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
BAZ1A_chr14_34747731_34880360	34832215	C C	CACATATA others(3): Show CACATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02615.hp1 HG00544.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0005 a0002c0006t0002 a0001c0003t0005 a0002c0006t0002	a0001c0003t0005g0004 a0002c0006t0002g0053 a0001c0003t0005g0004 a0002c0006t0002g0053	2	175	0.0114	10	c.393 others(27): Show c.393-6060_393-6059insATATATATGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34836378	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02647.hp1 HG02155.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0299 a0001c0001t0001g0247 a0001c0001t0001g0299	2	247	0.0081	10	c.393 others(29): Show c.393-10232_393-10223dupTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34839839	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0046 a0001c0013t0004g0046	1	157	0.0064	10	c.393 others(29): Show c.393-13693_393-13684dupTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAGA others(3): Show AAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02965.hp1 NA18984.hp2 HG01168.hp2 HG02965.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0300 a0001c0001t0001g0308 a0001c0001t0001g0309	3	106	0.0283	10	c.114 others(27): Show c.114-4181_114-4180insCTTTCTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34872913	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0195 a0001c0003t0005g0195	1	96	0.0104	10	c.113 others(27): Show c.113+1569_113+1578dupTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73456937	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	8	0.1250	10	c.343 others(29): Show c.3432+2589_3432+2598dupTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0182 a0001c0001t0005g0182	1	127	0.0079	10	c.571 others(27): Show c.571+1422_571+1431dupTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73512028	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	102	0.0098	10	c.108 others(27): Show c.108-1186_108-1177dupTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	1/19			chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597562	G G	GCACACAC others(3): Show GCACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(93): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0005c0010	a0001c0001t0002 a0001c0001t0010 a0001c0001t0020 others(4): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0020 a0001c0001t0035 a0001c0003t0002 a0001c0011t0002 a0005c0010t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(58): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0096 a0001c0001t0002g0120 a0001c0001t0002g0143 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0010g0214 a0001c0001t0010g0215 a0001c0001t0010g0223 a0001c0001t0010g0229 a0001c0001t0020g0137 a0001c0001t0035g0061 a0001c0003t0002g0025 a0001c0003t0002g0183 a0001c0003t0002g0197 a0001c0003t0002g0199 a0001c0011t0002g0136 a0005c0010t0002g0119	96	101	0.9505	10	c.10 others(21): Show c.1046_*1055dupTGTGTGTGTG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1055		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597562	G G	GCGCACAC others(3): Show GCGCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0188 a0001c0002t0024g0188	1	6	0.1667	10	c.10 others(21): Show c.1055_*1056insTGTGTGTGCG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1055		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(3): Show GACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02809.hp1 others(3): Show HG02486.hp1 HG02622.hp1 HG02809.hp1 HG02976.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016	a0001c0002t0001g0024 a0001c0002t0003g0196 a0001c0002t0003g0210 others(1): Show a0001c0002t0001g0024 a0001c0002t0003g0196 a0001c0002t0003g0210 a0001c0002t0016g0023	6	100	0.0600	10	c.97 others(19): Show c.971_*980dupGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159317000	C C	CAATAAAA others(3): Show CAATAAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	39	0.0256	10	c.32 others(21): Show c.3264_*3265insTTATTTTATT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding		1978		chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159377812	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03710.hp2 NA18968.hp2 HG01192.hp1 HG03710.hp2 NA18968.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0013 a0012c0012 a0001c0001 a0003c0013 a0012c0012	a0001c0001t0002 a0003c0013t0006 a0012c0012t0001 a0001c0001t0002 a0003c0013t0006 a0012c0012t0001	a0001c0001t0002g0176 a0003c0013t0006g0058 a0012c0012t0001g0074 a0001c0001t0002g0176 a0003c0013t0006g0058 a0012c0012t0001g0074	3	59	0.0508	10	c.400 others(29): Show c.4006-3069_4006-3060dupTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA20129.hp1 HG02647.