Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
BAG3_chr10_119646380_119682819	119675797	TCCCCTTC others(20): Show TCCCCTTCCCCCCTTCCCTGCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0304 a0001c0002t0001g0183 a0001c0002t0001g0304	2	417	0.0048	-27	c.910 others(42): Show c.910-655_910-629delCTTCCCTGCTTCCTTCCCCCTTCCCCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG4_chr8_38171855_38218301	38201864	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20129.hp1 HG01243.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0082 a0001c0001t0002g0083	2	304	0.0066	-27	c.379 others(44): Show c.379-5646_379-5620delATATATATATATATATTTTTTTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHD1_chr15_40435953_40473236	40441862	AGGGCCGC others(20): Show AGGGCCGCGCCGGGCCGGGGGCGGCAGG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0227 a0001c0001t0005g0227	1	370	0.0027	-27	c.-15 others(42): Show c.-15+598_-15+624delCCGCGCCGGGCCGGGGGCGGCAGGGGG	BAHD1	ENSG00000140320.12	transcript	ENST00000416165.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
BAIAP2_chr17_81030151_81122434	81119632	CGGCCCCG others(20): Show CGGCCCCGCTCCCACAGTCACGGGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01168.hp1 HG01261.hp2 others(7): Show HG00735.hp1 HG01168.hp1 HG01261.hp2 HG01515.hp2 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG03669.hp2 HG04204.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0005 a0001c0006t0010 a0001c0008t0017	a0001c0001t0004g0116 a0001c0001t0005g0107 a0001c0001t0005g0299 others(7): Show a0001c0001t0004g0116 a0001c0001t0005g0107 a0001c0001t0005g0299 a0001c0001t0006g0300 a0001c0003t0005g0007 a0001c0003t0005g0374 a0001c0006t0010g0015 a0001c0006t0010g0352 a0001c0008t0017g0368 a0001c0008t0017g0369	10	373	0.0268	-27	c.37 others(38): Show c.3794_*3820delGGCCCCGCTCCCACAGTCACGGGCCCA	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		2199		chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1345533	TCCCCAGC others(20): Show TCCCCAGCAACCCCAGCCTCCCCAGCAA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	355	0.0028	-27	c.206 others(44): Show c.2064+169_2065-180delAACCCCAGCCTCCCCAGCAACCCCAGC	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	22/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	29	0.0345	-27	c.469 others(44): Show c.469+9754_469+9780delTTTTTTTTTTTTTTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BAZ2A_chr12_56590596_56635326	56597573	CACACACA others(20): Show CACACACACAGCGCGCGCTCTGAGGCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02895.hp2 HG02145.hp2 HG02647.hp2 HG02895.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0015 a0001c0003 a0010c0015	a0001c0003t0009 a0010c0015t0009 a0001c0003t0009 a0010c0015t0009	a0001c0003t0009g0198 a0001c0003t0009g0206 a0010c0015t0009g0201 a0001c0003t0009g0198 a0001c0003t0009g0206 a0010c0015t0009g0201	3	314	0.0096	-27	c.10 others(38): Show c.1018_*1044delCAGCCTCAGAGCGCGCGCTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1018		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597610	CACACACA others(20): Show CACACACACACAGCGCGCTCTGAGGCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02630.hp2 others(3): Show HG02280.hp1 HG02572.hp1 HG02630.hp2 HG03453.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0007 a0001c0003t0002 a0001c0003t0007	a0001c0003t0002g0025 a0001c0003t0002g0183 a0001c0003t0007g0027 others(2): Show a0001c0003t0002g0025 a0001c0003t0002g0183 a0001c0003t0007g0027 a0001c0003t0007g0193 a0001c0003t0007g0203	6	314	0.0191	-27	c.98 others(37): Show c.981_*1007delCGGCCTCAGAGCGCGCTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	981		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159366951	AGCTAAAT others(20): Show AGCTAAATGGGCATGGGGGCTCTCTTCC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0149 a0006c0006t0002g0149	1	214	0.0047	-27	c.421 others(46): Show c.4213+6067_4213+6093delGGAAGAGAGCCCCCATGCCCATTTAG C	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	27/36			chr2	TogoVar
BBS9_chr7_33124564_33611069	33482871	GTGAATGG others(20): Show GTGAATGGGAATCATTTTCCATTTACTA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	266	0.0038	-27	c.211 others(48): Show c.2116-22554_2116-22528delTCATTTTCCATTTACTATGAATGG GAA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAN_chr1_156637117_156664528	156654894	GGAAAAGC others(20): Show GGAAAAGCTGATTCATTTCACCCAAAAC	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	418	0.0024	-27	c.194 others(46): Show c.1943-1387_1943-1361delGAAAAGCTGATTCATTTCACCCAAAA C	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	8/13			chr1	TogoVar
