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
BAD_chr11_64264830_64289665	64271207	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18945.hp2 NA18962.hp1 others(9): Show HG00597.hp2 NA18945.hp2 NA18962.hp1 NA18970.hp1 NA18979.hp2 NA18991.hp2 NA18993.hp2 NA19054.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0037 a0001c0001t0003g0038 others(8): Show a0001c0001t0003g0008 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0070 a0001c0001t0003g0071	12	388	0.0309	-14	c.378 others(29): Show c.378+392_378+405delTGTGTGTGTGTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAD_chr11_64264830_64289665	64271294	TCTCACAC others(7): Show TCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19007.hp1 HG00280.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0139 a0001c0002t0001g0111 a0001c0001t0001g0139 a0001c0002t0001g0111	2	388	0.0052	-14	c.378 others(29): Show c.378+305_378+318delTGTGTGTGTGTGAG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAG4_chr8_38171855_38218301	38201868	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	306	0.0033	-14	c.379 others(31): Show c.379-5642_379-5629delATATATATATATTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201872	ATATATAT others(7): Show ATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01106.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0245 a0001c0001t0001g0190 a0001c0001t0001g0245	2	306	0.0065	-14	c.379 others(31): Show c.379-5638_379-5625delATATATATTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG5_chr14_103551551_103567657	103564571	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03453.hp2 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	2	410	0.0049	-14	c.-19 others(25): Show c.-1998_-1985delAAAAAAAAAAAAAA	BAG5	ENSG00000166170.12	transcript	ENST00000299204.6	protein_coding		1915		chr14	TogoVar
BAG6_chr6_31634028_31657661	31652320	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	427	0.0023	-14	c.-14 others(28): Show c.-14+90_-14+103delGTGTGTGTGTGTGT	BAG6	ENSG00000204463.14	transcript	ENST00000676615.2	protein_coding	1/25			chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81418795	GCGTGTGT others(7): Show GCGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02630.hp2 HG03486.hp1 HG00639.hp1 HG02630.hp2 HG03486.hp1	a0001 a0015 a0001 a0015	a0001c0007 a0015c0014 a0001c0007 a0015c0014	a0001c0007t0009 a0001c0007t0016 a0015c0014t0001 a0001c0007t0009 a0001c0007t0016 a0015c0014t0001	a0001c0007t0009g0014 a0001c0007t0016g0161 a0015c0014t0001g0243 a0001c0007t0009g0014 a0001c0007t0016g0161 a0015c0014t0001g0243	3	332	0.0090	-14	c.179 others(31): Show c.179-7991_179-7978delACGTGTGTGTGTGT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81425463	GGTGATGT others(7): Show GGTGATGTGGTTGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(27): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01261.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02809.hp1 HG02895.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 NA19240.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0009 a0010 a0018 a0049 a0052 a0053 a0054	a0001c0009 a0001c0012 a0001c0094 others(14): Show a0001c0009 a0001c0012 a0001c0094 a0002c0001 a0002c0063 a0003c0002 a0003c0018 a0004c0004 a0004c0011 a0004c0035 a0009c0013 a0010c0031 a0018c0039 a0049c0098 a0052c0038 a0053c0040 a0054c0041	a0001c0009t0025 a0001c0009t0037 a0001c0012t0002 others(16): Show a0001c0009t0025 a0001c0009t0037 a0001c0012t0002 a0001c0094t0009 a0002c0001t0002 a0002c0063t0020 a0003c0002t0013 a0003c0018t0002 a0004c0004t0002 a0004c0004t0014 a0004c0011t0002 a0004c0035t0002 a0009c0013t0006 a0010c0031t0004 a0018c0039t0011 a0049c0098t0002 a0052c0038t0002 a0053c0040t0002 a0054c0041t0019	a0001c0009t0025g0252 a0001c0009t0037g0319 a0001c0012t0002g0137 others(26): Show a0001c0009t0025g0252 a0001c0009t0037g0319 a0001c0012t0002g0137 a0001c0094t0009g0016 a0002c0001t0002g0132 a0002c0063t0020g0251 a0003c0002t0013g0024 a0003c0018t0002g0143 a0004c0004t0002g0003 a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0269 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0014g0190 a0004c0011t0002g0023 a0004c0011t0002g0162 a0004c0035t0002g0215 a0009c0013t0006g0029 a0009c0013t0006g0140 a0009c0013t0006g0163 a0010c0031t0004g0015 a0018c0039t0011g0270 a0049c0098t0002g0267 a0052c0038t0002g0144 a0053c0040t0002g0268 a0054c0041t0019g0013	30	332	0.0904	-14	c.179 others(31): Show c.179-1321_179-1308delTGATGTGGTTGGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81425735	GGTGATGT others(7): Show GGTGATGTGGTTGGT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0275 a0001c0007t0015g0275	1	332	0.0030	-14	c.179 others(31): Show c.179-1049_179-1036delTGATGTGGTTGGTG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81446526	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18950.hp1 NA18962.hp1 others(2): Show HG01516.hp2 NA18950.hp1 NA18962.hp1 NA18975.