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0030 a0002c0002t0001g0011 a0001c0001t0001g0030 a0002c0002t0001g0011	2	64	0.0313	10	c.-2- others(27): Show c.-2-13009_-2-13000dupTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159519210	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	48	0.0208	10	c.-3+ others(27): Show c.-3+36603_-3+36612dupAAAAAAAAAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159604932	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02109.hp2 HG02300.hp2 others(5): Show HG01934.hp2 HG02109.hp2 HG02300.hp2 NA18963.hp1 NA18984.hp2 NA18999.hp2 NA19082.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0002 a0005c0005t0002	a0001c0001t0002g0204 a0001c0001t0002g0205 a0002c0002t0001g0050 others(5): Show a0001c0001t0002g0204 a0001c0001t0002g0205 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0002g0201 a0002c0002t0002g0206 a0004c0004t0002g0202 a0005c0005t0002g0203	8	123	0.0650	10	c.-46 others(29): Show c.-46+11300_-46+11309dupCACACACACA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47217194	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp1 others(36): Show HG00099.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG01928.hp2 HG02257.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG04184.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18984.hp2 NA18993.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0028	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0060 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0060 a0001c0001t0001g0204 a0001c0001t0002g0018 a0001c0001t0002g0169 a0001c0001t0002g0185 a0001c0001t0003g0059 a0001c0001t0003g0136 a0001c0001t0003g0182 a0001c0001t0004g0007 a0001c0001t0004g0135 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0005g0219 a0001c0001t0009g0013 a0001c0001t0009g0071 a0001c0001t0013g0037 a0001c0001t0013g0072 a0001c0001t0015g0025 a0001c0001t0018g0063 a0001c0001t0028g0181	39	72	0.5417	10	c.46 others(21): Show c.4607_*4608insAAAAAAAAAA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding		3629		chr19	TogoVar
BBLN_chr9_128155265_128168924	128155573	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02486.hp2 others(2): Show HG01109.hp2 HG02145.hp2 HG02486.hp2 HG03486.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0043	5	174	0.0287	10	c.-48 others(21): Show c.-4835_-4834insCCCCCCCCCC	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding		4691		chr9	TogoVar
BBOF1_chr14_74014349_74071092	74028467	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	164	0.0061	10	c.286 others(25): Show c.286-681_286-672dupCACACACACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74035584	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02723.hp2 others(1): Show HG02145.hp2 HG02257.hp1 HG02723.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0005c0005t0005 a0001c0001t0003 a0005c0005t0005	a0001c0001t0003g0337 a0005c0005t0005g0345 a0005c0005t0005g0346 others(1): Show a0001c0001t0003g0337 a0005c0005t0005g0345 a0005c0005t0005g0346 a0005c0005t0005g0347	4	110	0.0364	10	c.495 others(27): Show c.495+1432_495+1441dupTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74059083	T T	TCAAAAAA others(3): Show TCAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0063 a0003c0003t0001g0063	1	375	0.0027	10	c.157 others(29): Show c.1578+1826_1578+1835dupCAAAAAAAAA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27038522	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA18950.hp2 HG02717.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0234 a0001c0003t0005g0037 a0001c0001t0001g0234 a0001c0003t0005g0037	2	63	0.0317	10	c.-28 others(21): Show c.-2808_-2807insACACACACAC	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding		2292		chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054205	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0076 a0001c0007t0001g0071 a0001c0002t0001g0076 a0001c0007t0001g0071	2	73	0.0274	10	c.-38 others(27): Show c.-38-1167_-38-1158dupTGTGTGTGTG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19060.hp1 HG01192.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0082 a0001c0001t0003g0242 a0001c0001t0001g0082 a0001c0001t0003g0242	2	248	0.0081	10	c.-38 others(27): Show c.-38-1158_-38-1157insTGTGTGTGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG02109.hp2 others(7): Show HG00735.hp2 HG01109.hp2 HG02109.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03486.