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
ARHGEF10_chr8_1818926_1963641	1825050	A A	ACCCGCAC others(12): Show ACCCGCACTCCACCTGTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp1 HG01891.hp1 HG03098.hp1	a0001 a0001	a0001c0026 a0001c0141 a0001c0026 a0001c0141	a0001c0026t0007 a0001c0141t0007 a0001c0026t0007 a0001c0141t0007	a0001c0026t0007g0307 a0001c0141t0007g0310 a0001c0026t0007g0307 a0001c0141t0007g0310	2	354	0.0056	19	c.-48 others(34): Show c.-48+964_-48+982dupTCCACCTGTCCCCCCGCAC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825173	T T	TCCACCTG others(12): Show TCCACCTGTCCCCCCGCACC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0013 a0013	a0013c0057 a0013c0057	a0013c0057t0001 a0013c0057t0001	a0013c0057t0001g0278 a0013c0057t0001g0278	1	143	0.0070	19	c.-48 others(36): Show c.-48+1112_-48+1130dupCGCACCCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825188	G G	GCACCCCA others(12): Show GCACCCCACCTGTCCCCCCA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0242 a0001c0008t0002g0242	1	360	0.0028	19	c.-48 others(36): Show c.-48+1093_-48+1094insACACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF11_chr1_156929840_157050742	156936493	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	331	0.0030	19	c.463 others(36): Show c.4630+322_4630+323insATATATATATATATATATA	ARHGEF11	ENSG00000132694.19	transcript	ENST00000368194.8	protein_coding	40/40			chr1	TogoVar
ARHGEF11_chr1_156929840_157050742	156936497	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0287 a0001c0005t0001g0287	1	78	0.0128	19	c.463 others(36): Show c.4630+318_4630+319insATATATATATATATATATA	ARHGEF11	ENSG00000132694.19	transcript	ENST00000368194.8	protein_coding	40/40			chr1	TogoVar
ARHGEF12_chr11_120331413_120494937	120344265	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0019 a0006c0014t0019	a0006c0014t0019g0011 a0006c0014t0019g0011	1	64	0.0156	19	c.32+ others(34): Show c.32+7001_32+7019dupAAAAAAAAAAAAAAAAAAA	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120347151	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03669.hp1 HG01952.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0003 a0001c0001t0009 a0001c0002t0003	a0001c0001t0009g0007 a0001c0002t0003g0027 a0001c0001t0009g0007 a0001c0002t0003g0027	2	258	0.0078	19	c.32+ others(34): Show c.32+9876_32+9877insTTTCTTTCTTTCTTTCTTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40			chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120367353	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0131 a0001c0001t0031g0131	1	72	0.0139	19	c.32+ others(36): Show c.32+30090_32+30108dupTTTTTTTTTTTTTTTTTTT	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120399321	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0034	1	72	0.0139	19	c.33- others(34): Show c.33-6785_33-6767dupAAAAAAAAAAAAAAAAAAA	ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF15_chr17_8305241_8327511	8310116	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0006 a0001c0004t0002g0006	1	18	0.0556	19	c.-27 others(28): Show c.-277_-276insCACACACACACACACACAC	ARHGEF15	ENSG00000198844.12	transcript	ENST00000361926.8	protein_coding		124		chr17	TogoVar
ARHGEF17_chr11_73303276_73374388	73329373	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0040 a0002c0002t0008g0040	1	45	0.0222	19	c.319 others(40): Show c.3193-17509_3193-17508insATATATATTTTTTTTTTTT	ARHGEF17	ENSG00000110237.5	transcript	ENST00000263674.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF1_chr19_41878184_41912452	41896830	A A	ATCCTCTC others(12): Show ATCCTCTCTCACCTCCCCCC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19088.hp2 NA19001.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0162 a0001c0001t0001g0169	2	221	0.0090	19	c.112 others(36): Show c.1121+362_1121+380dupCCCCCCTCCTCTCTCACCT	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF25_chr12_57606435_57622245	57611253	C C	CAGGGGAG others(12): Show CAGGGGAGCACGGGCTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG03139.hp2 others(1): Show HG01891.hp2 HG02145.hp1 HG03139.hp2 NA19240.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0011 a0004c0006t0001g0011	4	422	0.0095	19	c.-64 others(28): Show c.-642_-641insAGGGGAGCACGGGCTGGGG	ARHGEF25	ENSG00000240771.8	transcript	ENST00000286494.9	protein_coding		181		chr12	TogoVar
