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
B4GALT5_chr20_49627945_49718878	49663691	ATATATAC others(6): Show ATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00621.hp2 others(17): Show HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01261.hp1 HG01346.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02738.hp2 HG03834.hp1 NA18969.hp2 NA18973.hp2 NA18982.hp1 NA18988.hp2 NA18994.hp1 NA19060.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19082.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0014 a0002c0004t0032 a0002c0004t0005 a0002c0004t0014 a0002c0004t0032	a0002c0004t0005g0218 a0002c0004t0005g0219 a0002c0004t0005g0220 others(17): Show a0002c0004t0005g0218 a0002c0004t0005g0219 a0002c0004t0005g0220 a0002c0004t0005g0221 a0002c0004t0005g0222 a0002c0004t0005g0224 a0002c0004t0005g0225 a0002c0004t0005g0226 a0002c0004t0005g0228 a0002c0004t0005g0229 a0002c0004t0005g0230 a0002c0004t0005g0231 a0002c0004t0005g0232 a0002c0004t0005g0233 a0002c0004t0005g0234 a0002c0004t0005g0240 a0002c0004t0005g0242 a0002c0004t0005g0243 a0002c0004t0014g0227 a0002c0004t0032g0241	20	274	0.0730	-13	c.116 others(30): Show c.116-7002_116-6990delATATATGTATATA	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	1/8			chr20	TogoVar
B4GALT6_chr18_31617246_31689581	31629447	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0252 a0001c0001t0022g0252	1	52	0.0192	-13	c.776 others(30): Show c.776+1499_776+1511delAAAAAAAAAAAAA	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding	6/8			chr18	TogoVar
B9D2_chr19_41349417_41369149	41360654	CGCCGCCA others(6): Show CGCCGCCATGCCCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 NA21309.hp1 HG01884.hp1 HG02723.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035	3	358	0.0084	-13	c.89- others(28): Show c.89-2645_89-2633delTGGGCATGGCGGC	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	2/3			chr19	TogoVar
BACE2_chr21_41163160_41287530	41221827	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp2 HG02145.hp2 others(8): Show HG01256.hp2 HG02109.hp2 HG02145.hp2 HG02809.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 others(6): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0061	a0001c0001t0006g0162 a0001c0001t0007g0076 a0001c0001t0007g0242 others(8): Show a0001c0001t0006g0162 a0001c0001t0007g0076 a0001c0001t0007g0242 a0001c0001t0011g0089 a0001c0001t0020g0262 a0001c0001t0021g0028 a0001c0001t0021g0086 a0001c0001t0033g0038 a0001c0001t0039g0005 a0001c0001t0040g0085 a0001c0001t0061g0104	11	126	0.0873	-13	c.313 others(30): Show c.313-4427_313-4415delAAAAAAAAAAAAA	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH1_chr21_29293922_29351148	29324231	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	317	0.0032	-13	c.235 others(30): Show c.235-1819_235-1807delAAAAAAAAAAAAA	BACH1	ENSG00000156273.16	transcript	ENST00000286800.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH2_chr6_89921528_90301843	90065270	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp1 NA19043.hp2 HG02615.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0050 a0001c0004t0066 a0001c0001t0003 a0001c0001t0050 a0001c0004t0066	a0001c0001t0003g0029 a0001c0001t0050g0025 a0001c0004t0066g0027 a0001c0001t0003g0029 a0001c0001t0050g0025 a0001c0004t0066g0027	3	10	0.3000	-13	c.-13 others(32): Show c.-13+23678_-13+23690delAAAAAAAAAAAAA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	5/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90177295	TTATTTTT others(6): Show TTATTTTTTCTTTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0185 a0001c0001t0123g0185	1	192	0.0052	-13	c.-16 others(34): Show c.-162+29261_-162+29273delCAAAGAAAAAATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAG4_chr8_38171855_38218301	38179149	ATTATTTT others(6): Show ATTATTTTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG02258.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0271 a0001c0001t0019g0272 a0001c0001t0001g0271 a0001c0001t0019g0272	2	304	0.0066	-13	c.270 others(30): Show c.270+2026_270+2038delATTTTTTATTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201863	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0279 a0001c0001t0008g0279	1	302	0.0033	-13	c.379 others(30): Show c.379-5648_379-5636delATATATATATATA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4			chr8	TogoVar
