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
BCO1_chr16_81233689_81296142	81272931	A A	AGACTGGA others(31): Show AGACTGGAACCTGCCCCAGTCTGTCTCTAAACCCCCATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0103 a0002c0004t0001g0103	1	400	0.0025	38	c.110 others(57): Show c.1101+2516_1101+2553dupGACTGGAACCTGCCCCAGTCTGTCTC TAAACCCCCATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGGGGGTG others(31): Show GGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	181	0.0055	38	c.12 others(49): Show c.1295_*1296insACACACACACACACACACACACACACACACACAC CCCC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGGGTGTG others(31): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	181	0.0055	38	c.12 others(49): Show c.1295_*1296insACACACACACACACACACACACACACACACACAC ACCC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0075	1	172	0.0058	38	c.83+ others(53): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(31): Show TTATTTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG03453.hp2 HG02630.hp1 HG02965.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073	3	180	0.0167	38	c.-43 others(55): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATATA TATAAAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(31): Show TTATTTTTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0061	1	178	0.0056	38	c.-43 others(55): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATATA TAAAAAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BEGAIN_chr14_100532147_100592417	100573172	A A	AGGTGAGT others(31): Show AGGTGAGTCTGGGGGGAGGGGCTTCCGGAGGAGGGGGCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18945.hp2 HG02523.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0263 a0001c0002t0001g0179 a0001c0002t0001g0263	2	322	0.0062	38	c.43- others(53): Show c.43-5271_43-5234dupAGCCCCCTCCTCCGGAAGCCCCTCCCCCCA GACTCACC	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	1/6			chr14	TogoVar
BEST4_chr1_44778585_44793170	44792561	G G	GTGGCTAT others(31): Show GTGGCTATCAGCACATCTCTTATTTCAGGTTGGCTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	38	c.-48 others(49): Show c.-4857_-4856insATAAAGCCAACCTGAAATAAGAGATGTGCTGATA GCCA	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		4392		chr1	TogoVar
BFSP2_chr3_133395056_133480208	133424214	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	269	0.0037	38	c.490 others(57): Show c.490-23102_490-23101insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133424216	T T	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	224	0.0045	38	c.490 others(57): Show c.490-23100_490-23099insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	305	0.0033	38	c.112 others(55): Show c.1123+459_1123+460insTATATATATATATATATATATATATATA TATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02015.hp2 HG02486.hp1 others(2): Show HG00639.hp1 HG02015.hp2 HG02486.hp1 HG02486.hp2 HG04228.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0026 a0001c0001 a0002c0002 a0006c0026	a0001c0001t0001 a0002c0002t0001 a0006c0026t0001 a0001c0001t0001 a0002c0002t0001 a0006c0026t0001	a0001c0001t0001g0191 a0001c0001t0001g0228 a0001c0001t0001g0269 others(2): Show a0001c0001t0001g0191 a0001c0001t0001g0228 a0001c0001t0001g0269 a0002c0002t0001g0014 a0006c0026t0001g0187	5	108	0.0463	38	c.133 others(59): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03239.hp2 HG02004.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0264 a0001c0001t0003g0256 a0001c0001t0003g0264	2	55	0.0364	38	c.103 others(57): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GGAAGGAA others(31): Show GGAAGGAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG06807.hp2 HG02738.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0006 a0001c0001t0008 a0001c0002t0006	a0001c0001t0008g0231 a0001c0002t0006g0221 a0001c0001t0008g0231 a0001c0002t0006g0221	2	108	0.0185	38	c.-2+ others(53): Show c.-2+9776_-2+9777insGAAGGAAGAAAGAAAAGAAAAGAAAAGAAA AGAAAAGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12			chr8	TogoVar
