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
ACP4_chr19_50785415_50800219	50786851	TACACACA others(7): Show TACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(84): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01981.hp2 HG02040.hp2 HG02074.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03516.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18954.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18974.hp2 NA18983.hp2 NA18992.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19056.hp1 NA19070.hp1 NA19080.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0009 others(3): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0002c0002t0001 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0005t0001g0015 a0001c0009t0001g0013 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0054 a0003c0004t0001g0001 a0004c0006t0001g0023 a0004c0006t0001g0036	87	130	0.6692	-14	c.-35 others(25): Show c.-3563_-3550delACACACACACACAC	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding		3563		chr19	TogoVar
ACP7_chr19_39079368_39116493	39102118	TCTCACAC others(7): Show TCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18979.hp1 HG03471.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0005 a0001c0005t0001 a0001c0002t0005 a0001c0005t0001	a0001c0002t0005g0324 a0001c0005t0001g0034 a0001c0002t0005g0324 a0001c0005t0001g0034	2	207	0.0097	-14	c.111 others(31): Show c.1113+583_1113+596delTCACACACACACAC	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39102753	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02559.hp2 HG01884.hp2 HG02145.hp2 HG02559.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0011 a0001c0010t0018g0139 a0001c0010t0018g0011 a0001c0010t0018g0139	3	400	0.0075	-14	c.111 others(33): Show c.1113+1220_1113+1233delTTCTTTCTTTCTCT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG1_chr15_78162468_78239565	78215772	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0294 a0001c0006t0010g0294	1	347	0.0029	-14	c.132 others(31): Show c.132-7684_132-7671delCTTTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG2_chr19_6130667_6198091	6184832	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	62	0.0161	-14	c.132 others(31): Show c.1323-577_1323-564delAAAAAAAAAAAAAA	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6190812	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	30	0.0333	-14	c.35 others(29): Show c.35+147_*35+160delACACACACACACAC	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6197504	CCCCCTTT others(7): Show CCCCCTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0242 a0003c0005t0001g0242	1	231	0.0043	-14	c.48 others(25): Show c.4873_*4886delCCCCTTTTTTTTTT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding		4414		chr19	TogoVar
ACSF2_chr17_50421218_50479837	50475224	GGCCAGGC others(7): Show GGCCAGGCTGGTCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	318	0.0031	-14	c.67 others(23): Show c.673_*686delGCCAGGCTGGTCCT	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding		388		chr17	TogoVar
ACSF3_chr16_89088852_89161233	89093248	CCAACAGT others(7): Show CCAACAGTCTCGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0021 a0004c0004t0021	a0004c0004t0021g0108 a0004c0004t0021g0108	1	366	0.0027	-14	c.-94 others(23): Show c.-941_-928delCAACAGTCTCGCTT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		603		chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147510	GGTCACAG others(7): Show GGTCACAGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0066 a0002c0003t0004g0066	1	366	0.0027	-14	c.161 others(33): Show c.1613+1463_1613+1476delTCACAGAGTGAGCG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL3_chr2_222856036_222949639	222914234	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0035 a0001c0001t0001g0036	2	41	0.0488	-14	c.379 others(31): Show c.379-2054_379-2041delGTGTGTGTGTGTGT	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSL4_chrX_109636335_109738257	109727657	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02559.hp2 HG02647.hp1 others(5): Show HG01106.hp1 HG02559.hp2 HG02647.hp1 HG02886.hp2 HG03225.hp1 HG03579.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0209 a0001c0001t0003g0187 a0001c0001t0003g0188 others(4): Show a0001c0001t0001g0209 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0005g0008	8	24	0.3333	-14	c.-66 others(31): Show c.-66+5468_-66+5481delCACACACACACACA	ACSL4	ENSG00000068366.21	transcript	ENST00000672401.1	protein_coding	1/15			chrX	TogoVar
