	c.310 others(32): Show c.310-7489_310-7475delTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69894264	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG02165.hp2 others(6): Show HG01081.hp1 HG01175.hp1 HG02165.hp2 HG02630.hp1 HG03239.hp1 HG03453.hp2 HG04199.hp1 NA18612.hp2 NA18952.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0022 a0004c0006t0003	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0020g0029 a0001c0001t0022g0031 a0004c0006t0003g0030	9	76	0.1184	-15	c.310 others(32): Show c.310-5021_310-5007delTTTTTTTTTTTTTTA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003172	TTATATGA others(8): Show TTATATGAATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG01433.hp1 others(9): Show HG00597.hp2 HG00741.hp1 HG01433.hp1 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG03225.hp2 HG03579.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0003t0008	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0045 others(9): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0045 a0001c0001t0003g0072 a0001c0001t0004g0054 a0001c0001t0007g0040 a0001c0001t0011g0041 a0001c0001t0019g0076 a0001c0001t0023g0075 a0001c0001t0028g0021 a0001c0003t0008g0039 a0001c0003t0008g0069	12	74	0.1622	-15	c.522 others(36): Show c.522+103748_522+103762delTATATATGAATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003246	TATATATG others(8): Show TATATATGAATATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20752.hp1 NA21309.hp1 HG03225.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0001c0001t0016 a0002c0002t0036 a0001c0001t0015 a0001c0001t0016 a0002c0002t0036	a0001c0001t0015g0002 a0001c0001t0016g0003 a0002c0002t0036g0017 a0001c0001t0015g0002 a0001c0001t0016g0003 a0002c0002t0036g0017	3	76	0.0395	-15	c.522 others(36): Show c.522+103755_522+103769delGAATATATAATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70043590	TTCCTTCC others(8): Show TTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01952.hp2 HG02055.hp2 others(3): Show HG00099.hp2 HG01952.hp2 HG02055.hp2 HG02886.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0001c0003t0027 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0003t0027 a0002c0002t0031	a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0009g0008 others(3): Show a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0003t0027g0009 a0002c0002t0031g0007	6	76	0.0789	-15	c.523 others(34): Show c.523-74540_523-74526delCCTTCCTTCCTTCCT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70108783	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01934.hp2 HG00280.hp1 HG00597.hp1 HG01934.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0001c0001t0003 a0003c0011t0007 a0001c0001t0001 a0001c0001t0003 a0003c0011t0007	a0001c0001t0001g0071 a0001c0001t0003g0068 a0003c0011t0007g0004 a0001c0001t0001g0071 a0001c0001t0003g0068 a0003c0011t0007g0004	3	16	0.1875	-15	c.523 others(32): Show c.523-9332_523-9318delAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70224331	GTACAATA others(8): Show GTACAATACAATACAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02622.hp1 others(5): Show HG01952.hp2 HG02055.hp2 HG02622.hp1 HG02630.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0034 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033	a0001c0001t0004g0051 a0001c0001t0005g0005 a0001c0001t0005g0020 others(5): Show a0001c0001t0004g0051 a0001c0001t0005g0005 a0001c0001t0005g0020 a0001c0001t0020g0029 a0001c0001t0034g0018 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014	8	18	0.4444	-15	c.660 others(34): Show c.660+89818_660+89832delCAATACAATACAATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70338833	CTTATTTA others(8): Show CTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	6	0.1667	-15	c.661 others(34): Show c.661-96916_661-96902delATTTATTTATTTATT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70591139	ACCCACCC others(8): Show ACCCACCCCACCTGTC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02165.hp2 HG03017.hp2 others(5): Show HG00597.hp1 HG02165.hp2 HG03017.hp2 HG03704.hp1 HG04199.hp1 NA18612.hp2 NA18952.hp2 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0002c0002t0024 a0004c0006t0003 a0005c0009t0001	a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0033 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0033 a0001c0001t0005g0020 a0001c0001t0022g0031 a0002c0002t0024g0059 a0004c0006t0003g0030 a0005c0009t0001g0043	8	76	0.1053	-15	c.691 others(36): Show c.691-107416_691-107402delTCCCCACCCCACCTG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33931349	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(126): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19007.