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
BABAM2_chr2_27885729_28343901	28112189	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	125	0.0080	48	c.571 others(67): Show c.571-17079_571-17078insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	74	0.0135	48	c.571 others(67): Show c.571-17071_571-17070insCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	74	0.0135	48	c.571 others(67): Show c.571-17071_571-17070insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	74	0.0135	48	c.571 others(67): Show c.571-17042_571-17041insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAG3_chr10_119646380_119682819	119675877	T T	TCCCCTTC others(41): Show TCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	360	0.0028	48	c.910 others(63): Show c.910-555_910-554insCCTTTTCCCCCCTTCCCCCCTTCCTTCCTT CCTTCCTTCCCCCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675879	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG01257.hp2 others(4): Show HG00735.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0114 a0001c0001t0005g0264 others(3): Show a0001c0001t0005g0047 a0001c0001t0005g0114 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0289 a0001c0001t0005g0290	7	372	0.0188	48	c.910 others(63): Show c.910-571_910-570insCCCCTTCCCCTTTTCCCCCCTTCCCCCCTT CCTTCCTTCCTTCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675902	C C	CCTTTTCC others(41): Show CCTTTTCCCCCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0002 a0008c0021t0002	a0008c0021t0002g0142 a0008c0021t0002g0142	1	310	0.0032	48	c.910 others(63): Show c.910-561_910-560insTTTTCCCCCCTTCCCCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675903	C C	CTTTTCCC others(41): Show CTTTTCCCCCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19081.hp2 NA19009.hp1 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0045 a0002c0003t0002g0045	2	406	0.0049	48	c.910 others(63): Show c.910-561_910-560insTTTTCCCCCCTTCCCCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3			chr10	TogoVar
BAHCC1_chr17_81390457_81471331	81432697	G G	GCATCCCC others(41): Show GCATCCCCAGGCCCACCCTCCCCCGCATCCCCAGGCCCACCCTCCCCGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0300 a0002c0003t0003g0300	1	329	0.0030	48	c.359 others(65): Show c.359-5651_359-5650insCGCATCCCCAGGCCCACCCTCCCCGCCA TCCCCAGGCCCACCCTCCCC	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81053746	G G	GGAACTGC others(41): Show GGAACTGCGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0119 a0001c0001t0004g0016 a0001c0001t0004g0017 others(1): Show a0001c0001t0003g0119 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018	4	373	0.0107	48	c.130 others(62): Show c.130+58_130+105dupCGCCCGGGCCCCGTGGGGTGGGAGCTGCCTC CTGAGCTGGTAGAACTG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81053801	C C	CGCCCGGG others(41): Show CGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00735.hp1 others(15): Show HG00280.hp1 HG00280.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01891.hp1 HG02280.hp1 HG02735.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp1 HG03486.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG04204.hp2 NA19087.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0005 a0002c0002t0002 a0003c0010t0001	a0001c0001t0001g0026 a0001c0001t0001g0312 a0001c0001t0001g0314 others(15): Show a0001c0001t0001g0026 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0328 a0001c0001t0001g0356 a0001c0001t0003g0355 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0311 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0006g0300 a0001c0003t0005g0374 a0002c0002t0002g0315 a0003c0010t0001g0048	18	333	0.0541	48	c.130 others(63): Show c.130+166_130+213dupGTGGGGTGGGAGCTGCCTCCTGAGCTGGTA GAACTGTGCCCGGGCCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81053806	G G	GGGCCCCG others(41): Show GGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG01884.hp2 others(2): Show HG01167.hp2 HG01168.hp2 HG01884.hp2 HG02809.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0011 a0001c0001t0002 a0001c0004t0011	a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 others(2): Show a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0004t0011g0062	5	374	0.0134	48	c.130 others(63): Show c.130+110_130+111insAGGCCCCGTGGGGTGGGAGCTGCCTCCTGA GCTGGTAGAACTGTGCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81053861	G G	GTGGGGTG others(41): Show GTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp2 HG01884.hp1 others(17): Show HG00140.hp1 HG01257.hp2 HG01884.hp1 HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02717.hp1 HG02896.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp2 HG04184.hp1 NA18963.hp1 NA18983.hp1 NA18986.hp1 NA18993.hp2 NA18995.hp1 NA19002.hp1 NA19012.