BAG4_chr8_38171855_38218301	38201865	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG03471.hp1 HG02257.hp2 HG02818.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0001g0177 a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0001g0177	3	300	0.0100	-13	c.379 others(30): Show c.379-5646_379-5634delATATATATATATA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4			chr8	TogoVar
BAG4_chr8_38171855_38218301	38205202	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0294 a0001c0001t0026g0294	1	122	0.0082	-13	c.379 others(30): Show c.379-2293_379-2281delTTTTTTTTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG6_chr6_31634028_31657661	31646766	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0184 a0002c0003t0001g0184	1	83	0.0120	-13	c.789 others(28): Show c.789-256_789-244delAAAAAAAAAAAAA	BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	7/25			chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81425305	GTGGGTGA others(6): Show GTGGGTGATGTGGT	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0202 a0005c0005t0005g0202	1	330	0.0030	-13	c.179 others(30): Show c.179-1490_179-1478delTGATGTGGTTGGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81446526	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0035 a0003c0002t0035	a0003c0002t0035g0197 a0003c0002t0035g0197	1	60	0.0167	-13	c.316 others(30): Show c.3164-484_3164-472delTTTTTTTTTTTTT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405333	CTTGCTTG others(6): Show CTTGCTTGCTTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0202 a0001c0002t0017g0202	1	296	0.0034	-13	c.-44 others(24): Show c.-4494_-4482delAGCAAGCAAGCAA	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4244		chr7	TogoVar
BAIAP2L2_chr22_38079900_38115684	38097998	CGGTCTCG others(6): Show CGGTCTCGCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01081.hp1 others(7): Show HG00099.hp1 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG02976.hp1 HG03669.hp1 NA19077.hp1 NA19077.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0001 a0003c0003 a0004c0004 others(1): Show a0002c0001 a0003c0003 a0004c0004 a0008c0005	a0002c0001t0001 a0003c0003t0001 a0003c0003t0002 others(2): Show a0002c0001t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0008c0005t0002	a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0006 others(7): Show a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0006 a0002c0001t0001g0012 a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018 a0004c0004t0001g0007 a0004c0004t0001g0013 a0008c0005t0002g0016	10	16	0.6250	-13	c.465 others(26): Show c.465+52_465+64delTCGGGGCGAGACC	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	6/13			chr22	TogoVar
BAIAP2L2_chr22_38079900_38115684	38101371	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01168.hp2 others(6): Show HG00099.hp1 HG01071.hp1 HG01168.hp2 HG02976.hp1 HG03669.hp1 NA19077.hp1 NA19077.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0001 a0003c0003 a0004c0004 others(1): Show a0002c0001 a0003c0003 a0004c0004 a0008c0005	a0002c0001t0001 a0003c0003t0001 a0003c0003t0002 others(2): Show a0002c0001t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0008c0005t0002	a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0006 others(6): Show a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0006 a0002c0001t0001g0012 a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018 a0004c0004t0001g0013 a0008c0005t0002g0016	9	11	0.8182	-13	c.277 others(30): Show c.277-2902_277-2890delTTTTTTTTTTTTT	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	4/13			chr22	TogoVar
BAIAP2L2_chr22_38079900_38115684	38111411	CGGTCAAG others(6): Show CGGTCAAGGCCAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01081.hp2 others(7): Show HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01168.hp2 HG02976.hp1 HG03669.hp1 HG03669.hp2 NA19077.hp1 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0002 a0002c0001 a0004c0004 others(2): Show a0001c0002 a0002c0001 a0004c0004 a0006c0006 a0007c0008	a0001c0002t0001 a0001c0002t0003 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0002c0001t0001 a0004c0004t0001 a0006c0006t0001 a0007c0008t0003	a0001c0002t0001g0011 a0001c0002t0003g0008 a0002c0001t0001g0002 others(7): Show a0001c0002t0001g0011 a0001c0002t0003g0008 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0006 a0002c0001t0001g0012 a0004c0004t0001g0007 a0004c0004t0001g0013 a0006c0006t0001g0005 a0007c0008t0003g0009	10	16	0.6250	-13	c.-89 others(22): Show c.-899_-887delCTTGGCCTTGACC	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding		728		chr22	TogoVar
