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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BAHCC1_chr17_81390457_81471331	81417300	T T	TGGTTGCA others(7): Show TGGTTGCATTCCCAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0115 a0003c0002t0004g0115	1	332	0.0030	14	c.179 others(31): Show c.179-9498_179-9485dupGTTGCATTCCCACG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81418810	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00741.hp2 others(3): Show HG00323.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01515.hp2 HG02109.hp2	a0004 a0049 a0054 a0004 a0049 a0054	a0004c0004 a0004c0035 a0049c0098 others(1): Show a0004c0004 a0004c0035 a0049c0098 a0054c0041	a0004c0004t0002 a0004c0004t0014 a0004c0035t0002 others(2): Show a0004c0004t0002 a0004c0004t0014 a0004c0035t0002 a0049c0098t0002 a0054c0041t0019	a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0014g0190 others(3): Show a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0014g0190 a0004c0035t0002g0215 a0049c0098t0002g0267 a0054c0041t0019g0013	6	332	0.0181	14	c.179 others(31): Show c.179-7981_179-7968dupGTGTGTGTGTGTGT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81425404	G G	GGTGATGT others(7): Show GGTGATGTGGTTGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(87): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18962.hp2 NA18971.hp1 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19088.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0015 a0016 a0017 a0018 a0019 a0031 a0039 a0047 a0049 a0052 a0053 a0054	a0001c0003 a0001c0007 a0001c0009 others(42): Show a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0026 a0001c0051 a0001c0069 a0001c0086 a0001c0094 a0001c0101 a0002c0001 a0002c0044 a0002c0063 a0002c0076 a0003c0002 a0003c0018 a0004c0004 a0004c0011 a0004c0035 a0004c0037 a0005c0005 a0005c0028 a0006c0020 a0007c0008 a0007c0048 a0008c0024 a0008c0029 a0009c0013 a0010c0031 a0010c0102 a0013c0027 a0013c0097 a0015c0014 a0016c0030 a0017c0023 a0018c0039 a0019c0036 a0031c0091 a0039c0058 a0047c0046 a0049c0098 a0052c0038 a0053c0040 a0054c0041	a0001c0003t0003 a0001c0007t0009 a0001c0007t0015 others(53): Show a0001c0003t0003 a0001c0007t0009 a0001c0007t0015 a0001c0007t0016 a0001c0007t0033 a0001c0009t0024 a0001c0009t0025 a0001c0009t0037 a0001c0010t0001 a0001c0010t0009 a0001c0012t0002 a0001c0026t0003 a0001c0051t0001 a0001c0069t0007 a0001c0086t0003 a0001c0094t0009 a0001c0101t0010 a0002c0001t0001 a0002c0001t0002 a0002c0044t0001 a0002c0063t0020 a0002c0076t0001 a0003c0002t0001 a0003c0002t0004 a0003c0002t0013 a0003c0018t0002 a0004c0004t0002 a0004c0004t0014 a0004c0011t0002 a0004c0035t0002 a0004c0037t0014 a0005c0005t0012 a0005c0028t0001 a0006c0020t0002 a0007c0008t0001 a0007c0048t0002 a0008c0024t0001 a0008c0029t0005 a0008c0029t0021 a0009c0013t0006 a0010c0031t0004 a0010c0102t0004 a0013c0027t0001 a0013c0097t0001 a0015c0014t0001 a0016c0030t0007 a0017c0023t0015 a0018c0039t0011 a0019c0036t0001 a0031c0091t0001 a0039c0058t0017 a0047c0046t0004 a0049c0098t0002 a0052c0038t0002 a0053c0040t0002 a0054c0041t0019	a0001c0003t0003g0053 a0001c0003t0003g0110 a0001c0003t0003g0302 others(85): Show a0001c0003t0003g0053 a0001c0003t0003g0110 a0001c0003t0003g0302 a0001c0007t0009g0260 a0001c0007t0015g0275 a0001c0007t0016g0234 a0001c0007t0033g0135 a0001c0009t0024g0248 a0001c0009t0025g0252 a0001c0009t0037g0319 a0001c0010t0001g0034 a0001c0010t0009g0185 a0001c0012t0002g0112 a0001c0012t0002g0137 a0001c0026t0003g0247 a0001c0051t0001g0288 a0001c0069t0007g0253 a0001c0086t0003g0031 a0001c0094t0009g0016 a0001c0101t0010g0020 a0002c0001t0001g0109 a0002c0001t0001g0274 a0002c0001t0001g0276 a0002c0001t0001g0321 a0002c0001t0001g0324 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0002g0132 a0002c0044t0001g0164 a0002c0063t0020g0251 a0002c0076t0001g0303 a0003c0002t0001g0124 