BLOC1S2_chr10_100268293_100291680	100276336	G G	GTCTCCCT others(31): Show GTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01255.hp1 others(1): Show HG01192.hp2 HG01243.hp2 HG01255.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0219 a0002c0002t0007g0193 a0002c0002t0007g0197 others(1): Show a0002c0002t0003g0219 a0002c0002t0007g0193 a0002c0002t0007g0197 a0002c0002t0007g0198	4	370	0.0108	38	c.398 others(53): Show c.398-881_398-844dupGGGAGAGGGAGACGGGAGAGGGAGACGGGA GAGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0301 a0001c0017t0001g0301	1	72	0.0139	38	c.749 others(55): Show c.7493+118_7493+119insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	102	0.0098	38	c.44+ others(53): Show c.44+1862_44+1863insATATATATATATATATATATATATATATAT ATATTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	320	0.0031	38	c.80- others(53): Show c.80-1701_80-1700insATATATATATATATATATATATATATATAT ATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02622.hp1 HG03139.hp1 HG01361.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0074 a0001c0001t0001g0131 a0001c0001t0001g0132	3	73	0.0411	38	c.80- others(53): Show c.80-1703_80-1702insATATATATATATATATATATATATATATAT ATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMAL2_chr12_27327836_27430286	27333625	T T	TTGGTCCC others(31): Show TTGGTCCCGGCATCCGCCCGCCTGGGATCCTGCGGGCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	308	0.0032	38	c.31+ others(51): Show c.31+522_31+523insTGGTCCCGGCATCCGCCCGCCTGGGATCCTGC GGGCCC	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16			chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	15	0.0667	38	c.106 others(55): Show c.106+9387_106+9388insGTTTTTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(31): Show CGTGTGGGGGGGTGTGTGCGTGCGTGTGTGCGTGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01243.hp2 others(31): Show HG00642.hp1 HG01081.hp2 HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0027 a0001c0001t0039 a0001c0001t0045 a0001c0001t0051 a0001c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0115 others(26): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0358 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0379 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0003g0120 a0001c0001t0007g0136 a0001c0001t0007g0355 a0001c0001t0007g0362 a0001c0001t0008g0002 a0001c0001t0008g0356 a0001c0001t0014g0354 a0001c0001t0018g0113 a0001c0001t0021g0353 a0001c0001t0021g0360 a0001c0001t0027g0363 a0001c0001t0039g0352 a0001c0001t0045g0135 a0001c0001t0051g0369 a0001c0004t0001g0367	34	58	0.5862	38	c.-44 others(49): Show c.-4418_-4417insCCCCCCACGCACACACGCACGCACACACCCCCCC ACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMP7_chr20_57163753_57271641	57211501	A A	AGGAAGCT others(31): Show AGGAAGCTGTGGGTATGCCACCTCCCAGGCCCTGATCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	270	0.0037	38	c.612 others(55): Show c.612-8916_612-8879dupGGGATCAGGGCCTGGGAGGTGGCATACC CACAGCTTCC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57211530	C C	CCCTGATC others(31): Show CCCTGATCCCGGAAGCTGTGGGTATGCCACCTCGCAGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	262	0.0038	38	c.612 others(55): Show c.612-8908_612-8907insACCTGCGAGGTGGCATACCCACAGCTTC CGGGATCAGG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57211530	C C	CCCTGATC others(31): Show CCCTGATCCCGGAAGCTGTGGGTATGCCACCTTGCAGGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02818.hp2 others(5): Show HG02615.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03516.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0002c0006t0001	a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0002g0033 others(5): Show a0001c0001t0001g0048 a0001c0001t0001g0102 a0001c0001t0002g0033 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0017g0201 a0002c0006t0001g0076 a0002c0006t0001g0079	8	269	0.0297	38	c.612 others(55): Show c.612-8908_612-8907insACCTGCAAGGTGGCATACCCACAGCTTC CGGGATCAGG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMPER_chr7_33900539_34161427	34129622	G G	GAAAGAGA others(31): Show GAAAGAGAGAGAGAGAGAAAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp2 HG01192.hp1 HG01884.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0009 a0001c0004 a0004c0009	a0001c0004t0001 a0004c0009t0005 a0001c0004t0001 a0004c0009t0005	a0001c0004t0001g0097 a0004c0009t0005g0040 a0001c0004t0001g0097 a0004c0009t0005g0040	2	98	0.0204	38	c.174 others(59): Show c.1746-13607_1746-13606insAAGAGAGAGAGAGAGAAAGAGAGA AAGAAAGAAAGAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129622	G G	GAAAGAGA others(31): Show GAAAGAGAGAGAGAGAGAAAGAGAGAAAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0217 a0001c0003t0003g0217	1	97	0.0103	38	c.174 others(59): Show c.1746-13607_1746-13606insAAGAGAGAGAGAGAGAAAGAGAGA AAGAGAGAAAGAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00673.hp1 others(43): Show HG00280.hp2 HG00423.