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0026 a0001c0003 a0001c0010 a0001c0026	a0001c0003t0003 a0001c0010t0001 a0001c0026t0003 a0001c0003t0003 a0001c0010t0001 a0001c0026t0003	a0001c0003t0003g0184 a0001c0003t0003g0230 a0001c0003t0003g0259 others(2): Show a0001c0003t0003g0184 a0001c0003t0003g0230 a0001c0003t0003g0259 a0001c0010t0001g0255 a0001c0026t0003g0247	5	332	0.0151	-14	c.316 others(31): Show c.3164-485_3164-472delTTTTTTTTTTTTTT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1343850	GCTGGGAC others(7): Show GCTGGGACAGGCCGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01099.hp1 others(31): Show HG00642.hp1 HG00733.hp2 HG01099.hp1 HG01099.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 NA18906.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0013 a0001c0033 a0004c0011 a0004c0025 a0005c0012	a0001c0001t0003 a0001c0001t0026 a0001c0001t0036 others(12): Show a0001c0001t0003 a0001c0001t0026 a0001c0001t0036 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0008t0007 a0001c0013t0002 a0001c0033t0003 a0004c0011t0003 a0004c0025t0003 a0005c0012t0010 a0005c0012t0027	a0001c0001t0003g0043 a0001c0001t0026g0027 a0001c0001t0036g0027 others(22): Show a0001c0001t0003g0043 a0001c0001t0026g0027 a0001c0001t0036g0027 a0001c0002t0002g0019 a0001c0003t0001g0063 a0001c0003t0003g0014 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0134 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0010g0159 a0001c0003t0016g0152 a0001c0003t0016g0156 a0001c0008t0007g0016 a0001c0008t0007g0060 a0001c0013t0002g0019 a0001c0033t0003g0040 a0004c0011t0003g0042 a0004c0011t0003g0166 a0004c0025t0003g0155 a0005c0012t0010g0158 a0005c0012t0027g0157	34	358	0.0950	-14	c.138 others(31): Show c.1387-158_1387-145delTCTGGGACAGGCCG	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	15/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
BAMBI_chr10_28672521_28687932	28680888	TCAAAAAG others(7): Show TCAAAAAGCCTAACA	T T	intron_variant intron_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	436	0.0023	-14	c.77- others(27): Show c.77-369_77-356delCAAAAAGCCTAACA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding	1/2			chr10	TogoVar
BANK1_chr4_101785730_102079812	101828383	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(50): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00741.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01981.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02165.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18974.hp2 NA18979.hp1 NA18986.hp1 NA19009.hp2 NA19056.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0010	a0003c0004 a0005c0006 a0007c0008 others(2): Show a0003c0004 a0005c0006 a0007c0008 a0007c0016 a0010c0015	a0003c0004t0001 a0003c0004t0003 a0005c0006t0001 others(5): Show a0003c0004t0001 a0003c0004t0003 a0005c0006t0001 a0005c0006t0003 a0005c0006t0004 a0007c0008t0002 a0007c0016t0002 a0010c0015t0003	a0003c0004t0001g0003 a0003c0004t0001g0005 a0003c0004t0001g0010 others(50): Show a0003c0004t0001g0003 a0003c0004t0001g0005 a0003c0004t0001g0010 a0003c0004t0001g0012 a0003c0004t0001g0015 a0003c0004t0001g0052 a0003c0004t0001g0060 a0003c0004t0001g0122 a0003c0004t0001g0141 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0165 a0003c0004t0001g0195 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0001g0256 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0263 a0003c0004t0001g0268 a0003c0004t0001g0272 a0003c0004t0001g0281 a0003c0004t0003g0047 a0003c0004t0003g0120 a0003c0004t0003g0126 a0003c0004t0003g0139 a0003c0004t0003g0252 a0003c0004t0003g0267 a0005c0006t0001g0006 a0005c0006t0001g0167 a0005c0006t0001g0241 a0005c0006t0001g0271 a0005c0006t0001g0280 a0005c0006t0003g0004 a0005c0006t0003g0257 a0005c0006t0003g0259 a0005c0006t0003g0264 a0005c0006t0003g0265 a0005c0006t0003g0266 a0005c0006t0003g0278 a0005c0006t0003g0279 a0005c0006t0004g0123 a0007c0008t0002g0008 a0007c0008t0002g0009 a0007c0008t0002g0013 a0007c0008t0002g0269 a0007c0008t0002g0274 a0007c0008t0002g0275 a0007c0016t0002g0273 a0010c0015t0003g0270	53	284	0.1866	-14	c.71- others(29): Show c.71-1411_71-1398delATATATATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02056.hp2 HG02300.hp2 others(6): Show HG01175.hp1 HG02056.hp2 HG02300.hp2 NA18949.hp1 NA18965.hp2 NA18990.hp2 NA19004.hp2 NA19054.