a0003c0002t0001g0213 a0003c0002t0004g0122 a0003c0002t0004g0123 a0003c0002t0004g0310 a0003c0002t0013g0024 a0003c0018t0002g0143 a0004c0004t0002g0003 a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0269 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0014g0190 a0004c0011t0002g0023 a0004c0011t0002g0162 a0004c0035t0002g0215 a0004c0037t0014g0256 a0005c0005t0012g0204 a0005c0005t0012g0206 a0005c0005t0012g0207 a0005c0028t0001g0069 a0006c0020t0002g0238 a0006c0020t0002g0325 a0007c0008t0001g0005 a0007c0008t0001g0021 a0007c0008t0001g0309 a0007c0008t0001g0312 a0007c0048t0002g0308 a0008c0024t0001g0306 a0008c0029t0005g0066 a0008c0029t0021g0311 a0009c0013t0006g0029 a0009c0013t0006g0140 a0009c0013t0006g0163 a0010c0031t0004g0015 a0010c0031t0004g0018 a0010c0102t0004g0017 a0013c0027t0001g0025 a0013c0027t0001g0026 a0013c0097t0001g0235 a0015c0014t0001g0001 a0015c0014t0001g0243 a0016c0030t0007g0032 a0016c0030t0007g0239 a0017c0023t0015g0277 a0018c0039t0011g0270 a0019c0036t0001g0019 a0031c0091t0001g0042 a0039c0058t0017g0191 a0047c0046t0004g0273 a0049c0098t0002g0267 a0052c0038t0002g0144 a0053c0040t0002g0268 a0054c0041t0019g0013	90	332	0.2711	14	c.179 others(31): Show c.179-1394_179-1381dupTGATGTGGTTGGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81439943	G G	GGCCTGCA others(7): Show GGCCTGCACTTCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp1 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0016 a0001c0007t0009 a0001c0007t0016	a0001c0007t0009g0014 a0001c0007t0016g0161 a0001c0007t0009g0014 a0001c0007t0016g0161	2	332	0.0060	14	c.481 others(31): Show c.481+1459_481+1472dupCTTCCTCGCCTGCA	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98364986	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0265 a0001c0004t0003g0265	1	298	0.0034	14	c.52- others(29): Show c.52-2568_52-2555dupTTTTTTTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98392870	G G	GCAACCTC others(7): Show GCAACCTCCGCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(69): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18963.hp2 NA18970.hp1 NA18998.hp1 NA19043.hp1 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0003c0010 a0004c0016 a0008c0015	a0001c0003t0003 a0001c0003t0011 a0001c0003t0019 others(10): Show a0001c0003t0003 a0001c0003t0011 a0001c0003t0019 a0001c0003t0020 a0001c0004t0003 a0001c0004t0010 a0001c0004t0018 a0001c0005t0012 a0001c0005t0021 a0001c0007t0003 a0003c0010t0003 a0004c0016t0003 a0008c0015t0003	a0001c0003t0003g0230 a0001c0003t0003g0237 a0001c0003t0003g0239 others(68): Show a0001c0003t0003g0230 a0001c0003t0003g0237 a0001c0003t0003g0239 a0001c0003t0003g0242 a0001c0003t0003g0244 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0259 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0264 a0001c0003t0003g0266 a0001c0003t0003g0272 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0279 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0294 a0001c0003t0011g0235 a0001c0003t0011g0253 a0001c0003t0019g0243 a0001c0003t0020g0297 a0001c0004t0003g0232 a0001c0004t0003g0238 a0001c0004t0003g0240 a0001c0004t0003g0241 a0001c0004t0003g0249 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0003g0258 a0001c0004t0003g0263 a0001c0004t0003g0265 a0001c0004t0003g0267 a0001c0004t0003g0268 a0001c0004t0003g0269 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0273 a0001c0004t0003g0274 a0001c0004t0003g0275 a0001c0004t0003g0286 a0001c0004t0003g0293 a0001c0004t0010g0001 a0001c0004t0018g0236 a0001c0005t0012g0083 a0001c0005t0012g0085 a0001c0005t0021g0084 a0001c0007t0003g0231 a0001c0007t0003g0233 a0001c0007t0003g0234 a0001c0007t0003g0248 a0001c0007t0003g0252 a0003c0010t0003g0295 a0003c0010t0003g0296 a0004c0016t0003g0245 a0008c0015t0003g0278	72	298	0.2416	14	c.51+ others(29): Show c.51+7918_51+7931dupGGAGGCGGAGGTTG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98393175	A A	ATACACAC others(7): Show ATACACACACATGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0279 a0001c0003t0003g0279	1	298	0.0034	14	c.51+ others(29): Show c.51+7626_51+7627insCACATGTGTGTGTA	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98393175	A A	ATACACAC others(7): Show ATACACACATATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(61): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02572.hp2 HG02602.hp1 HG02818.hp1 HG02896.hp2 HG03139.hp1 HG03195.