Joint Open Genome and Omics Platform (JoGo)

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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
AK9_chr6_109487855_109696202	109549664	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA19070.hp2 HG02148.hp2 NA19070.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0260 a0004c0005t0001g0280 a0004c0005t0001g0260 a0004c0005t0001g0280	2	109	0.0183	23	c.296 others(40): Show c.2964+425_2964+426insAAAAAAAAAAAAAAAAAAAAAAA	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	25/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109636783	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0330 a0003c0001t0002g0330	1	372	0.0027	23	c.934 others(40): Show c.934-3461_934-3460insTGTGTGTGTGTGTGTGTGTGTGT	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	10/40			chr6	TogoVar
AKAP10_chr17_19899302_19982828	19928917	A A	ATGGTCTG others(16): Show ATGGTCTGTGTACTGTGTACTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02886.hp2 HG04184.hp1 others(3): Show HG01515.hp1 HG02886.hp2 HG04184.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0096 others(3): Show a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0272	6	276	0.0217	23	c.164 others(42): Show c.1641+2887_1641+2888insCACAGTACACAGTACACAGACCA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	10/14			chr17	TogoVar
AKAP12_chr6_151234967_151363559	151304488	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0088 a0001c0067t0001g0088	1	18	0.0556	23	c.163 others(40): Show c.163-1250_163-1228dupAAAAAAAAAAAAAAAAAAAAAAA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP13_chr15_85375603_85754355	85491493	A A	ATATATTT others(16): Show ATATATTTATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03130.hp1 HG03688.hp2 HG00099.hp2 HG03130.hp1 HG03688.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0005 a0002c0001 a0005c0005	a0002c0001t0011 a0005c0005t0004 a0005c0005t0032 a0002c0001t0011 a0005c0005t0004 a0005c0005t0032	a0002c0001t0011g0103 a0005c0005t0004g0288 a0005c0005t0032g0296 a0002c0001t0011g0103 a0005c0005t0004g0288 a0005c0005t0032g0296	3	207	0.0145	23	c.33+ others(38): Show c.33+5743_33+5744insATTTATTATATATTATATATTAT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85504503	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18994.hp1 NA19240.hp2 HG03209.hp2 NA18994.hp1 NA19240.hp2	a0004 a0016 a0035 a0004 a0016 a0035	a0004c0013 a0016c0020 a0035c0061 a0004c0013 a0016c0020 a0035c0061	a0004c0013t0049 a0016c0020t0015 a0035c0061t0002 a0004c0013t0049 a0016c0020t0015 a0035c0061t0002	a0004c0013t0049g0060 a0016c0020t0015g0218 a0035c0061t0002g0255 a0004c0013t0049g0060 a0016c0020t0015g0218 a0035c0061t0002g0255	3	13	0.2308	23	c.34- others(40): Show c.34-16915_34-16893dupAAAAAAAAAAAAAAAAAAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03041.hp2 HG00639.hp1 HG03041.hp2	a0004 a0007 a0004 a0007	a0004c0006 a0007c0009 a0004c0006 a0007c0009	a0004c0006t0014 a0007c0009t0009 a0004c0006t0014 a0007c0009t0009	a0004c0006t0014g0214 a0007c0009t0009g0059 a0004c0006t0014g0214 a0007c0009t0009g0059	2	195	0.0103	23	c.416 others(44): Show c.4162-25661_4162-25660insATATATATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP6_chr14_32324298_32842684	32343231	A A	ATACCTTC others(16): Show ATACCTTCCTTGTCAAGGAAGTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01891.hp2 HG01978.hp2 others(28): Show HG00140.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03704.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18947.hp1 NA18952.hp1 NA18991.