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0030 a0001c0007t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0040 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0313 a0001c0001t0001g0363 a0001c0001t0003g0117 a0001c0001t0004g0039 a0001c0001t0005g0301 a0001c0001t0018g0025 a0001c0001t0030g0302 a0001c0007t0001g0037 a0001c0007t0001g0038 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034	20	333	0.0601	48	c.130 others(63): Show c.130+165_130+166insATGGGGTGGGAGCTGCCTCCTGAGCTGGTA GAACTGTGCCCGGGCCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81054195	G G	GTGGGGTG others(41): Show GTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0263 a0001c0003t0001g0263	1	296	0.0034	48	c.130 others(63): Show c.130+493_130+540dupGGGCCCCTTGGGGTGGGAGCTGCCTCCTGA GCTGGTAGAACTGTGCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(41): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02300.hp1 HG02738.hp1 others(3): Show HG01346.hp1 HG02300.hp1 HG02738.hp1 HG03130.hp1 NA19010.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0015t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0015t0003 a0002c0002t0002	a0001c0001t0001g0170 a0001c0001t0001g0356 a0001c0003t0001g0254 others(3): Show a0001c0001t0001g0170 a0001c0001t0001g0356 a0001c0003t0001g0254 a0001c0015t0003g0335 a0002c0002t0002g0105 a0002c0002t0002g0113	6	65	0.0923	48	c.131 others(63): Show c.131-986_131-939dupGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(41): Show CACACACACACACACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0361 a0001c0004t0004g0361	1	174	0.0057	48	c.393 others(65): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT ATATATGTGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ2B_chr2_159313979_159621548	159555724	A A	AGAAATAA others(41): Show AGAAATAATAATTTCAAATTATATATGTTTTCTAACCCTAAATGATATT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG02717.hp2 others(5): Show HG01261.hp1 HG01361.hp2 HG02717.hp2 HG03516.hp2 HG03654.hp1 HG03834.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0006c0006 a0006c0016	a0001c0001t0002 a0001c0001t0009 a0002c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0009 a0002c0002t0002 a0002c0007t0002 a0006c0006t0002 a0006c0016t0002	a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0144 others(5): Show a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0144 a0001c0001t0009g0132 a0002c0002t0002g0143 a0002c0007t0002g0135 a0006c0006t0002g0145 a0006c0016t0002g0146	8	214	0.0374	48	c.-3+ others(59): Show c.-3+98_-3+99insAATATCATTTAGGGTTAGAAAACATATATAATTT GAAATTATTATTTC	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(41): Show TACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02809.hp2 others(10): Show HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02976.hp2 HG03486.hp1 HG03516.hp2 HG03942.hp1 NA18979.hp2 NA18998.hp2 NA19054.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0001 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0060 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0171 a0001c0001t0001g0329 a0001c0001t0001g0341 a0001c0001t0006g0073 a0001c0001t0014g0172	13	310	0.0419	48	c.194 others(65): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02615.hp1 HG01952.hp2 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0056 a0001c0002t0002g0057 a0001c0002t0001g0056 a0001c0002t0002g0057	2	26	0.0769	48	c.202 others(67): Show c.2029+3574_2029+3575insAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	25	0.0400	48	c.202 others(67): Show c.2029+3574_2029+3575insAAAAAAAAAAAATATATATATATATA TATATATATATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045932	A A	ATATAATA others(41): Show ATATAATATATATATTTATATATATATAATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0055 a0004c0009t0001g0055	1	50	0.0200	48	c.202 others(67): Show c.2029+5040_2029+5041insTATAATATATATATTTATATATATAT AATATATATATTATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467222	A A	ATGGTGGT others(41): Show ATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG04184.hp2 NA18992.hp1 HG02083.hp2 HG04184.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0155 a0001c0001t0003g0182 a0001c0001t0009g0196 a0001c0001t0003g0155 a0001c0001t0003g0182 a0001c0001t0009g0196	3	252	0.0119	48	c.487 others(65): Show c.487+1462_487+1509dupCCATCACCACCACCACCATTACCACCAC CATCACTACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467675	A A	ATGGTACT others(41): Show ATGGTACTGGTGGTGATGGTGATGGTGGTAGTGATGGTGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0048 a0001c0001t0020g0048	1	192	0.0052	48	c.487 others(65): Show c.487+1056_487+1057insCCACCATCACCACCATCACTACCACCAT CACCATCACCACCAGTACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467675	A A	ATGGTACT others(41): Show ATGGTACTGGTGGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	192	0.0052	48	c.487 others(65): Show c.487+1056_487+1057insCCACCACCACCACCACCACCATTACCAC CACCATCACCACCAGTACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	219	0.0046	48	c.-43 others(59): Show c.-4377_-4376insAAAATATATATATATATATATATATATATATATA TATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA19043.hp1 HG03209.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0018 a0002c0002t0003g0045 a0002c0002t0002g0018 a0002c0002t0003g0045	2	220	0.0091	48	c.-43 others(59): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(41): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0041 a0001c0001t0012g0041	1	45	0.0222	48	c.-21 others(57): Show c.-218_-217insTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03540.hp1 others(3): Show HG02257.hp1 HG02717.hp1 HG03540.hp1 NA18906.hp1 NA18946.hp2 NA18956.