BAK1_chr6_33567552_33585276	33577796	ACCTCGTG others(6): Show ACCTCGTGAGTCTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	432	0.0023	-13	c.-31 others(28): Show c.-31-174_-31-162delCAGACTCACGAGG	BAK1	ENSG00000030110.14	transcript	ENST00000374467.4	protein_coding	1/5			chr6	TogoVar
BAMBI_chr10_28672521_28687932	28677304	ACCAGCCG others(6): Show ACCAGCCGGGCGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	343	0.0029	-13	c.-59 others(22): Show c.-593_-581delCCAGCCGGGCGCC	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		216		chr10	TogoVar
BANF2_chr20_17694966_17740871	17708480	CTCAGAAG others(6): Show CTCAGAAGAGCCAG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	398	0.0025	-13	c.-16 others(32): Show c.-167+8429_-167+8441delGAAGAGCCAGTCA	BANF2	ENSG00000125888.15	transcript	ENST00000246090.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
BANK1_chr4_101785730_102079812	101803997	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18975.hp1 NA18747.hp1 NA18975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0209 a0002c0003t0002g0210	2	45	0.0444	-13	c.70+ others(30): Show c.70+13063_70+13075delAAAAAAAAAAAAA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG02630.hp2 others(1): Show HG00438.hp1 HG02040.hp1 HG02630.hp2 HG02922.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0004 a0004c0009 a0001c0002 a0003c0004 a0004c0009	a0001c0002t0004 a0003c0004t0001 a0004c0009t0001 a0001c0002t0004 a0003c0004t0001 a0004c0009t0001	a0001c0002t0004g0129 a0003c0004t0001g0252 a0004c0009t0001g0116 others(1): Show a0001c0002t0004g0129 a0003c0004t0001g0252 a0004c0009t0001g0116 a0004c0009t0001g0148	4	32	0.1250	-13	c.469 others(30): Show c.469+9768_469+9780delTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BAP1_chr3_52396008_52415008	52405492	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	164	0.0061	-13	c.932 others(28): Show c.932-211_932-199delTTTTTTTTTTTTT	BAP1	ENSG00000163930.10	transcript	ENST00000460680.6	protein_coding	10/16			chr3	TogoVar
BARD1_chr2_214720646_214814683	214770768	CGAAGGTA others(6): Show CGAAGGTAGACTGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0123 a0005c0006t0009g0123	1	360	0.0028	-13	c.131 others(32): Show c.1315-1469_1315-1457delACAGTCTACCTTC	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	4/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214785071	TTCTTCCC others(6): Show TTCTTCCCTCTACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(150): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0002 a0004 a0005 others(9): Show a0002 a0004 a0005 a0007 a0008 a0009 a0011 a0012 a0013 a0015 a0020 a0021	a0002c0001 a0002c0033 a0004c0007 others(11): Show a0002c0001 a0002c0033 a0004c0007 a0004c0010 a0005c0006 a0007c0008 a0008c0009 a0009c0012 a0011c0014 a0012c0013 a0013c0017 a0015c0025 a0020c0026 a0021c0031	a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 others(42): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0007 a0002c0001t0009 a0002c0001t0011 a0002c0001t0016 a0002c0001t0026 a0002c0001t0038 a0002c0001t0039 a0002c0001t0040 a0002c0001t0046 a0002c0001t0049 a0002c0033t0001 a0004c0007t0008 a0004c0007t0013 a0004c0007t0030 a0004c0007t0036 a0004c0007t0059 a0004c0007t0069 a0004c0010t0008 a0004c0010t0030 a0005c0006t0001 a0005c0006t0011 a0005c0006t0020 a0005c0006t0034 a0005c0006t0047 a0005c0006t0051 a0005c0006t0055 a0005c0006t0067 a0007c0008t0001 a0007c0008t0005 a0007c0008t0029 a0008c0009t0021 a0008c0009t0025 a0008c0009t0050 a0009c0012t0012 a0011c0014t0015 a0012c0013t0023 a0012c0013t0053 a0013c0017t0002 a0013c0017t0008 a0015c0025t0072 a0020c0026t0025 a0021c0031t0002	a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0010 others(127): Show a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0018 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0151 