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18963.hp2 NA18970.hp1 NA18998.hp1 NA19043.hp1 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0003 a0001c0004 a0001c0007 others(3): Show a0001c0003 a0001c0004 a0001c0007 a0003c0010 a0004c0016 a0008c0015	a0001c0003t0003 a0001c0003t0011 a0001c0003t0019 others(8): Show a0001c0003t0003 a0001c0003t0011 a0001c0003t0019 a0001c0003t0020 a0001c0004t0003 a0001c0004t0010 a0001c0004t0018 a0001c0007t0003 a0003c0010t0003 a0004c0016t0003 a0008c0015t0003	a0001c0003t0003g0230 a0001c0003t0003g0237 a0001c0003t0003g0239 others(60): Show a0001c0003t0003g0230 a0001c0003t0003g0237 a0001c0003t0003g0239 a0001c0003t0003g0242 a0001c0003t0003g0244 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0259 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0264 a0001c0003t0003g0266 a0001c0003t0003g0272 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0294 a0001c0003t0011g0235 a0001c0003t0011g0253 a0001c0003t0019g0243 a0001c0003t0020g0297 a0001c0004t0003g0232 a0001c0004t0003g0238 a0001c0004t0003g0240 a0001c0004t0003g0241 a0001c0004t0003g0249 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0003g0258 a0001c0004t0003g0263 a0001c0004t0003g0265 a0001c0004t0003g0267 a0001c0004t0003g0268 a0001c0004t0003g0269 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0273 a0001c0004t0003g0274 a0001c0004t0003g0275 a0001c0004t0003g0286 a0001c0004t0003g0293 a0001c0004t0010g0001 a0001c0004t0018g0236 a0001c0007t0003g0248 a0001c0007t0003g0252 a0003c0010t0003g0295 a0003c0010t0003g0296 a0004c0016t0003g0245 a0008c0015t0003g0278	64	298	0.2148	14	c.51+ others(29): Show c.51+7626_51+7627insCACATATGTGTGTA	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(7): Show GGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02451.hp2 others(6): Show HG00639.hp1 HG02055.hp2 HG02451.hp2 HG02559.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0040 a0001c0001t0045 a0003c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0007g0332 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0007g0332 a0001c0001t0007g0333 a0001c0001t0012g0336 a0001c0001t0012g0338 a0001c0001t0040g0283 a0001c0001t0045g0351 a0003c0010t0001g0373	9	376	0.0239	14	c.130 others(31): Show c.130+1826_130+1827insGTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG02738.hp2 HG00544.hp2 HG00735.hp2 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0001c0001t0037 a0002c0012t0002 a0001c0001t0001 a0001c0001t0037 a0002c0012t0002	a0001c0001t0001g0330 a0001c0001t0037g0326 a0002c0012t0002g0325 a0001c0001t0001g0330 a0001c0001t0037g0326 a0002c0012t0002g0325	3	376	0.0080	14	c.130 others(31): Show c.130+1830_130+1831insTTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119217	C C	CGGGAAGG others(7): Show CGGGAAGGAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0291 a0001c0001t0022g0291	1	376	0.0027	14	c.33 others(25): Show c.3378_*3379insGGGAAGGAGCGGGG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1784		chr17	TogoVar
