Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BRWD3_chrX_80664503_80814877	80793160	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0108 a0001c0001t0018g0108	1	265	0.0038	-15	c.331 others(30): Show c.331+447_331+461delTTTTTTTTTTTTTTT		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	5/40						chrX	TogoVar
BSG_chr19_567596_588493	581045	CCAGCCCT others(8): Show CCAGCCCTCTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp2 others(53): Show HG00099.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp1 NA18952.hp2 NA18964.hp1 NA18970.hp2 NA18979.hp1 NA18995.hp2 NA18998.hp2 NA19007.hp1 NA19066.hp2 NA19074.hp1 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0019 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0019 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014	a0001c0002t0001g0139 a0001c0002t0019g0090 a0001c0003t0001g0058 others(32): Show a0001c0002t0001g0139 a0001c0002t0019g0090 a0001c0003t0001g0058 a0001c0003t0001g0066 a0001c0003t0001g0082 a0001c0003t0004g0003 a0001c0003t0004g0008 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0033 a0001c0003t0004g0039 a0001c0003t0004g0052 a0001c0003t0004g0054 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0059 a0001c0003t0004g0061 a0001c0003t0004g0063 a0001c0003t0004g0067 a0001c0003t0004g0071 a0001c0003t0004g0159 a0001c0003t0004g0160 a0001c0003t0004g0167 a0001c0003t0006g0003 a0001c0003t0006g0038 a0001c0003t0006g0060 a0001c0003t0006g0062 a0001c0003t0008g0003 a0001c0003t0008g0064 a0001c0003t0009g0003 a0001c0003t0009g0037 a0001c0003t0010g0003 a0001c0003t0010g0053 a0001c0003t0014g0055	56	306	0.1830	-15	c.793 others(30): Show c.793-261_793-247delTGGACTGCAGCCCTC		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
BSG_chr19_567596_588493	581055	GGACTGCA others(8): Show GGACTGCAGCCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02486.hp2 HG02630.hp1 others(3): Show HG01978.hp1 HG02486.hp2 HG02630.hp1 HG02818.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0104 a0001c0002t0001g0140 a0001c0002t0001g0012 a0001c0002t0001g0104 a0001c0002t0001g0140	6	306	0.0196	-15	c.793 others(30): Show c.793-254_793-240delCAGCCCTCCAGACTG		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
BSG_chr19_567596_588493	585618	ATCAGGAA others(8): Show ATCAGGAAAAGGCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0010 a0005c0007t0001g0010	1	306	0.0033	-15	c.28 others(26): Show c.2875_*2889delTCAGGAAAAGGCCTC		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding					2126		chr19	TogoVar
BSN_chr3_49549477_49676549	49638531	ATGCTGGG others(8): Show ATGCTGGGCCTGAGCC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0024 a0002c0020t0024	a0002c0020t0024g0166 a0002c0020t0024g0166	1	186	0.0054	-15	c.634 others(32): Show c.634-3734_634-3720delCTGGGCCTGAGCCTG		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSPH1_chr19_47963046_47997170	47963893	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	444	0.0023	-15	c.43 others(26): Show c.4304_*4318delAGAAAAGAAAAGAAA		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding					4152		chr19	TogoVar
BSPH1_chr19_47963046_47997170	47989110	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02615.hp1 others(10): Show HG01891.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02818.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG04204.hp2 NA18948.hp1 NA18987.hp2 NA19030.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0262 others(10): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0262 a0001c0001t0001g0282 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329	13	444	0.0293	-15	c.73+ others(30): Show c.73+2884_73+2898delTAATAATAATAATAA		BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/5						chr19	TogoVar
BSPRY_chr9_113344541_113376222	113346970	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0230 a0003c0004t0003g0230	1	448	0.0022	-15	c.-26 others(26): Show c.-2609_-2595delTTTCTTTTCTTTTCT		BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding					2570		chr9	TogoVar