a0002c0001t0001g0153 a0002c0001t0001g0156 a0002c0001t0001g0158 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0171 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0193 a0002c0001t0001g0201 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0002g0020 a0002c0001t0002g0178 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0005g0200 a0002c0001t0007g0146 a0002c0001t0007g0150 a0002c0001t0007g0152 a0002c0001t0007g0170 a0002c0001t0007g0194 a0002c0001t0009g0143 a0002c0001t0011g0141 a0002c0001t0011g0172 a0002c0001t0011g0175 a0002c0001t0011g0204 a0002c0001t0016g0017 a0002c0001t0016g0137 a0002c0001t0016g0183 a0002c0001t0026g0159 a0002c0001t0026g0160 a0002c0001t0038g0179 a0002c0001t0039g0161 a0002c0001t0040g0187 a0002c0001t0046g0136 a0002c0001t0049g0214 a0002c0033t0001g0184 a0004c0007t0008g0037 a0004c0007t0008g0039 a0004c0007t0008g0043 a0004c0007t0008g0045 a0004c0007t0008g0132 a0004c0007t0013g0253 a0004c0007t0013g0257 a0004c0007t0013g0258 a0004c0007t0030g0040 a0004c0007t0036g0044 a0004c0007t0059g0252 a0004c0007t0069g0254 a0004c0010t0008g0005 a0004c0010t0008g0109 a0004c0010t0008g0111 a0004c0010t0030g0110 a0005c0006t0001g0035 a0005c0006t0001g0036 a0005c0006t0001g0041 a0005c0006t0001g0089 a0005c0006t0001g0098 a0005c0006t0001g0126 a0005c0006t0011g0088 a0005c0006t0020g0028 a0005c0006t0020g0029 a0005c0006t0020g0030 a0005c0006t0034g0251 a0005c0006t0047g0042 a0005c0006t0051g0216 a0005c0006t0055g0232 a0005c0006t0067g0323 a0007c0008t0001g0199 a0007c0008t0005g0002 a0007c0008t0005g0198 a0007c0008t0005g0202 a0007c0008t0029g0203 a0008c0009t0021g0003 a0008c0009t0025g0255 a0008c0009t0025g0256 a0008c0009t0050g0215 a0009c0012t0012g0019 a0009c0012t0012g0196 a0009c0012t0012g0197 a0009c0012t0012g0208 a0011c0014t0015g0007 a0011c0014t0015g0124 a0011c0014t0015g0125 a0012c0013t0023g0217 a0012c0013t0023g0219 a0012c0013t0023g0220 a0012c0013t0053g0218 a0013c0017t0002g0145 a0013c0017t0008g0180 a0015c0025t0072g0328 a0020c0026t0025g0321 a0021c0031t0002g0157	153	360	0.4250	-13	c.365 others(30): Show c.365-3575_365-3563delGGTAGAGGGAAGA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	3/10			chr2	TogoVar
BASP1_chr5_17212631_17281834	17267526	TTTTTGAG others(6): Show TTTTTGAGACGAAG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0248 a0001c0001t0007g0248	1	368	0.0027	-13	c.-9- others(28): Show c.-9-7680_-9-7668delTTTGAGACGAAGT	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
BASP1_chr5_17212631_17281834	17275983	ATCTCCTC others(6): Show ATCTCCTCTCTCTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0046 a0004c0007t0046	a0004c0007t0046g0310 a0004c0007t0046g0310	1	368	0.0027	-13	c.93 others(21): Show c.93_*105delTCTCTCTCCTCTC	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding	2/2	93	INFO_REALIGN_3_PRIME	chr5	TogoVar
BAX_chr19_48949875_48966798	48957265	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	95	0.0105	-13	c.369 others(28): Show c.369+947_369+959delTTTTTTTTTTTTT	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34784367	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	92	0.0109	-13	c.183 others(30): Show c.1832-453_1832-441delTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	14/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34836378	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01109.hp2 others(8): Show HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01952.hp1 HG02486.hp1 HG02630.hp2 HG04228.hp1 NA19001.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0302 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0324	11	256	0.0430	-13	c.393 others(32): Show c.393-10235_393-10223delTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34844205	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02258.hp2 others(5): Show HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02622.hp2 HG03225.hp2 HG03486.hp1 NA19005.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 a0001c0002 a0001c0004 a0001c0013	a0001c0002t0003 a0001c0002t0004 a0001c0004t0004 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0004t0004 a0001c0013t0004	a0001c0002t0003g0185 a0001c0002t0004g0364 a0001c0002t0004g0365 others(5): Show a0001c0002t0003g0185 a0001c0002t0004g0364 a0001c0002t0004g0365 a0001c0002t0004g0366 a0001c0002t0004g0367 a0001c0004t0004g0360 a0001c0004t0004g0361 a0001c0013t0004g0046	8	107	0.0748	-13	c.392 others(32): Show c.392+17826_392+17838delTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73456937	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02055.hp1 HG02738.hp2 HG01070.hp2 HG02055.