Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AGL_chr1_99845361_99929020	99857798	C C	CGTGGGGA others(23): Show CGTGGGGAGGAGGAGGGGGGAGAGGGAGACG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	318	0.0031	30	c.83- others(45): Show c.83-3696_83-3695insAGGAGGGGGGAGAGGGAGACGGTGGGGAGG	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGL_chr1_99845361_99929020	99857799	G G	GTGGGGAG others(23): Show GTGGGGAGGGGGAGGGGGGAGAGGGAGACCA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	318	0.0031	30	c.83- others(45): Show c.83-3675_83-3674insATGGGGAGGGGGAGGGGGGAGAGGGAGACC	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGL_chr1_99845361_99929020	99857842	G G	GGGGGGGA others(23): Show GGGGGGGAGAGGGAGACCGTGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0191 a0003c0006t0008g0191	1	318	0.0031	30	c.83- others(45): Show c.83-3657_83-3656insGGAGAGGGAGACCGTGGGGAGGGGGAGGGG	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGMO_chr7_15195317_15567015	15354381	C C	CACACGCG others(23): Show CACACGCGTGTATACAGACGCGTGTATATAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0145 a0001c0001t0005g0145	1	236	0.0042	30	c.126 others(51): Show c.1263+11132_1263+11133insCTATATACACGCGTCTGTATACAC GCGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15365380	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0002 a0001c0005t0004g0002	1	236	0.0042	30	c.126 others(47): Show c.1263+133_1263+134insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15402653	T T	TTATTAAA others(23): Show TTATTAAATATATACAAATATATTTAATAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02630.hp2 HG02723.hp1 others(2): Show HG01255.hp1 HG02630.hp2 HG02723.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0064 a0001c0001t0001g0203 a0001c0001t0001g0205 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0005t0004g0002	5	236	0.0212	30	c.610 others(47): Show c.610-8504_610-8475dupTTTATTAAATATATTTGTATATATTTAA TA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15407232	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	236	0.0042	30	c.609 others(49): Show c.609+11325_609+11326insATATATATATATATATATATATATAT ATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15459599	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02080.hp2 HG02717.hp1 others(2): Show HG00735.hp1 HG02080.hp2 HG02717.hp1 HG03017.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0077 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0003g0220 a0002c0002t0001g0060	5	236	0.0212	30	c.410 others(49): Show c.410-28492_410-28491insCACACACACACACACACACACACACA CACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15480962	T T	TAATTAAT others(23): Show TAATTAATGTATAAACATTATGTTTATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02451.hp1 others(8): Show HG01255.hp1 HG02055.hp2 HG02451.hp1 HG02630.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 NA19030.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0015	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0006 a0006c0012 a0015c0020	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0002t0004 a0003c0006t0001 a0006c0012t0003 a0015c0020t0002	a0001c0001t0001g0082 a0001c0001t0001g0203 a0001c0001t0001g0205 others(8): Show a0001c0001t0001g0082 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0005t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0004g0024 a0003c0006t0001g0207 a0006c0012t0003g0223 a0015c0020t0002g0202	11	236	0.0466	30	c.410 others(49): Show c.410-49884_410-49855dupGTGTATAAACATAATGTTTATACATT AATT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO2_chr8_140515156_140640633	140622276	T T	TGGGGGAA others(23): Show TGGGGGAATAATGCACATGGGGTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18960.hp2 HG03710.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0042 a0001c0001t0015 a0001c0001t0042	a0001c0001t0015g0078 a0001c0001t0042g0053 a0001c0001t0015g0078 a0001c0001t0042g0053	2	338	0.0059	30	c.22+ others(47): Show c.22+13208_22+13209insGAGAGGAGACCCCATGTGCATTATTCCC CC	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140622306	T T	TGGGGGAA others(23): Show TGGGGGAATAATGCACATGGGGTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0092 a0001c0011t0092	a0001c0011t0092g0208 a0001c0011t0092g0208	1	338	0.0030	30	c.22+ others(47): Show c.22+13149_22+13178dupGAGAGGAGACCCCATGTGCATTATTCCC CC	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140622618	C C	CCACATGG others(23): Show