ARHGEF28_chr5_73621196_73946990	73737523	T T	TTTTCTTT others(12): Show TTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp2 NA19010.hp1 NA18984.hp1 NA18984.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0100 a0002c0003t0002g0048 a0001c0001t0001g0003 a0001c0001t0001g0100 a0002c0003t0002g0048	3	186	0.0161	19	c.34- others(36): Show c.34-12311_34-12310insCTTTTCTTTTCTTTTCTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF33_chr2_38884875_38980454	38934497	A A	ATCCCTCC others(12): Show ATCCCTCCCCCTTCTCTCCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02818.hp2 HG02895.hp1 others(4): Show HG01361.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 NA18522.hp1 NA18966.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0259 others(4): Show a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0002c0002t0001g0192	7	257	0.0272	19	c.506 others(36): Show c.506-1246_506-1228dupCTCTCCCTCCCTCCCCCTT	ARHGEF33	ENSG00000214694.13	transcript	ENST00000409978.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130926810	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0001 a0002c0049t0001	a0002c0049t0001g0070 a0002c0049t0001g0070	1	5	0.2000	19	c.355 others(38): Show c.3553-4132_3553-4114dupTTTTTTTTTTTTTTTTTTT	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF7_chr13_111110310_111310732	111264036	T T	TAATCCCG others(12): Show TAATCCCGGTAGGTTGTGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0032 a0001c0014t0001g0032	1	272	0.0037	19	c.951 others(36): Show c.951-3509_951-3491dupTCCCGGTAGGTTGTGGAAA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111281181	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0099 a0001c0001t0005g0100	2	47	0.0426	19	c.172 others(36): Show c.1725+514_1725+532dupTTTTTTTTTTTTTTTTTTT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID1B_chr6_156772378_157215779	157039322	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp2 HG01884.hp1 HG02895.hp2	a0003 a0011 a0003 a0011	a0003c0004 a0011c0027 a0003c0004 a0011c0027	a0003c0004t0008 a0011c0027t0001 a0003c0004t0008 a0011c0027t0001	a0003c0004t0008g0094 a0011c0027t0001g0110 a0003c0004t0008g0094 a0011c0027t0001g0110	2	80	0.0250	19	c.224 others(40): Show c.2248-45339_2248-45321dupTTTTTTTTTTTTTTTTTTT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID3A_chr19_921035_980939	973104	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02572.hp2 others(5): Show HG02055.hp2 HG02559.hp2 HG02572.hp2 HG02809.hp2 HG03453.hp1 HG03471.hp1 HG03704.hp1 NA18950.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0004c0015	a0001c0001t0074 a0001c0003t0040 a0001c0003t0072 others(5): Show a0001c0001t0074 a0001c0003t0040 a0001c0003t0072 a0001c0003t0073 a0001c0003t0150 a0001c0005t0040 a0001c0006t0149 a0004c0015t0203	a0001c0001t0074g0337 a0001c0003t0040g0306 a0001c0003t0072g0314 others(5): Show a0001c0001t0074g0337 a0001c0003t0040g0306 a0001c0003t0072g0314 a0001c0003t0073g0349 a0001c0003t0150g0049 a0001c0005t0040g0322 a0001c0006t0149g0275 a0004c0015t0203g0340	8	29	0.2759	19	c.10 others(30): Show c.1042_*1060dupTTTTTTTTTTTTTTTTTTT	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	9/9	1061	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID3B_chr15_74536220_74603131	74560031	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0133 a0006c0006t0004g0133	1	18	0.0556	19	c.553 others(38): Show c.553-12821_553-12820insAAAAAAAAAAAAAAAAAAA	ARID3B	ENSG00000179361.18	transcript	ENST00000346246.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARID4B_chr1_235161902_235333179	235176437	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0003 a0003c0005t0001g0003	1	108	0.0093	19	c.344 others(38): Show c.3449-1057_3449-1039dupTTTTTTTTTTTTTTTTTTT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	21/23			chr1	TogoVar
ARID5B_chr10_61896699_62101944	61940965	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0223 a0001c0001t0005g0223	1	191	0.0052	19	c.502 others(34): Show c.502+558_502+559insATATATATATATATATATT	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARID5B_chr10_61896699_62101944	61940966	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	224	0.0045	19	c.502 others(34): Show c.502+558_502+559insATATATATATATATATATA	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9			chr10	TogoVar
