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
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG03209.hp2 HG01109.hp1 HG02055.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0012 a0001c0017 a0002c0012	a0001c0017t0004 a0002c0012t0005 a0001c0017t0004 a0002c0012t0005	a0001c0017t0004g0063 a0002c0012t0005g0034 a0002c0012t0005g0318 a0001c0017t0004g0063 a0002c0012t0005g0034 a0002c0012t0005g0318	3	46	0.0652	17	c.114 others(34): Show c.1144-318_1144-302dupTTTTTTTTTTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70965548	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02145.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0175 a0001c0001t0001g0027 a0001c0001t0001g0175	2	128	0.0156	17	c.42 others(26): Show c.427_*428insAAAAAAAAAAAAAAAAA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding		118		chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	185	0.0054	17	c.-30 others(28): Show c.-3072_-3071insATATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(10): Show ATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	185	0.0054	17	c.-30 others(28): Show c.-3072_-3071insAAATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631707	T T	TATATATA others(10): Show TATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0007g0127 a0001c0001t0007g0128	2	345	0.0058	17	c.-30 others(28): Show c.-3073_-3072insTATATATATATATATAT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2959		chr22	TogoVar
ATP6V1G3_chr1_198518222_198545680	198538891	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02572.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	2	187	0.0107	17	c.82+ others(32): Show c.82+1677_82+1678insTTTTTTTTTTTTTTTTT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP7A_chrX_77905693_78055395	77956726	C C	CTCTTTCT others(10): Show CTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0132 a0003c0004t0009g0132	1	45	0.0222	17	c.-21 others(36): Show c.-21-14895_-21-14894insTCTTTCTTTCTTTCTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22			chrX	TogoVar
ATP7A_chrX_77905693_78055395	78037980	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0068 a0002c0002t0003g0068	1	76	0.0132	17	c.351 others(34): Show c.3512-846_3512-830dupTTTTTTTTTTTTTTTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01891.hp2 HG02886.hp1 others(1): Show HG00323.hp1 HG01891.hp2 HG02886.hp1 HG03831.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0002c0011 a0003c0003 others(1): Show a0002c0002 a0002c0011 a0003c0003 a0005c0012	a0002c0002t0002 a0002c0011t0010 a0003c0003t0005 others(1): Show a0002c0002t0002 a0002c0011t0010 a0003c0003t0005 a0005c0012t0003	a0002c0002t0002g0038 a0002c0011t0010g0082 a0003c0003t0005g0275 others(1): Show a0002c0002t0002g0038 a0002c0011t0010g0082 a0003c0003t0005g0275 a0005c0012t0003g0129	4	139	0.0288	17	c.244 others(36): Show c.2448-3469_2448-3453dupTTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42448396	C C	CTTTACTT others(10): Show CTTTACTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01192.hp1 others(14): Show HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01993.hp2 HG02074.hp2 HG02622.hp2 HG02738.hp2 HG03139.hp2 HG03486.hp1 HG03927.hp2 HG03942.hp2 NA18988.hp2 NA18989.hp1 NA19030.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0001t0029 a0001c0002t0004 a0001c0002t0005 a0001c0003t0008 a0001c0003t0021	a0001c0001t0002g0015 a0001c0001t0002g0054 a0001c0001t0002g0061 others(14): Show a0001c0001t0002g0015 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0130 a0001c0001t0002g0152 a0001c0001t0003g0206 a0001c0001t0008g0065 a0001c0001t0008g0100 a0001c0001t0009g0202 a0001c0001t0009g0217 a0001c0001t0017g0081 a0001c0001t0024g0007 a0001c0001t0029g0028 a0001c0002t0004g0013 a0001c0002t0005g0191 a0001c0003t0008g0144 a0001c0003t0021g0190	17	122	0.1393	17	c.289 others(36): Show c.2897-1753_2897-1752insAAAAAAAAAAAAGTAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465711	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG06807.hp2 HG01243.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0068 a0001c0002t0001 a0001c0004t0068	a0001c0002t0001g0039 a0001c0004t0068g0071 a0001c0002t0001g0039 a0001c0004t0068g0071	2	97	0.0206	17	c.77- others(32): Show c.77-3263_77-3247dupTCTTTCTTTCTTTCTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25481153	A A	AGGGAGAG others(10): Show AGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00738.hp1 others(71): Show HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18977.hp1 NA18986.