ACSL5_chr10_112369116_112433376	112378227	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02976.hp1 HG03098.hp2 others(2): Show HG01978.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0046	5	26	0.1923	-14	c.-30 others(31): Show c.-30+3976_-30+3989delTTTTTTTTTTTTTT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112398041	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02622.hp1 others(3): Show HG02258.hp1 HG02572.hp1 HG02622.hp1 HG02922.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0002g0030 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0004g0032 a0001c0001t0004g0200	6	340	0.0176	-14	c.157 others(29): Show c.157-831_157-818delTTTTTTTTTTTTTT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL6_chr5_131944973_132016658	131964176	GCTGACAA others(7): Show GCTGACAACAAAACC	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	324	0.0031	-14	c.171 others(33): Show c.1714-1512_1714-1499delGGTTTTGTTGTCAG	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	17/20			chr5	TogoVar
ACSM1_chr16_20618235_20702680	20627869	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01515.hp1 others(7): Show HG01074.hp2 HG01168.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02132.hp2 HG02698.hp2 HG04199.hp2 NA19062.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0144 others(6): Show a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0144 a0001c0001t0002g0172 a0001c0001t0002g0212 a0001c0001t0002g0261 a0001c0001t0002g0296 a0001c0002t0001g0001 a0001c0002t0001g0072	10	75	0.1333	-14	c.130 others(31): Show c.1300-567_1300-554delATATATATATATAT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20635626	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	316	0.0032	-14	c.129 others(33): Show c.1299+1099_1299+1112delGAAAGAAAGAAAGA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20644538	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0279 a0001c0005t0001g0279	1	83	0.0120	-14	c.993 others(31): Show c.993-3968_993-3955delGTGTGTGTGTGTGT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	7/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20657267	GTTGGGTT others(7): Show GTTGGGTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02572.hp1 others(4): Show HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 others(4): Show a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0099	7	316	0.0222	-14	c.992 others(31): Show c.992+4513_992+4526delAAAAACAAACCCAA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	7/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20657286	GTTTGTTT others(7): Show GTTTGTTTTTTTGGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG02145.hp2 HG03130.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0066 a0001c0007t0001g0068 a0001c0007t0001g0066 a0001c0007t0001g0068	2	316	0.0063	-14	c.992 others(31): Show c.992+4494_992+4507delACCAAAAAAACAAA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	7/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20685822	AAAAAAAA others(7): Show AAAAAAAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG01516.hp1 HG00733.hp2 HG01081.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060	3	316	0.0095	-14	c.193 others(29): Show c.193-433_193-420delGTTTGTTTTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	2/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20691751	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02717.hp2 HG02895.hp2 others(6): Show HG00408.hp1 HG02717.hp2 HG02895.hp2 HG02965.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0017 a0001c0001t0002g0206 a0001c0001t0002g0207 others(6): Show a0001c0001t0002g0017 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0002t0001g0038 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169	9	53	0.1698	-14	c.-51 others(29): Show c.-51-526_-51-513delCACACACACACACA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	1/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20697556	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01515.hp1 others(10): Show HG00140.hp1 HG01069.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02148.hp1 HG02293.hp1 HG02300.hp1 NA18977.hp1 NA19055.