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
TSR1_chr17_2317396_2341457	2338774	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA18957.hp1 NA18962.hp2 others(2): Show HG02129.hp1 NA18957.hp1 NA18962.hp2 NA18982.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0187 a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0187	5	408	0.0123	50	c.-23 others(61): Show c.-2348_-2347insATATATATATATATATATATATATATATATATAT ATATATATATATATAT	TSR1	ENSG00000167721.11	transcript	ENST00000301364.10	protein_coding		2318		chr17	TogoVar
TTC28_chr22_27973014_28684840	28537296	A A	AATAACAT others(43): Show AATAACATAACATAACATAACATAACATAACATAACATAACATAACATAA C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	196	0.0051	50	c.381 others(69): Show c.381+92255_381+92256insGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTAT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC28_chr22_27973014_28684840	28670704	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0151 a0001c0003t0002g0151	1	196	0.0051	50	c.102 others(67): Show c.102+8917_102+8918insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	1/22			chr22	TogoVar
TTC39C_chr18_24009754_24140600	24023963	T T	TATATATA others(43): Show TATATATATATACGTATATATATATATATACACACATATATATATATATA C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02970.hp2 HG02145.hp1 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0069 a0001c0001t0003 a0001c0001t0029 a0001c0001t0069	a0001c0001t0003g0142 a0001c0001t0029g0137 a0001c0001t0069g0028 a0001c0001t0003g0142 a0001c0001t0029g0137 a0001c0001t0069g0028	3	328	0.0092	50	c.167 others(67): Show c.167+8936_167+8937insCGTATATATATATATATACACACATATA TATATATATACATATATATATA	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC5_chr14_20281227_20310951	20310304	A A	AGTCAGCC others(43): Show AGTCAGCCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0219 a0001c0002t0014g0219	1	416	0.0024	50	c.-43 others(61): Show c.-4368_-4367insCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCC GGGCGGGGGGGCTGAC	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4354		chr14	TogoVar
TTC5_chr14_20281227_20310951	20310650	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0219 a0001c0002t0014g0219	1	416	0.0024	50	c.-47 others(61): Show c.-4714_-4713insCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCC	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4700		chr14	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	AAAAAAAA others(43): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0238 a0001c0010t0001g0238	1	396	0.0025	50	c.-41 others(67): Show c.-41-6467_-41-6466insATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTT	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTLL5_chr14_75656246_75960079	75914033	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0123 a0002c0003t0001g0123	1	198	0.0051	50	c.382 others(71): Show c.3823+11810_3823+11811insAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATATA	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL6_chr17_48757234_48822229	48810823	G G	GTATATAT others(43): Show GTATATATATATAGTACATATATACACATATATAGTATGTGTGTGTATAT A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01515.hp2 others(17): Show HG00544.hp1 HG00558.hp2 HG01515.hp2 HG02257.hp2 HG03654.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18964.hp1 NA18980.hp2 NA18986.hp2 NA18997.hp2 NA18999.hp1 NA19006.hp1 NA19011.hp1 NA19066.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0020 a0001c0022 others(1): Show a0001c0001 a0001c0020 a0001c0022 a0003c0003	a0001c0001t0001 a0001c0020t0001 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0020t0001 a0001c0022t0001 a0003c0003t0002	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(17): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0020t0001g0192 a0001c0022t0001g0162 a0003c0003t0002g0161	20	330	0.0606	50	c.104 others(67): Show c.104-5833_104-5832insTATATACACACACATACTATATATGTGT ATATATGTACTATATATATATA	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	1/15			chr17	TogoVar
TTLL9_chr20_31865634_31950000	31887855	C C	CCTCTTCT others(43): Show CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	264	0.0038	50	c.113 others(65): Show c.113+617_113+666dupCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCTT	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL9_chr20_31865634_31950000	31890201	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	264	0.0038	50	c.113 others(67): Show c.113+2963_113+2964insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	TTLL9	ENSG00000131044.19	transcript	ENST00000535842.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