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0004 a0001c0002 a0002c0003 a0003c0004	a0001c0002t0002 a0001c0002t0003 a0002c0003t0002 others(2): Show a0001c0002t0002 a0001c0002t0003 a0002c0003t0002 a0003c0004t0001 a0003c0004t0003	a0001c0002t0002g0125 a0001c0002t0002g0283 a0001c0002t0003g0046 others(6): Show a0001c0002t0002g0125 a0001c0002t0002g0283 a0001c0002t0003g0046 a0001c0002t0003g0106 a0001c0002t0003g0115 a0001c0002t0003g0116 a0002c0003t0002g0198 a0003c0004t0001g0262 a0003c0004t0003g0047	9	284	0.0317	-14	c.469 others(31): Show c.469+9767_469+9780delTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101847736	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01361.hp2 others(24): Show HG00423.hp1 HG00673.hp1 HG01361.hp2 HG01981.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02280.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG03688.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18949.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp1 NA18990.hp2 NA18998.hp2 NA19004.hp2 NA19054.hp1 NA19064.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0005c0006t0003	a0001c0001t0001g0066 a0001c0001t0003g0054 a0001c0001t0003g0276 others(24): Show a0001c0001t0001g0066 a0001c0001t0003g0054 a0001c0001t0003g0276 a0001c0002t0001g0045 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0284 a0001c0002t0002g0125 a0001c0002t0002g0162 a0001c0002t0002g0204 a0001c0002t0002g0283 a0001c0002t0003g0014 a0001c0002t0003g0046 a0001c0002t0003g0106 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0158 a0001c0002t0003g0258 a0001c0002t0003g0282 a0005c0006t0003g0004 a0005c0006t0003g0257 a0005c0006t0003g0259 a0005c0006t0003g0266	27	284	0.0951	-14	c.470 others(31): Show c.470-7273_470-7260delCACACACACACACA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101922009	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18973.hp1 NA19007.hp2 HG02129.hp1 NA18973.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0214 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0214	3	284	0.0106	-14	c.120 others(33): Show c.1206+3854_1206+3867delTGTGTGTGTGTGTG	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101947299	ATATATAT others(7): Show ATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(45): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02300.hp2 HG02886.hp1 HG03041.hp1 HG03490.hp2 HG03579.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18940.hp1 NA18942.hp2 NA18955.hp1 NA18959.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18986.hp2 NA18994.hp2 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19064.hp2 NA19084.hp2 NA19240.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 others(1): Show a0001c0001 a0003c0004 a0004c0005 a0004c0009	a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 others(3): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0003 a0004c0005t0001 a0004c0009t0001 a0004c0009t0002	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(45): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0003c0004t0001g0003 a0003c0004t0001g0005 a0003c0004t0001g0010 a0003c0004t0001g0012 a0003c0004t0001g0015 a0003c0004t0001g0052 a0003c0004t0001g0060 a0003c0004t0001g0122 a0003c0004t0001g0141 a0003c0004t0001g0145 a0003c0004t0001g0146 a0003c0004t0001g0165 a0003c0004t0001g0195 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0254 a0003c0004t0001g0255 a0003c0004t0001g0256 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0263 a0003c0004t0001g0268 a0003c0004t0001g0272 a0003c0004t0001g0281 a0003c0004t0003g0126 a0003c0004t0003g0139 a0003c0004t0003g0267 a0004c0005t0001g0011 a0004c0005t0001g0022 a0004c0005t0001g0042 a0004c0005t0001g0053 a0004c0005t0001g0075 a0004c0005t0001g0081 a0004c0005t0001g0083 a0004c0005t0001g0118 a0004c0005t0001g0155 a0004c0005t0001g0156 a0004c0005t0001g0157 a0004c0005t0001g0159 a0004c0009t0001g0117 a0004c0009t0001g0232 a0004c0009t0002g0171	48	284	0.1690	-14	c.120 others(35): Show c.1206+29116_1206+29129delATATATATGTATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101950050	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02647.hp2 others(11): Show HG02055.