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0012 a0013 a0015 a0024 a0025	a0001c0001 a0001c0004 a0001c0019 others(16): Show a0001c0001 a0001c0004 a0001c0019 a0002c0003 a0003c0002 a0003c0009 a0003c0025 a0004c0007 a0004c0018 a0004c0027 a0005c0050 a0006c0008 a0008c0055 a0010c0012 a0012c0054 a0013c0052 a0015c0037 a0024c0022 a0025c0036	a0001c0001t0001 a0001c0001t0005 a0001c0001t0038 others(25): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0038 a0001c0001t0046 a0001c0004t0007 a0001c0004t0013 a0001c0019t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0044 a0003c0002t0001 a0003c0009t0003 a0003c0009t0011 a0003c0025t0004 a0004c0007t0018 a0004c0018t0004 a0004c0027t0004 a0005c0050t0007 a0006c0008t0004 a0006c0008t0012 a0006c0008t0016 a0008c0055t0005 a0010c0012t0040 a0012c0054t0005 a0013c0052t0012 a0015c0037t0003 a0024c0022t0013 a0025c0036t0005	a0001c0001t0001g0040 a0001c0001t0001g0139 a0001c0001t0005g0044 others(28): Show a0001c0001t0001g0040 a0001c0001t0001g0139 a0001c0001t0005g0044 a0001c0001t0038g0039 a0001c0001t0046g0034 a0001c0004t0007g0109 a0001c0004t0013g0116 a0001c0019t0001g0143 a0002c0003t0002g0035 a0002c0003t0002g0037 a0002c0003t0006g0108 a0002c0003t0044g0110 a0003c0002t0001g0046 a0003c0009t0003g0036 a0003c0009t0011g0103 a0003c0025t0004g0115 a0004c0007t0018g0042 a0004c0018t0004g0041 a0004c0027t0004g0107 a0005c0050t0007g0150 a0006c0008t0004g0114 a0006c0008t0004g0117 a0006c0008t0012g0038 a0006c0008t0016g0043 a0008c0055t0005g0106 a0010c0012t0040g0104 a0012c0054t0005g0105 a0013c0052t0012g0141 a0015c0037t0003g0100 a0024c0022t0013g0045 a0025c0036t0005g0140	31	109	0.2844	23	c.-35 others(42): Show c.-35+13839_-35+13840insGAAGTATTACCTTCCTTGTCAAG	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32769037	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 NA18942.hp2 HG01891.hp1 HG02723.hp1 NA18942.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0008 a0009c0047 a0001c0001 a0006c0008 a0009c0047	a0001c0001t0048 a0006c0008t0004 a0009c0047t0003 a0001c0001t0048 a0006c0008t0004 a0009c0047t0003	a0001c0001t0048g0015 a0006c0008t0004g0114 a0009c0047t0003g0031 a0001c0001t0048g0015 a0006c0008t0004g0114 a0009c0047t0003g0031	3	18	0.1667	23	c.337 others(42): Show c.3373-4636_3373-4614dupTTTTTTTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32780155	A A	AAACATAT others(16): Show AAACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp1 HG02257.hp2 others(5): Show HG02074.hp1 HG02109.hp1 HG02257.hp2 HG03225.hp2 NA18947.hp1 NA18947.hp2 NA19043.hp2 NA21309.hp1	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0012 a0027	a0001c0001 a0003c0002 a0003c0025 others(3): Show a0001c0001 a0003c0002 a0003c0025 a0008c0014 a0012c0049 a0027c0038	a0001c0001t0001 a0001c0001t0005 a0001c0001t0046 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0046 a0003c0002t0042 a0003c0025t0004 a0008c0014t0028 a0012c0049t0043 a0027c0038t0005	a0001c0001t0001g0067 a0001c0001t0005g0044 a0001c0001t0046g0034 others(5): Show a0001c0001t0001g0067 a0001c0001t0005g0044 a0001c0001t0046g0034 a0003c0002t0042g0030 a0003c0025t0004g0115 a0008c0014t0028g0021 a0012c0049t0043g0050 a0027c0038t0005g0048	8	110	0.0727	23	c.358 others(42): Show c.3588+6263_3588+6264insACATATATATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131207491	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0080 a0002c0002t0039g0080	1	150	0.0067	23	c.702 others(40): Show c.702+7922_702+7944dupTTTTTTTTTTTTTTTTTTTTTTT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP8L_chr19_15375050_15423988	15392896	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	168	0.0060	23	c.153 others(42): Show c.1536+4253_1536+4254insTTTTTTTTTTTTTTTTTTTTTTT	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP8_chr19_15348385_15384787	15362384	C C	CCCACGGT others(16): Show CCCACGGTCTCCCTCTCCCTCTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02723.hp2 others(1): Show HG02055.hp1 HG02486.hp1 HG02723.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095 others(1): Show a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0097	4	35	0.1143	23	c.116 others(40): Show c.1161-134_1161-133insAAAGAGGGAGAGGGAGACCGTGG	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	9/13			chr19	TogoVar