TULP4_chr6_158307465_158516828	158308928	G G	GGGGGGGC others(43): Show GGGGGGGCTGACCCACCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0095 a0001c0002t0095	a0001c0002t0095g0191 a0001c0002t0095g0191	1	268	0.0037	50	c.-50 others(61): Show c.-5089_-5088insGGGGGGCTGACCCACCCACCTCCCTCCCGGACAG GGCGGCTGGCCGGGCA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding		3536		chr6	TogoVar
TULP4_chr6_158307465_158516828	158308986	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGGGGGCTGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0203 a0001c0004t0021g0203	1	268	0.0037	50	c.-50 others(61): Show c.-5031_-5030insCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCAGGGGGCTGAC	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding		3478		chr6	TogoVar
TULP4_chr6_158307465_158516828	158331720	C C	CGTATATA others(43): Show CGTATATATACGTGTATATATACACGTATATATATATATATACGTGTATA T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01496.hp1 HG02080.hp2 others(16): Show HG00597.hp1 HG01496.hp1 HG02080.hp2 HG02083.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03688.hp1 NA18949.hp2 NA18968.hp1 NA18970.hp1 NA18983.hp1 NA19012.hp1 NA19070.hp2 NA19074.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0040	a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 others(8): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0009t0007 a0001c0011t0057 a0001c0011t0058 a0001c0011t0069 a0001c0040t0060	a0001c0001t0007g0050 a0001c0001t0014g0114 a0001c0001t0025g0003 others(16): Show a0001c0001t0007g0050 a0001c0001t0014g0114 a0001c0001t0025g0003 a0001c0001t0025g0004 a0001c0001t0026g0016 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0003g0049 a0001c0009t0007g0029 a0001c0011t0057g0145 a0001c0011t0058g0146 a0001c0011t0069g0149 a0001c0040t0060g0035	19	268	0.0709	50	c.252 others(69): Show c.252+17452_252+17453insGTATATATACGTGTATATATACACGT ATATATATATATATACGTGTATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TXLNG_chrX_16781466_16849519	16830830	C C	CGTGTGTG others(43): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18966.hp1 NA18968.hp1 HG02129.hp1 NA18966.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0218 a0001c0001t0004g0093 a0001c0001t0004g0219 a0001c0001t0001g0218 a0001c0001t0004g0093 a0001c0001t0004g0219	3	264	0.0114	50	c.864 others(67): Show c.864+1067_864+1116dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	TXLNG	ENSG00000086712.13	transcript	ENST00000380122.10	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TXNDC16_chr14_52425596_52557505	52529551	A A	ATATATAT others(43): Show ATATATATAATGCCTATTATATATATTATATATAATGCCTATTATATATA T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02895.hp2 HG01496.hp1 HG02895.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0192 a0005c0006t0006g0195 a0005c0006t0006g0192 a0005c0006t0006g0195	2	238	0.0084	50	c.392 others(67): Show c.392+7167_392+7168insATATATATAATAGGCATTATATATAATA TATATAATAGGCATTATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52529576	A A	ATATATAT others(43): Show ATATATATAATGCCTATTATATATAATATATATAATGCCTATTATATATA T	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	238	0.0042	50	c.392 others(67): Show c.392+7142_392+7143insATATATATAATAGGCATTATATATATTA TATATAATAGGCATTATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52529576	A A	ATATATAT others(43): Show ATATATATAATGCCTATTATATATATTATATATAATGCCTATTATATATA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp1 HG00099.hp1 HG01346.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0016 a0007c0010t0001 a0001c0002t0016 a0007c0010t0001	a0001c0002t0016g0079 a0007c0010t0001g0105 a0001c0002t0016g0079 a0007c0010t0001g0105	2	238	0.0084	50	c.392 others(67): Show c.392+7093_392+7142dupATATATATAATAGGCATTATATATAATA TATATAATAGGCATTATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52529626	T T	TTATATAT others(43): Show TTATATATAATGCCTATTATATATATTATATATAATGCCTATTATATATA A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01346.hp2 HG02451.hp2 others(6): Show HG01074.hp1 HG01346.hp2 HG02451.hp2 HG02486.hp2 HG02922.hp2 HG03139.hp1 HG03540.hp2 HG06807.