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(7): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0006g0009	13	37	0.3514	-14	c.-52 others(27): Show c.-52+66_-52+79delGTGTGTGTGTGTGT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	1/13			chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20483569	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02257.hp2 others(7): Show HG01884.hp1 HG02109.hp1 HG02257.hp2 HG02615.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0034 a0003c0003t0005g0035 a0003c0003t0005g0164 others(5): Show a0003c0003t0005g0034 a0003c0003t0005g0035 a0003c0003t0005g0164 a0003c0003t0005g0244 a0003c0003t0005g0271 a0003c0003t0005g0272 a0003c0003t0005g0273 a0003c0003t0005g0362	10	37	0.2703	-14	c.162 others(31): Show c.1629+412_1629+425delAAAAAAAAAAAAAA	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20535485	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0008 a0010c0022t0008	a0010c0022t0008g0316 a0010c0022t0008g0316	1	71	0.0141	-14	c.17 others(25): Show c.1759_*1772delCACACACACACACA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding		740		chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20539288	ACCTATGA others(7): Show ACCTATGACAATTAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02280.hp1 others(5): Show HG01884.hp2 HG02109.hp1 HG02280.hp1 HG02615.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0017 a0006c0010t0003 a0006c0010t0017	a0006c0010t0003g0012 a0006c0010t0003g0119 a0006c0010t0003g0120 others(4): Show a0006c0010t0003g0012 a0006c0010t0003g0119 a0006c0010t0003g0120 a0006c0010t0003g0121 a0006c0010t0003g0122 a0006c0010t0017g0044 a0006c0010t0017g0045	8	386	0.0207	-14	c.162 others(33): Show c.1629+1352_1629+1365delCTAATTGTCATAGG	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	13/13			chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566247	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0020 a0006c0020t0020	a0006c0020t0020g0042 a0006c0020t0020g0042	1	34	0.0294	-14	c.-8- others(29): Show c.-8-1408_-8-1395delTATATATATATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421615	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18956.hp1 NA19068.hp1 others(1): Show NA18951.hp1 NA18956.hp1 NA19068.hp1 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0177 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0177 a0001c0001t0001g0258 a0003c0003t0001g0142	4	32	0.1250	-14	c.767 others(29): Show c.767+243_767+256delTATATATATATATA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20436020	ATTCTTTC others(7): Show ATTCTTTCTTTCTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02630.hp2 HG00639.hp2 HG02630.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0036 a0001c0001 a0024c0036	a0001c0001t0002 a0024c0036t0013 a0001c0001t0002 a0024c0036t0013	a0001c0001t0002g0132 a0024c0036t0013g0262 a0001c0001t0002g0132 a0024c0036t0013g0262	2	409	0.0049	-14	c.130 others(33): Show c.1309-1019_1309-1006delTTTTCTTTCTTTCT	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS2_chr20_34871612_34932959	34919576	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0014 a0008c0012t0001g0014	1	121	0.0083	-14	c.972 others(27): Show c.972+35_972+48delGTGTGTGTGTGTGT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81107503	AATATATA others(7): Show AATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp1 HG01168.hp2 others(7): Show HG00099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG02486.hp2 HG02630.hp1 HG03490.hp1 HG03492.hp2 HG04115.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0235 a0001c0001t0001g0249 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0235 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0003g0240 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0031g0250 a0001c0002t0002g0246	10	246	0.0407	-14	c.312 others(31): Show c.312-2049_312-2036delCATATATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81107511	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03492.hp1 HG03942.hp2 others(3): Show HG02683.hp1 HG03492.hp1 HG03942.hp2 NA18965.hp1 NA19063.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0062 a0001c0001t0001g0225 a0001c0001t0003g0209 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0225 a0001c0001t0003g0209 a0001c0001t0004g0125 a0001c0002t0002g0036 a0001c0002t0002g0227	6	86	0.0698	-14	c.312 others(31): Show c.312-2013_312-2000delTATATATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA1_chr1_229426245_229439094	229435458	GTCCCTCT others(7): Show GTCCCTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03453.hp2 HG03516.hp2 HG01243.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0006 a0001c0001t0001g0021	3	425	0.0071	-14	c.-14 others(25): Show c.-1481_-1468delGAGAGAGAGAGGGA	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1365		chr1	TogoVar