AKIRIN1_chr1_38986276_39011059	38994672	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01358.hp2 NA18747.hp2 others(2): Show HG00544.hp1 HG01358.hp2 NA18747.hp2 NA18981.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0204 a0001c0001t0001g0023 a0001c0001t0001g0204	5	21	0.2381	23	c.220 others(40): Show c.220+3084_220+3106dupTTTTTTTTTTTTTTTTTTTTTTT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108839471	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG02717.hp1 others(7): Show HG01109.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03225.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 others(4): Show a0001c0001 a0001c0002 a0001c0018 a0001c0022 a0001c0039 a0001c0040 a0001c0048	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0018t0006 a0001c0022t0006 a0001c0039t0002 a0001c0040t0003 a0001c0048t0006	a0001c0001t0001g0202 a0001c0002t0001g0197 a0001c0002t0001g0201 others(7): Show a0001c0001t0001g0202 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0002g0170 a0001c0018t0006g0084 a0001c0022t0006g0057 a0001c0022t0006g0058 a0001c0039t0002g0198 a0001c0040t0003g0061 a0001c0048t0006g0062	10	49	0.2041	23	c.138 others(42): Show c.1380-1766_1380-1765insTTTTTTTTTTCTTTTTTTTTTTT	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	6/15			chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108839471	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02738.hp1 HG02818.hp2 others(10): Show HG02630.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 NA18994.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0007 a0006c0019 others(4): Show a0001c0001 a0002c0007 a0006c0019 a0007c0017 a0007c0024 a0007c0029 a0007c0030	a0001c0001t0003 a0002c0007t0001 a0006c0019t0005 others(6): Show a0001c0001t0003 a0002c0007t0001 a0006c0019t0005 a0007c0017t0002 a0007c0017t0004 a0007c0024t0003 a0007c0024t0004 a0007c0029t0003 a0007c0030t0003	a0001c0001t0003g0096 a0002c0007t0001g0155 a0006c0019t0005g0043 others(9): Show a0001c0001t0003g0096 a0002c0007t0001g0155 a0006c0019t0005g0043 a0007c0017t0002g0266 a0007c0017t0004g0053 a0007c0017t0004g0081 a0007c0017t0004g0082 a0007c0024t0003g0090 a0007c0024t0004g0089 a0007c0029t0003g0087 a0007c0029t0003g0088 a0007c0030t0003g0015	13	52	0.2500	23	c.138 others(42): Show c.1380-1766_1380-1765insTTTTTTTTTTTCTTTTTTTTTTT	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	6/15			chr1	TogoVar
AKNA_chr9_114329156_114392982	114359584	A A	AGTGACTT others(16): Show AGTGACTTACTCCAGGGGAGCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG03041.hp1 others(3): Show HG01109.hp2 HG02559.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 NA18906.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0009 a0003c0012t0009	a0003c0012t0009g0016 a0003c0012t0009g0190 a0003c0012t0009g0191 others(2): Show a0003c0012t0009g0016 a0003c0012t0009g0190 a0003c0012t0009g0191 a0003c0012t0009g0192 a0003c0012t0009g0276	6	386	0.0155	23	c.247 others(34): Show c.2479_2492+9dupGGGGCTCCCCTGGAGTAAGTCAC	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	11/21			chr9	TogoVar
AKNA_chr9_114329156_114392982	114380981	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03130.hp1 HG06807.hp2 HG02257.hp1 HG03130.hp1 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0028 a0003c0006 a0002c0028 a0003c0006	a0002c0028t0029 a0003c0006t0016 a0003c0006t0018 a0002c0028t0029 a0003c0006t0016 a0003c0006t0018	a0002c0028t0029g0026 a0003c0006t0016g0220 a0003c0006t0018g0226 a0002c0028t0029g0026 a0003c0006t0016g0220 a0003c0006t0018g0226	3	293	0.0102	23	c.274 others(36): Show c.274+78_274+79insTTTTTTTTTTTTTTTTTTTTTTT	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	2/21			chr9	TogoVar