BCAS3_chr17_60672851_61397831	61046057	TTATATAT others(20): Show TTATATATATATAATATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0005 a0003c0001t0001g0005	1	67	0.0149	-27	c.202 others(46): Show c.2029+5190_2029+5216delTTATATATATATATAATATATATATA T	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCKDHB_chr6_80101671_80351270	80236153	GACTGTGA others(20): Show GACTGTGAATTATTGCCTCTTCTCTTTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0151 a0001c0001t0010g0151	1	292	0.0034	-27	c.951 others(46): Show c.951+32945_951+32971delGTGAATTATTGCCTCTTCTCTTTAAC T	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCL2L13_chr22_17633757_17735855	17715141	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02135.hp1 HG03486.hp2 others(4): Show HG00438.hp1 HG02135.hp1 HG03486.hp2 NA18998.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0001c0001t0004g0102 a0001c0001t0004g0132 a0001c0001t0004g0163 others(4): Show a0001c0001t0004g0102 a0001c0001t0004g0132 a0001c0001t0004g0163 a0001c0001t0004g0196 a0001c0001t0004g0246 a0001c0001t0005g0062 a0001c0001t0011g0142	7	301	0.0233	-27	c.601 others(46): Show c.601-11535_601-11509delATATATATATATATATATATATATAT A	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6			chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715143	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01358.hp1 others(3): Show HG01256.hp1 HG01258.hp1 HG01358.hp1 HG02155.hp1 HG03942.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0004 a0001c0001t0004 a0001c0009t0004	a0001c0001t0004g0101 a0001c0001t0004g0148 a0001c0001t0004g0150 others(3): Show a0001c0001t0004g0101 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0004g0175 a0001c0009t0004g0155 a0001c0009t0004g0156	6	302	0.0199	-27	c.601 others(46): Show c.601-11533_601-11507delATATATATATATATATATATATATAT A	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6			chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715144	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG02132.hp1 others(6): Show HG00609.hp2 HG00738.hp2 HG02132.hp1 HG02615.hp1 HG03516.hp2 NA18957.hp1 NA18957.hp2 NA18967.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0001c0001t0029 a0001c0001t0059	a0001c0001t0002g0160 a0001c0001t0004g0137 a0001c0001t0005g0143 others(6): Show a0001c0001t0002g0160 a0001c0001t0004g0137 a0001c0001t0005g0143 a0001c0001t0005g0187 a0001c0001t0005g0241 a0001c0001t0011g0116 a0001c0001t0021g0024 a0001c0001t0029g0168 a0001c0001t0059g0149	9	291	0.0309	-27	c.601 others(46): Show c.601-11531_601-11505delATATATATATATATATATATATATAT T	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715146	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG01081.hp1 others(22): Show HG00099.hp1 HG00544.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG02004.hp1 HG02148.hp1 HG03098.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG04184.hp2 NA18963.hp1 NA18984.hp1 NA19057.hp1 NA19082.hp1 NA19091.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0048 a0001c0001t0053 a0001c0001t0066 a0003c0005t0006	a0001c0001t0002g0004 a0001c0001t0002g0100 a0001c0001t0002g0117 others(21): Show a0001c0001t0002g0004 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0005g0141 a0001c0001t0007g0017 a0001c0001t0007g0122 a0001c0001t0018g0195 a0001c0001t0018g0215 a0001c0001t0048g0126 a0001c0001t0053g0125 a0001c0001t0066g0189 a0003c0005t0006g0089	25	283	0.0883	-27	c.601 others(46): Show c.601-11529_601-11503delATATATATATATATATATATATATTT T	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715148	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG02818.hp1 others(4): Show HG00280.hp1 HG00639.hp1 HG02818.hp1 HG03942.hp1 NA18906.hp1 NA18953.hp1 NA18968.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0005c0008t0019 a0001c0001t0002 a0005c0008t0019	a0001c0001t0002g0130 a0001c0001t0002g0147 a0001c0001t0002g0174 others(4): Show a0001c0001t0002g0130 a0001c0001t0002g0147 a0001c0001t0002g0174 a0001c0001t0002g0202 a0001c0001t0002g0218 a0001c0001t0002g0245 a0005c0008t0019g0255	7	282	0.0248	-27	c.601 others(46): Show c.601-11527_601-11501delATATATATATATATATATATATTTTT T	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715150	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG04228.hp2 HG03041.