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0008 a0001c0001t0020 a0001c0001t0036 others(2): Show a0001c0001t0008 a0001c0001t0020 a0001c0001t0036 a0001c0002t0014 a0005c0008t0019	a0001c0001t0008g0230 a0001c0001t0020g0233 a0001c0001t0036g0097 others(3): Show a0001c0001t0008g0230 a0001c0001t0020g0233 a0001c0001t0036g0097 a0001c0002t0014g0068 a0005c0008t0019g0255 a0005c0008t0019g0295	6	114	0.0526	48	c.601 others(65): Show c.601-6495_601-6494insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDP1_chr5_71450651_71572820	71525268	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGTCTGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0026 a0026	a0026c0032 a0026c0032	a0026c0032t0001 a0026c0032t0001	a0026c0032t0001g0115 a0026c0032t0001g0115	1	324	0.0031	48	c.577 others(65): Show c.5772+951_5772+952insACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGTCTGACCCCCC	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	25/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BFSP1_chr20_17488905_17536379	17526848	G G	GTTTTTTA others(41): Show GTTTTTTATAGTTGCCATCCTAATTGGTCTGAAGTGGGTCAATGTCAGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0325 a0002c0001t0002g0325	1	394	0.0025	48	c.378 others(65): Show c.378-1988_378-1941dupACTGACATTGACCCACTTCAGACCAATT AGGATGGCAACTATAAAAAA	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	1/7			chr20	TogoVar
BFSP2_chr3_133395056_133480208	133414717	A A	ATCCCCTC others(41): Show ATCCCCTCTACTTACCCCTGCCCCCTCCACTCTACTCACCCCTGCCATC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02165.hp1 HG03471.hp1 others(6): Show HG01099.hp2 HG02165.hp1 HG03471.hp1 NA18956.hp2 NA18969.hp2 NA18973.hp1 NA19043.hp1 NA19060.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0100 others(6): Show a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0174 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0267	9	10	0.9000	48	c.489 others(67): Show c.489+14166_489+14167insCCCTCCACTCTACTCACCCCTGCCAT CTCCCCTCTACTTACCCCTGCC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133414717	A A	ATCCCCTC others(41): Show ATCCCCTCTACTTACCCCTGCCCCCTCCCCTCTACTCACCCCTGCCATC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG02559.hp1 others(17): Show HG00639.hp1 HG02109.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0006c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0002t0001g0169 a0001c0002t0001g0262 a0002c0003t0001g0145 a0006c0009t0001g0170	20	21	0.9524	48	c.489 others(67): Show c.489+14166_489+14167insCCCTCCCCTCTACTCACCCCTGCCAT CTCCCCTCTACTTACCCCTGCC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133414717	A A	ATCTCCTC others(41): Show ATCTCCTCTACTTACCCCTGCCCCCTCCCCTCTACTCACCCCTGCCATC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01169.hp1 others(21): Show HG00639.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02698.hp2 NA18947.hp2 NA18952.hp2 NA18962.hp1 NA18970.hp1 NA18990.hp1 NA19000.hp2 NA19030.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19085.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0018 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0214 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0271 a0001c0002t0001g0077 a0001c0002t0001g0090 a0001c0002t0001g0131 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0002c0003t0001g0119	24	25	0.9600	48	c.489 others(67): Show c.489+14147_489+14148insTCCTCTACTTACCCCTGCCCCCTCCC CTCTACTCACCCCTGCCATCTC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHMT_chr5_79106809_79137288	79136987	T T	TATATGAA others(41): Show TATATGAATATATATTCATATATATGAATATATATGAATATACATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	430	0.0023	48	c.58 others(59): Show c.5871_*5872insATATGAATATATATTCATATATATGAATATATAT GAATATACATATGA	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4700		chr5	TogoVar
BICD1_chr12_32101847_32388633	32142468	A A	ATCTATCT others(41): Show ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0236 a0001c0001t0043g0236	1	191	0.0052	48	c.213 others(67): Show c.213+34945_213+34946insCTATCTATCTATCTATCTATCTATCG GTCTATCTATCTATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	181	0.0055	48	c.225 others(65): Show c.2254+379_2254+380insAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(41): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01255.hp2 HG02698.hp1 HG00621.hp1 HG01255.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0007t0001g0274 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0007t0001g0274	3	130	0.0231	48	c.84+ others(63): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BMP2K_chr4_78771350_78921365	78826395	G G	GTTTCACC others(41): Show GTTTCACCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAGTGAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0160 a0002c0002t0002g0160	1	202	0.0050	48	c.297 others(63): Show c.297+241_297+288dupTTTCACCATGTTGGGCAGGCTGGTCTTGAA CTCCTGACCTCAAGTGAT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1A_chr10_86751619_86932969	86791707	C C	CCCTTCCT others(41): Show CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0059 a0001c0003t0059	a0001c0003t0059g0204 a0001c0003t0059g0204	1	176	0.0057	48	c.