BANK1_chr4_101785730_102079812	101922009	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18952.hp1 NA19056.hp2 HG02015.hp1 NA18952.hp1 NA19056.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0007c0008 a0002c0003 a0007c0008	a0002c0003t0002 a0007c0008t0002 a0002c0003t0002 a0007c0008t0002	a0002c0003t0002g0185 a0007c0008t0002g0008 a0007c0008t0002g0275 a0002c0003t0002g0185 a0007c0008t0002g0008 a0007c0008t0002g0275	3	284	0.0106	14	c.120 others(33): Show c.1206+3854_1206+3867dupTGTGTGTGTGTGTG	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101947309	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA21309.hp2 HG01081.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0010 a0005c0006 a0001c0010 a0005c0006	a0001c0010t0002 a0005c0006t0004 a0001c0010t0002 a0005c0006t0004	a0001c0010t0002g0061 a0005c0006t0004g0123 a0001c0010t0002g0061 a0005c0006t0004g0123	2	284	0.0070	14	c.120 others(35): Show c.1206+29123_1206+29124insATATATATATGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986897	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18949.hp1 NA18965.hp2 others(2): Show HG02523.hp2 NA18949.hp1 NA18965.hp2 NA18990.hp2 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0003 a0005c0006t0003 a0001c0002t0003 a0005c0006t0003	a0001c0002t0003g0046 a0001c0002t0003g0114 a0001c0002t0003g0115 others(2): Show a0001c0002t0003g0046 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0005c0006t0003g0004	5	284	0.0176	14	c.120 others(35): Show c.1207-34616_1207-34615insATATATATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986899	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03130.hp1 HG04115.hp1 HG01070.hp2 HG03130.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0111 a0001c0002t0004g0127 a0001c0002t0004g0132 a0001c0002t0001g0111 a0001c0002t0004g0127 a0001c0002t0004g0132	3	284	0.0106	14	c.120 others(35): Show c.1207-34596_1207-34583dupTATATATATATATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986899	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02630.hp1 HG01070.hp1 HG01071.hp1 HG02630.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0003 a0001c0001t0001 a0005c0006t0003	a0001c0001t0001g0034 a0001c0001t0001g0090 a0005c0006t0003g0279 a0001c0001t0001g0034 a0001c0001t0001g0090 a0005c0006t0003g0279	3	284	0.0106	14	c.120 others(35): Show c.1207-34614_1207-34613insGTGTGTGTGTGTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	87971256	G G	GCCTTGCA others(7): Show GCCTTGCATGCTGTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00735.hp2 others(45): Show HG00438.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02300.hp1 HG02451.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp2 NA18949.hp1 NA18975.hp2 NA18984.hp1 NA18989.hp2 NA19000.hp2 NA19002.hp2 NA19043.hp1 NA19060.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0008 a0001c0010 others(6): Show a0001c0004 a0001c0008 a0001c0010 a0001c0020 a0001c0026 a0001c0027 a0002c0018 a0002c0019 a0002c0028	a0001c0004t0004 a0001c0004t0012 a0001c0008t0004 others(8): Show a0001c0004t0004 a0001c0004t0012 a0001c0008t0004 a0001c0010t0007 a0001c0020t0007 a0001c0026t0004 a0001c0027t0007 a0002c0018t0016 a0002c0019t0017 a0002c0019t0018 a0002c0028t0015	a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 others(45): Show a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0115 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0145 a0001c0004t0004g0148 a0001c0004t0004g0150 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0004g0154 a0001c0004t0004g0155 a0001c0004t0004g0157 a0001c0004t0004g0166 a0001c0004t0004g0167 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0012g0135 a0001c0004t0012g0140 a0001c0008t0004g0146 a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0127 a0001c0010t0007g0149 a0001c0010t0007g0151 a0001c0010t0007g0156 a0001c0010t0007g0158 a0001c0010t0007g0159 a0001c0020t0007g0141 a0001c0020t0007g0147 a0001c0026t0004g0133 a0001c0027t0007g0090 a0002c0018t0016g0134 a0002c0019t0017g0086 a0002c0019t0018g0085 a0002c0028t0015g0087	48	352	0.1364	14	c.-68 others(31): Show c.