ARID5B_chr10_61896699_62101944	62087298	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA19066.hp2 HG01169.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0194 a0001c0001t0004g0127 a0001c0001t0004g0194	2	26	0.0769	19	c.139 others(38): Show c.1398+1400_1398+1418dupAAAAAAAAAAAAAAAAAAA	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARIH1_chr15_72469330_72607987	72513789	C C	CCCTCCCC others(12): Show CCCTCCCCCTCTCCCTCCCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19011.hp2 NA19005.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0095 a0001c0001t0001 a0001c0001t0095	a0001c0001t0001g0166 a0001c0001t0095g0200 a0001c0001t0001g0166 a0001c0001t0095g0200	2	256	0.0078	19	c.376 others(36): Show c.376-4276_376-4275insTCCCCCTCTCCCTCCCTCC	ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARIH1_chr15_72469330_72607987	72534959	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00738.hp1 others(23): Show HG00140.hp2 HG00597.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01952.hp2 HG01978.hp1 HG02602.hp1 HG03654.hp2 NA18940.hp1 NA18940.hp2 NA18949.hp2 NA18955.hp1 NA18965.hp2 NA18978.hp1 NA18978.hp2 NA19000.hp1 NA19002.hp2 NA19012.hp1 NA19054.hp1 NA19075.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0027 a0001c0001t0033 a0001c0001t0036 a0001c0001t0071 a0001c0001t0086 a0001c0001t0090 a0001c0001t0093 a0001c0001t0102 a0001c0001t0103 a0001c0001t0109 a0001c0001t0113 a0001c0005t0034 a0002c0002t0001 a0002c0002t0019	a0001c0001t0001g0237 a0001c0001t0002g0154 a0001c0001t0002g0204 others(23): Show a0001c0001t0001g0237 a0001c0001t0002g0154 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0219 a0001c0001t0002g0241 a0001c0001t0003g0083 a0001c0001t0003g0245 a0001c0001t0003g0251 a0001c0001t0008g0183 a0001c0001t0018g0187 a0001c0001t0027g0070 a0001c0001t0033g0190 a0001c0001t0033g0208 a0001c0001t0036g0079 a0001c0001t0071g0082 a0001c0001t0086g0163 a0001c0001t0090g0207 a0001c0001t0093g0238 a0001c0001t0102g0222 a0001c0001t0103g0236 a0001c0001t0109g0155 a0001c0001t0113g0127 a0001c0005t0034g0197 a0002c0002t0001g0126 a0002c0002t0019g0131	26	132	0.1970	19	c.444 others(36): Show c.444-9850_444-9849insTTTTTTTTTTTTTTTTTTT	ARIH1	ENSG00000166233.15	transcript	ENST00000379887.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARL13B_chr3_93975155_94060678	94034773	A A	ATTGATCT others(12): Show ATTGATCTCTTGTTTATGTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	262	0.0038	19	c.381 others(34): Show c.381-555_381-537dupGATCTCTTGTTTATGTTTT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL14EPL_chr5_116027472_116064489	116040979	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03927.hp1 HG01106.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0293 a0001c0001t0001g0169 a0001c0001t0001g0293	2	58	0.0345	19	c.-10 others(36): Show c.-10+8488_-10+8489insAAAAAAAAAAAAAAAAAAA	ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL14EP_chr11_30318104_30343223	30329271	T T	TGATTCAC others(12): Show TGATTCACGTAATTCATGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02129.hp2 HG02257.hp2 others(15): Show HG01891.hp2 HG02129.hp2 HG02257.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03654.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0010 a0002c0002t0002 a0001c0001t0002 a0001c0001t0010 a0002c0002t0002	a0001c0001t0002g0006 a0001c0001t0002g0044 a0001c0001t0002g0045 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0122 a0001c0001t0010g0123 a0002c0002t0002g0006 a0002c0002t0002g0121	18	398	0.0452	19	c.-63 others(36): Show c.-63-1613_-63-1595dupATTCACGTAATTCATGTAG	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG02074.hp1 others(9): Show HG00408.hp1 HG00558.hp2 HG02074.hp1 HG03130.hp1 HG03704.hp1 NA19002.hp1 NA19003.hp1 NA19011.hp1 NA19077.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0010 a0001c0001t0001g0081 a0001c0001t0001g0084 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0004g0065	12	164	0.0732	19	c.554 others(36): Show c.554+1222_554+1240dupTTTTTTTTTTTTTTTTTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL15_chr5_53878942_54315573	53910632	A A	AATTATAT others(12): Show AATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	137	0.0073	19	c.463 others(38): Show c.463-23920_463-23919insATATATATATATATATAAT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ARL15_chr5_53878942_54315573	54092047	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	181	0.0055	19	c.462 others(38): Show c.462+21154_462+21155insGTGTGTGTGTGTGTGTGTG	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ARL15_chr5_53878942_54315573	54092070	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	199	0.0050	19	c.462 others(38): Show c.462+21131_462+21132insGTGTGTGTGTGTGTGTGTG	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ARL15_chr5_53878942_54315573	54092073	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0203 a0001c0001t0017g0203	1	178	0.0056	19	c.462 others(38): Show c.462+21128_462+21129insTGTGTGTGTGTGTGTGTGT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ARL2_chr11_65009160_65027184	65025779	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA19240.hp1 HG02647.