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(66): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0030 a0001c0001t0040 a0001c0001t0042 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0072 a0001c0002t0001 a0001c0002t0005 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0018 a0001c0003t0027 a0001c0003t0052 a0001c0003t0060 a0001c0003t0062 a0001c0003t0065 a0001c0003t0069 a0001c0003t0073 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0022 a0001c0004t0049 a0001c0004t0068 a0001c0005t0012 a0001c0005t0021 a0001c0005t0023 a0001c0005t0044 a0001c0006t0006 a0001c0006t0020 a0001c0006t0043 a0001c0007t0001 a0001c0007t0005 a0001c0007t0007 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057 a0001c0009t0037 a0001c0010t0012 a0001c0010t0056 a0001c0015t0008 a0001c0016t0045 a0001c0017t0036 a0001c0018t0024 a0001c0020t0019	a0001c0001t0001g0036 a0001c0001t0003g0093 a0001c0001t0004g0040 others(71): Show a0001c0001t0001g0036 a0001c0001t0003g0093 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0005g0102 a0001c0001t0008g0073 a0001c0001t0010g0100 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0006 a0001c0001t0015g0082 a0001c0001t0016g0104 a0001c0001t0018g0041 a0001c0001t0025g0009 a0001c0001t0030g0091 a0001c0001t0040g0038 a0001c0001t0042g0059 a0001c0001t0048g0122 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0001t0053g0114 a0001c0001t0072g0027 a0001c0002t0001g0039 a0001c0002t0005g0034 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0006g0078 a0001c0003t0007g0109 a0001c0003t0008g0010 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0014g0111 a0001c0003t0018g0057 a0001c0003t0027g0047 a0001c0003t0052g0113 a0001c0003t0060g0115 a0001c0003t0062g0024 a0001c0003t0065g0033 a0001c0003t0069g0012 a0001c0003t0073g0001 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 a0001c0004t0004g0048 a0001c0004t0005g0088 a0001c0004t0022g0054 a0001c0004t0049g0086 a0001c0004t0068g0071 a0001c0005t0012g0020 a0001c0005t0021g0030 a0001c0005t0023g0003 a0001c0005t0044g0018 a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0006t0043g0095 a0001c0007t0001g0081 a0001c0007t0005g0021 a0001c0007t0007g0094 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070 a0001c0009t0037g0008 a0001c0010t0012g0090 a0001c0010t0056g0002 a0001c0015t0008g0015 a0001c0016t0045g0105 a0001c0017t0036g0019 a0001c0018t0024g0066 a0001c0020t0019g0067	74	120	0.6167	17	c.221 others(36): Show c.221+12045_221+12061dupCCGTGGGGAGAGGGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25481167	C C	CGTGGGGA others(10): Show CGTGGGGAGAGGGAGACT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0028 a0001c0019t0007g0028	1	120	0.0083	17	c.221 others(36): Show c.221+12061_221+12062insCTGTGGGGAGAGGGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	14	0.0714	17	c.163 others(36): Show c.1630+3742_1630+3758dupTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP9A_chr20_51591514_51773390	51623801	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0051 a0001c0003t0048 a0001c0003t0051	a0001c0003t0048g0112 a0001c0003t0051g0113 a0001c0003t0048g0112 a0001c0003t0051g0113	2	149	0.0134	17	c.201 others(36): Show c.2016+1390_2016+1391insCTTTCTTTCTTTCTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	18/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp2 HG03579.hp2 others(1): Show HG02486.hp2 HG03225.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0014 a0001c0003t0029 a0001c0005t0009 others(1): Show a0001c0003t0014 a0001c0003t0029 a0001c0005t0009 a0001c0005t0040	a0001c0003t0014g0154 a0001c0003t0029g0107 a0001c0005t0009g0309 others(1): Show a0001c0003t0014g0154 a0001c0003t0029g0107 a0001c0005t0009g0309 a0001c0005t0040g0010	4	52	0.0769	17	c.129 others(36): Show c.1294-1739_1294-1738insCCCCCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658898	G G	GGGGGGGG others(10): Show GGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0155 a0001c0018t0009g0155	1	310	0.0032	17	c.129 others(36): Show c.1294-1749_1294-1748insTCCCCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02647.hp2 HG00099.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0015 a0001c0002t0004 a0001c0002t0015	a0001c0002t0004g0289 a0001c0002t0015g0047 a0001c0002t0004g0289 a0001c0002t0015g0047	2	82	0.0244	17	c.328 others(34): Show c.328-5757_328-5741dupTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51765642	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(16): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG04228.hp2 NA18970.hp1 NA19005.hp1 NA19065.hp1 NA19080.hp2 NA19091.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0033 a0001c0002t0003 a0001c0002t0004 a0001c0003t0025 a0001c0004t0034 a0001c0004t0068	a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 others(16): Show a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0005g0063 a0001c0001t0006g0062 a0001c0001t0006g0098 a0001c0001t0007g0072 a0001c0001t0008g0073 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0021g0100 a0001c0001t0033g0096 a0001c0002t0003g0066 a0001c0002t0004g0065 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0003t0025g0095 a0001c0004t0034g0064 a0001c0004t0068g0097	19	213	0.0892	17	c.68+ others(32): Show c.68+2659_68+2660insTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071398	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0146 a0001c0003t0003g0146	1	251	0.0040	17	c.119 others(34): Show c.119+1869_119+1870insTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29			chr18	TogoVar
