Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BANK1_chr4_101785730_102079812	102007092	A A	ATATATTT others(23): Show ATATATTTATATATATATATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG01243.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0170 a0001c0002t0003g0169 a0001c0002t0001g0170 a0001c0002t0003g0169	2	284	0.0070	30	c.120 others(51): Show c.1207-14422_1207-14421insTATATTTATATATATATATATATA TTATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16			chr4	TogoVar
BANK1_chr4_101785730_102079812	102007146	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA20300.hp2 HG02165.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0154 a0003c0004t0001g0060 a0001c0001t0001g0154 a0003c0004t0001g0060	2	284	0.0070	30	c.120 others(51): Show c.1207-14344_1207-14343insTATATATATATATATATATATATA TATATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	102007156	A A	ATATATAT others(23): Show ATATATATATATATATATATATAATATATTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp1 HG02886.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0001 a0003c0004t0003	a0003c0004t0001g0145 a0003c0004t0003g0252 a0003c0004t0001g0145 a0003c0004t0003g0252	2	284	0.0070	30	c.120 others(51): Show c.1207-14344_1207-14343insTATATATAATATATTTTATATATA TATATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(23): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG01516.hp1 others(4): Show HG00738.hp1 HG01433.hp1 HG01516.hp1 HG02055.hp2 HG02559.hp1 NA18961.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0022 a0001c0001t0025	a0001c0001t0004g0342 a0001c0001t0005g0019 a0001c0001t0005g0324 others(4): Show a0001c0001t0004g0342 a0001c0001t0005g0019 a0001c0001t0005g0324 a0001c0001t0011g0315 a0001c0001t0011g0337 a0001c0001t0022g0328 a0001c0001t0025g0340	7	370	0.0189	30	c.-74 others(39): Show c.-749_-748insGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		559		chr5	TogoVar
BATF_chr14_75517469_75551992	75536722	T T	TTAAAATA others(23): Show TTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	376	0.0027	30	c.169 others(47): Show c.169-9730_169-9701dupATAAAATAAAATAAAATAAAATAAAATA AA	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BATF_chr14_75517469_75551992	75547205	C C	CCTCCTCC others(23): Show CCTCCTCCTTCTCCTCCTTCTCCTTCTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02717.hp1 others(9): Show HG02258.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0121 a0001c0001t0001g0122 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0270	12	376	0.0319	30	c.53 others(39): Show c.534_*535insCTCCTCCTTCTCCTCCTTCTCCTTCTCCTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		214		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832209	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02015.hp1 HG01346.hp2 HG02015.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0008 a0001c0003 a0005c0008	a0001c0003t0005 a0005c0008t0003 a0001c0003t0005 a0005c0008t0003	a0001c0003t0005g0371 a0005c0008t0003g0178 a0001c0003t0005g0371 a0005c0008t0003g0178	2	380	0.0053	30	c.393 others(47): Show c.393-6054_393-6053insATATATATATATATATATATATATATAT AT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832211	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18951.hp1 NA18992.hp2 HG01884.hp1 NA18951.hp1 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0140 a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0140 a0001c0002t0003g0153 a0001c0002t0003g0160	3	380	0.0079	30	c.393 others(47): Show c.393-6056_393-6055insATATATATATATATATATATATATATAT AT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(23): Show CACACACACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03834.hp2 NA19087.hp1 HG02683.hp1 HG03834.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0139 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0139	3	380	0.0079	30	c.393 others(47): Show c.393-6060_393-6059insATATATATGTGTGTGTGTGTGTGTGTGT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(23): Show CACACACACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03239.hp2 HG03490.hp2 others(12): Show HG00609.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 NA18956.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp2 NA18982.hp1 NA19010.hp2 NA19056.hp1 NA19066.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0068 others(12): Show a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0114 a0001c0002t0002g0128 a0001c0002t0002g0130	15	380	0.0395	30	c.393 others(47): Show c.393-6060_393-6059insATATATATATGTGTGTGTGTGTGTGTGT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(23): Show CACACACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	380	0.0026	30	c.393 others(47): Show c.393-6060_393-6059insATATATATATATGTGTGTGTGTGTGTGT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(23): Show CACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	380	0.0026	30	c.393 others(47): Show c.393-6060_393-6059insATATATATATATATGTGTGTGTGTGTGT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(23): Show CACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp2 HG00735.