ACTA1_chr1_229426245_229439094	229435461	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG02738.hp1 HG02896.hp2 HG02897.hp2 HG03831.hp2 NA19003.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0001g0002 a0001c0001t0002g0001	6	88	0.0682	-14	c.-14 others(25): Show c.-1484_-1471delAGAGAGAGAGAGAG	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1368		chr1	TogoVar
ACTC1_chr15_34785230_34800549	34791307	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	109	0.0092	-14	c.809 others(27): Show c.809-26_809-13delTGTGTGTGTGTGTG	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding	5/6			chr15	TogoVar
ACTG2_chr2_73888008_73924865	73904248	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	159	0.0063	-14	c.255 others(31): Show c.255+1771_255+1784delAAAAAAAAAAAAAA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904767	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0330 a0001c0002t0003g0330	1	271	0.0037	-14	c.255 others(31): Show c.255+2281_255+2294delGTGTGTGTGTATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904769	GTGTGTGT others(7): Show GTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp2 HG03130.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0346 a0001c0002t0003g0043 a0001c0002t0003g0346	2	391	0.0051	-14	c.255 others(31): Show c.255+2283_255+2296delGTGTGTGTATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904777	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02071.hp1 HG02615.hp1 others(1): Show HG00735.hp1 HG02071.hp1 HG02615.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0063 a0001c0002t0006g0004 a0001c0002t0006g0055 a0001c0002t0003g0063 a0001c0002t0006g0004 a0001c0002t0006g0055	4	262	0.0153	-14	c.255 others(31): Show c.255+2314_255+2327delTATATATATATATA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179562346	CGCTACCT others(7): Show CGCTACCTAGGTTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01175.hp2 others(7): Show HG01069.hp1 HG01071.hp1 HG01175.hp2 HG02572.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0099 a0001c0001t0001g0100	10	378	0.0265	-14	c.-74 others(23): Show c.-746_-733delGCTACCTAGGTTTA	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding		579		chr3	TogoVar
ACTL6B_chr7_100638097_100661448	100652999	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02630.hp2 others(2): Show HG02257.hp1 HG02280.hp1 HG02630.hp2 HG02886.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0045 a0001c0001t0001g0209 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0209 a0001c0001t0001g0228 a0001c0006t0001g0182	5	42	0.1190	-14	c.369 others(31): Show c.369+2006_369+2019delTTTTTTTTTTTTTT	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	4/13			chr7	TogoVar
ACTL7A_chr9_108857266_108868756	108858823	GACACACA others(7): Show GACACACACACATAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG02015.hp2 others(31): Show HG00673.hp1 HG01074.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02451.hp2 HG02572.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18982.hp2 NA18998.hp1 NA19000.hp1 NA19067.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0009 others(1): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0009t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0009t0001 a0003c0003t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0009t0001g0000 others(1): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0009t0001g0000 a0003c0003t0001g0000	34	349	0.0974	-14	c.-34 others(25): Show c.-3499_-3486delACACACACACATAC	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding		3442		chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108858823	GACACACA others(7): Show GACACACACACATAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01074.hp2 HG02015.hp2 others(32): Show HG00673.hp2 HG01074.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18961.hp1 NA18982.hp1 NA18998.hp1 NA19000.hp2 NA19067.hp2 NA19077.hp2 NA19078.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0003c0007t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0006t0001g0000 a0003c0007t0001g0000	35	341	0.1026	-14	c.-29 others(25): Show c.-2907_-2894delGTATGTGTGTGTGT	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding		2838		chr9	TogoVar