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0136 a0001c0001t0008g0223 a0001c0001t0002g0136 a0001c0001t0008g0223	2	256	0.0078	-27	c.601 others(46): Show c.601-11525_601-11499delATATATATATATATATATATTTTTTT T	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715152	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA20752.hp2 HG00735.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0128 a0001c0001t0033g0127 a0001c0001t0002g0128 a0001c0001t0033g0127	2	287	0.0070	-27	c.601 others(46): Show c.601-11523_601-11497delATATATATATATATATATTTTTTTTT T	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31683769	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(70): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0176 a0001c0001t0004g0041 a0001c0001t0004g0042	73	78	0.9359	-27	c.565 others(46): Show c.565-17710_565-17684delTTTTTTTTTTTTTTTTTTTTTTTTTT T	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCORL1_chrX_129977635_130063071	130043758	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0145 a0002c0004t0001g0145	1	197	0.0051	-27	c.484 others(46): Show c.4840+4478_4840+4504delATATATATATATATATATATATATAT T	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BDH1_chr3_197504783_197560968	197510657	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 NA20129.hp2 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0072 a0001c0001t0030 a0001c0001t0072	a0001c0001t0030g0034 a0001c0001t0072g0267 a0001c0001t0030g0034 a0001c0001t0072g0267	2	318	0.0063	-27	c.12 others(38): Show c.1211_*1237delCTTACACACATGTACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BEST4_chr1_44778585_44793170	44788088	AACTACCA others(20): Show AACTACCAGGGCCCAGGGCACTCTCACC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0035 a0002c0002t0012g0035	1	388	0.0026	-27	c.-41 others(36): Show c.-410_-384delGGTGAGAGTGCCCTGGGCCCTGGTAGT	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding	1/9	384		chr1	TogoVar
BEX5_chrX_102148712_102160977	102158132	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTCTTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA19240.hp2 HG02622.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0008 a0001c0001t0001g0003 a0001c0001t0002g0008	2	318	0.0063	-27	c.-24 others(38): Show c.-2405_-2379delTAATAAGAAGAAGAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2156		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158135	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03041.hp2 HG03516.hp1 HG02809.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	316	0.0095	-27	c.-24 others(38): Show c.-2408_-2382delTAATAATAAGAAGAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2159		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158138	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03041.hp1 HG02145.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0008 a0001c0001t0001g0003 a0001c0001t0002g0008	2	313	0.0064	-27	c.-24 others(38): Show c.-2411_-2385delTAATAATAATAAGAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2162		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158141	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03453.hp1 HG02970.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0008 a0001c0001t0001g0002 a0001c0001t0002g0008	2	302	0.0066	-27	c.-24 others(38): Show c.-2414_-2388delTAATAATAATAATAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2165		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158144	CTTCTTCT others(20): Show CTTCTTCTTCTTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02723.hp1 others(2): Show HG02280.hp1 HG02486.hp1 HG02723.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0008	5	291	0.0172	-27	c.-24 others(38): Show c.-2417_-2391delTAATAATAATAATAATAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2168		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158147	CTTCTTCT others(20): Show CTTCTTCTTATTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	295	0.0034	-27	c.-24 others(38): Show c.-2420_-2394delTAATAATAATAATAATAATAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2171		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158150	CTTCTTAT others(20): Show CTTCTTATTATTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	285	0.0035	-27	c.-24 others(38): Show c.-2423_-2397delTAATAATAATAATAATAATAATAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2174		chrX	TogoVar