AKT3_chr1_243494724_243855243	243525780	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	300	0.0033	23	c.125 others(44): Show c.1252-13377_1252-13355dupCTTTCTTTCTTTCTTTCTTTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525800	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0280 a0001c0001t0007g0280	1	295	0.0034	23	c.125 others(44): Show c.1252-13375_1252-13374insCTTTCTTTCTTTCTTTCTTTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686650	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0005 a0001c0001t0023g0005	1	295	0.0034	23	c.172 others(40): Show c.172+8940_172+8941insTATATATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01978.hp2 HG02080.hp2 others(2): Show HG01257.hp2 HG01978.hp2 HG02080.hp2 HG03834.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0265 others(2): Show a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0004g0024 a0001c0001t0009g0003	5	199	0.0251	23	c.172 others(40): Show c.172+8939_172+8940insATATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686652	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02809.hp2 HG02300.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0232 a0001c0001t0007g0266 a0001c0001t0001g0232 a0001c0001t0007g0266	2	211	0.0095	23	c.172 others(40): Show c.172+8938_172+8939insTATATATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02976.hp1 HG00673.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0004 a0001c0002t0002 a0001c0003t0004	a0001c0002t0002g0238 a0001c0003t0004g0075 a0001c0002t0002g0238 a0001c0003t0004g0075	2	143	0.0140	23	c.65 others(34): Show c.6539_*6540insAAAAAAAAAAAAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18969.hp1 HG00735.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0003g0123 a0001c0003t0002g0038 a0001c0002t0003g0123 a0001c0003t0002g0038	2	348	0.0057	23	c.73+ others(36): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18964.hp2 NA19065.hp2 HG02015.hp1 NA18964.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0190 a0001c0001t0004g0169 a0001c0002t0002g0185 a0001c0001t0001g0190 a0001c0001t0004g0169 a0001c0002t0002g0185	3	185	0.0162	23	c.194 others(38): Show c.194-839_194-838insAAATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01358.hp1 HG02055.hp1 HG01109.hp1 HG01358.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0174 a0001c0001t0006g0337 a0001c0001t0006g0338 a0001c0001t0001g0174 a0001c0001t0006g0337 a0001c0001t0006g0338	3	185	0.0162	23	c.194 others(38): Show c.194-839_194-838insAAAAATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	183	0.0055	23	c.194 others(38): Show c.194-839_194-838insAAAAAAAAATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	183	0.0055	23	c.194 others(38): Show c.194-839_194-838insAAAAAAAAAAAAATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071643	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18977.hp1 NA18971.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0206 a0001c0002t0002g0209 a0001c0002t0002g0206 a0001c0002t0002g0209	2	369	0.0054	23	c.194 others(38): Show c.194-840_194-839insTATATATATATATATATATATAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALG12_chr22_49895229_49923438	49919002	T T	TTCGGGGT others(16): Show TTCGGGGTCGCCCCCACCTTGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03490.hp1 HG03492.hp1 others(1): Show HG02602.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0021 a0001c0002t0003g0063 a0001c0002t0003g0071 a0001c0002t0003g0021 a0001c0002t0003g0063 a0001c0002t0003g0071	4	346	0.0116	23	c.-81 others(32): Show c.-819_-818insGCCCAAGGTGGGGGCGACCCCGA	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		565		chr22	TogoVar