ACTL8_chr1_17750333_17832063	17796306	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01070.hp2 others(81): Show HG00323.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01952.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 NA18906.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18986.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0016 a0002c0002 a0003c0007 a0005c0014 a0007c0012	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0008t0001 a0001c0016t0001 a0002c0002t0001 a0002c0002t0009 a0003c0007t0001 a0005c0014t0001 a0007c0012t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0111 others(81): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0156 a0001c0001t0001g0230 a0001c0001t0001g0328 a0001c0001t0001g0341 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0005g0325 a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0080 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0130 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0164 a0001c0003t0001g0189 a0001c0003t0001g0198 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0215 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0260 a0001c0003t0001g0309 a0001c0003t0001g0314 a0001c0003t0001g0316 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0003t0001g0351 a0001c0003t0002g0205 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0003g0355 a0001c0006t0001g0128 a0001c0006t0001g0204 a0001c0006t0001g0229 a0001c0006t0001g0313 a0001c0006t0001g0319 a0001c0008t0001g0040 a0001c0008t0001g0109 a0001c0008t0001g0350 a0001c0016t0001g0226 a0002c0002t0001g0055 a0002c0002t0001g0064 a0002c0002t0001g0201 a0002c0002t0001g0214 a0002c0002t0001g0224 a0002c0002t0001g0246 a0002c0002t0001g0264 a0002c0002t0001g0335 a0002c0002t0009g0225 a0003c0007t0001g0200 a0005c0014t0001g0221 a0007c0012t0001g0340	84	100	0.8400	-14	c.-24 others(33): Show c.-24-26661_-24-26648delGTGTGTGTGTGTGT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17802424	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0263 a0002c0004t0001g0263	1	214	0.0047	-14	c.-24 others(33): Show c.-24-20546_-24-20533delGTGTGTGTGTGTGT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236689300	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp2 HG02109.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0056 a0001c0003t0005g0048 a0001c0001t0005g0056 a0001c0003t0005g0048	2	150	0.0133	-14	c.126 others(31): Show c.126+2527_126+2540delTATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236693177	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01255.hp1 HG00639.hp1 HG01081.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329	3	22	0.1364	-14	c.126 others(31): Show c.126+6403_126+6416delCACACACACACACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236752743	AGGTTTCA others(7): Show AGGTTTCACTATGTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0021 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0030 a0001c0031 a0003c0026 a0003c0032 a0004c0012 a0005c0017 a0006c0023 a0007c0022 a0008c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0020 a0001c0003t0021 a0001c0004t0002 a0001c0004t0005 a0001c0006t0002 a0001c0006t0008 a0001c0007t0004 a0001c0007t0015 a0001c0009t0003 a0001c0010t0002 a0001c0011t0005 a0001c0013t0002 a0001c0013t0023 a0001c0014t0002 a0001c0015t0016 a0001c0016t0003 a0001c0021t0001 a0001c0024t0003 a0001c0025t0006 a0001c0027t0001 a0001c0028t0026 a0001c0030t0002 a0001c0031t0005 a0003c0026t0005 a0003c0032t0017 a0004c0012t0008 a0005c0017t0024 a0006c0023t0001 a0007c0022t0001 a0008c0033t0003	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(267): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0002g0154 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0112 a0001c0001t0003g0136 a0001c0001t0003g0141 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0248 a0001c0001t0003g0266 a0001c0001t0003g0273 a0001c0001t0003g0277 a0001c0001t0003g0282 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0302 a0001c0001t0003g0331 a0001c0001t0003g0336 a0001c0001t0003g0342 a0001c0001t0004g0038 