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01074.hp1 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02145.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02698.hp2 HG02723.hp1 HG03017.hp2 HG03041.hp2 HG03491.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 NA18612.hp2 NA18941.hp1 NA18955.hp2 NA18966.hp1 NA18975.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp2 NA19062.hp2 NA19074.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0002c0001 others(1): Show a0001c0002 a0001c0005 a0002c0001 a0003c0008	a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 others(9): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0002t0021 a0001c0002t0027 a0001c0002t0029 a0001c0002t0045 a0001c0002t0048 a0001c0005t0004 a0002c0001t0008 a0002c0001t0013 a0003c0008t0013	a0001c0002t0003g0049 a0001c0002t0003g0066 a0001c0002t0003g0067 others(43): Show a0001c0002t0003g0049 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0074 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0098 a0001c0002t0003g0113 a0001c0002t0003g0115 a0001c0002t0003g0142 a0001c0002t0004g0051 a0001c0002t0004g0056 a0001c0002t0004g0075 a0001c0002t0004g0078 a0001c0002t0004g0092 a0001c0002t0004g0102 a0001c0002t0004g0105 a0001c0002t0004g0106 a0001c0002t0004g0110 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0017g0109 a0001c0002t0021g0073 a0001c0002t0021g0156 a0001c0002t0027g0013 a0001c0002t0027g0014 a0001c0002t0029g0125 a0001c0002t0045g0063 a0001c0002t0048g0079 a0001c0005t0004g0103 a0002c0001t0008g0045 a0002c0001t0008g0050 a0002c0001t0008g0053 a0002c0001t0008g0055 a0002c0001t0013g0070 a0002c0001t0013g0083 a0002c0001t0013g0107 a0003c0008t0013g0081	46	222	0.2072	38	c.-26 others(59): Show c.-267-14753_-267-14752insGTGTGTGTGTTTGTGTGTGTGTGT GTGTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(31): Show CACACACACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0097 a0001c0002t0016g0097	1	121	0.0083	38	c.75 others(49): Show c.7579_*7580insACACACACATATATATATATATATATATATATAT ATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(31): Show CACACACATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA19062.hp2 HG02027.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0045 a0001c0002t0003 a0001c0002t0045	a0001c0002t0003g0049 a0001c0002t0045g0063 a0001c0002t0003g0049 a0001c0002t0045g0063	2	122	0.0164	38	c.75 others(49): Show c.7579_*7580insACACACATATATATATATATATATATATATATAT ATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	95026118	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0208 a0001c0001t0011g0208	1	223	0.0045	38	c.-18 others(57): Show c.-18+29986_-18+30023dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026122	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0207 a0001c0001t0009g0207	1	223	0.0045	38	c.-18 others(57): Show c.-18+29990_-18+30027dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026126	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	1	220	0.0045	38	c.-18 others(57): Show c.-18+30029_-18+30030insTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026140	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0179 a0001c0001t0010g0179	1	224	0.0045	38	c.-18 others(57): Show c.-18+30029_-18+30030insTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMS1_chr10_42777795_42839937	42786906	C C	CAGTCAGA others(31): Show CAGTCAGAATTTTCCCTTTTTGAGCACTTTTATTCATCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0160 a0004c0006t0005g0160	1	386	0.0026	38	c.368 others(53): Show c.368-261_368-224dupAGTCAGAATTTTCCCTTTTTGAGCACTTTT ATTCATCT	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02976.hp1 HG02683.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0063 a0001c0001t0015g0071 a0001c0001t0003g0063 a0001c0001t0015g0071	2	16	0.1250	38	c.3+9 others(51): Show c.3+9464_3+9465insATATATATATATATATATATATATATATATAT ATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173164049	G G	GAACACAG others(31): Show GAACACAGTGCCCCACTTTTCTGCAAGTAGCTGGCTTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0090 a0001c0001t0008g0090	1	350	0.0029	38	c.13 others(47): Show c.131_*168dupCACAGTGCCCCACTTTTCTGCAAGTAGCTGGCTTGT AA	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	6/6	169	INFO_REALIGN_3_PRIME	chr5	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(31): Show GAAACAGACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	204	0.0049	38	c.