CCACATGGGGTCTCCTCTCGGGGGAATAATG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0085 a0001c0001t0088g0085	1	338	0.0030	30	c.22+ others(47): Show c.22+12866_22+12867insCATTATTCCCCCGAGAGGAGACCCCATG TG	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623036	A A	ATGCACAT others(23): Show ATGCACATGGGGTCTCCTCTCGGGGGAATAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0152 a0001c0003t0011g0170 a0001c0003t0011g0152 a0001c0003t0011g0170	2	338	0.0059	30	c.22+ others(47): Show c.22+12448_22+12449insCTATTCCCCCGAGAGGAGACCCCATGTG CA	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623096	A A	ATGCACAT others(23): Show ATGCACATGGGGTCTCCTCTCGGGGGAATAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0337 a0001c0003t0008g0337	1	338	0.0030	30	c.22+ others(47): Show c.22+12388_22+12389insCTATTCCCCCGAGAGGAGACCCCATGTG CA	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623156	A A	GTGCACAT others(23): Show GTGCACATGGGGTCTCCTCTTGGGGGAATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02896.hp2 others(1): Show HG01891.hp1 HG02615.hp1 HG02896.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0098 a0001c0002t0099 a0001c0003t0012 others(1): Show a0001c0002t0098 a0001c0002t0099 a0001c0003t0012 a0001c0005t0007	a0001c0002t0098g0180 a0001c0002t0099g0179 a0001c0003t0012g0014 others(1): Show a0001c0002t0098g0180 a0001c0002t0099g0179 a0001c0003t0012g0014 a0001c0005t0007g0015	4	338	0.0118	30	c.22+ others(47): Show c.22+12329_22+12330insTATTCCCCCAAGAGGAGACCCCATGTGC AC	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623158	C C	CCACATGG others(23): Show CCACATGGGGTCTCCTCTTGGGGGAATAATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0168 a0001c0003t0068g0168	1	338	0.0030	30	c.22+ others(47): Show c.22+12297_22+12326dupCATTATTCCCCCAAGAGGAGACCCCATG TG	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623218	C C	CCACATGG others(23): Show CCACATGGGGTCTCCTCTTGGGGGAATAATG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA21309.hp2 HG02027.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0008 a0001c0005t0100 a0001c0003t0008 a0001c0005t0100	a0001c0003t0008g0337 a0001c0005t0100g0167 a0001c0003t0008g0337 a0001c0005t0100g0167	2	338	0.0059	30	c.22+ others(47): Show c.22+12237_22+12266dupCATTATTCCCCCAAGAGGAGACCCCATG TG	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGPAT4_chr6_161124967_161279061	161219824	G G	GAGATAGA others(23): Show GAGATAGATAGATATAGATAGATAGATAGGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0212 a0001c0001t0015g0212	1	264	0.0038	30	c.178 others(49): Show c.178+12211_178+12212insACCTATCTATCTATCTATATCTATCT ATCT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161265105	G G	GTGGATTA others(23): Show GTGGATTAGTACCCACTGCTGGACTGGGTGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18949.hp2 NA19010.hp1 HG01928.hp1 NA18949.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 a0001c0001t0001 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0189 a0001c0001t0007g0188 a0001c0002t0004g0187 a0001c0001t0001g0189 a0001c0001t0007g0188 a0001c0002t0004g0187	3	264	0.0114	30	c.-90 others(47): Show c.-90+8803_-90+8832dupGCACCCAGTCCAGCAGTGGGTACTAATC CA	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161265343	T T	TGATTAGT others(23): Show TGATTAGTACCCACCGCTGGACTGGGTGCTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18949.hp2 NA19010.hp1 HG01928.hp1 NA18949.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 a0001c0001t0001 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0189 a0001c0001t0007g0188 a0001c0002t0004g0187 a0001c0001t0001g0189 a0001c0001t0007g0188 a0001c0002t0004g0187	3	264	0.0114	30	c.-90 others(47): Show c.-90+8565_-90+8594dupCAGCACCCAGTCCAGCGGTGGGTACTAA TC	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGPS_chr2_177387773_177548834	177396942	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0245 a0001c0001t0011g0245	1	258	0.0039	30	c.260 others(47): Show c.260+3907_260+3908insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177450963	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0006 a0001c0002t0004g0006	1	258	0.0039	30	c.870 others(47): Show c.870+5349_870+5350insATATATATATATATATATATATATATAT AT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGR2_chr7_16786811_16809999	16804398	A A	ATGCTTCA others(23): Show ATGCTTCAGGAAAGCAACCAGCTCTCTCCTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	460	0.0022	30	c.-8+ others(43): Show c.