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 NA19081.hp1 NA19086.hp2 NA20129.hp1	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0001c0002 a0005c0006 others(1): Show a0001c0001 a0001c0002 a0005c0006 a0011c0020	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0005c0006t0003 a0011c0020t0004	a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0003g0016 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0003g0016 a0001c0002t0001g0170 a0001c0002t0003g0050 a0001c0002t0003g0144 a0001c0002t0003g0166 a0001c0002t0003g0249 a0001c0002t0003g0251 a0001c0002t0003g0253 a0005c0006t0003g0264 a0005c0006t0003g0265 a0005c0006t0003g0278 a0011c0020t0004g0051	14	284	0.0493	-14	c.120 others(35): Show c.1206+31865_1206+31878delTGTGTGTGCGCGTG	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986853	ATGTATAT others(7): Show ATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02602.hp1 others(1): Show HG02145.hp1 HG02486.hp2 HG02602.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0002t0006g0041 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0002t0006g0041 a0001c0002t0006g0092	4	284	0.0141	-14	c.120 others(35): Show c.1207-34657_1207-34644delATATATATATGTGT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88030013	GAGTCCTC others(7): Show GAGTCCTCAGTGATC	G G	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19083.hp2 NA19080.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0022 a0001c0002t0008g0023 a0001c0002t0008g0022 a0001c0002t0008g0023	2	352	0.0057	-14	c.106 others(33): Show c.1063+2368_1063+2381delCTCAGTGATCAGTC	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARD1_chr2_214720646_214814683	214723984	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0057 a0001c0004t0057	a0001c0004t0057g0278 a0001c0004t0057g0278	1	362	0.0028	-14	c.46 others(25): Show c.4678_*4691delACACACACACACAC	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding		1661		chr2	TogoVar
BARD1_chr2_214720646_214814683	214751105	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19090.hp2 HG02004.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0073 a0001c0003t0005g0080 a0001c0003t0005g0073 a0001c0003t0005g0080	2	362	0.0055	-14	c.167 others(33): Show c.1677+1328_1677+1341delTACACACACACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214751111	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0132 a0002c0001t0001g0132	1	362	0.0028	-14	c.167 others(33): Show c.1677+1322_1677+1335delTATATATACACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214751115	GTGTATAT others(7): Show GTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG03098.hp1 HG02818.hp2 HG02965.hp2 HG03098.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0023 a0012c0013t0023	a0012c0013t0023g0225 a0012c0013t0023g0227 a0012c0013t0023g0228 a0012c0013t0023g0225 a0012c0013t0023g0227 a0012c0013t0023g0228	3	362	0.0083	-14	c.167 others(33): Show c.1677+1318_1677+1331delTATATATATATACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214788661	CTACACAT others(7): Show CTACACATGACCATT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0321 a0001c0002t0003g0321	1	362	0.0028	-14	c.364 others(31): Show c.364+3622_364+3635delAATGGTCATGTGTA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	3/10			chr2	TogoVar
BARHL1_chr9_132577606_132595252	132581538	GCACACAC others(7): Show GCACACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	472	0.0021	-14	c.-12 others(25): Show c.-1259_-1246delCACACACACACACA	BARHL1	ENSG00000125492.11	transcript	ENST00000263610.7	protein_coding		1067		chr9	TogoVar
BARX2_chr11_129370848_129457279	129440937	GTCAGGGG others(7): Show GTCAGGGGTGATTGT	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	400	0.0025	-14	c.489 others(31): Show c.489-1897_489-1884delTCAGGGGTGATTGT	BARX2	ENSG00000043039.7	transcript	ENST00000281437.6	protein_coding	2/3			chr11	TogoVar