-97 others(47): Show c.-971_-970insAAACAGACACACACACACACACACACACACACACAC AC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BORCS8_chr19_19171906_19197152	19177696	G G	GGAAGGAA others(31): Show GGAAGGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	228	0.0044	38	c.43 others(53): Show c.43-237_*43-236insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT CTTCCTTC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFC_chr22_32408845_32469446	32424657	T T	TCCTCCTC others(31): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	294	0.0068	38	c.121 others(57): Show c.1218-5254_1218-5253insGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	22	0.0455	38	c.77 others(49): Show c.7748_*7749insATATATATATATATATATATATATATATATATAT ATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67868755	A A	ATTAAATA others(31): Show ATTAAATATATCTTTGGATATATTTAATCCAACCTTGTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	272	0.0037	38	c.166 others(57): Show c.1660+2068_1660+2069insTTAAATATATCTTTGGATATATTTAA TCCAACCTTGTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	3/27			chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	99	0.0101	38	c.530 others(57): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67986995	C C	CACACCTG others(31): Show CACACCTGTAATCCCAGCACTTCGGGAGGCTGAGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0012 a0002c0006t0002g0012	1	272	0.0037	38	c.47 others(49): Show c.4707_*4708insACACCTGTAATCCCAGCACTTCGGGAGGCTGAGG CGGG	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding		2618		chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100657	C C	CATATATA others(31): Show CATATATATATGTTATATATATATACATATATATAACAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp2 HG03540.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0124 a0003c0003t0003g0127 a0003c0003t0003g0124 a0003c0003t0003g0127	2	186	0.0108	38	c.442 others(53): Show c.442-778_442-777insATGTTATATATATGTATATATATATAACAT ATATATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02523.hp2 HG03041.hp2 others(2): Show HG02074.hp1 HG02523.hp2 HG03041.hp2 HG03579.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001	a0001c0001t0004g0094 a0001c0002t0001g0091 a0001c0002t0001g0093 others(2): Show a0001c0001t0004g0094 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0003t0001g0092	5	22	0.2273	38	c.-51 others(55): Show c.-51+1834_-51+1835insATATATATATATATATATATATATATAT ATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190277087	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	75	0.0133	38	c.427 others(55): Show c.427+4472_427+4473insTATATATATATATATATATATATATATA TATATATATA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	3/7			chr1	TogoVar
BRWD3_chrX_80664503_80814877	80700433	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG01261.hp1 others(4): Show HG00738.hp1 HG01168.hp2 HG01261.hp1 HG01517.hp1 NA18979.hp2 NA18984.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0029 a0001c0001t0036 a0001c0001t0074 a0001c0001t0102	a0001c0001t0004g0092 a0001c0001t0005g0251 a0001c0001t0014g0071 others(4): Show a0001c0001t0004g0092 a0001c0001t0005g0251 a0001c0001t0014g0071 a0001c0001t0029g0263 a0001c0001t0036g0063 a0001c0001t0074g0171 a0001c0001t0102g0257	7	9	0.7778	38	c.283 others(55): Show c.2836-370_2836-369insATATATATATATATATATATATATATAT ATATATATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	24/40			chrX	TogoVar
BSG_chr19_567596_588493	570627	C C	CGGGTTGG others(31): Show CGGGTTGGGAGGGGCGGAGGGGTGGGTGGGGGAGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG03471.hp2 HG02451.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0001 a0001c0001t0003 a0001c0010t0001	a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0010t0001g0070 a0001c0001t0003g0051 a0001c0001t0003g0069 a0001c0010t0001g0070	3	30	0.1000	38	c.-20 others(49): Show c.-2008_-2007insGGGTTGGGAGGGGCGGAGGGGTGGGTGGGGGAGG GGCG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1968		chr19	TogoVar
BSN_chr3_49549477_49676549	49605479	A A	ATATAATA others(31): Show ATATAATATATATAATATATATTATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0016 a0003c0004t0004g0016	1	184	0.0054	38	c.225 others(57): Show c.225-19484_225-19483insAATATATATTATATAATATATATTAT TATAATATATAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar

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