-26 others(69): Show c.-268+34791_-268+34792insTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCT	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(41): Show CACACACACACACACACACACACACACATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0157 a0001c0003t0020g0157	1	121	0.0083	48	c.75 others(59): Show c.7579_*7580insACACACACACACACACACACACACACATATATAT ATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(41): Show CACACACACACACACACACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03486.hp1 HG02615.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0032 a0001c0002t0010g0033 a0001c0002t0010g0032 a0001c0002t0010g0033	2	122	0.0164	48	c.75 others(59): Show c.7579_*7580insACACACACACACACACACATATATATATATATAT ATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(41): Show CACACACACACACATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0014 a0001c0002t0027g0014	1	121	0.0083	48	c.75 others(59): Show c.7579_*7580insACACACACACACATATATATATATATATATATAT ATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(41): Show CACACACACACATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0143 a0001c0002t0004g0144	2	122	0.0164	48	c.75 others(59): Show c.7579_*7580insACACACACACATATATATATATATATATATATAT ATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(41): Show CACACACACATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG03834.hp1 NA19001.hp2 HG00423.hp2 HG03834.hp1 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0066 a0001c0002t0003g0089 a0001c0002t0004g0106 a0001c0002t0003g0066 a0001c0002t0003g0089 a0001c0002t0004g0106	3	123	0.0244	48	c.75 others(59): Show c.7579_*7580insACACACACATATATATATATATATATATATATAT ATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(41): Show CACACACATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0118 a0001c0002t0017g0118	1	121	0.0083	48	c.75 others(59): Show c.7579_*7580insACACACATATATATATATATATATATATATATAT ATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR2_chr2_202371327_202572749	202535039	C C	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGGTGGCTGA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0048 a0001c0005t0001g0048	1	222	0.0045	48	c.127 others(67): Show c.1276+2328_1276+2329insGGGTCGGCTGGCCGGGCGGGTGGCTG ACCCCCCACCTCCCTCCCGGAC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18963.hp2 NA21309.hp2 HG01109.hp1 NA18963.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0006 a0001c0001 a0001c0005 a0005c0006	a0001c0001t0063 a0001c0005t0030 a0005c0006t0026 a0001c0001t0063 a0001c0005t0030 a0005c0006t0026	a0001c0001t0063g0077 a0001c0005t0030g0051 a0005c0006t0026g0047 a0001c0001t0063g0077 a0001c0005t0030g0051 a0005c0006t0026g0047	3	17	0.1765	48	c.3+9 others(61): Show c.3+9464_3+9465insATATATATATATATATATATATATATATATAT ATATATATATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BPIFB1_chr20_33278214_33314871	33295662	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0006 a0012 a0006 a0012	a0006c0007 a0012c0014 a0006c0007 a0012c0014	a0006c0007t0001 a0012c0014t0001 a0006c0007t0001 a0012c0014t0001	a0006c0007t0001g0234 a0012c0014t0001g0214 a0006c0007t0001g0234 a0012c0014t0001g0214	2	360	0.0056	48	c.598 others(65): Show c.598-1844_598-1843insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	BPIFB1	ENSG00000125999.11	transcript	ENST00000253354.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33057478	G G	GGTCTGAA others(41): Show GGTCTGAATGTTTGTCCCTCACATAGGATTCCAGAACACTGCTAAGATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(214): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0011 a0002c0002 a0002c0004 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0011t0001 a0002c0002t0001 a0002c0004t0001 a0003c0007t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0003t0001g0005 a0001c0005t0001g0021 a0001c0008t0001g0022 a0001c0011t0001g0052 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0070 a0002c0002t0001g0078 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0004t0001g0010 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0090 a0003c0007t0001g0001 a0004c0006t0001g0003	217	372	0.5833	48	c.269 others(63): Show c.269+815_269+816insCACTGCTAAGATAGTCTGAATGTTTGTCCC TCACATAGGATTCCAGAA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB3_chr20_33048903_33078847	33057490	T T	TGTCCCTC others(41): Show TGTCCCTCACATAGGATTCCAGAACACTGCTAAGATAGTCTGAATGTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp1 HG01884.hp1 others(17): Show HG01109.hp2 HG01496.hp1 HG01884.hp1 HG01993.hp2 HG02257.hp1 HG02615.hp1 HG02615.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03492.hp1 HG03669.hp1 NA18522.hp2 NA18906.hp2 NA18979.hp1 NA18988.hp1 NA19012.hp2 NA19084.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0030 others(9): Show a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0030 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050	20	372	0.0538	48	c.269 others(63): Show c.269+815_269+816insCACTGCTAAGATAGTCTGAATGTTGGTCCC TCACATAGGATTCCAGAA	BPIFB3	ENSG00000186190.8	transcript	ENST00000375494.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar

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