BATF_chr14_75517469_75551992	75525808	TTTGGGGA others(7): Show TTTGGGGACGGCCCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG01496.hp1 others(22): Show HG01109.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0027 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0289 a0001c0001t0001g0298	25	376	0.0665	-14	c.168 others(29): Show c.168+624_168+637delGGGACGGCCCATTG	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34756065	TCCTGGGC others(7): Show TCCTGGGCTCAAGCG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 HG03139.hp1 others(2): Show HG02723.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 others(2): Show a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099	5	380	0.0132	-14	c.438 others(33): Show c.4387-1165_4387-1152delCGCTTGAGCCCAGG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	25/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34836378	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(28): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00642.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01515.hp2 HG01516.hp2 HG02004.hp2 HG02056.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp1 HG03669.hp1 HG04115.hp1 NA18961.hp2 NA18974.hp1 NA18984.hp2 NA19058.hp1 NA19085.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0212 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0009t0001g0307	31	380	0.0816	-14	c.393 others(33): Show c.393-10236_393-10223delTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34844205	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(186): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0002c0006 a0003c0014 a0005c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0003t0005 a0001c0004t0004 a0001c0007t0005 a0001c0012t0004 a0002c0006t0002 a0002c0006t0007 a0003c0014t0004 a0005c0008t0003	a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 others(186): Show a0001c0002t0001g0102 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0003g0001 a0001c0002t0003g0060 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0008g0137 a0001c0003t0005g0048 a0001c0003t0005g0050 a0001c0003t0005g0192 a0001c0003t0005g0193 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0371 a0001c0003t0005g0372 a0001c0003t0005g0373 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0376 a0001c0003t0005g0377 a0001c0003t0005g0378 a0001c0004t0004g0003 a0001c0004t0004g0018 a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0150 a0001c0004t0004g0340 a0001c0004t0004g0341 a0001c0004t0004g0342 a0001c0004t0004g0343 a0001c0004t0004g0344 a0001c0004t0004g0345 a0001c0004t0004g0346 a0001c0004t0004g0347 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0004g0350 a0001c0004t0004g0351 a0001c0004t0004g0352 a0001c0004t0004g0353 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0358 a0001c0004t0004g0359 a0001c0004t0004g0362 a0001c0004t0004g0363 a0001c0004t0004g0379 a0001c0007t0005g0135 a0001c0012t0004g0191 a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 a0002c0006t0002g0054 a0002c0006t0002g0055 a0002c0006t0002g0057 a0002c0006t0007g0056 a0003c0014t0004g0357 a0005c0008t0003g0178	189	380	0.4974	-14	c.392 others(33): Show c.392+17825_392+17838delTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34844775	GCGCACAC others(7): Show GCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	380	0.0026	-14	c.392 others(33): Show c.392+17255_392+17268delTGTGTGTGTGTGCG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34872913	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	380	0.0026	-14	c.113 others(31): Show c.113+1565_113+1578delTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34877239	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01256.hp2 others(20): Show HG00741.hp2 HG01099.hp2 HG01256.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02074.hp1 HG02148.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp1 NA18994.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0213 others(20): Show a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0276	23	380	0.0605	-14	c.-21 others(25): Show c.-2174_-2161delTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1880		chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73456937	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01081.hp2 others(15): Show HG00099.