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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
BATF2_chr11_64982945_65001971	65000934	C C	CTTCTTTC others(6): Show CTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	404	0.0025	13	c.-40 others(24): Show c.-4021_-4020insAAGAAAGAAAGAA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		3964		chr11	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	462	0.0022	13	c.196 others(28): Show c.196-989_196-988insCTTTCTTTCTTTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18969.hp1 HG02109.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0216 a0001c0001t0001g0194 a0001c0001t0001g0216	2	462	0.0043	13	c.196 others(28): Show c.196-989_196-988insCTTTCTTTCTTTC	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BATF_chr14_75517469_75551992	75539424	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG02622.hp1 others(7): Show HG01074.hp1 HG01243.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02897.hp1 HG02965.hp1 HG03195.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0073 a0001c0001t0001g0109 a0001c0002t0001g0012 others(5): Show a0001c0001t0001g0073 a0001c0001t0001g0109 a0001c0002t0001g0012 a0001c0002t0001g0071 a0001c0002t0001g0111 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0135	10	376	0.0266	13	c.169 others(30): Show c.169-7023_169-7011dupTTTTTTTTTTTTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BATF_chr14_75517469_75551992	75550079	T T	TTTCCTTT others(6): Show TTTCCTTTCTTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0069 a0001c0001t0007g0069	1	376	0.0027	13	c.34 others(24): Show c.3408_*3409insTTCCTTTCTTATC	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		3088		chr14	TogoVar
BAX_chr19_48949875_48966798	48954325	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03654.hp1 HG02886.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0052 a0001c0001t0001g0059	2	418	0.0048	13	c.-60 others(22): Show c.-604_-603insAAAAAAAAAAAAA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding		549		chr19	TogoVar
BAX_chr19_48949875_48966798	48959992	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	418	0.0024	13	c.370 others(28): Show c.370-806_370-805insAAAAAAAAAAAAA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34751700	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02723.hp2 HG02738.hp2 others(2): Show HG02132.hp2 HG02723.hp2 HG02738.hp2 NA19010.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0082 others(2): Show a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0082 a0001c0002t0002g0091 a0001c0002t0002g0098	5	380	0.0132	13	c.18 others(24): Show c.1807_*1808insTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1030		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34751700	T T	TTAAAAAA others(6): Show TTAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0051 a0002c0006t0002g0051	1	380	0.0026	13	c.18 others(24): Show c.1807_*1808insTTTTTTTTTTTTA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1030		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34759184	T T	TTTTGTTT others(6): Show TTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0344 a0001c0004t0004g0344	1	380	0.0026	13	c.424 others(30): Show c.4244-339_4244-338insCAAAAAAAACAAA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	24/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34759184	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01106.hp2 others(29): Show HG00140.hp1 HG00408.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01981.hp1 HG02015.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp2 HG03017.hp2 HG03453.hp2 HG03491.hp2 HG03704.hp1 HG04115.hp2 HG04204.hp1 NA18612.hp1 NA18940.hp2 NA18947.hp2 NA18955.hp2 NA18980.hp2 NA18982.hp2 NA19043.hp1 NA19056.hp2 NA19064.hp2 NA19070.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0005c0008	a0001c0002t0003 a0001c0004t0004 a0001c0005t0006 others(1): Show a0001c0002t0003 a0001c0004t0004 a0001c0005t0006 a0005c0008t0003	a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 others(29): Show a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0159 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0183 a0001c0004t0004g0150 a0001c0004t0004g0340 a0001c0004t0004g0342 a0001c0004t0004g0346 a0001c0004t0004g0347 a0001c0004t0004g0349 a0001c0004t0004g0350 a0001c0004t0004g0351 a0001c0004t0004g0352 a0001c0004t0004g0353 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0358 a0001c0004t0004g0359 a0001c0004t0004g0360 a0001c0004t0004g0361 a0001c0004t0004g0363 a0001c0004t0004g0379 a0001c0005t0006g0201 a0005c0008t0003g0178	32	380	0.0842	13	c.424 others(30): Show c.4244-339_4244-338insCAAAAAAAAAAAA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	24/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34787363	A A	AAAAAAAA others(6): Show AAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(89): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18982.hp1 NA18989.hp2 NA18994.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0005 a0001c0004t0004	a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0002g0058 others(89): Show 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 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0126 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0003g0001 a0001c0002t0003g0060 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0157 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0004g0367 a0001c0003t0005g0004 a0001c0003t0005g0193 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0004t0004g0033 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0004g0044 a0001c0004t0004g0045 a0001c0004t0004g0150	92	380	0.2421	13	c.151 others(32): Show c.1511-1143_1511-1142insCTTTTCTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	12/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAAA others(6): Show AAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00639.hp2 others(55): Show HG00423.hp1 HG00597.hp2 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02738.hp1 HG02818.hp2 HG03490.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18941.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18999.hp1 NA19005.hp1 NA19056.