-68-3788_-68-3787insGCATGCTGTTCCTT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87987712	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG01261.hp1 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0129 a0001c0004t0004g0157 a0001c0004t0004g0129 a0001c0004t0004g0157	2	352	0.0057	14	c.362 others(31): Show c.362+3467_362+3480dupAAAAAAAAAAAAAA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARD1_chr2_214720646_214814683	214751117	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0105 a0004c0010t0008g0105	1	362	0.0028	14	c.167 others(33): Show c.1677+1329_1677+1330insTATATATATACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214771943	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03225.hp1 HG03471.hp1 HG00741.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0014 a0001c0004t0027 a0001c0004t0008 a0001c0004t0014 a0001c0004t0027	a0001c0004t0008g0103 a0001c0004t0014g0032 a0001c0004t0027g0123 a0001c0004t0008g0103 a0001c0004t0014g0032 a0001c0004t0027g0123	3	362	0.0083	14	c.131 others(33): Show c.1315-2632_1315-2631insCTTTTTTTTTTTTT	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	4/10			chr2	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01928.hp2 HG01975.hp2 others(8): Show HG00544.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG04204.hp1 NA18951.hp2 NA18976.hp1 NA18976.hp2 NA19001.hp1 NA19081.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0014	11	446	0.0247	14	c.-23 others(25): Show c.-2310_-2309insTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BARX1_chr9_93946627_93960355	93950450	A A	ACCCCCCC others(7): Show ACCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG02451.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0006 a0001c0002t0002g0005 a0001c0001t0002g0006 a0001c0002t0002g0005	2	408	0.0049	14	c.17 others(25): Show c.1713_*1714insGGGGGGGGGGGGGG	BARX1	ENSG00000131668.14	transcript	ENST00000253968.11	protein_coding		1176		chr9	TogoVar
BASP1_chr5_17212631_17281834	17217071	T T	TGTGAGAG others(7): Show TGTGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG02738.hp1 others(1): Show HG00099.hp2 HG01175.hp2 HG02738.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0041 a0001c0001t0024 a0001c0001t0041	a0001c0001t0024g0022 a0001c0001t0024g0023 a0001c0001t0024g0024 others(1): Show a0001c0001t0024g0022 a0001c0001t0024g0023 a0001c0001t0024g0024 a0001c0001t0041g0303	4	370	0.0108	14	c.-74 others(23): Show c.-749_-748insGTGAGAGAGAGAGA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		559		chr5	TogoVar
BASP1_chr5_17212631_17281834	17275944	C C	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 NA21309.hp2 HG03130.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0053 a0001c0001t0052 a0001c0001t0053	a0001c0001t0052g0240 a0001c0001t0053g0247 a0001c0001t0052g0240 a0001c0001t0053g0247	2	370	0.0054	14	c.57 others(21): Show c.57_*70dupCTCTCTCTCTCTCT	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding	2/2	71	INFO_REALIGN_3_PRIME	chr5	TogoVar
BATF2_chr11_64982945_65001971	64983548	A A	ATATTTTT others(7): Show ATATTTTTTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0052 a0001c0001t0013g0052	1	404	0.0025	14	c.55 others(25): Show c.5580_*5581insAAATAAAAAAAATA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4396		chr11	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	462	0.0022	14	c.53 others(25): Show c.5370_*5371insAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF_chr14_75517469_75551992	75539424	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	376	0.0027	14	c.169 others(31): Show c.169-7024_169-7011dupTTTTTTTTTTTTTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34751700	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	380	0.0026	14	c.18 others(25): Show c.1807_*1808insTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1030		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34759171	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01069.hp1 others(14): Show HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02148.hp2 HG02273.hp2 HG03942.