BICD1_chr12_32101847_32388633	32252088	ATATATAT others(20): Show ATATATATTTATAATAAATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	288	0.0035	-27	c.426 others(46): Show c.426+35665_426+35691delTATAATAAATATTATATATTATATAT T	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02683.hp2 others(3): Show HG02451.hp2 HG02615.hp1 HG02683.hp2 HG02886.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0002t0003	a0001c0001t0001g0140 a0001c0001t0003g0095 a0001c0001t0003g0238 others(3): Show a0001c0001t0001g0140 a0001c0001t0003g0095 a0001c0001t0003g0238 a0001c0001t0004g0252 a0001c0001t0019g0011 a0001c0002t0003g0013	6	12	0.5000	-27	c.184 others(46): Show c.1840-6870_1840-6844delTTTTTTTTTTTTTTTTTTTTTTTTTT T	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47624226	TCTCCTAC others(20): Show TCTCCTACCCTTTTCATCTTGCCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0041 a0004c0011t0002g0216 a0004c0011t0002g0041 a0004c0011t0002g0216	2	310	0.0065	-27	c.-10 others(48): Show c.-108+15062_-108+15088delCTACCCTTTTCATCTTGCCTTTCA CTC	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN2_chr12_51276038_51329174	51295576	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG01891.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0006 a0001c0019t0001 a0001c0001t0006 a0001c0019t0001	a0001c0001t0006g0260 a0001c0019t0001g0254 a0001c0001t0006g0260 a0001c0019t0001g0254	2	390	0.0051	-27	c.761 others(42): Show c.761+193_761+219delATATATATATATATATATATATATATT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02451.hp2 NA18948.hp1 others(4): Show HG00621.hp2 HG02451.hp2 NA18948.hp1 NA18957.hp2 NA18963.hp1 NA18973.hp2 NA18980.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0028 a0001c0004t0001g0030 a0001c0004t0001g0270 others(2): Show a0001c0004t0001g0028 a0001c0004t0001g0030 a0001c0004t0001g0270 a0001c0004t0001g0298 a0003c0003t0001g0297	7	270	0.0259	-27	c.761 others(42): Show c.761+191_761+217delATATATATATATATATATATATATATA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIRC2_chr11_102342214_102383670	102342360	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	339	0.0029	-27	c.-62 others(38): Show c.-6273_-6247delTATATATATATATATATATATATATAT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4853		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342360	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	379	0.0026	-27	c.52 others(38): Show c.5259_*5285delTATATATATATATATATATATATATAT	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2958		chr11	TogoVar
BLOC1S2_chr10_100268293_100291680	100277061	CGCCTCCT others(20): Show CGCCTCCTCCCGGCCGCCATCCCATCTA	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	376	0.0027	-27	c.398 others(44): Show c.398-1595_398-1569delTAGATGGGATGGCGGCCGGGAGGAGGC	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790189	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0070 a0002c0001t0070	a0002c0001t0070g0228 a0002c0001t0070g0228	1	206	0.0049	-27	c.-26 others(48): Show c.-268+33271_-268+33297delTATATATATATATATATATATATA TAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12			chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0021 a0002c0001t0002g0021	1	14	0.0714	-27	c.-26 others(46): Show c.-267-3303_-267-3277delAAAAAAAAAAAAAAAAAAAAAAAAAA A	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR2_chr2_202371327_202572749	202456063	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0016 a0001c0001t0049g0016	1	9	0.1111	-27	c.77- others(42): Show c.77-8733_77-8707delAAAAAAAAAAAAAAAAAAAAAAAAAAA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMS1_chr10_42777795_42839937	42779045	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0221 a0002c0001t0001g0221	1	225	0.0044	-27	c.-38 others(38): Show c.-3818_-3792delAAAAAAAAAAAAAAAAAAAAAAAAAAA	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding		3749		chr10	TogoVar