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0005 a0005c0006 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001 a0003c0003t0003 a0004c0004t0001 a0004c0005t0007 a0005c0006t0002 a0008c0009t0002	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 others(126): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0002g0080 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0002g0204 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0247 a0001c0001t0004g0050 a0001c0001t0004g0084 a0001c0001t0004g0093 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0005g0024 a0001c0001t0005g0095 a0001c0001t0005g0121 a0001c0001t0006g0098 a0002c0002t0001g0061 a0002c0002t0001g0143 a0002c0002t0001g0150 a0002c0002t0001g0189 a0002c0002t0001g0203 a0002c0002t0001g0209 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0261 a0003c0003t0003g0004 a0003c0003t0003g0007 a0004c0004t0001g0016 a0004c0005t0007g0265 a0005c0006t0002g0138 a0005c0006t0002g0208 a0005c0006t0002g0210 a0008c0009t0002g0020	129	131	0.9847	-15	c.446 others(34): Show c.446-55369_446-55355delAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	6	0.1667	-15	c.445 others(34): Show c.445+40098_445+40112delTTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	34024139	CCAGGCAT others(8): Show CCAGGCATTAGTCAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(113): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19081.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0012 a0002c0002 others(3): Show a0001c0001 a0001c0012 a0002c0002 a0004c0004 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0012t0001 a0002c0002t0001 a0004c0004t0001 a0004c0008t0001 a0005c0006t0002	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(113): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0260 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0093 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0005g0095 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0006g0098 a0001c0012t0001g0064 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0123 a0002c0002t0001g0137 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0161 a0004c0004t0001g0016 a0004c0004t0001g0018 a0004c0004t0001g0019 a0004c0008t0001g0017 a0005c0006t0002g0138	116	264	0.4394	-15	c.267 others(34): Show c.267+14626_267+14640delACTGACTAATGCCTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	1/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01258.hp2 others(5): Show HG01106.hp2 HG01192.hp1 HG01258.hp2 HG01517.hp2 HG02451.hp2 HG02723.hp1 HG02896.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 others(1): Show a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0041	a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 others(5): Show a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 a0001c0001t0023g0275 a0001c0001t0031g0291 a0001c0001t0031g0292 a0001c0001t0041g0239 a0001c0001t0041g0241	8	9	0.8889	-15	c.94- others(30): Show c.94-2239_94-2225delTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678985	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	444	0.0023	-15	c.287 others(30): Show c.287+619_287+633delACACACACACACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1B_chr1_206101936_206122388	206109327	AGGCTGGA others(8): Show AGGCTGGATTCCCTGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0091 a0001c0001t0072g0091	1	394	0.0025	-15	c.84 others(24): Show c.847_*861delCCAGGGAATCCAGCC	AVPR1B	ENSG00000198049.7	transcript	ENST00000367126.5	protein_coding	2/2	847		chr1	TogoVar
AVPR2_chrX_153899673_153912166	153900611	TAAAATTC others(8): Show TAAAATTCTAGAAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0001 a0001c0002t0006g0001	1	320	0.0031	-15	c.-43 others(26): Show c.-4332_-4318delAAAATTCTAGAAAAG	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding		4061		chrX	TogoVar
AWAT2_chrX_70035542_70054938	70050503	CATAGGTA others(8): Show CATAGGTACTGAATAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	336	0.0030	-15	c.-58 others(24): Show c.-586_-572delTTATTCAGTACCTAT	AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding		566		chrX	TogoVar
AWAT2_chrX_70035542_70054938	70054572	GAAATCAG others(8): Show GAAATCAGGCTAGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	336	0.0030	-15	c.-46 others(26): Show c.-4655_-4641delAGGCTAGCCTGATTT	AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding		4635		chrX	TogoVar