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 others(2): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 a0001c0003t0005 a0001c0004t0003	a0001c0001t0003g0019 a0001c0001t0003g0239 a0001c0001t0003g0252 others(6): Show a0001c0001t0003g0019 a0001c0001t0003g0239 a0001c0001t0003g0252 a0001c0002t0003g0021 a0001c0002t0006g0254 a0001c0002t0006g0255 a0001c0002t0006g0264 a0001c0003t0005g0268 a0001c0004t0003g0238	10	205	0.0488	10	c.220 others(25): Show c.220-138_220-137insAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBOX1_chr11_27035815_27132809	27085555	A A	ATCTCTCT others(3): Show ATCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG03041.hp2 others(3): Show HG01081.hp1 HG01081.hp2 HG03041.hp2 HG03130.hp2 HG03492.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0213 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0213 a0001c0001t0003g0252 a0001c0002t0004g0125 a0001c0002t0004g0136	6	95	0.0632	10	c.335 others(27): Show c.335-7581_335-7572dupCTCTCTCTCT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27128269	T T	TCCCAGCT others(3): Show TCCCAGCTACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	316	0.0032	10	c.81 others(19): Show c.816_*817insCCCAGCTACC	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding		461		chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02738.hp1 HG03098.hp1 HG01943.hp1 HG02738.hp1 HG03098.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0096 a0003c0003t0003g0036 a0002c0002t0002g0096 a0003c0003t0003g0036	3	70	0.0429	10	c.-11 others(25): Show c.-11+532_-11+541dupCACACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS1_chr11_66505635_66538598	66512020	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03831.hp1 HG04204.hp1 HG02056.hp2 HG03831.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077	3	379	0.0079	10	c.159 others(25): Show c.159+805_159+814dupATATATATGT	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS1_chr11_66505635_66538598	66532744	C C	CAGCCCAC others(3): Show CAGCCCACAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0216 a0001c0001t0013g0216	1	384	0.0026	10	c.70 others(19): Show c.707_*708insAGCCCACAGG	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	17/17	708		chr11	TogoVar
BBS1_chr11_66505635_66538598	66537926	C C	CAAATAAA others(3): Show CAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02132.hp2 HG02165.hp1 others(9): Show HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02280.hp1 HG02738.hp1 HG02738.hp2 HG03130.hp1 HG03492.hp1 NA18960.hp2 NA18966.hp2 NA19057.hp1 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0004t0005	a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 others(8): Show a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0056 a0001c0001t0002g0217 a0001c0001t0006g0001 a0001c0001t0006g0209 a0001c0001t0006g0221 a0003c0004t0005g0236	12	157	0.0764	10	c.58 others(21): Show c.5889_*5890insAAATAAAATA	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding		4329		chr11	TogoVar
BBS2_chr16_56479385_56525024	56522110	C C	CAGTGAGC others(3): Show CAGTGAGCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	396	0.0025	10	c.-22 others(21): Show c.-2249_-2248insCATGCTCACT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		2087		chr16	TogoVar
BBS2_chr16_56479385_56525024	56523702	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	332	0.0030	10	c.-38 others(21): Show c.-3850_-3841dupAAAAAAAAAA	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		3679		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	14	0.0714	10	c.24+ others(23): Show c.24+874_24+883dupTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0145 a0001c0001t0005g0145	1	18	0.0556	10	c.24+ others(25): Show c.24+2171_24+2180dupTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713314	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01123.hp1 others(26): Show HG00280.hp1 HG00280.hp2 HG01123.hp1 HG01167.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02683.hp1 HG02818.hp1 HG02895.hp1 HG03579.hp2 HG03688.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18946.hp1 NA18960.hp2 NA18971.hp1 NA18972.hp2 NA18989.hp2 NA19009.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0009 a0001c0001 a0002c0002 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0010c0009t0001	a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0330 others(25): Show a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0374 a0001c0001t0002g0004 a0001c0001t0002g0268 a0001c0001t0002g0283 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0327 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0347 a0001c0001t0002g0393 a0001c0001t0003g0355 a0002c0002t0001g0204 a0002c0002t0001g0212 a0002c0002t0001g0236 a0002c0002t0001g0257 a0002c0002t0001g0261 a0002c0002t0001g0297 a0002c0002t0001g0353 a0010c0009t0001g0310	29	202	0.1436	10	c.220 others(27): Show c.220+1034_220+1043dupACACACACAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713353	A A	ACACGCAC others(3): Show ACACGCACACG	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA20752.hp1 HG03491.