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG02735.hp1 HG02809.hp1 HG03491.hp1 HG03492.hp1 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194	18	200	0.0900	-14	c.343 others(33): Show c.3432+2585_3432+2598delTTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	13/19			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01168.hp2 others(1): Show HG00642.hp1 HG00741.hp2 HG01168.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0004 a0001c0008t0001 a0001c0001t0002 a0001c0001t0004 a0001c0008t0001	a0001c0001t0002g0210 a0001c0001t0004g0003 a0001c0001t0004g0110 others(1): Show a0001c0001t0002g0210 a0001c0001t0004g0003 a0001c0001t0004g0110 a0001c0008t0001g0035	4	216	0.0185	-14	c.635 others(31): Show c.6353+172_6353+185delGTGTGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159472417	CTGGAAAT others(7): Show CTGGAAATTTTCTAT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0002 a0007c0010t0003g0002	1	216	0.0046	-14	c.145 others(31): Show c.145+6144_145+6157delATAGAAAATTTCCA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	3/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159495484	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp2 others(46): Show HG00099.hp1 HG00140.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG02135.hp2 HG02300.hp1 HG02698.hp2 HG03654.hp2 HG03710.hp1 HG04184.hp1 NA18942.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18968.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA19002.hp2 NA19007.hp2 NA19055.hp1 NA19057.hp1 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0009 a0012 a0018 a0020	a0001c0001 a0001c0008 a0002c0002 others(6): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0005c0005 a0009c0015 a0012c0021 a0018c0032 a0020c0014	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0002c0002t0002 a0003c0003t0002 a0005c0005t0002 a0009c0015t0002 a0012c0021t0002 a0018c0032t0002 a0020c0014t0002	a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0079 others(46): Show a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0127 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0008t0002g0159 a0002c0002t0002g0151 a0002c0002t0002g0163 a0002c0002t0002g0211 a0003c0003t0002g0177 a0005c0005t0002g0167 a0005c0005t0002g0173 a0009c0015t0002g0168 a0012c0021t0002g0171 a0018c0032t0002g0154 a0020c0014t0002g0181	49	216	0.2269	-14	c.-2- others(31): Show c.-2-16777_-2-16764delTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159590187	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02300.hp1 others(3): Show HG01257.hp1 HG01258.hp2 HG02300.hp1 HG02622.hp1 NA18941.hp1 NA19072.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0032 a0001c0001 a0018c0032	a0001c0001t0001 a0001c0001t0002 a0018c0032t0002 a0001c0001t0001 a0001c0001t0002 a0018c0032t0002	a0001c0001t0001g0033 a0001c0001t0002g0156 a0001c0001t0002g0157 others(3): Show a0001c0001t0001g0033 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0002g0212 a0018c0032t0002g0154	6	216	0.0278	-14	c.-46 others(33): Show c.-46+26041_-46+26054delTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47224111	ATAGTGAA others(7): Show ATAGTGAAACCCCGT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	412	0.0024	-14	c.466 others(31): Show c.466-2207_466-2194delACGGGGTTTCACTA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	3/3			chr19	TogoVar
BBOF1_chr14_74014349_74071092	74028467	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	386	0.0026	-14	c.286 others(29): Show c.286-685_286-672delCACACACACACACA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27084662	GACAGAAG others(7): Show GACAGAAGGTCCTAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	318	0.0031	-14	c.335 others(31): Show c.335-8503_335-8490delAGAAGGTCCTAAAC	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG01169.hp1 others(12): Show HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01884.hp1 HG01975.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02818.hp1 HG03225.hp2 HG03453.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0002c0002 a0004c0004 a0001c0007 a0002c0002 a0004c0004	a0001c0007t0005 a0002c0002t0002 a0004c0004t0001 a0001c0007t0005 a0002c0002t0002 a0004c0004t0001	a0001c0007t0005g0046 a0002c0002t0002g0117 a0004c0004t0001g0006 others(2): Show a0001c0007t0005g0046 a0002c0002t0002g0117 a0004c0004t0001g0006 a0004c0004t0001g0060 a0004c0004t0001g0118	15	364	0.0412	-14	c.