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0012t0004 a0001c0002t0002 a0001c0012t0004	a0001c0002t0002g0138 a0001c0012t0004g0191 a0001c0002t0002g0138 a0001c0012t0004g0191	2	380	0.0053	30	c.393 others(47): Show c.393-6060_393-6059insATATATATATATATATATGTGTGTGTGT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(23): Show CACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0031 a0001c0004t0004g0031	1	380	0.0026	30	c.393 others(47): Show c.393-6060_393-6059insATATATATATATATATATATGTGTGTGT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01981.hp1 HG00140.hp1 HG01981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0353 a0001c0004t0004g0379 a0001c0004t0004g0353 a0001c0004t0004g0379	2	380	0.0053	30	c.393 others(47): Show c.393-6060_393-6059insATATATATATATATATATATATATGTGT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA20300.hp1 HG01123.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0340 a0001c0004t0004g0343 a0001c0004t0004g0340 a0001c0004t0004g0343	2	380	0.0053	30	c.393 others(47): Show c.393-6060_393-6059insATATATATATATATATATATATATATGT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0057 a0002c0006t0002g0057	1	380	0.0026	30	c.393 others(47): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT GT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73526868	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	200	0.0050	30	c.-49 others(41): Show c.-4936_-4935insATATATATATATATATATATATATATTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4576		chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0073	a0001c0002t0073g0103 a0001c0002t0073g0103	1	316	0.0032	30	c.95 others(39): Show c.951_*980dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(23): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	398	0.0025	30	c.44 others(41): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	398	0.0025	30	c.77- others(45): Show c.77-6875_77-6874insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 HG02055.hp2 others(3): Show HG00140.hp1 HG01175.hp2 HG02055.hp2 HG03139.hp1 HG03579.hp2 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0003c0003t0033	a0001c0001t0002g0177 a0001c0001t0002g0199 a0001c0001t0002g0200 others(3): Show a0001c0001t0002g0177 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0005g0144 a0001c0001t0021g0215 a0003c0003t0033g0005	6	222	0.0270	30	c.220 others(47): Show c.2203+502_2203+503insTATATATATATATATATATATATATATA TA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01978.hp1 HG02572.hp2 others(5): Show HG00639.hp2 HG01978.hp1 HG02572.hp2 HG02615.hp1 HG03831.hp1 NA18962.hp2 NA18971.hp2 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0040 a0006c0010t0001	a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0140 others(5): Show a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0140 a0001c0001t0007g0137 a0001c0001t0013g0133 a0001c0001t0014g0030 a0001c0001t0040g0081 a0006c0010t0001g0159	8	222	0.0360	30	c.235 others(49): Show c.2354-1159_2354-1158insTATATATATATATATATATATATATA TATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	398	0.0025	30	c.194 others(47): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC AC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(70): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00673.hp1 HG01070.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG03130.hp2 HG03486.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19057.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19089.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0004g0002 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0183 a0001c0001t0010g0131 a0001c0001t0010g0167	73	398	0.1834	30	c.194 others(47): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC CC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54005303	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(47): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02559.hp1 HG02698.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG04228.hp2 NA18906.hp2 NA18946.hp1 NA18952.hp1 NA18955.hp1 NA18968.hp2 NA18971.hp1 NA18997.hp1 NA19002.hp1 NA19002.hp2 NA19062.hp2 NA19066.hp2 NA19068.hp2 NA19077.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(8): Show a0001 a0002 a0005 a0006 a0007 a0008 a0014 a0016 a0024 a0030 a0037	a0001c0001 a0001c0007 a0001c0017 others(11): Show a0001c0001 a0001c0007 a0001c0017 a0002c0002 a0005c0005 a0005c0018 a0006c0006 a0007c0008 a0008c0010 a0014c0014 a0016c0019 a0024c0033 a0030c0046 a0037c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0030 a0001c0001t0031 a0001c0001t0049 a0001c0007t0014 a0001c0007t0050 a0001c0017t0012 a0001c0017t0016 a0001c0017t0043 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0021 a0002c0002t0024 a0002c0002t0064 a0005c0005t0006 a0005c0018t0001 a0006c0006t0012 a0006c0006t0018 a0006c0006t0025 a0006c0006t0066 a0007c0008t0002 a0008c0010t0002 a0008c0010t0017 a0014c0014t0003 a0016c0019t0033 