ALG12_chr22_49895229_49923438	49919026	T T	TCGGGGTC others(16): Show TCGGGGTCGCCCCCACCGTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG01243.hp2 others(34): Show HG00642.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0002 a0001c0005 a0002c0003 others(3): Show a0001c0002 a0001c0005 a0002c0003 a0002c0013 a0007c0014 a0008c0017	a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 others(10): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0031 a0001c0002t0034 a0001c0005t0013 a0001c0005t0019 a0001c0005t0020 a0001c0005t0032 a0002c0003t0016 a0002c0013t0028 a0007c0014t0013 a0008c0017t0007	a0001c0002t0003g0021 a0001c0002t0003g0063 a0001c0002t0007g0008 others(20): Show a0001c0002t0003g0021 a0001c0002t0003g0063 a0001c0002t0007g0008 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0083 a0001c0002t0008g0009 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0077 a0001c0002t0008g0084 a0001c0002t0031g0074 a0001c0002t0034g0075 a0001c0005t0013g0085 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0019g0024 a0001c0005t0020g0025 a0001c0005t0032g0088 a0002c0003t0016g0015 a0002c0013t0028g0052 a0007c0014t0013g0089 a0008c0017t0007g0079	37	288	0.1285	23	c.-84 others(32): Show c.-843_-842insGGCCCACGGTGGGGGCGACCCCG	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		589		chr22	TogoVar
ALG12_chr22_49895229_49923438	49919026	T T	TCGGGGTC others(16): Show TCGGGGTCGCCCCCGCCGTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01123.hp2 others(20): Show HG00438.hp2 HG00597.hp2 HG01123.hp2 HG01433.hp1 HG01975.hp2 HG02056.hp1 HG02698.hp1 HG03239.hp1 HG03704.hp1 HG03927.hp2 HG04204.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp2 NA18967.hp2 NA18974.hp2 NA18980.hp2 NA18989.hp2 NA18994.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19065.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0014 a0002c0003t0036 others(2): Show a0002c0003t0004 a0002c0003t0014 a0002c0003t0036 a0002c0003t0037 a0002c0003t0038	a0002c0003t0004g0007 a0002c0003t0004g0013 a0002c0003t0004g0054 others(11): Show a0002c0003t0004g0007 a0002c0003t0004g0013 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0036g0057 a0002c0003t0037g0055 a0002c0003t0038g0051	23	274	0.0839	23	c.-84 others(32): Show c.-843_-842insGGCCCACGGCGGGGGCGACCCCG	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		589		chr22	TogoVar
ALG14_chr1_94969405_95077951	94992554	A A	AGGGTTGA others(16): Show AGGGTTGAAGAGGAGGGGGTTTGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0263 a0001c0001t0140g0263	1	386	0.0026	23	c.421 others(40): Show c.421-9249_421-9248insCCAAACCCCCTCCTCTTCAACCC	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	3/3			chr1	TogoVar
ALG14_chr1_94969405_95077951	95018669	G G	GAGAGCAG others(16): Show GAGAGCAGGAAATTCACCCCCTAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	386	0.0026	23	c.420 others(40): Show c.420+8459_420+8460insATAGGGGGTGAATTTCCTGCTCT	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	3/3			chr1	TogoVar
ALG8_chr11_78095946_78144626	78130361	A A	AAAAAAAA others(16): Show AAAAAAAAAGAAAAGAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG02976.hp2 others(1): Show HG02630.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0022 a0001c0001t0001g0239 a0001c0001t0001g0240	4	293	0.0137	23	c.96- others(38): Show c.96-2926_96-2925insCTTTTTTTTCTTTTCTTTTTTTT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG8_chr11_78095946_78144626	78130361	A A	AAAAAAAA others(16): Show AAAAAAAAAGAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp2 others(82): Show HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp2 HG01071.hp1 HG01074.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02818.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18999.hp1 NA19004.hp2 NA19010.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0003 a0007c0007 others(1): Show a0001c0001 a0001c0003 a0007c0007 a0008c0010	a0001c0001t0001 a0001c0003t0001 a0007c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0007c0007t0001 a0008c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(71): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0003t0001g0036 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0110 a0001c0003t0001g0112 a0007c0007t0001g0098 a0008c0010t0001g0087	85	374	0.2273	23	c.96- others(38): Show c.96-2926_96-2925insCTTTCTTTTCTTTTCTTTTTTTT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01255.hp2 HG01261.hp2 others(13): Show HG00621.