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0020 a0002c0002t0002g0005 a0002c0002t0001g0020 a0002c0002t0002g0005	2	153	0.0131	19	c.39 others(30): Show c.3924_*3925insTTTTTTTTTTTTTTTTTTT	ARL2	ENSG00000213465.8	transcript	ENST00000246747.9	protein_coding		3596		chr11	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG02145.hp2 others(2): Show HG00741.hp2 HG01081.hp2 HG02145.hp2 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0019 a0001c0001t0002g0329 a0001c0001t0003g0037 others(2): Show a0001c0001t0002g0019 a0001c0001t0002g0329 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039	5	119	0.0420	19	c.4-3 others(32): Show c.4-3420_4-3419insAAATATATATATATATATA	ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5			chr10	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	115	0.0087	19	c.4-3 others(32): Show c.4-3420_4-3419insAAAAATATATATATATATA	ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5			chr10	TogoVar
ARL3_chr10_102668731_102719397	102708909	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	395	0.0025	19	c.4-3 others(32): Show c.4-3421_4-3420insTATATATATATATATATAT	ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5			chr10	TogoVar
ARL5C_chr17_39151894_39171161	39153334	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0281 a0002c0002t0002g0281	1	48	0.0208	19	c.35 others(30): Show c.3559_*3560insACACACACACACACACACA	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding		3559		chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69101316	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18947.hp1 NA20905.hp1 HG00597.hp1 NA18947.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0032 a0001c0002t0008g0032 a0001c0002t0002g0032 a0001c0002t0008g0032	3	287	0.0105	19	c.177 others(34): Show c.177-520_177-502dupTTTTTTTTTTTTTTTTTTT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL6IP5_chr3_69079937_69111092	69110838	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	352	0.0028	19	c.62 others(30): Show c.6202_*6203insAAAAAAAAAAAAAAAAAAA	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4747		chr3	TogoVar
ARL6IP6_chr2_152713620_152767396	152746821	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0085 a0003c0002t0004g0085	1	82	0.0122	19	c.587 others(38): Show c.587+11701_587+11719dupTTTTTTTTTTTTTTTTTTT	ARL6IP6	ENSG00000177917.12	transcript	ENST00000326446.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARMC2_chr6_108843422_108979476	108890189	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0239 a0001c0001t0002g0240	2	43	0.0465	19	c.672 others(36): Show c.672-4256_672-4238dupAAAAAAAAAAAAAAAAAAA	ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARMC6_chr19_19028603_19063176	19045493	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01109.hp2 others(62): Show HG00140.hp1 HG01074.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18974.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19011.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0004g0003 a0001c0001t0005g0084 a0001c0001t0008g0141	65	128	0.5078	19	c.279 others(36): Show c.279+1430_279+1431insTTTTTTTTTTTTTTTTTTT	ARMC6	ENSG00000105676.14	transcript	ENST00000535612.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARNT2_chr15_80399382_80602933	80516828	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	11	0.0909	19	c.877 others(36): Show c.877+2423_877+2424insTATATATATATATATATAT	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	8/18			chr15	TogoVar
ARNT_chr1_150804713_150881599	150807005	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	207	0.0048	19	c.50 others(30): Show c.5015_*5016insGAGAGAGAGAGAGAGAGAG	ARNT	ENSG00000143437.21	transcript	ENST00000358595.10	protein_coding		2707		chr1	TogoVar
ARPC2_chr2_218212189_218259348	218215139	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	312	0.0032	19	c.-21 others(30): Show c.-2124_-2123insAAGAAAGAAAGAAAGAAAG	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		2049		chr2	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01975.hp2 others(2): Show HG00621.hp2 HG00735.hp1 HG01975.hp2 HG01981.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0167 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0167	5	18	0.2778	19	c.-16 others(30): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARPC3_chr12_110429823_110455337	110450831	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02015.hp2 HG03209.hp1 others(7): Show HG00408.hp2 HG02015.hp2 HG03209.hp1 HG03669.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18989.hp1 NA18991.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0133 a0001c0001t0001g0206	10	21	0.4762	19	c.-57 others(28): Show c.-572_-571insTTTTTTTTTTTTTTTTTTT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		495		chr12	TogoVar

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