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0003g0195 a0001c0001t0005g0196 a0001c0002t0001g0093 a0001c0001t0003g0195 a0001c0001t0005g0196 a0001c0002t0001g0093	3	10	0.3000	-13	c.343 others(32): Show c.3432+2586_3432+2598delTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73511500	CAAAAAAT others(6): Show CAAAAAATAAAAAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03516.hp1 NA20129.hp1 HG03130.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182	3	198	0.0152	-13	c.108 others(28): Show c.108-661_108-649delATTTTTATTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	1/19			chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73523912	TGGAGACC others(6): Show TGGAGACCATCCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0197 a0001c0003t0006g0197	1	198	0.0051	-13	c.-19 others(24): Show c.-1992_-1980delCAGGATGGTCTCC	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		1620		chr7	TogoVar
BAZ1B_chr7_73435406_73527293	73524009	GGGAAGCT others(6): Show GGGAAGCTGAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0197 a0001c0003t0006g0197	1	198	0.0051	-13	c.-20 others(24): Show c.-2089_-2077delTGCCTCAGCTTCC	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		1717		chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597621	AGCGCGCT others(6): Show AGCGCGCTCTGAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0199 a0001c0003t0002g0199	1	303	0.0033	-13	c.98 others(22): Show c.984_*996delCCTCAGAGCGCGC	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	984		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159495484	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	46	0.0217	-13	c.-2- others(30): Show c.-2-16776_-2-16764delTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00544.hp1 others(30): Show HG00099.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01123.hp2 HG01168.hp1 HG01258.hp1 HG03710.hp1 HG03834.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19057.hp1 NA19064.hp1 NA19070.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0019	a0001c0001 a0001c0008 a0002c0002 others(6): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0009c0014 a0010c0031 a0019c0015	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0002c0002t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0005c0005t0002 a0009c0014t0002 a0010c0031t0001 a0019c0015t0002	a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0002g0150 others(30): Show a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0008t0002g0179 a0002c0002t0002g0151 a0002c0002t0002g0163 a0002c0002t0002g0201 a0003c0003t0002g0182 a0004c0004t0001g0109 a0004c0004t0002g0202 a0005c0005t0002g0167 a0005c0005t0002g0173 a0005c0005t0002g0203 a0009c0014t0002g0181 a0010c0031t0001g0108 a0019c0015t0002g0168	33	89	0.3708	-13	c.-46 others(32): Show c.-46+26042_-46+26054delTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBLN_chr9_128155265_128168924	128159595	AAGAGGTA others(6): Show AAGAGGTATATCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	394	0.0025	-13	c.-81 others(22): Show c.-812_-800delAGAGGTATATCCG	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding		669		chr9	TogoVar
BBOF1_chr14_74014349_74071092	74037274	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	236	0.0042	-13	c.495 others(30): Show c.495+3118_495+3130delTTTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74062051	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02647.hp2 others(5): Show HG02145.hp2 HG02572.hp2 HG02647.hp2 HG02809.hp1 HG03041.hp1 HG03130.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0007 a0001c0001t0003 a0001c0008t0007	a0001c0001t0003g0005 a0001c0001t0003g0024 a0001c0001t0003g0025 others(5): Show a0001c0001t0003g0005 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0337 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0008t0007g0137 a0001c0008t0007g0139	8	166	0.0482	-13	c.157 others(32): Show c.1579-2620_1579-2608delAAAAAAAAAAAAA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBS4_chr15_72681207_72743473	72726099	CTTCCTTC others(6): Show CTTCCTTCCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01070.hp2 others(19): Show HG00099.hp2 HG00735.hp1 HG01070.