BST2_chr19_17397939_17410630	17402484	AAAAAAAA others(8): Show AAAAAAAAAAAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-15	c.84 others(24): Show c.843_*857delCTCTCTTTTTTTTTT		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding					454		chr19	TogoVar
BTAF1_chr10_91918770_92036437	91949611	AATTTTAG others(8): Show AATTTTAGCTTTTTAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp2 others(88): Show HG00140.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0013 a0003c0014 others(2): Show a0001c0001 a0001c0013 a0003c0014 a0006c0011 a0008c0007	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0013t0002 a0003c0014t0002 a0006c0011t0002 a0008c0007t0002	a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 others(88): Show a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0008g0233 a0001c0001t0008g0234 a0001c0001t0011g0242 a0001c0013t0002g0091 a0003c0014t0002g0255 a0006c0011t0002g0304 a0008c0007t0002g0288	91	330	0.2758	-15	c.401 others(32): Show c.401-1765_401-1751delTTAGATTTTAGCTTT		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	4/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012800	TATAATTA others(8): Show TATAATTAAAAGGGAA	T T	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	330	0.0030	-15	c.431 others(32): Show c.4312-865_4312-851delTAATTAAAAGGGAAA		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD18_chr11_57738514_57756819	57749745	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18978.hp1 NA18995.hp1 NA18973.hp2 NA18978.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0025 a0001c0001t0001g0044	3	354	0.0085	-15	c.124 others(32): Show c.124+1305_124+1319delTTTTTTTTTTTTTTT		BTBD18	ENSG00000233436.8	transcript	ENST00000422652.6	protein_coding	2/2						chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816554	AGATGTGT others(8): Show AGATGTGTGTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0017 a0001c0001t0027g0017	1	436	0.0023	-15	c.27 others(26): Show c.2783_*2797delGATGTGTGTATATAT		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding					970		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816609	AGATGTGT others(8): Show AGATGTGTGTGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0007 a0001c0001t0073g0007	1	436	0.0023	-15	c.28 others(26): Show c.2838_*2852delGATGTGTGTGTATAT		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding					1025		chr1	TogoVar
BTBD1_chr15_83011423_83072252	83053357	AAAAATGT others(8): Show AAAAATGTAATACTGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01361.hp1 others(22): Show HG00642.hp1 HG00733.hp2 HG01361.hp1 HG01496.hp1 HG01978.hp2 HG02056.hp2 HG02257.hp1 HG02572.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG04184.hp1 NA18906.hp2 NA19030.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0004 a0001c0001t0005 a0005c0008t0004 a0001c0001t0004 a0001c0001t0005 a0005c0008t0004	a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0008 others(22): Show a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0005c0008t0004g0116	25	328	0.0762	-15	c.558 others(32): Show c.558+3017_558+3031delCCAGTATTACATTTT		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7						chr15	TogoVar
BTBD1_chr15_83011423_83072252	83066697	AGCCCGGC others(8): Show AGCCCGGCCCGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp2 others(6): Show HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01361.hp2 HG03490.hp1 HG03492.hp1 NA18951.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0005 a0001c0001 a0001c0007 a0004c0005	a0001c0001t0004 a0001c0007t0014 a0004c0005t0001 a0001c0001t0004 a0001c0007t0014 a0004c0005t0001	a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 others(6): Show a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0007t0014g0107 a0004c0005t0001g0325	9	328	0.0274	-15	c.401 others(28): Show c.401+39_401+53delCGGGCCGGGCCGGGC		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	1/7						chr15	TogoVar