-11 others(29): Show c.-11+528_-11+541delCACACACACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS4_chr15_72681207_72743473	72688046	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(114): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp2 HG00741.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18981.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0004t0001 a0003c0005t0003 a0007c0009t0001	a0001c0001t0001g0171 a0001c0001t0001g0278 a0001c0001t0001g0279 others(113): Show a0001c0001t0001g0171 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0002g0003 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0394 a0001c0001t0002g0395 a0001c0001t0003g0352 a0001c0001t0003g0356 a0001c0001t0006g0385 a0001c0001t0006g0387 a0001c0001t0010g0268 a0001c0004t0001g0359 a0001c0004t0001g0363 a0001c0004t0001g0365 a0001c0004t0001g0374 a0001c0004t0001g0380 a0001c0004t0001g0381 a0001c0004t0001g0383 a0001c0004t0001g0386 a0003c0005t0003g0350 a0003c0005t0003g0351 a0003c0005t0003g0353 a0007c0009t0001g0311	117	398	0.2940	-14	c.24+ others(29): Show c.24+1805_24+1818delAAAAAAAAAAAAAA	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725794	TCTTCCCC others(7): Show TCTTCCCCCATCCCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03540.hp1 HG02809.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0005 a0001c0007 a0003c0005	a0001c0007t0001 a0003c0005t0003 a0001c0007t0001 a0003c0005t0003	a0001c0007t0001g0052 a0003c0005t0003g0350 a0001c0007t0001g0052 a0003c0005t0003g0350	2	398	0.0050	-14	c.587 others(31): Show c.587+1157_587+1170delCCCCCATCCCCCTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725812	CCCCCATC others(7): Show CCCCCATCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	398	0.0025	-14	c.587 others(31): Show c.587+1255_587+1268delTCCCCATCCCCCTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725917	CCCCCTTC others(7): Show CCCCCTTCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19063.hp2 NA19074.hp2 HG01884.hp2 NA19063.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0154 a0001c0001t0002g0165 a0001c0001t0002g0180 a0001c0001t0001g0154 a0001c0001t0002g0165 a0001c0001t0002g0180	3	398	0.0075	-14	c.587 others(31): Show c.587+1285_587+1298delCCCTTTCCCCTTCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72731065	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp2 others(52): Show HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02074.hp2 HG02273.hp2 HG02300.hp2 HG02647.hp2 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 HG04228.hp1 NA18946.hp2 NA18948.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA19002.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19080.hp2 NA19081.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0002c0002 a0008c0012 others(1): Show a0001c0001 a0002c0002 a0008c0012 a0010c0013	a0001c0001t0001 a0002c0002t0001 a0008c0012t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0008c0012t0001 a0010c0013t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(52): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0338 a0001c0001t0001g0349 a0002c0002t0001g0262 a0008c0012t0001g0032 a0010c0013t0001g0031	55	398	0.1382	-14	c.712 others(29): Show c.712-222_712-209delTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02145.hp2 others(6): Show HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0047 a0001c0001t0001 a0001c0001t0003 a0001c0001t0047	a0001c0001t0001g0067 a0001c0001t0003g0028 a0001c0001t0003g0029 others(4): Show a0001c0001t0001g0067 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0047g0055	9	398	0.0226	-14	c.386 others(31): Show c.386+1765_386+1778delTTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33294339	ATCTATCT others(7): Show ATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18944.hp1 NA18956.hp2 others(4): Show HG01975.hp1 NA18944.hp1 NA18956.hp2 NA18957.hp2 NA19054.hp1 NA19056.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0002g0048 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0002g0048 a0001c0001t0002g0112 a0001c0001t0003g0009 a0001c0001t0006g0053 a0002c0002t0001g0193	7	268	0.0261	-14	c.101 others(35): Show c.1016+20387_1016+20400delATCTATCTATCTCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar

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