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01891.hp2 HG02559.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp2 HG03942.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA20752.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0007 a0008c0011 a0001c0001 a0001c0007 a0008c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0007t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0035 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0005g0039 a0001c0001t0005g0145 a0001c0001t0007g0022 a0001c0001t0007g0043 a0001c0007t0001g0054 a0008c0011t0001g0041	22	396	0.0556	-13	c.587 others(30): Show c.587+1457_587+1469delTTTCCTTCCTTTC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp1 others(20): Show HG00140.hp1 HG00323.hp1 HG00558.hp1 HG00621.hp1 HG01175.hp1 HG02080.hp1 HG02135.hp2 HG02717.hp1 HG03491.hp2 NA18747.hp1 NA18978.hp2 NA18990.hp1 NA18991.hp1 NA19001.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19082.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0004c0008t0002	a0001c0001t0001g0064 a0001c0001t0002g0086 a0001c0001t0002g0096 others(17): Show a0001c0001t0001g0064 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0003g0060 a0001c0001t0005g0013 a0001c0001t0005g0030 a0001c0001t0005g0050 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0072 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0013g0013 a0001c0001t0013g0071 a0004c0008t0002g0082	23	35	0.6571	-13	c.386 others(30): Show c.386+1766_386+1778delTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33256155	TAAAAACA others(6): Show TAAAAACAAACAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(28): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01358.hp1 HG01517.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG04199.hp1 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp2 NA19090.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0025 a0002c0002 others(1): Show a0001c0001 a0001c0025 a0002c0002 a0015c0024	a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0025t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0015c0024t0011	a0001c0001t0003g0009 a0001c0001t0003g0027 a0001c0001t0003g0038 others(28): Show a0001c0001t0003g0009 a0001c0001t0003g0027 a0001c0001t0003g0038 a0001c0001t0004g0013 a0001c0025t0003g0030 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0017 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0011g0014 a0002c0002t0011g0016 a0002c0002t0014g0005 a0002c0002t0014g0029 a0015c0024t0011g0024	31	266	0.1165	-13	c.443 others(30): Show c.443-1061_443-1049delAAACAAAAAAAAC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33492212	AACAAAAA others(6): Show AACAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0265 a0001c0001t0001g0266	2	266	0.0075	-13	c.211 others(34): Show c.2116-13249_2116-13237delCAAAAAAAAAACA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107584672	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	21	0.0476	-13	c.-84 others(32): Show c.-84+58298_-84+58310delTTTTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107596589	GCAGAGAA others(6): Show GCAGAGAAGCAGAC	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	220	0.0045	-13	c.-83 others(32): Show c.-83-49241_-83-49229delAAGCAGACCAGAG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769228	AGACAGAT others(6): Show AGACAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02965.hp2 HG01975.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0044 a0001c0001t0002 a0001c0001t0044	a0001c0001t0002g0102 a0001c0001t0044g0213 a0001c0001t0002g0102 a0001c0001t0044g0213	2	220	0.0091	-13	c.907 others(30): Show c.907-3397_907-3385delCAGATAGATAGGA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAS1_chr20_53938541_54075594	54042754	GAAGAAAT others(6): Show GAAGAAATAATGAA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0014 a0003c0003t0005g0014	1	362	0.0028	-13	c.143 others(32): Show c.143-13795_143-13783delTTCATTATTTCTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar

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