AXDND1_chr1_179360971_179559735	179401796	GCCTTTCA others(8): Show GCCTTTCACCTTCCAC	G G	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	354	0.0028	-15	c.110 others(34): Show c.1109+6596_1109+6610delCTTTCACCTTCCACC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179421367	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(75): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02523.hp1 HG02698.hp1 HG03017.hp1 HG03491.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0016 a0022	a0001c0002 a0001c0006 a0001c0011 others(6): Show a0001c0002 a0001c0006 a0001c0011 a0001c0021 a0002c0001 a0002c0019 a0011c0014 a0016c0024 a0022c0025	a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 others(6): Show a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 a0001c0021t0001 a0002c0001t0001 a0002c0019t0001 a0011c0014t0001 a0016c0024t0001 a0022c0025t0001	a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(75): Show a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0210 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0314 a0001c0006t0001g0136 a0001c0011t0001g0085 a0001c0011t0001g0086 a0001c0011t0001g0087 a0001c0011t0001g0118 a0001c0011t0001g0157 a0001c0021t0001g0129 a0001c0021t0001g0130 a0002c0001t0001g0133 a0002c0001t0001g0156 a0002c0019t0001g0046 a0002c0019t0001g0112 a0011c0014t0001g0116 a0011c0014t0001g0121 a0011c0014t0001g0139 a0016c0024t0001g0145 a0022c0025t0001g0092	78	137	0.5693	-15	c.123 others(34): Show c.1231-8136_1231-8122delTTTTTTTTTTTTTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179455280	AAAAAAAA others(8): Show AAAAAAAAAAAAAAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(77): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02257.hp1 HG02572.hp1 HG02602.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18987.hp2 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0018 a0023	a0001c0002 a0001c0006 a0002c0001 others(6): Show a0001c0002 a0001c0006 a0002c0001 a0002c0020 a0002c0022 a0002c0023 a0005c0008 a0018c0026 a0023c0027	a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 others(6): Show a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0005c0008t0001 a0018c0026t0001 a0023c0027t0001	a0001c0002t0001g0142 a0001c0006t0001g0256 a0002c0001t0001g0002 others(76): Show a0001c0002t0001g0142 a0001c0006t0001g0256 a0002c0001t0001g0002 a0002c0001t0001g0006 a0002c0001t0001g0105 a0002c0001t0001g0133 a0002c0001t0001g0156 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0216 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0257 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0325 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0344 a0002c0001t0001g0345 a0002c0001t0001g0347 a0002c0020t0001g0319 a0002c0022t0001g0063 a0002c0023t0001g0184 a0002c0023t0001g0186 a0005c0008t0001g0335 a0005c0008t0001g0348 a0005c0008t0001g0349 a0005c0008t0001g0350 a0005c0008t0001g0351 a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354 a0018c0026t0001g0346 a0023c0027t0001g0334	80	354	0.2260	-15	c.179 others(36): Show c.1798+10091_1798+10105delTAAAAAAAAAAAAAG	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488630	CTCTCCTT others(8): Show CTCTCCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0304 a0004c0005t0001g0304	1	342	0.0029	-15	c.209 others(34): Show c.2092-2904_2092-2890delCCTTTCTTTCTTTCT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	CCTTTCTT others(8): Show CCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00673.hp1 others(10): Show HG00408.hp2 HG00544.hp1 HG00673.hp1 HG02717.hp1 HG04199.hp2 NA18612.hp1 NA18939.hp2 NA18954.hp2 NA18957.hp1 NA18965.hp2 NA18969.hp2 NA18980.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0159 a0002c0001t0001g0002 a0002c0001t0001g0224 others(10): Show a0001c0002t0001g0159 a0002c0001t0001g0002 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0227 a0002c0001t0001g0250 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0345	13	180	0.0722	-15	c.209 others(34): Show c.2092-2903_2092-2889delCTTTCTTTCTTTCTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			chr1	TogoVar
AXDND1_chr1_179360971_179559735	179541688	GATAATAT others(8): Show GATAATATGCATGATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02486.hp1 others(7): Show HG01884.hp2 HG02145.hp2 HG02486.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp2 NA19030.hp2	a0006 a0009 a0010 a0006 a0009 a0010	a0006c0009 a0009c0013 a0010c0016 a0006c0009 a0009c0013 a0010c0016	a0006c0009t0001 a0009c0013t0001 a0010c0016t0001 a0006c0009t0001 a0009c0013t0001 a0010c0016t0001	a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 others(7): Show a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 a0006c0009t0001g0193 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0009c0013t0001g0097 a0009c0013t0001g0098 a0010c0016t0001g0167	10	354	0.0282	-15	c.303 others(34): Show c.3031+6730_3031+6744delATATGCATGATAATA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXL_chr19_41214223_41266766	41260298	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG03139.hp1 HG03225.hp1 HG02896.hp2 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0047 a0001c0001t0048 a0001c0001t0037 a0001c0001t0047 a0001c0001t0048	a0001c0001t0037g0031 a0001c0001t0047g0272 a0001c0001t0048g0109 a0001c0001t0037g0031 a0001c0001t0047g0272 a0001c0001t0048g0109	3	50	0.0600	-15	c.41 others(24): Show c.411_*425delTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	411	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZIN2_chr1_33076153_33128492	33090998	TCATCCAT others(8): Show TCATCCATGTTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp2 others(71): Show HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18967.hp2 NA18969.