-8+507_-8+536dupGAGGAGAGAGCTGGTTGCTTTCCTGAAGCA	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16880465	T T	TTCCTTTC others(23): Show TTCCTTTCCCCTCCTTTCCCCTCCTTTCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp1 HG00639.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0213 a0001c0001t0004g0251 a0001c0001t0001g0213 a0001c0001t0004g0251	2	458	0.0044	30	c.-28 others(47): Show c.-28+1478_-28+1479insGGGGAAAGGAGGGGAAAGGAGGGGAAAG GA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16880470	C C	CTCCCCTC others(23): Show CTCCCCTCCTTTCCCCTCCTTTCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA19082.hp1 HG01993.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0002g0247 a0001c0001t0001g0155 a0001c0001t0002g0247	2	458	0.0044	30	c.-28 others(47): Show c.-28+1444_-28+1473dupAAGGAGGGGAAAGGAGGGGAAAGGAGGG GA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16880474	C C	CCTCCTTT others(23): Show CCTCCTTTCCCCTCCTTTCCCCTCCTTTCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02895.hp2 others(4): Show HG02257.hp2 HG02280.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0146 a0001c0001t0001g0207 a0001c0001t0002g0145	7	458	0.0153	30	c.-28 others(47): Show c.-28+1469_-28+1470insTGGAAAGGAGGGGAAAGGAGGGGAAAGG AG	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16880527	C C	CTCCCCTC others(23): Show CTCCCCTCCCCTCCCCTCCTCTCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	458	0.0022	30	c.-28 others(47): Show c.-28+1387_-28+1416dupAAGGAGGGGAGAGGAGGGGAGGGGAGGG GA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGTR1_chr3_148692903_148748003	148745773	A A	ATATTTTA others(23): Show ATATTTTATTTTATTTTATTTTATTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02132.hp2 others(17): Show HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp1 NA18990.hp1 NA19063.hp2 NA19066.hp1 NA19081.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004	a0001c0001t0005g0116 a0001c0002t0001g0002 a0001c0002t0001g0013 others(15): Show a0001c0001t0005g0116 a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0151 a0001c0002t0001g0176 a0001c0002t0001g0214 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0004g0029 a0001c0003t0004g0040 a0001c0003t0004g0067 a0001c0003t0004g0077 a0001c0003t0004g0125 a0001c0003t0004g0127 a0001c0003t0004g0128 a0001c0003t0004g0129 a0001c0003t0004g0132 a0001c0003t0004g0236	20	350	0.0571	30	c.36 others(41): Show c.3658_*3659insTATTTTATTTTATTTTATTTTATTTTATTT	AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding		2771		chr3	TogoVar
AGT_chr1_230697523_230719122	230718722	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	456	0.0022	30	c.-46 others(41): Show c.-4668_-4667insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding		4601		chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03669.hp1 HG01891.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0282 a0001c0001t0002g0070 a0001c0001t0002g0282	2	292	0.0069	30	c.364 others(49): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHI1_chr6_135278532_135502740	135344926	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0072 a0004c0007t0011g0072	1	220	0.0046	30	c.316 others(51): Show c.3165+13176_3165+13205dupTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 NA19030.hp2 HG03195.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0183 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0183 a0001c0001t0005g0187 a0001c0001t0005g0188	3	220	0.0136	30	c.135 others(47): Show c.135+7728_135+7729insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0173 a0001c0001t0063g0173	1	268	0.0037	30	c.-10 others(47): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT TT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0014 a0004c0003t0014	a0004c0003t0014g0244 a0004c0003t0014g0244	1	268	0.0037	30	c.-10 others(47): Show c.-10-3204_-10-3203insATATATATATATATATATTTTTTTTTTT TT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	443220	G G	GGGCGGAG others(23): Show GGGCGGAGGGGGCGGAGGGGGCGGCGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02004.hp2 HG00280.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0012 a0001c0001t0029g0013 a0001c0001t0029g0012 a0001c0001t0029g0013	2	268	0.0075	30	c.83 others(41): Show c.8386_*8387insGGCGGAGGGGGCGGAGGGGGCGGCGGGGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		4936		chr5	TogoVar