ATPAF1_chr1_46627737_46673364	46654528	T T	TTTATTTT others(10): Show TTTATTTTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	191	0.0052	17	c.490 others(32): Show c.490-662_490-661insTAATAATAATAAAATAA	ATPAF1	ENSG00000123472.13	transcript	ENST00000574428.6	protein_coding	4/8			chr1	TogoVar
ATPAF2_chr17_18013021_18044168	18019177	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0031 a0002c0002t0003g0031	1	326	0.0031	17	c.733 others(32): Show c.733-492_733-491insGTGTGTGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATPAF2_chr17_18013021_18044168	18019186	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	313	0.0032	17	c.733 others(32): Show c.733-501_733-500insTGTGTGTGTGTGTGTGT	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATPSCKMT_chr5_10220507_10254888	10249897	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0172 a0002c0005t0006g0172	1	231	0.0043	17	c.-25 others(24): Show c.-25_-24insTTTTTTTTTTTTTTTTT	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding		10		chr5	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	52	0.0192	17	c.153 others(36): Show c.1532+8050_1532+8051insATATATATATATATATT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01258.hp1 HG01515.hp2 others(6): Show HG01071.hp2 HG01258.hp1 HG01515.hp2 HG02055.hp2 HG02135.hp2 HG02818.hp2 HG03834.hp2 HG06807.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0029 a0001c0002t0028 a0001c0006t0009 a0002c0014t0009	a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0003g0059 others(6): Show a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0003g0059 a0001c0001t0008g0081 a0001c0001t0008g0084 a0001c0001t0029g0076 a0001c0002t0028g0077 a0001c0006t0009g0085 a0002c0014t0009g0071	9	42	0.2143	17	c.317 others(38): Show c.3176-13226_3176-13210dupTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115403257	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG03195.hp1 others(1): Show HG02280.hp1 HG02572.hp1 HG03195.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0014 a0001c0001t0043 a0001c0001t0048 others(1): Show a0001c0001t0014 a0001c0001t0043 a0001c0001t0048 a0002c0004t0007	a0001c0001t0014g0001 a0001c0001t0043g0098 a0001c0001t0048g0123 others(1): Show a0001c0001t0014g0001 a0001c0001t0043g0098 a0001c0001t0048g0123 a0002c0004t0007g0010	4	39	0.1026	17	c.326 others(36): Show c.3269+8508_3269+8524dupTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	90	0.0111	17	c.390 others(38): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTTCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115802021	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0018 a0001c0001t0013g0018	1	117	0.0085	17	c.390 others(38): Show c.3904-45856_3904-45855insCACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115802046	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01123.hp2 others(10): Show HG00741.hp1 HG01071.hp1 HG01123.hp2 HG01361.hp1 HG01952.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp2 HG03834.hp1 NA18906.hp1 NA19003.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0046 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0003t0031 a0001c0006t0033 a0002c0004t0007	a0001c0001t0001g0104 a0001c0001t0006g0107 a0001c0001t0010g0017 others(10): Show a0001c0001t0001g0104 a0001c0001t0006g0107 a0001c0001t0010g0017 a0001c0001t0046g0106 a0001c0002t0001g0050 a0001c0002t0005g0042 a0001c0002t0005g0044 a0001c0002t0005g0051 a0001c0002t0005g0055 a0001c0002t0006g0089 a0001c0003t0031g0015 a0001c0006t0033g0035 a0002c0004t0007g0010	13	56	0.2321	17	c.390 others(38): Show c.3904-45831_3904-45830insCACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	7	0.1429	17	c.401 others(36): Show c.4018+8443_4018+8459dupAAAAAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115868822	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0044 a0002c0008t0044	a0002c0008t0044g0061 a0002c0008t0044g0061	1	11	0.0909	17	c.401 others(38): Show c.4018+20840_4018+20856dupTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp2 HG01074.hp1 HG01358.hp2	a0003 a0003	a0003c0008 a0003c0017 a0003c0008 a0003c0017	a0003c0008t0005 a0003c0017t0021 a0003c0008t0005 a0003c0017t0021	a0003c0008t0005g0198 a0003c0017t0021g0197 a0003c0008t0005g0198 a0003c0017t0021g0197	2	108	0.0185	17	c.411 others(36): Show c.411-23145_411-23144insATATATATATATTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3519006	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0013 a0002c0012t0013	a0002c0012t0013g0161 a0002c0012t0013g0161	1	162	0.0062	17	c.411 others(36): Show c.411-16233_411-16232insAAAAAAAAAAAAAAAAA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19091.hp1 HG02615.