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0192 others(14): Show a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0192 a0001c0003t0005g0193 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0371 a0001c0003t0005g0372 a0001c0003t0005g0373 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378	17	380	0.0447	14	c.424 others(31): Show c.4244-326_4244-325insACAAAAAAAAAAAA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	24/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34759174	T T	TTTTTTTT others(7): Show TTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19079.hp2 NA18977.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0141 a0001c0002t0003g0180 a0001c0002t0003g0141 a0001c0002t0003g0180	2	380	0.0053	14	c.424 others(31): Show c.4244-329_4244-328insCAAACAAAAAAAAA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	24/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34759184	T T	TTTTGTTT others(7): Show TTTTGTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	380	0.0026	14	c.424 others(31): Show c.4244-339_4244-338insCAAAAAAAAACAAA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	24/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34759184	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(35): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00738.hp1 HG01361.hp2 HG01516.hp1 HG01993.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp2 NA18949.hp2 NA18951.hp1 NA18978.hp1 NA18981.hp1 NA18999.hp1 NA19005.hp1 NA19030.hp2 NA19057.hp1 NA19074.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0003c0014	a0001c0002t0003 a0001c0004t0004 a0001c0005t0006 others(2): Show a0001c0002t0003 a0001c0004t0004 a0001c0005t0006 a0001c0013t0004 a0003c0014t0004	a0001c0002t0003g0001 a0001c0002t0003g0142 a0001c0002t0003g0143 others(35): Show a0001c0002t0003g0001 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0166 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0179 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0189 a0001c0004t0004g0003 a0001c0004t0004g0341 a0001c0004t0004g0343 a0001c0004t0004g0345 a0001c0004t0004g0348 a0001c0004t0004g0356 a0001c0004t0004g0362 a0001c0005t0006g0197 a0001c0005t0006g0200 a0001c0005t0006g0202 a0001c0013t0004g0046 a0003c0014t0004g0357	38	380	0.1000	14	c.424 others(31): Show c.4244-339_4244-338insCAAAAAAAAAAAAA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	24/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34787363	A A	AAAAAAAA others(7): Show AAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01069.hp1 others(16): Show HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02148.hp2 HG02273.hp2 HG03942.hp1 HG06807.hp2 NA18966.hp2 NA19001.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0003t0005 a0001c0002t0002 a0001c0002t0003 a0001c0003t0005	a0001c0002t0002g0083 a0001c0002t0002g0094 a0001c0002t0002g0127 others(16): Show a0001c0002t0002g0083 a0001c0002t0002g0094 a0001c0002t0002g0127 a0001c0002t0002g0133 a0001c0002t0003g0156 a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0192 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0371 a0001c0003t0005g0372 a0001c0003t0005g0373 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378	19	380	0.0500	14	c.151 others(33): Show c.1511-1143_1511-1142insCTTTTCTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	12/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34796165	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02280.hp2 HG02647.hp2 others(1): Show HG01516.hp1 HG02280.hp2 HG02647.