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0136 a0003c0004t0004g0139 a0003c0004t0004g0140 others(6): Show a0003c0004t0004g0136 a0003c0004t0004g0139 a0003c0004t0004g0140 a0003c0004t0004g0141 a0003c0004t0004g0142 a0003c0004t0004g0143 a0003c0004t0004g0144 a0003c0004t0004g0145 a0003c0004t0004g0146	9	238	0.0378	50	c.392 others(67): Show c.392+7043_392+7092dupTTATATATAATAGGCATTATATATAATA TATATAATAGGCATTATATATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC9_chr2_99313982_99341333	99338929	T T	TATATATA others(43): Show TATATATACAAATATATATACACACATATATATAAATATATATATATACA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	370	0.0027	50	c.-27 others(61): Show c.-2724_-2723insTTGTATATATATATATTTATATATATGTGTGTAT ATATATTTGTATATAT	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding		2597		chr2	TogoVar
TYW1B_chr7_72569513_72833200	72632399	T T	TAATATAT others(43): Show TAATATATATATACGTATATATATATAATATATATATACATATATATATA A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01981.hp2 HG01257.hp1 HG01981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0098 a0003c0004t0001g0109 a0003c0004t0001g0098 a0003c0004t0001g0109	2	286	0.0070	50	c.150 others(69): Show c.1507-3403_1507-3402insTTATATATATATGTATATATATATTA TATATATATACGTATATATATATT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72632438	G G	GTATATAT others(43): Show GTATATATATAAAATATATATATACGTATATATATAAAATATATATATAC A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0101 a0003c0004t0001g0101	1	286	0.0035	50	c.150 others(69): Show c.1507-3442_1507-3441insTGTATATATATATTTTATATATATAC GTATATATATATTTTATATATATA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	11/13			chr7	TogoVar
TYW1_chr7_66991833_67244514	67029401	G G	GTATATAT others(43): Show GTATATATACATATATATATATACATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	364	0.0028	50	c.984 others(67): Show c.984+4380_984+4381insATATATACATATATATATATACATATAT ATATATATATATATATATATAT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029407	G G	GTGTGTAT others(43): Show GTGTGTATATATATACATATATATATATATACACATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	364	0.0028	50	c.984 others(67): Show c.984+4390_984+4391insATATATATACATATATATATATATACAC ATATATATATATATATATGTGT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029409	G G	GTATATAT others(43): Show GTATATATATACACATATATATATATACATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0347 a0001c0002t0003g0347	1	364	0.0028	50	c.984 others(67): Show c.984+4388_984+4389insATATATATACACATATATATATATACAT ATATATATATATATATATATAT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029409	G G	GTATATAT others(43): Show GTATATATATACATATATATATATACATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0198 a0003c0005t0002g0198	1	364	0.0028	50	c.984 others(67): Show c.984+4388_984+4389insATATATATACATATATATATATACATAT ATATATATATATATATATATAT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029409	G G	GTATATAT others(43): Show GTATATATATACATATATATATATATACATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02055.hp2 HG02896.hp1 others(7): Show HG01993.hp2 HG02055.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0003 a0003c0005 others(1): Show a0001c0001 a0002c0003 a0003c0005 a0005c0016	a0001c0001t0001 a0002c0003t0002 a0003c0005t0002 others(1): Show a0001c0001t0001 a0002c0003t0002 a0003c0005t0002 a0005c0016t0005	a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0134 others(7): Show a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0135 a0002c0003t0002g0136 a0002c0003t0002g0137 a0003c0005t0002g0195 a0003c0005t0002g0197 a0003c0005t0002g0201 a0005c0016t0005g0143	10	364	0.0275	50	c.984 others(67): Show c.984+4388_984+4389insATATATATACATATATATATATATACAT ATATATATATATATATATATAT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67029409	G G	GTGTATAT others(43): Show GTGTATATATATACATATATATATATATACACATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	364	0.0028	50	c.984 others(67): Show c.984+4390_984+4391insATATATATACATATATATATATATACAC ATATATATATATATATATATGT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
U2SURP_chr3_142996570_143065725	143060575	A A	ATTGTTTT others(43): Show ATTGTTTTTCCGATGCAAGCCCAGTTAATAATTAGTTTTTTAGCAGCTTT C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0074 a0001c0001t0025g0074	1	378	0.0027	50	c.41 others(61): Show c.4127_*4176dupTGTTTTTCCGATGCAAGCCCAGTTAATAATTAGT TTTTTAGCAGCTTTCT	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	28/28	4177	INFO_REALIGN_3_PRIME	chr3	TogoVar