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0005 a0002c0002t0006 a0001c0005t0005 a0002c0002t0006	a0001c0005t0005g0080 a0002c0002t0006g0057 a0001c0005t0005g0080 a0002c0002t0006g0057	2	12	0.1667	17	c.621 others(36): Show c.6217+4234_6217+4250dupTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	17	0.0588	17	c.455 others(34): Show c.4557+880_4557+896dupTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp2 HG02717.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0006 a0001c0001t0002 a0001c0009t0006	a0001c0001t0002g0181 a0001c0009t0006g0195 a0001c0001t0002g0181 a0001c0009t0006g0195	2	64	0.0313	17	c.380 others(36): Show c.3809+5058_3809+5059insATATATATATATATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAATA others(10): Show CTATAATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	85	0.0118	17	c.-49 others(28): Show c.-4990_-4989insTATATATATATATTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0192 a0003c0003t0001g0192	1	99	0.0101	17	c.394 others(36): Show c.3946-4681_3946-4680insAAAAATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	99	0.0101	17	c.394 others(36): Show c.3946-4681_3946-4680insAAAAAAATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528880	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20129.hp2 HG00642.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0014 a0001c0006t0001g0023 a0001c0006t0001g0014 a0001c0006t0001g0023	2	310	0.0065	17	c.394 others(36): Show c.3946-4682_3946-4681insTATATATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03669.hp1 NA18978.hp2 others(2): Show HG02083.hp1 HG03669.hp1 NA18978.hp2 NA18987.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(2): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0122	5	116	0.0431	17	c.335 others(36): Show c.3358-1712_3358-1696dupTTTTTTTTTTTTTTTTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA20752.hp1 HG00408.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0155 a0001c0001t0002g0099 a0001c0001t0002g0155	2	283	0.0071	17	c.117 others(38): Show c.1173+11227_1173+11228insAAAAAAAAAAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(10): Show AAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0112 a0001c0001t0004g0113	2	283	0.0071	17	c.117 others(38): Show c.1173+11227_1173+11228insAAAAATAATAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAATAA others(10): Show AAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19057.hp1 NA18988.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0093 a0001c0001t0002g0046 a0001c0001t0002g0093	2	283	0.0071	17	c.117 others(38): Show c.1173+11227_1173+11228insAATAATAATAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20300.hp1 HG01361.hp2 NA20300.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0001 a0003c0022t0001	a0003c0022t0001g0104 a0003c0022t0001g0146 a0003c0022t0001g0104 a0003c0022t0001g0146	2	42	0.0476	17	c.191 others(36): Show c.1917+9512_1917+9528dupAAAAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16390680	T T	TACACACA others(10): Show TACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0058 a0002c0003t0031g0058	1	68	0.0147	17	c.-16 others(38): Show c.-160-62211_-160-62210insTGTGTGTGTGTGTGTGT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0012 a0002c0039t0012	a0002c0039t0012g0030 a0002c0039t0012g0030	1	142	0.0070	17	c.-16 others(38): Show c.-160-66817_-160-66801dupTTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16440649	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03041.hp1 NA18522.hp2 HG01255.hp2 HG03041.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0004 a0003c0002 a0001c0008 a0002c0004 a0003c0002	a0001c0008t0002 a0002c0004t0003 a0003c0002t0010 a0001c0008t0002 a0002c0004t0003 a0003c0002t0010	a0001c0008t0002g0137 a0002c0004t0003g0166 a0003c0002t0010g0015 a0001c0008t0002g0137 a0002c0004t0003g0166 a0003c0002t0010g0015	3	124	0.0242	17	c.-16 others(38): Show c.-161+45322_-161+45323insCTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18945.hp2 HG02273.hp1 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0084 a0002c0002t0001g0074 a0002c0002t0001g0084	2	25	0.0800	17	c.251 others(34): Show c.251+9776_251+9792dupTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar

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