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0152 a0001c0002t0003g0155 a0001c0002t0003g0173 others(1): Show a0001c0002t0003g0152 a0001c0002t0003g0155 a0001c0002t0003g0173 a0001c0002t0003g0176	4	380	0.0105	14	c.112 others(31): Show c.1129-414_1129-401dupGTGTGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	9/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832199	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0177 a0001c0002t0003g0177	1	380	0.0026	14	c.393 others(31): Show c.393-6044_393-6043insATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832205	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0157 a0001c0002t0003g0157	1	380	0.0026	14	c.393 others(31): Show c.393-6050_393-6049insATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832209	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0170 a0001c0002t0003g0170	1	380	0.0026	14	c.393 others(31): Show c.393-6054_393-6053insATATATATATATAT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACATA others(7): Show CACACATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	380	0.0026	14	c.393 others(31): Show c.393-6060_393-6059insATATATATATGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866499	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0166	1	380	0.0026	14	c.114 others(31): Show c.114-4178_114-4177insCTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAAA others(7): Show AAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00642.hp1 others(50): Show HG00140.hp1 HG00408.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01981.hp1 HG02004.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18947.hp2 NA18981.hp1 NA19000.hp1 NA19030.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0003c0014	a0001c0001t0001 a0001c0002t0003 a0001c0003t0005 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0003t0005 a0001c0004t0004 a0001c0012t0004 a0003c0014t0004	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0024 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0002t0003g0176 a0001c0002t0003g0188 a0001c0003t0005g0376 a0001c0004t0004g0018 a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0340 a0001c0004t0004g0341 a0001c0004t0004g0342 a0001c0004t0004g0343 a0001c0004t0004g0344 a0001c0004t0004g0345 a0001c0004t0004g0346 a0001c0004t0004g0347 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0004g0351 a0001c0004t0004g0352 a0001c0004t0004g0353 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0358 a0001c0004t0004g0359 a0001c0004t0004g0360 a0001c0004t0004g0361 a0001c0004t0004g0362 a0001c0004t0004g0363 a0001c0004t0004g0379 a0001c0012t0004g0191 a0003c0014t0004g0357	53	380	0.1395	14	c.114 others(31): Show c.114-4181_114-4180insCTTTCTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp2 HG01884.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0023 a0001c0007t0002g0063 a0001c0001t0002g0023 a0001c0007t0002g0063	2	200	0.0100	14	c.571 others(31): Show c.571+1418_571+1431dupTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ2A_chr12_56590596_56635326	56597562	G G	GCACACAC others(7): Show GCACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG01071.hp2 HG01884.hp1 others(11): Show HG00558.hp2 HG01071.hp2 HG01884.hp1 HG01978.hp2 HG02074.hp1 HG02293.hp2 HG03239.hp1 HG04199.hp1 HG04199.hp2 NA18941.hp1 NA18945.hp2 NA18948.hp2 NA18990.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0011 a0001c0001t0016 a0001c0001t0047 others(4): Show a0001c0001t0011 a0001c0001t0016 a0001c0001t0047 a0001c0001t0048 a0001c0001t0081 a0001c0001t0082 a0001c0012t0011	a0001c0001t0011g0067 a0001c0001t0011g0098 a0001c0001t0011g0169 others(10): Show a0001c0001t0011g0067 a0001c0001t0011g0098 a0001c0001t0011g0169 a0001c0001t0011g0200 a0001c0001t0011g0202 a0001c0001t0016g0018 a0001c0001t0016g0122 a0001c0001t0016g0138 a0001c0001t0047g0196 a0001c0001t0048g0157 a0001c0001t0081g0159 a0001c0001t0082g0150 a0001c0012t0011g0161	14	316	0.0443	14	c.10 others(25): Show c.1042_*1055dupTGTGTGTGTGTGTG	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1055		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(7): Show GACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG03041.hp1 NA19030.hp1 HG02145.hp1 HG03041.