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0177 a0002c0002t0001g0289 a0001c0001t0002g0177 a0002c0002t0001g0289	2	396	0.0051	10	c.220 others(27): Show c.220+1053_220+1054insACGCACGCAC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713355	A A	ACACACAC others(3): Show ACACACACACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	394	0.0025	10	c.220 others(27): Show c.220+1049_220+1050insACACACACGC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725057	T T	TATATAGA others(3): Show TATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0298 a0002c0002t0001g0298	1	140	0.0071	10	c.587 others(25): Show c.587+403_587+404insTATAGAGAGA	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72729263	T T	TGGAGACG others(3): Show TGGAGACGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	396	0.0025	10	c.643 others(25): Show c.643-353_643-352insGGAGACGGAG	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	9/15			chr15	TogoVar
BBS7_chr4_121819329_121875474	121832009	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02602.hp2 others(6): Show HG01192.hp1 HG02055.hp1 HG02602.hp2 HG02615.hp1 HG03130.hp2 HG03491.hp1 HG03710.hp2 HG03942.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0146 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0003g0092 a0001c0001t0005g0112	9	136	0.0662	10	c.167 others(29): Show c.1676+1212_1676+1221dupGTGTGTGTGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18			chr4	TogoVar
BBS7_chr4_121819329_121875474	121868684	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0210 a0001c0001t0011g0210	1	39	0.0256	10	c.37- others(23): Show c.37-648_37-639dupTTTTTTTTTT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	1/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33180895	C C	CTCACATA others(3): Show CTCACATACCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp1 HG01981.hp2 others(30): Show HG00423.hp2 HG01975.hp1 HG01981.hp2 HG02074.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG03834.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18967.hp1 NA18980.hp1 NA18982.hp2 NA19000.hp2 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0020 a0001c0026 others(4): Show a0001c0001 a0001c0020 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0020t0002 a0001c0026t0001 a0002c0002t0001 a0002c0002t0005 a0002c0017t0001 a0003c0003t0001 a0008c0007t0002	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(30): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0048 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0016g0071 a0001c0020t0002g0069 a0001c0026t0001g0068 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0005g0192 a0002c0017t0001g0267 a0003c0003t0001g0047 a0003c0003t0001g0060 a0008c0007t0002g0046	33	266	0.1241	10	c.442 others(27): Show c.442+3304_442+3305insTCACATACCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02559.hp2 others(7): Show HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03453.hp1 HG03486.hp1 HG04228.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0013	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0009c0008 a0013c0018	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0005c0005t0007 a0009c0008t0002 a0013c0018t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 others(7): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0203 a0001c0001t0001g0261 a0002c0002t0001g0130 a0002c0002t0007g0165 a0005c0005t0007g0128 a0009c0008t0002g0121 a0013c0018t0001g0127	10	87	0.1149	10	c.442 others(29): Show c.442+10512_442+10521dupTGTGTGTGTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33203717	A A	ACTTTTCT others(3): Show ACTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0009 a0001c0010 others(23): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013 a0001c0020 a0001c0021 a0001c0023 a0001c0025 a0001c0026 a0002c0002 a0002c0017 a0003c0003 a0004c0004 a0004c0022 a0005c0005 a0006c0011 a0006c0012 a0007c0006 a0008c0007 a0009c0008 a0010c0019 a0011c0014 a0012c0016 a0013c0018 a0014c0015 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0009t0001 a0001c0010t0001 a0001c0013t0010 a0001c0020t0002 a0001c0021t0001 a0001c0023t0001 a0001c0025t0003 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0014 a0002c0002t0019 