BNIP1_chr5_173139531_173169387	173148082	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-27	c.177 others(44): Show c.177+1126_177+1152delATATATATATATATATATATATATATA	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP5_chr6_36310761_36341888	36324571	GATATTAT others(20): Show GATATTATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18967.hp1 HG01258.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0179 a0002c0002t0001g0144 a0002c0002t0001g0179	2	394	0.0051	-27	c.116 others(44): Show c.1169-408_1169-382delATATATATATATATATATATATAATAT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BPIFC_chr22_32408845_32469446	32424729	CTCTTCTT others(20): Show CTCTTCTTCTTCCTCTTCTTCTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0412 a0001c0001t0001g0412	1	381	0.0026	-27	c.121 others(46): Show c.1218-5352_1218-5326delAGAGGAAGAAGAAGAGGAAGAAGAAG A	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPTF_chr17_67820503_67989378	67879022	ATGTCAGT others(20): Show ATGTCAGTCTTTAGTATCAGGAATATTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(124): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01169.hp1 HG01256.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0008 a0009 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0005 others(12): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0002c0002 a0002c0027 a0003c0004 a0003c0029 a0003c0030 a0007c0011 a0008c0028 a0009c0023 a0012c0012 a0013c0022 a0014c0018	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 others(14): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0005 a0001c0009t0003 a0002c0002t0002 a0002c0002t0007 a0002c0027t0002 a0003c0004t0004 a0003c0029t0010 a0003c0030t0008 a0007c0011t0002 a0008c0028t0009 a0009c0023t0005 a0012c0012t0002 a0013c0022t0002 a0014c0018t0002	a0001c0001t0001g0259 a0001c0003t0002g0088 a0001c0003t0002g0089 others(123): Show a0001c0001t0001g0259 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0097 a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0264 a0001c0005t0005g0265 a0001c0005t0005g0266 a0001c0005t0005g0267 a0001c0005t0005g0268 a0001c0005t0005g0269 a0001c0009t0003g0083 a0001c0009t0003g0084 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0007g0249 a0002c0027t0002g0197 a0003c0004t0004g0001 a0003c0004t0004g0166 a0003c0004t0004g0167 a0003c0004t0004g0168 a0003c0004t0004g0169 a0003c0004t0004g0170 a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0029t0010g0099 a0003c0030t0008g0098 a0007c0011t0002g0179 a0008c0028t0009g0002 a0009c0023t0005g0263 a0012c0012t0002g0238 a0013c0022t0002g0188 a0014c0018t0002g0208	127	272	0.4669	-27	c.186 others(46): Show c.1864+4032_1864+4058delTCAGTCTTTAGTATCAGGAATATTTT G	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAF_chr7_140714337_140929929	140771716	ATTGTCTA others(20): Show ATTGTCTAGCTATAGACTATATCTGGCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG03942.hp2 others(8): Show HG00408.hp1 HG00558.hp1 HG03942.hp2 HG04115.hp1 NA18956.hp2 NA18959.hp1 NA18968.hp2 NA19001.hp1 NA19007.hp2 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0032 a0001c0001t0004 a0001c0001t0031 a0001c0001t0032	a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0164 others(8): Show a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0031g0181 a0001c0001t0032g0180	11	188	0.0585	-27	c.181 others(46): Show c.1814+5169_1814+5195delAGCCAGATATAGTCTATAGCTAGACA A	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	14/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140771716	ATTGTCTA others(20): Show ATTGTCTAGCTATAGACTATATCTGGCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG03942.hp1 others(8): Show HG00408.hp1 HG00558.hp1 HG03942.hp1 HG04115.hp2 NA18956.hp2 NA18959.hp2 NA18968.hp2 NA19001.hp1 NA19007.hp1 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0034 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0034 a0001c0001t0043 a0001c0001t0058 a0001c0001t0059	a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 others(8): Show a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0009g0166 a0001c0001t0009g0173 a0001c0001t0009g0174 a0001c0001t0034g0169 a0001c0001t0043g0164 a0001c0001t0058g0185 a0001c0001t0059g0186	11	194	0.0567	-27	c.169 others(46): Show c.1694+5169_1694+5195delAGCCAGATATAGTCTATAGCTAGACA A	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	13/17			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43124239	CAAAGAAC others(20): Show CAAAGAACTAATGACAACGTCCTTTATT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0165 a0003c0003t0002g0165	1	274	0.0036	-27	c.-19 others(42): Show c.-19-151_-19-125delAATAAAGGACGTTGTCATTAGTTCTTT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	1/22			chr17	TogoVar

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