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp2 NA18991.hp2 NA18995.hp2 NA19004.hp2 NA19006.hp1 NA19012.hp2 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0003 others(44): Show a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0219	74	320	0.2313	-15	c.280 others(32): Show c.280-1051_280-1037delCATCCATGTTGCTGC	AZIN2	ENSG00000142920.18	transcript	ENST00000294517.11	protein_coding	5/11			chr1	TogoVar
AZU1_chr19_822837_837018	833243	GATAATAA others(8): Show GATAATAATAATAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	310	0.0032	-15	c.13 others(26): Show c.1367_*1381delATAATAATAATAATA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1226		chr19	TogoVar
AZU1_chr19_822837_837018	833266	TAATAATA others(8): Show TAATAATAATAATAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01943.hp1 HG03239.hp2 others(1): Show HG00741.hp2 HG01943.hp1 HG03239.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0002c0005t0001 a0001c0001t0001 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0003t0001g0010 a0002c0005t0001g0012 a0001c0001t0001g0001 a0001c0003t0001g0010 a0002c0005t0001g0012	4	379	0.0106	-15	c.13 others(26): Show c.1390_*1404delAATAATAATAATAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1249		chr19	TogoVar
AZU1_chr19_822837_837018	833269	TAATAATA others(8): Show TAATAATAATAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03688.hp1 others(1): Show HG01516.hp2 HG01517.hp1 HG03688.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0001t0001 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0002t0001g0005 a0001c0007t0001g0010 a0001c0001t0001g0001 a0001c0002t0001g0005 a0001c0007t0001g0010	4	366	0.0109	-15	c.13 others(26): Show c.1393_*1407delAATAATAATAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1252		chr19	TogoVar
AZU1_chr19_822837_837018	833272	TAATAATA others(8): Show TAATAATAAGAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 NA18999.hp1 HG01258.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0033 a0001c0002t0001g0005 a0001c0002t0001g0033	2	311	0.0064	-15	c.13 others(26): Show c.1396_*1410delAATAATAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1255		chr19	TogoVar
AZU1_chr19_822837_837018	833278	TAAGAAGA others(8): Show TAAGAAGAAGAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02040.hp1 HG02056.hp1 others(6): Show HG00609.hp2 HG02040.hp1 HG02056.hp1 NA18970.hp2 NA18973.hp1 NA18984.hp1 NA18998.hp2 NA19066.hp2 NA19086.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0008c0011t0001 a0001c0001t0001 a0001c0002t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0008c0011t0001g0001	9	147	0.0612	-15	c.14 others(26): Show c.1402_*1416delAAGAAGAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1261		chr19	TogoVar
AZU1_chr19_822837_837018	833306	AAGAAGAA others(8): Show AAGAAGAAGAAGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	390	0.0026	-15	c.14 others(26): Show c.1430_*1444delAGAAGAAGAAGAAGG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1289		chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235443579	GCTGTTTC others(8): Show GCTGTTTCCAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02559.hp1 HG01168.hp1 HG01169.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0041 a0001c0001t0021 a0001c0001t0041	a0001c0001t0021g0228 a0001c0001t0021g0229 a0001c0001t0041g0227 a0001c0001t0021g0228 a0001c0001t0021g0229 a0001c0001t0041g0227	3	342	0.0088	-15	c.66 others(26): Show c.6612_*6626delTCTCCCTGGAAACAG	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding		3610		chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235480905	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0296 a0001c0002t0003g0296	1	11	0.0909	-15	c.556 others(30): Show c.556-771_556-757delTTTTTTTTTTTTTTT	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	4/11			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167411224	TAACAACA others(8): Show TAACAACAACAACAAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	92	0.0109	-15	c.-51 others(36): Show c.-510-78938_-510-78924delCAACAACAACAACAA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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