BTBD2_chr19_1980448_2020714	1983398	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0026 a0003c0006t0026	a0003c0006t0026g0150 a0003c0006t0026g0150	1	364	0.0028	-15	c.30 others(26): Show c.3075_*3089delTTTTTTTTTTTTTTT		BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding					2049		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015541	GGGCGGCG others(8): Show GGGCGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19030.hp2 NA19030.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0005 a0013c0023t0005	a0013c0023t0005g0014 a0013c0023t0005g0014	1	364	0.0028	-15	c.148 others(22): Show c.148_162delGCCGCCGCCGCCGCC	p.Ala others(11): Show p.Ala50_Ala54del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	173/2629	148/1578	50/525			chr19	TogoVar
BTBD2_chr19_1980448_2020714	2017813	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG02258.hp1 HG02922.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0119 a0005c0010t0001g0120 a0005c0010t0001g0119 a0005c0010t0001g0120	2	364	0.0055	-15	c.-21 others(26): Show c.-2125_-2111delAAAAAAAAAAATATA		BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding					2100		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2020219	AGCACTTT others(8): Show AGCACTTTGAGAGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0188 a0003c0006t0002g0188	1	364	0.0028	-15	c.-45 others(26): Show c.-4531_-4517delAGCCTCTCAAAGTGC		BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding					4506		chr19	TogoVar
BTBD7_chr14_93232550_93338036	93300703	TTTGTGTG others(8): Show TTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20300.hp1 NA21309.hp1 HG01175.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0054 a0001c0001t0001 a0002c0002t0054	a0001c0001t0001g0013 a0001c0001t0001g0025 a0002c0002t0054g0153 a0001c0001t0001g0013 a0001c0001t0001g0025 a0002c0002t0054g0153	3	375	0.0080	-15	c.-10 others(34): Show c.-106-4561_-106-4547delCACACACACACACAA		BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10						chr14	TogoVar
BTBD8_chr1_92075345_92189723	92119279	CTTTTTTT others(8): Show CTTTTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	158	0.0063	-15	c.663 others(34): Show c.663-10400_663-10386delCTTTTTTTTTTTTTT		BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD9_chr6_38163451_38644929	38171846	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG02486.hp1 HG02559.hp1 others(2): Show HG00735.hp1 HG02486.hp1 HG02559.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0027 a0001c0001t0179 others(2): Show a0001c0001t0025 a0001c0001t0027 a0001c0001t0179 a0001c0001t0180 a0001c0001t0184	a0001c0001t0025g0123 a0001c0001t0027g0203 a0001c0001t0179g0167 others(2): Show a0001c0001t0025g0123 a0001c0001t0027g0203 a0001c0001t0179g0167 a0001c0001t0180g0189 a0001c0001t0184g0170	5	224	0.0223	-15	c.31 others(26): Show c.3124_*3138delTTTTTTTTTTTTTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	11/11				3124		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38171868	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0049 a0001c0001t0118g0049	1	224	0.0045	-15	c.31 others(26): Show c.3102_*3116delATTTTTTTTTTTTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	11/11				3102		chr6	TogoVar
BTBD9_chr6_38163451_38644929	38334575	AATAACAT others(8): Show AATAACATAACATAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18906.hp2 NA18977.hp1 HG02615.hp2 NA18906.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0053 a0001c0001t0185 a0001c0001t0004 a0001c0001t0053 a0001c0001t0185	a0001c0001t0004g0075 a0001c0001t0053g0151 a0001c0001t0185g0173 a0001c0001t0004g0075 a0001c0001t0053g0151 a0001c0001t0185g0173	3	224	0.0134	-15	c.126 others(36): Show c.1264+10394_1264+10408delGTTATGTTATGTTAT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38334615	CATAACAT others(8): Show CATAACATAACATAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19240.hp1 HG02055.