UACA_chr15_70649554_70768558	70712051	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0026 a0001c0003t0002g0026	1	310	0.0032	50	c.79- others(67): Show c.79-12392_79-12391insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CCTGTGTG others(43): Show CCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02622.hp1 NA20905.hp1 HG01074.hp1 HG02622.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0011 a0003c0003t0001 a0001c0001t0001 a0001c0001t0011 a0003c0003t0001	a0001c0001t0001g0018 a0001c0001t0011g0079 a0003c0003t0001g0017 a0001c0001t0001g0018 a0001c0001t0011g0079 a0003c0003t0001g0017	3	342	0.0088	50	c.-7- others(67): Show c.-7-18284_-7-18283insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0186 a0001c0007t0001g0186	1	356	0.0028	50	c.-42 others(69): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA20805.hp1 NA18989.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0181 a0001c0002t0001g0044 a0001c0002t0001g0181	2	356	0.0056	50	c.-42 others(69): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(43): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01361.hp2 NA18952.hp1 HG00323.hp1 HG01361.hp2 NA18952.hp1	a0001 a0014 a0001 a0014	a0001c0002 a0014c0017 a0001c0002 a0014c0017	a0001c0002t0001 a0001c0002t0002 a0014c0017t0001 a0001c0002t0001 a0001c0002t0002 a0014c0017t0001	a0001c0002t0001g0211 a0001c0002t0002g0161 a0014c0017t0001g0333 a0001c0002t0001g0211 a0001c0002t0002g0161 a0014c0017t0001g0333	3	356	0.0084	50	c.-42 others(69): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAAAAAA others(43): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	356	0.0028	50	c.-42 others(69): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATATATTTTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34035514	A A	AAAATATA others(43): Show AAAATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0283 a0001c0003t0001g0283	1	356	0.0028	50	c.-42 others(69): Show c.-42+13310_-42+13311insATATATATATATATATATATATATAT ATATATATATATATATATATATTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28			chr9	TogoVar
UBC_chr12_124906646_124919650	124907730	A A	AATATATA others(43): Show AATATATATATGAATATATGAATATATATATGAATACATATATATGAATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 NA19007.hp1 HG04199.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	446	0.0045	50	c.39 others(61): Show c.3983_*3984insATATTCATATATATGTATTCATATATATATTCAT ATATTCATATATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3915		chr12	TogoVar
UBC_chr12_124906646_124919650	124907744	T T	TATATGAA others(43): Show TATATGAATATATGAATATATATATGAATATATATATATATGAATATATG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	446	0.0045	50	c.39 others(61): Show c.3969_*3970insTCATATATTCATATATATATATATTCATATATAT ATTCATATATTCATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3901		chr12	TogoVar
UBC_chr12_124906646_124919650	124907752	A A	AATATATA others(43): Show AATATATATATGAATACATATATATGAATATATATATGAATATATGAATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	446	0.0022	50	c.39 others(61): Show c.3961_*3962insATATTCATATATTCATATATATATTCATATATAT GTATTCATATATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3893		chr12	TogoVar
UBC_chr12_124906646_124919650	124907752	A A	AATATATG others(43): Show AATATATGAATATATATATGAATATATATATATATGAATATATGAATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(74): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02109.hp2 HG02148.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18972.hp2 NA18973.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp2 NA19072.hp2 NA19075.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(6): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0035 a0001c0036 a0002c0011	a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 a0001c0006t0001 a0001c0008t0001 a0001c0010t0001 a0001c0035t0001 a0001c0036t0001 a0002c0011t0001	a0001c0002t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0052 others(7): Show a0001c0002t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0052 a0001c0005t0002g0005 a0001c0006t0001g0006 a0001c0008t0001g0054 a0001c0010t0001g0014 a0001c0035t0001g0059 a0001c0036t0001g0060 a0002c0011t0001g0016	77	446	0.1727	50	c.39 others(61): Show c.3961_*3962insATATATTCATATATTCATATATATATATATTCAT ATATATATTCATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3893		chr12	TogoVar