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG02055.hp2 HG02056.hp1 HG02129.hp2 HG02559.hp1 HG02698.hp2 HG02970.hp1 HG03098.hp1 HG03490.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0024 a0001c0001t0002 a0001c0001t0009 a0001c0001t0024	a0001c0001t0002g0009 a0001c0001t0002g0135 a0001c0001t0002g0154 others(12): Show a0001c0001t0002g0009 a0001c0001t0002g0135 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0189 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0009g0285 a0001c0001t0024g0148	16	25	0.6400	23	c.895 others(40): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH1_chr14_77667404_77713023	77680677	C C	CTCTTTTT others(16): Show CTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	258	0.0039	23	c.456 others(38): Show c.456-708_456-707insAAAAAAAAAAAAAAAAAAAAAGA	ALKBH1	ENSG00000100601.10	transcript	ENST00000216489.8	protein_coding	3/5			chr14	TogoVar
ALK_chr2_29187774_29926586	29203485	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0064 a0002c0007t0001g0064	1	4	0.2500	23	c.393 others(42): Show c.3938+3663_3938+3685dupAAAAAAAAAAAAAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29272185	G G	GGAGGAGA others(16): Show GGAGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0061 a0002c0001t0001g0061	1	34	0.0294	23	c.204 others(42): Show c.2041+2913_2041+2914insTCTCTCTCTCTCTCTCTCTCCTC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	11/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29571602	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0018 a0001c0009t0005g0018	1	18	0.0556	23	c.953 others(42): Show c.953-39509_953-39487dupAAAAAAAAAAAAAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690278	C C	CCCCCTCC others(16): Show CCCCCTCCCCCTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18971.hp1 HG00544.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0001t0001g0083 a0001c0001t0001g0166	2	252	0.0079	23	c.512 others(40): Show c.512-5405_512-5383dupTCCCCTCCCCCCTCCCCTCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690318	C C	CCCCCCTC others(16): Show CCCCCCTCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	250	0.0040	23	c.512 others(40): Show c.512-5393_512-5371dupTCCCCTCCCCCCTCCCCTCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73404899	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0004 a0001c0011t0001g0004	1	91	0.0110	23	c.325 others(40): Show c.325-3715_325-3693dupTTTTTTTTTTTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(16): Show CGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	31	0.0323	23	c.141 others(38): Show c.1418+32_1418+33insGGGGGGGGGGGGGGGGGGGGGGG	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13			chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040652	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0104 a0003c0004t0001g0104	1	400	0.0025	23	c.449 others(38): Show c.449+671_449+672insGAAAGAAAGAAAGAAAGAAAGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	69	0.0145	23	c.71 others(32): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(16): Show TAAAAAAAAGAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0207 a0001c0008t0001g0207	1	69	0.0145	23	c.71 others(32): Show c.718_*719insAAAAAAAAGAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18985.hp1 NA19004.hp2 others(1): Show NA18967.hp2 NA18985.hp1 NA19004.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0002 a0002c0002t0002 a0001c0005t0002 a0002c0002t0002	a0001c0005t0002g0004 a0002c0002t0002g0002 a0001c0005t0002g0004 a0002c0002t0002g0002	4	29	0.1379	23	c.17 others(34): Show c.1741_*1742insAAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar

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