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0179 a0001c0001t0097 a0001c0001t0179	a0001c0001t0097g0085 a0001c0001t0179g0167 a0001c0001t0097g0085 a0001c0001t0179g0167	2	224	0.0089	-15	c.126 others(36): Show c.1264+10354_1264+10368delTTTATGTTATGTTAT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38334644	TAAAATAA others(8): Show TAAAATAAAATAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02258.hp2 others(9): Show HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 others(8): Show a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0081 a0001c0001t0163 a0001c0001t0164 a0001c0001t0166 a0001c0001t0177 a0001c0001t0178 a0001c0001t0181 a0001c0001t0182	a0001c0001t0021g0088 a0001c0001t0021g0091 a0001c0001t0024g0086 others(9): Show a0001c0001t0021g0088 a0001c0001t0021g0091 a0001c0001t0024g0086 a0001c0001t0025g0123 a0001c0001t0081g0124 a0001c0001t0163g0096 a0001c0001t0164g0089 a0001c0001t0166g0135 a0001c0001t0177g0093 a0001c0001t0178g0071 a0001c0001t0181g0087 a0001c0001t0182g0095	12	224	0.0536	-15	c.126 others(36): Show c.1264+10325_1264+10339delGTTTTATTTTATTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38370247	CTTTGAAT others(8): Show CTTTGAATATATTATT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 NA21309.hp1 HG02055.hp2 HG02572.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0136 a0001c0001t0184 a0001c0001t0114 a0001c0001t0136 a0001c0001t0184	a0001c0001t0114g0013 a0001c0001t0136g0142 a0001c0001t0184g0170 a0001c0001t0114g0013 a0001c0001t0136g0142 a0001c0001t0184g0170	3	224	0.0134	-15	c.115 others(36): Show c.1155-25169_1155-25155delAATAATATATTCAAA		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374281	AAGTATAT others(8): Show AAGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0186	1	224	0.0045	-15	c.115 others(36): Show c.1155-29203_1155-29189delATATATATATATACT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTBD9_chr6_38163451_38644929	38557015	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0136	a0001c0001t0136g0142 a0001c0001t0136g0142	1	224	0.0045	-15	c.115 others(36): Show c.1154+20570_1154+20584delTTTTTTTTTTTTTTT		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10						chr6	TogoVar
BTF3L4_chr1_52051295_52095716	52072416	CATCTCTA others(8): Show CATCTCTAGAACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02486.hp1 others(5): Show HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0007 a0001c0001t0018	a0001c0001t0007g0014 a0001c0001t0007g0086 a0001c0001t0007g0241 others(4): Show a0001c0001t0007g0014 a0001c0001t0007g0086 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0018g0236 a0001c0001t0018g0237	8	276	0.0290	-15	c.168 others(32): Show c.168+7479_168+7493delATCTCTAGAACTTTT		BTF3L4	ENSG00000134717.18	transcript	ENST00000313334.13	protein_coding	3/5						chr1	TogoVar
BTF3L4_chr1_52051295_52095716	52080519	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	276	0.0073	-15	c.169 others(32): Show c.169-2803_169-2789delTTTTTTTTTTTTTTT		BTF3L4	ENSG00000134717.18	transcript	ENST00000313334.13	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
BTK_chrX_101344450_101391191	101363887	CATTATTA others(8): Show CATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02523.hp2 others(9): Show HG01891.hp2 HG02451.hp2 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG03239.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0001g0077 a0001c0001t0001g0079 others(9): Show a0001c0001t0001g0048 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0004g0068 a0001c0001t0004g0071	12	303	0.0396	-15	c.392 others(32): Show c.392-1213_392-1199delAATAATAATAATAAT		BTK	ENSG00000010671.18	transcript	ENST00000308731.8	protein_coding	5/18						chrX	TogoVar
BTN3A2_chr6_26360198_26383312	26374201	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	382	0.0026	-15	c.965 others(29): Show c.965-101_965-87delAAAAAAAAAAAAAAA		BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