a0001c0001t0004g0060 a0001c0001t0004g0069 a0001c0001t0004g0076 a0001c0001t0004g0118 a0001c0001t0004g0198 a0001c0001t0004g0245 a0001c0001t0005g0056 a0001c0001t0005g0081 a0001c0001t0005g0149 a0001c0001t0005g0179 a0001c0001t0006g0134 a0001c0001t0009g0073 a0001c0001t0009g0092 a0001c0001t0009g0119 a0001c0001t0009g0150 a0001c0001t0009g0185 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0011g0037 a0001c0001t0011g0074 a0001c0001t0011g0091 a0001c0001t0012g0020 a0001c0001t0012g0110 a0001c0001t0014g0083 a0001c0001t0014g0085 a0001c0001t0014g0087 a0001c0001t0015g0117 a0001c0001t0018g0089 a0001c0001t0018g0307 a0001c0001t0019g0249 a0001c0001t0019g0251 a0001c0001t0025g0011 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0080 a0001c0002t0002g0088 a0001c0002t0002g0160 a0001c0002t0002g0163 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0204 a0001c0002t0002g0208 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0002t0002g0281 a0001c0002t0002g0286 a0001c0002t0002g0306 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0007g0035 a0001c0002t0007g0174 a0001c0002t0007g0199 a0001c0002t0007g0207 a0001c0002t0007g0239 a0001c0002t0007g0301 a0001c0002t0007g0304 a0001c0002t0007g0330 a0001c0002t0007g0333 a0001c0002t0013g0159 a0001c0002t0013g0237 a0001c0002t0013g0332 a0001c0003t0001g0001 a0001c0003t0002g0053 a0001c0003t0002g0168 a0001c0003t0003g0059 a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0051 a0001c0003t0005g0068 a0001c0003t0005g0170 a0001c0003t0020g0123 a0001c0003t0021g0126 a0001c0004t0002g0063 a0001c0004t0002g0066 a0001c0004t0002g0238 a0001c0004t0005g0057 a0001c0004t0005g0058 a0001c0004t0005g0061 a0001c0004t0005g0062 a0001c0004t0005g0064 a0001c0004t0005g0065 a0001c0004t0005g0078 a0001c0004t0005g0082 a0001c0004t0005g0121 a0001c0004t0005g0161 a0001c0004t0005g0175 a0001c0004t0005g0195 a0001c0004t0005g0196 a0001c0004t0005g0197 a0001c0006t0002g0050 a0001c0006t0002g0148 a0001c0006t0002g0169 a0001c0006t0008g0128 a0001c0006t0008g0129 a0001c0006t0008g0343 a0001c0007t0004g0084 a0001c0007t0004g0086 a0001c0007t0015g0097 a0001c0009t0003g0012 a0001c0009t0003g0014 a0001c0009t0003g0039 a0001c0010t0002g0158 a0001c0011t0005g0101 a0001c0013t0002g0052 a0001c0013t0023g0096 a0001c0014t0002g0054 a0001c0015t0016g0114 a0001c0015t0016g0116 a0001c0016t0003g0109 a0001c0021t0001g0254 a0001c0024t0003g0015 a0001c0025t0006g0122 a0001c0027t0001g0315 a0001c0028t0026g0107 a0001c0030t0002g0267 a0001c0031t0005g0055 a0003c0026t0005g0077 a0003c0032t0017g0095 a0004c0012t0008g0093 a0004c0012t0008g0099 a0005c0017t0024g0100 a0006c0023t0001g0339 a0007c0022t0001g0201 a0008c0033t0003g0167	271	342	0.7924	-14	c.183 others(33): Show c.1839+1094_1839+1107delTTTCACTATGTTGG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN3_chr11_66541903_66568334	66552870	TCTCTCTC others(7): Show TCTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(61): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02818.hp2 HG02965.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18978.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19087.hp1 NA19090.hp2 NA21309.hp1	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0017	a0002c0002 a0003c0003 a0003c0004 others(3): Show a0002c0002 a0003c0003 a0003c0004 a0003c0007 a0011c0023 a0017c0020	a0002c0002t0001 a0003c0003t0002 a0003c0004t0001 others(3): Show a0002c0002t0001 a0003c0003t0002 a0003c0004t0001 a0003c0007t0001 a0011c0023t0002 a0017c0020t0001	a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0057 others(19): Show a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0057 a0003c0003t0002g0002 a0003c0003t0002g0015 a0003c0003t0002g0029 a0003c0003t0002g0049 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0164 a0003c0003t0002g0168 a0003c0004t0001g0006 a0003c0004t0001g0016 a0003c0004t0001g0056 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0007t0001g0172 a0011c0023t0002g0029 a0017c0020t0001g0006	64	396	0.1616	-14	c.383 others(31): Show c.383-1173_383-1160delTCTCTCTCTCACAC	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66552872	TCTCTCTC others(7): Show TCTCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0167 a0003c0003t0002g0167	1	393	0.0025	-14	c.383 others(31): Show c.383-1171_383-1158delTCTCTCTCACACAC	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar

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