AIG1_chr6_143055889_143346058	143143528	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	204	0.0049	30	c.297 others(47): Show c.297+6539_297+6540insAAAATATATATATATATATATATATATA TA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	442	0.0023	30	c.135 others(45): Show c.135+477_135+478insAAAAAAAAAAAATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	442	0.0023	30	c.135 others(45): Show c.135+477_135+478insAAAAAAAAAATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20129.hp2 HG02886.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0101 a0001c0002t0001g0102	2	442	0.0045	30	c.135 others(45): Show c.135+477_135+478insAAAAAAAATATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA20752.hp1 HG02895.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0131 a0001c0002t0001g0130 a0001c0001t0001g0131 a0001c0002t0001g0130	2	442	0.0045	30	c.135 others(45): Show c.135+477_135+478insAAAAAATATATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	442	0.0023	30	c.135 others(45): Show c.135+477_135+478insAAAATATATATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAATATA others(23): Show AAAATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	442	0.0023	30	c.135 others(45): Show c.135+477_135+478insAATATACATATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIPL1_chr17_6418738_6440121	6433586	A A	ATCTCTCT others(23): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02015.hp1 HG02040.hp2 others(3): Show HG00544.hp1 HG02015.hp1 HG02040.hp2 HG02523.hp1 NA18946.hp2 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0007 a0001c0004t0005 a0001c0002t0007 a0001c0004t0005	a0001c0002t0007g0349 a0001c0004t0005g0235 a0001c0004t0005g0236 others(3): Show a0001c0002t0007g0349 a0001c0004t0005g0235 a0001c0004t0005g0236 a0001c0004t0005g0237 a0001c0004t0005g0238 a0001c0004t0005g0248	6	454	0.0132	30	c.276 others(45): Show c.276+332_276+333insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/5			chr17	TogoVar
AIP_chr11_67478026_67496103	67494793	T T	TGAGTGGG others(23): Show TGAGTGGGCGAGAGTGGGCGAGAGTGGGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	342	0.0029	30	c.38 others(41): Show c.3800_*3801insGAGTGGGCGAGAGTGGGCGAGAGTGGGCGA	AIP	ENSG00000110711.11	transcript	ENST00000279146.8	protein_coding		3691		chr11	TogoVar
AK4_chr1_65143203_65237145	65172063	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0021 a0001c0001t0018g0021	1	300	0.0033	30	c.146 others(49): Show c.146-18635_146-18606dupATATATATATATATATATATATATAT ATAT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77357992	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0105 a0002c0002t0010g0105	1	284	0.0035	30	c.891 others(49): Show c.891+17451_891+17452insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77358018	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	284	0.0035	30	c.891 others(49): Show c.891+17451_891+17452insTGTGTGTGTGTGTGTGTGTGTGTGTG TGAG	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(23): Show ATATATATATATATATATATATTATATATGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02602.hp1 HG01106.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0024 a0001c0001t0006g0227 a0001c0001t0004g0024 a0001c0001t0006g0227	2	284	0.0070	30	c.891 others(49): Show c.891+27011_891+27012insTATATATATATTATATATGTTATATA TATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391495	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	284	0.0035	30	c.892 others(49): Show c.892-19485_892-19484insGTGTGTATATATATATATATATATAT ATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01071.hp2 others(20): Show HG00733.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01346.hp1 HG02004.hp2 HG02015.hp2 HG02615.hp2 HG03041.hp2 HG03130.hp1 HG03491.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18951.hp1 NA19030.hp1 NA19043.hp2 NA19070.hp1 NA19240.hp1 NA20805.hp2	a0001 a0011 a0013 a0001 a0011 a0013	a0001c0001 a0001c0006 a0011c0019 others(1): Show a0001c0001 a0001c0006 a0011c0019 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0006t0004 a0011c0019t0001 a0013c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0055 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0097 a0001c0001t0001g0182 a0001c0001t0001g0236 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0002g0075 a0001c0001t0002g0093 a0001c0001t0002g0159 a0001c0001t0002g0280 a0001c0001t0002g0303 a0001c0001t0004g0198 a0001c0001t0008g0279 a0001c0006t0004g0010 a0011c0019t0001g0262 a0013c0017t0001g0316	23	316	0.0728	30	c.499 others(47): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar

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