BTNL2_chr6_32388339_32412181	32392527	GAAAAGAA others(8): Show GAAAAGAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01255.hp2 others(2): Show HG00642.hp2 HG01081.hp2 HG01255.hp2 HG02922.hp2 NA19030.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0004 a0008c0011t0004	a0008c0011t0004g0043 a0008c0011t0004g0186 a0008c0011t0004g0187 a0008c0011t0004g0043 a0008c0011t0004g0186 a0008c0011t0004g0187	5	453	0.0110	-15	c.85 others(24): Show c.854_*868delTTTTTTTTTTCTTTT		BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding					811		chr6	TogoVar
BTNL2_chr6_32388339_32412181	32401207	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02602.hp2 HG03704.hp1 others(3): Show HG02080.hp2 HG02602.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	6	453	0.0133	-15	c.730 others(30): Show c.730+563_730+577delTTTTTTTTTTTTTTT		BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	4/7						chr6	TogoVar
BTRC_chr10_101349165_101562313	101415486	TTTATGTT others(8): Show TTTATGTTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02145.hp1 HG02145.hp2 others(11): Show HG01928.hp1 HG02145.hp1 HG02145.hp2 HG02293.hp2 HG02559.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG03139.hp2 HG03225.hp2 NA18952.hp2 NA18975.hp2 NA19060.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0153 a0001c0001t0003g0192 a0001c0001t0004g0018 others(11): Show a0001c0001t0001g0153 a0001c0001t0003g0192 a0001c0001t0004g0018 a0001c0001t0004g0163 a0001c0001t0004g0174 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0223 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0235 a0001c0001t0004g0248	14	266	0.0526	-15	c.49- others(32): Show c.49-14804_49-14790delGTTATGTTATGTTAT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101472275	CTCTCTTC others(8): Show CTCTCTTCTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18969.hp2 HG03041.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0259 a0001c0001t0012g0009 a0001c0001t0003g0259 a0001c0001t0012g0009	2	266	0.0075	-15	c.235 others(32): Show c.235-7057_235-7043delTCTCTTCTCTTCTCT		BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB1B_chr15_40156069_40226123	40180642	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18983.hp2 NA19011.hp2 others(1): Show NA18940.hp1 NA18983.hp2 NA19011.hp2 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0165 others(1): Show a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0165 a0001c0003t0006g0164	4	352	0.0114	-15	c.582 others(32): Show c.582-3061_582-3047delTTTTTTTTTTTTTTT		BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
BUB1B_chr15_40156069_40226123	40216559	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 HG03130.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0117 a0003c0005t0003g0119 a0003c0005t0003g0117 a0003c0005t0003g0119	2	352	0.0057	-15	c.267 others(32): Show c.2679-935_2679-921delATATATATATATTTT		BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
BUB1B_chr15_40156069_40226123	40216561	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 NA18522.hp1 HG02615.hp2 HG02647.hp1 NA18522.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0003c0020 a0004c0007 a0003c0005 a0003c0020 a0004c0007	a0003c0005t0003 a0003c0020t0003 a0004c0007t0003 a0003c0005t0003 a0003c0020t0003 a0004c0007t0003	a0003c0005t0003g0148 a0003c0020t0003g0114 a0004c0007t0003g0318 a0003c0005t0003g0148 a0003c0020t0003g0114 a0004c0007t0003g0318	3	352	0.0085	-15	c.267 others(32): Show c.2679-933_2679-919delATATATATATTTTTT		BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
BUB1B_chr15_40156069_40226123	40216563	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01243.hp1 others(25): Show HG00642.hp2 HG01081.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0019 a0003c0005 a0004c0007 a0001c0019 a0003c0005 a0004c0007	a0001c0019t0003 a0003c0005t0003 a0004c0007t0003 a0001c0019t0003 a0003c0005t0003 a0004c0007t0003	a0001c0019t0003g0147 a0003c0005t0003g0006 a0003c0005t0003g0115 others(21): Show a0001c0019t0003g0147 a0003c0005t0003g0006 a0003c0005t0003g0115 a0003c0005t0003g0116 a0003c0005t0003g0118 a0003c0005t0003g0120 a0003c0005t0003g0121 a0003c0005t0003g0122 a0003c0005t0003g0123 a0003c0005t0003g0124 a0003c0005t0003g0125 a0003c0005t0003g0126 a0003c0005t0003g0127 a0003c0005t0003g0128 a0003c0005t0003g0129 a0003c0005t0003g0130 a0003c0005t0003g0149 a0003c0005t0003g0150 a0004c0007t0003g0008 a0004c0007t0003g0315 a0004c0007t0003g0316 a0004c0007t0003g0317 a0004c0007t0003g0319 a0004c0007t0003g0320	28	352	0.0796	-15	c.267 others(32): Show c.2679-931_2679-917delATATATATTTTTTTT		BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