a0024c0033t0003 a0030c0046t0001 a0037c0047t0002	a0001c0001t0001g0223 a0001c0001t0002g0153 a0001c0001t0002g0169 others(47): Show a0001c0001t0001g0223 a0001c0001t0002g0153 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0003g0165 a0001c0001t0004g0317 a0001c0001t0030g0249 a0001c0001t0030g0250 a0001c0001t0031g0168 a0001c0001t0031g0251 a0001c0001t0031g0255 a0001c0001t0049g0338 a0001c0007t0014g0328 a0001c0007t0014g0329 a0001c0007t0050g0321 a0001c0017t0012g0207 a0001c0017t0016g0234 a0001c0017t0043g0068 a0002c0002t0001g0211 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0006g0266 a0002c0002t0021g0303 a0002c0002t0024g0132 a0002c0002t0064g0139 a0005c0005t0006g0277 a0005c0018t0001g0085 a0006c0006t0012g0178 a0006c0006t0018g0143 a0006c0006t0018g0301 a0006c0006t0018g0302 a0006c0006t0018g0320 a0006c0006t0025g0173 a0006c0006t0025g0176 a0006c0006t0066g0172 a0007c0008t0002g0078 a0008c0010t0002g0243 a0008c0010t0017g0240 a0008c0010t0017g0241 a0008c0010t0017g0242 a0008c0010t0017g0260 a0014c0014t0003g0354 a0016c0019t0033g0083 a0024c0033t0003g0177 a0030c0046t0001g0286 a0037c0047t0002g0119	50	364	0.1374	30	c.724 others(47): Show c.724-9283_724-9254dupGTTTTGTTTTGTTTTGTTTTGTTTTGTT TT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54026709	G G	GTAAACGG others(23): Show GTAAACGGTTTCTCCACTCAGGCGCAAGTAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0063 a0002c0002t0002 a0002c0002t0063	a0002c0002t0002g0002 a0002c0002t0063g0129 a0002c0002t0002g0002 a0002c0002t0063g0129	3	364	0.0082	30	c.723 others(47): Show c.723+1682_723+1683insTTACTTGCGCCTGAGTGGAGAAACCGTT TA	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20805.hp2 HG01496.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0223 a0001c0001t0002g0222 a0001c0001t0001g0223 a0001c0001t0002g0222	2	364	0.0055	30	c.143 others(49): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60973585	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0027 a0002c0006t0002g0027	1	74	0.0135	30	c.122 others(51): Show c.1222-16386_1222-16385insTATATATATATATATATATATATA TATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61191780	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03540.hp2 HG02897.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0002 a0002c0003t0002 a0001c0004t0002 a0002c0003t0002	a0001c0004t0002g0072 a0002c0003t0002g0048 a0001c0004t0002g0072 a0002c0003t0002g0048	2	74	0.0270	30	c.242 others(53): Show c.2425+107245_2425+107246insGAAAAGAAAAGAAAAGAAAAGA AAAGAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	74	0.0135	30	c.259 others(49): Show c.2593+6761_2593+6762insGTGCGCGCGCGCGCGCGCACATGTGT GTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(23): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01106.hp2 others(14): Show HG00735.hp2 HG01069.hp1 HG01106.hp2 HG01192.hp1 HG01993.hp1 HG02572.hp1 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03453.hp2 HG03942.hp1 NA19030.hp1 NA19085.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(13): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0054 a0001c0001t0078 a0001c0001t0080 a0001c0001t0102 a0001c0001t0110 a0001c0001t0119 a0001c0001t0123 a0005c0006t0127	a0001c0001t0003g0240 a0001c0001t0007g0230 a0001c0001t0009g0056 others(14): Show a0001c0001t0003g0240 a0001c0001t0007g0230 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0011g0271 a0001c0001t0012g0055 a0001c0001t0013g0053 a0001c0001t0016g0054 a0001c0001t0021g0193 a0001c0001t0054g0174 a0001c0001t0078g0083 a0001c0001t0080g0050 a0001c0001t0102g0059 a0001c0001t0110g0041 a0001c0001t0119g0229 a0001c0001t0123g0051 a0005c0006t0127g0173	17	322	0.0528	30	c.6+1 others(45): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCAT2_chr19_48790064_48816029	48806000	G G	GCCATCCC others(23): Show GCCATCCCTCCCCTGACTGTCCCCTCTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00639.hp1 others(107): Show HG00099.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG06807.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(58): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0245	110	408	0.2696	30	c.300 others(45): Show c.300+516_300+517insTGGGAGAGGGGACAGTCAGGGGAGGGATGG	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding	3/10			chr19	TogoVar
BCHE_chr3_165767904_165842423	165791948	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0226	1	304	0.0033	30	c.151 others(49): Show c.1518-5667_1518-5638dupATTTTATTTTATTTTATTTTATTTTA TTTT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCKDK_chr16_31103386_31117791	31103583	C C	CTCTCCGT others(23): Show CTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	300	0.0033	30	c.-50 others(41): Show c.-5074_-5073insTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4802		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31103589	C C	CTCTCCGT others(23): Show CTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	300	0.0033	30	c.-50 others(41): Show c.