UBC_chr12_124906646_124919650	124907752	A A	AATATATG others(43): Show AATATATGAATATATATATGAATATATATATATGAATATATGAATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01516.hp1 HG01517.hp2 others(4): Show HG01168.hp1 HG01516.hp1 HG01517.hp2 HG03942.hp1 HG04199.hp2 NA19003.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0001 a0001c0002t0002g0034 a0001c0002t0001g0001 a0001c0002t0002g0034	7	446	0.0157	50	c.39 others(61): Show c.3961_*3962insATATATATTCATATATTCATATATATATATTCAT ATATATATTCATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3893		chr12	TogoVar
UBE2E1_chr3_23800955_23896640	23871284	T T	TGGGCGGC others(43): Show TGGGCGGCTGGCCGGGCGGGGGGTGACCCCCCCCCACCTCCCTCCCGGAC A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG04184.hp2 others(1): Show HG02976.hp1 HG03098.hp1 HG04184.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0003t0003g0016 others(1): Show a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0003t0003g0016 a0001c0003t0003g0027	4	370	0.0108	50	c.204 others(69): Show c.204-16267_204-16266insGGGGGGTGACCCCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGC	UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2E1_chr3_23800955_23896640	23871284	T T	TGGGTGGC others(43): Show TGGGTGGCTGGCCGGGCGGGGGGTGACCCCCCCCCACCTCCCTCCCGGAC A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02273.hp1 HG02293.hp2 others(2): Show HG01928.hp1 HG02273.hp1 HG02293.hp2 HG02738.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0148 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0267	5	370	0.0135	50	c.204 others(69): Show c.204-16280_204-16279insTGGCTGGCCGGGCGGGGGGTGACCCC CCCCCACCTCCCTCCCGGACAGGG	UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2E1_chr3_23800955_23896640	23871284	T T	TGGGTGGC others(43): Show TGGGTGGCTGGCCGGGCGGGGGGTGACCCCCCGCCACCTCCCTCCCGGAC A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02572.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0278 a0001c0001t0001g0259 a0001c0001t0001g0278	2	370	0.0054	50	c.204 others(69): Show c.204-16280_204-16279insTGGCTGGCCGGGCGGGGGGTGACCCC CCGCCACCTCCCTCCCGGACAGGG	UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2R2_chr9_33812160_33925399	33877823	G G	GTCTGTCT others(43): Show GTCTGTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	366	0.0027	50	c.178 others(67): Show c.178-9055_178-9054insGTCTGTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2U_chr1_64198623_64272368	64201411	A A	AGGAGGGA others(43): Show AGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	330	0.0030	50	c.-26 others(61): Show c.-2640_-2639insGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCTGTCCG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2211		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201470	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	330	0.0030	50	c.-25 others(61): Show c.-2581_-2580insGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2152		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239138	G G	GAGGAAGA others(43): Show GAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGA A	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18965.hp1 NA18975.hp1 others(1): Show HG00642.hp2 NA18965.hp1 NA18975.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0179	4	330	0.0121	50	c.596 others(67): Show c.596-2513_596-2512insGGAAGAGGAAGAGGAAGAGGAAGAGGAA GAAGAAGAAGAAGAAGAAGAAA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239141	G G	GAGGAAGA others(43): Show GAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGA A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01496.hp1 others(3): Show HG00735.hp1 HG01106.hp1 HG01496.hp1 HG02135.hp1 HG03710.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0127 a0001c0001t0002g0208 a0001c0001t0002g0250 others(3): Show a0001c0001t0001g0127 a0001c0001t0002g0208 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0263	6	330	0.0182	50	c.596 others(67): Show c.596-2510_596-2509insGGAAGAGGAAGAGGAAGAGGAAGAGGAA GAAGAAGAAGAAGAAGAAGAAA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239144	G G	GAGGAAGA others(43): Show GAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGA A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02451.hp2 NA18999.hp1 HG00544.hp1 HG02451.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0001g0154 a0001c0001t0002g0245 a0001c0001t0001g0086 a0001c0001t0001g0154 a0001c0001t0002g0245	3	330	0.0091	50	c.596 others(67): Show c.596-2507_596-2506insGGAAGAGGAAGAGGAAGAGGAAGAGGAA GAAGAAGAAGAAGAAGAAGAAA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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