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0014 a0001c0001 a0001c0002 a0005c0014	a0001c0001t0037 a0001c0002t0065 a0005c0014t0037 a0001c0001t0037 a0001c0002t0065 a0005c0014t0037	a0001c0001t0037g0221 a0001c0002t0065g0214 a0005c0014t0037g0241 a0001c0001t0037g0221 a0001c0002t0065g0214 a0005c0014t0037g0241	3	316	0.0095	14	c.96 others(23): Show c.967_*980dupGTGTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159377812	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0182 a0003c0003t0002g0182	1	216	0.0046	14	c.400 others(33): Show c.4006-3073_4006-3060dupTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp2 others(24): Show HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG01496.hp2 HG01978.hp1 HG02109.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03209.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18980.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0001c0008 a0001c0023 others(9): Show a0001c0001 a0001c0008 a0001c0023 a0002c0002 a0002c0007 a0002c0028 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0010 a0010c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0008t0001 a0001c0023t0002 a0002c0002t0001 a0002c0007t0002 a0002c0028t0002 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0005c0005t0001 a0006c0006t0001 a0007c0010t0001 a0010c0030t0001	a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0002g0148 others(24): Show a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0002g0148 a0001c0001t0007g0086 a0001c0001t0009g0132 a0001c0008t0001g0060 a0001c0023t0002g0147 a0002c0002t0001g0036 a0002c0002t0001g0050 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0007t0002g0185 a0002c0028t0002g0216 a0003c0003t0001g0031 a0003c0003t0001g0059 a0004c0004t0001g0076 a0004c0004t0002g0203 a0005c0005t0001g0034 a0005c0005t0001g0042 a0005c0005t0001g0069 a0006c0006t0001g0081 a0007c0010t0001g0114 a0010c0030t0001g0039	27	216	0.1250	14	c.-2- others(31): Show c.-2-13013_-2-13000dupTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBLN_chr9_128155265_128168924	128161087	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG06807.hp1 others(6): Show HG02622.hp1 HG02965.hp1 HG06807.hp1 NA18960.hp1 NA18965.hp1 NA18972.hp2 NA18977.hp2 NA19030.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0022 a0001c0001t0001g0010 a0001c0001t0002g0022	9	396	0.0227	14	c.79+ others(27): Show c.79+609_79+610insAAAAAAAAAAAAAA	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
BBOX1_chr11_27035815_27132809	27054205	C C	CTGTGTGT others(7): Show CTGTGTGTGTATGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	318	0.0031	14	c.-38 others(31): Show c.-38-1179_-38-1178insATGTGTGTGTGTGT	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0247	1	318	0.0031	14	c.-38 others(31): Show c.-38-1158_-38-1157insTGTGTGTGTGCGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG01069.hp1 others(9): Show HG00597.hp2 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01361.hp1 HG02135.hp2 HG02300.hp1 HG02735.hp2 HG03669.hp2 NA18954.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0002c0008t0001 a0001c0001t0001 a0001c0001t0003 a0002c0008t0001	a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0001 a0001c0001t0003g0118 a0001c0001t0003g0248 a0002c0008t0001g0053	12	318	0.0377	14	c.-38 others(31): Show c.-38-1158_-38-1157insTGTGTGTGTGTGCG	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0186 a0001c0004t0001g0186	1	318	0.0031	14	c.220 others(29): Show c.220-138_220-137insAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar

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