a0002c0017t0001 a0003c0003t0001 a0004c0004t0001 a0004c0022t0001 a0005c0005t0001 a0005c0005t0007 a0006c0011t0001 a0006c0012t0007 a0006c0012t0015 a0007c0006t0001 a0007c0006t0002 a0007c0006t0005 a0008c0007t0001 a0008c0007t0002 a0009c0008t0001 a0009c0008t0002 a0010c0019t0003 a0011c0014t0001 a0012c0016t0002 a0013c0018t0001 a0014c0015t0001 a0015c0024t0011	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(262): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0048 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0013 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0089 a0001c0001t0005g0096 a0001c0001t0005g0202 a0001c0001t0005g0218 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0081 a0001c0001t0006g0099 a0001c0001t0006g0101 a0001c0001t0006g0107 a0001c0001t0006g0243 a0001c0001t0007g0228 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0009g0211 a0001c0001t0009g0214 a0001c0001t0009g0215 a0001c0001t0010g0117 a0001c0001t0010g0170 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0016g0071 a0001c0001t0017g0226 a0001c0001t0018g0171 a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0010t0001g0079 a0001c0010t0001g0167 a0001c0013t0010g0260 a0001c0020t0002g0069 a0001c0021t0001g0251 a0001c0023t0001g0168 a0001c0025t0003g0030 a0001c0026t0001g0068 a0002c0002t0001g0130 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0160 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0017 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0018 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0005g0192 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0011g0014 a0002c0002t0011g0016 a0002c0002t0014g0005 a0002c0002t0014g0029 a0002c0002t0019g0043 a0002c0017t0001g0267 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0145 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185 a0005c0005t0001g0139 a0005c0005t0001g0180 a0005c0005t0007g0128 a0005c0005t0007g0138 a0006c0011t0001g0236 a0006c0011t0001g0238 a0006c0012t0007g0235 a0006c0012t0015g0237 a0007c0006t0001g0115 a0007c0006t0002g0084 a0007c0006t0005g0085 a0008c0007t0001g0149 a0008c0007t0002g0046 a0009c0008t0001g0122 a0009c0008t0002g0121 a0010c0019t0003g0250 a0011c0014t0001g0102 a0012c0016t0002g0268 a0013c0018t0001g0127 a0014c0015t0001g0098 a0015c0024t0011g0024	265	266	0.9962	10	c.442 others(29): Show c.442+26132_442+26141dupCTTTTCTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33249226	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp2 NA19030.hp1 others(1): Show HG02630.hp2 HG02886.hp2 NA19030.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0022 a0001c0001 a0004c0004 a0004c0022	a0001c0001t0001 a0004c0004t0001 a0004c0022t0001 a0001c0001t0001 a0004c0004t0001 a0004c0022t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0004c0004t0001g0187 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0004c0004t0001g0187 a0004c0022t0001g0185	4	129	0.0310	10	c.443 others(27): Show c.443-7993_443-7984dupACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33368577	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04204.hp2 HG06807.hp1 HG03491.hp2 HG04204.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0001 a0001c0001t0003 a0001c0010t0001	a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0010t0001g0167 a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0010t0001g0167	3	135	0.0222	10	c.178 others(27): Show c.1789+746_1789+755dupACACACACAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33384715	T T	TGTGAGAG others(3): Show TGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG03017.hp1 HG00140.hp2 HG01106.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0009g0214 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0009g0214	3	220	0.0136	10	c.196 others(27): Show c.1962+878_1962+879insTGAGAGAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33384715	T T	TGTGTGAG others(3): Show TGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01516.hp2 others(1): Show HG01175.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0211 a0001c0001t0009g0215 a0001c0001t0012g0212 others(1): Show a0001c0001t0009g0211 a0001c0001t0009g0215 a0001c0001t0012g0212 a0001c0001t0012g0213	4	221	0.0181	10	c.196 others(27): Show c.1962+878_1962+879insTGTGAGAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33390907	T T	TAGTAGCA others(3): Show TAGTAGCAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0102 a0011c0014t0001g0102	1	266	0.0038	10	c.211 others(29): Show c.2115+2763_2115+2764insAGTAGCAGAG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22			chr7	TogoVar

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