BUB1_chr2_110632528_110683063	110680122	GCATGAAA others(8): Show GCATGAAACGGGGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 NA18970.hp2 NA18990.hp2 others(1): Show HG02523.hp1 NA18970.hp2 NA18990.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0058 a0001c0001t0002g0105 a0001c0001t0004g0059 others(1): Show a0001c0001t0002g0058 a0001c0001t0002g0105 a0001c0001t0004g0059 a0001c0001t0006g0096	4	182	0.0220	-15	c.-21 others(26): Show c.-2142_-2128delAATCCCCGTTTCATG		BUB1	ENSG00000169679.15	transcript	ENST00000302759.11	protein_coding					2060		chr2	TogoVar
BUD13_chr11_116743173_116777987	116775627	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	440	0.0023	-15	c.-26 others(26): Show c.-2678_-2664delTTTTTTTTTTTTTTT		BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding					2641		chr11	TogoVar
BUD31_chr7_99403969_99424616	99406273	TTACTTTT others(8): Show TTACTTTTCCCTCTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG06807.hp2 NA19240.hp2 HG02970.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	360	0.0083	-15	c.-31 others(26): Show c.-3137_-3123delTACTTTTCCCTCTAA		BUD31	ENSG00000106245.11	transcript	ENST00000222969.10	protein_coding					2695		chr7	TogoVar
BZW1_chr2_200806910_200832338	200826391	AGATAGAT others(8): Show AGATAGATAGATAGAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 NA18939.hp1 NA18948.hp1 others(2): Show HG00621.hp2 NA18939.hp1 NA18948.hp1 NA18966.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0035 a0001c0001t0012g0001 a0001c0001t0012g0035	5	388	0.0129	-15	c.42 others(26): Show c.4214_*4228delGATAGATAGATAGAT		BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12				4214		chr2	TogoVar
BZW1_chr2_200806910_200832338	200826393	ATAGATAG others(8): Show ATAGATAGATAGATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0005 a0001c0001t0129g0005	1	388	0.0026	-15	c.42 others(26): Show c.4217_*4231delAGATAGATAGATATT		BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12				4217	INFO_REALIGN_3_PRIME	chr2	TogoVar
BZW1_chr2_200806910_200832338	200826395	AGATAGAT others(8): Show AGATAGATAGATATTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0012 a0001c0001t0080g0012	1	388	0.0026	-15	c.42 others(26): Show c.4218_*4232delGATAGATAGATATTT		BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12				4218		chr2	TogoVar
BZW1_chr2_200806910_200832338	200826397	ATAGATAG others(8): Show ATAGATAGATATTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0006 a0001c0001t0135g0006	1	388	0.0026	-15	c.42 others(26): Show c.4221_*4235delAGATAGATATTTTTT		BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12				4221	INFO_REALIGN_3_PRIME	chr2	TogoVar
C10orf143_chr10_130058896_130115830	130079281	CTCTATTT others(8): Show CTCTATTTTAACCAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(15): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00733.hp1 HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01934.hp2 HG02004.hp2 HG02055.hp2 HG02698.hp1 HG02738.hp1 HG03017.hp2 HG04184.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0045 a0001c0002t0003g0046 others(11): Show a0001c0002t0003g0012 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0163 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0287	18	394	0.0457	-15	c.297 others(30): Show c.297+270_297+284delTTTGGTTAAAATAGA		C10orf143	ENSG00000237489.5	transcript	ENST00000637128.2	protein_coding	3/3						chr10	TogoVar

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