-5068_-5067insTCTCCGTCTCCGTCTCCGTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4796		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467689	G G	GATGGTGA others(23): Show GATGGTGATGGTGGTGGTGGTGGTGATGCTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0253 a0001c0001t0013g0253	1	262	0.0038	30	c.487 others(47): Show c.487+1042_487+1043insTAGCATCACCACCACCACCACCATCACC AT	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507316	G G	GGGGAAGG others(23): Show GGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03834.hp1 HG02145.hp2 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0023 a0001c0002t0004g0077 a0001c0002t0001g0023 a0001c0002t0004g0077	2	262	0.0076	30	c.386 others(49): Show c.386-38513_386-38484dupTTCCCTTCCCTTCCCTTCCCTTCCCT TCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02602.hp2 HG00099.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0069 a0002c0002t0002g0017 a0002c0002t0002g0069	2	458	0.0044	30	c.-43 others(41): Show c.-4377_-4376insAATATATATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	458	0.0022	30	c.-43 others(41): Show c.-4377_-4376insAAAAAAAAAATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(23): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0237 a0001c0001t0059g0237	1	398	0.0025	30	c.-21 others(39): Show c.-218_-217insTGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L14_chr12_12065939_12104695	12076099	A A	AGGGGAGG others(23): Show AGGGGAGGGTGGGATGCCCGGAAAATGCATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00741.hp2 others(9): Show HG00099.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01192.hp1 HG01358.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG03669.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0025 a0001c0001t0001g0205 a0001c0001t0001g0282 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0205 a0001c0001t0001g0282 a0001c0002t0002g0203 a0001c0002t0002g0281 a0001c0003t0001g0064 a0001c0003t0001g0372 a0001c0003t0001g0375 a0001c0003t0001g0376 a0001c0003t0001g0377 a0002c0004t0001g0204	12	454	0.0264	30	c.-7- others(45): Show c.-7-3095_-7-3066dupGCCCGGAAAATGCATGGGGGAGGGTGGGAT	BCL2L14	ENSG00000121380.12	transcript	ENST00000308721.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL2L1_chr20_31659458_31727868	31667484	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	186	0.0054	30	c.565 others(47): Show c.565-1428_565-1399dupACACACACACACACACACACACACACAC AC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31691520	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 NA19043.hp2 HG01109.hp1 HG02896.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159	3	186	0.0161	30	c.565 others(49): Show c.565-25464_565-25435dupATTTTATTTTATTTTATTTTATTTTA TTTT	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCO1_chr16_81233689_81296142	81235171	T T	TATATATA others(23): Show TATATATATATATATATATATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	402	0.0025	30	c.-37 others(41): Show c.-3738_-3737insATATATATATATATATATATATATAAAAAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3517		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235210	A A	ATATATAT others(23): Show ATATATATATAAATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA20805.hp2 HG02486.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0001 a0002c0004t0001 a0001c0005t0001 a0002c0004t0001	a0001c0005t0001g0151 a0002c0004t0001g0128 a0001c0005t0001g0151 a0002c0004t0001g0128	2	402	0.0050	30	c.-36 others(41): Show c.-3699_-3698insTATATATATAAATAAATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3478		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235212	A A	ATGTATAT others(23): Show ATGTATATATATATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0160 a0001c0001t0001g0161	2	402	0.0050	30	c.-36 others(41): Show c.-3697_-3696insTGTATATATATATAAATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3476		chr16	TogoVar
BCORL1_chrX_129977635_130063071	130043746	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	203	0.0049	30	c.484 others(49): Show c.4840+4474_4840+4503dupATATATATATATATATATATATATAT ATAT	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BCOR_chrX_40046251_40102958	40046526	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18961.hp1 NA18964.hp1 NA18956.hp2 NA18961.hp1 NA18964.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0015 a0001c0001 a0001c0002 a0008c0015	a0001c0001t0001 a0001c0002t0001 a0008c0015t0001 a0001c0001t0001 a0001c0002t0001 a0008c0015t0001	a0001c0001t0001g0089 a0001c0002t0001g0088 a0008c0015t0001g0161 a0001c0001t0001g0089 a0001c0002t0001g0088 a0008c0015t0001g0161	3	257	0.0117	30	c.55 others(41): Show c.5582_*5583insCATATATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4724		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046548	A A	ATATATGT others(23): Show ATATATGTGTATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	257	0.0039	30	c.55 others(41): Show c.5560_*5561insCATATATATATATATATATATACACATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4702		chrX	TogoVar

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