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA20300.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0008	a0001c0001t0001 a0001c0002t0003 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0002t0003 a0001c0003t0005 a0001c0004t0004 a0005c0008t0003	a0001c0001t0001g0023 a0001c0002t0003g0001 a0001c0002t0003g0141 others(55): Show a0001c0001t0001g0023 a0001c0002t0003g0001 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0152 a0001c0002t0003g0153 a0001c0002t0003g0154 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0170 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0177 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0192 a0001c0003t0005g0193 a0001c0003t0005g0194 a0001c0003t0005g0195 a0001c0003t0005g0368 a0001c0003t0005g0369 a0001c0003t0005g0370 a0001c0003t0005g0371 a0001c0003t0005g0372 a0001c0003t0005g0373 a0001c0003t0005g0374 a0001c0003t0005g0375 a0001c0003t0005g0377 a0001c0003t0005g0378 a0001c0004t0004g0003 a0001c0004t0004g0033 a0001c0004t0004g0350 a0005c0008t0003g0178	58	380	0.1526	13	c.114 others(30): Show c.114-4181_114-4180insCTTTCTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73497065	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01517.hp2 HG02738.hp2 others(1): Show HG01361.hp2 HG01517.hp2 HG02738.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0192 others(1): Show a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0192 a0001c0001t0005g0196	4	200	0.0200	13	c.571 others(30): Show c.571+1419_571+1431dupTTTTTTTTTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding	4/19			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG01515.hp1 others(12): Show HG01109.hp1 HG01261.hp1 HG01515.hp1 HG02040.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02698.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 NA18946.hp1 NA19057.hp2 NA19072.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0016	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0006c0016 a0016c0026	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0006c0016t0002 a0016c0026t0001	a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0057 others(12): Show a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0101 a0001c0001t0001g0104 a0002c0002t0001g0074 a0002c0002t0001g0092 a0002c0002t0001g0128 a0003c0003t0001g0056 a0004c0004t0001g0005 a0004c0004t0001g0070 a0005c0005t0001g0094 a0006c0006t0001g0007 a0006c0016t0002g0146 a0016c0026t0001g0075	15	216	0.0694	13	c.-2- others(30): Show c.-2-13012_-2-13000dupTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159607561	T T	TGAAAGCA others(6): Show TGAAAGCAATGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0001 a0001c0008 a0001c0020 others(27): Show a0001c0001 a0001c0008 a0001c0020 a0001c0023 a0001c0029 a0002c0002 a0002c0007 a0002c0018 a0002c0028 a0003c0003 a0003c0013 a0004c0004 a0004c0009 a0005c0005 a0006c0006 a0007c0010 a0008c0011 a0009c0015 a0010c0030 a0011c0031 a0012c0021 a0013c0022 a0014c0024 a0015c0025 a0016c0026 a0017c0027 a0018c0032 a0019c0017 a0020c0014 a0021c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0008t0001 a0001c0008t0002 a0001c0020t0001 a0001c0023t0002 a0001c0029t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0007t0001 a0002c0007t0002 a0002c0018t0001 a0002c0028t0002 a0003c0003t0001 a0003c0003t0002 a0003c0013t0006 a0004c0004t0001 a0004c0004t0002 a0004c0009t0001 a0005c0005t0001 a0005c0005t0002 a0006c0006t0001 a0006c0006t0002 a0007c0010t0001 a0007c0010t0003 a0008c0011t0001 a0009c0015t0002 a0010c0030t0001 a0011c0031t0001 a0012c0021t0002 a0013c0022t0001 a0014c0024t0001 a0015c0025t0001 a0016c0026t0001 a0017c0027t0001 a0018c0032t0002 a0019c0017t0001 a0020c0014t0002 a0021c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(198): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0001 a0001c0001t0004g0003 a0001c0001t0004g0110 a0001c0001t0005g0130 a0001c0001t0007g0086 a0001c0001t0008g0131 a0001c0008t0001g0035 a0001c0008t0001g0060 a0001c0008t0002g0159 a0001c0008t0002g0179 a0001c0020t0001g0046 a0001c0023t0002g0147 a0001c0029t0001g0112 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0103 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0002g0151 a0002c0002t0002g0163 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0201 a0002c0002t0002g0206 a0002c0002t0002g0211 a0002c0002t0005g0129 a0002c0007t0001g0045 a0002c0007t0002g0185 a0002c0007t0002g0215 a0002c0018t0001g0066 a0002c0028t0002g0216 a0003c0003t0001g0009 a0003c0003t0001g0014 a0003c0003t0001g0031 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0082 a0003c0003t0002g0177 a0003c0003t0002g0182 a0003c0013t0006g0058 a0004c0004t0001g0005 a0004c0004t0001g0013 a0004c0004t0001g0070 a0004c0004t0001g0076 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0002g0203 a0004c0009t0001g0010 a0004c0009t0001g0099 a0004c0009t0001g0100 a0005c0005t0001g0034 a0005c0005t0001g0042 a0005c0005t0001g0069 a0005c0005t0001g0094 a0005c0005t0002g0167 a0005c0005t0002g0173 a0005c0005t0002g0202 a0006c0006t0001g0007 a0006c0006t0001g0081 a0006c0006t0002g0149 a0007c0010t0001g0114 a0007c0010t0001g0115 a0007c0010t0003g0002 a0008c0011t0001g0052 a0008c0011t0001g0080 a0009c0015t0002g0168 a0010c0030t0001g0039 a0011c0031t0001g0108 a0012c0021t0002g0171 a0013c0022t0001g0027 a0014c0024t0001g0088 a0015c0025t0001g0116 a0016c0026t0001g0075 a0017c0027t0001g0106 a0018c0032t0002g0154 a0019c0017t0001g0006 a0020c0014t0002g0181 a0021c0012t0001g0073	201	216	0.9306	13	c.-46 others(30): Show c.-46+8680_-46+8681insCTCCATTGCTTTC	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	1/36			chr2	TogoVar
BBLN_chr9_128155265_128168924	128161087	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(103): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG01109.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG03130.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0002g0045	106	396	0.2677	13	c.79+ others(26): Show c.79+609_79+610insAAAAAAAAAAAAA	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
BBOF1_chr14_74014349_74071092	74027911	T T	TACAAGAA others(6): Show TACAAGAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	386	0.0026	13	c.286 others(30): Show c.286-1272_286-1271insCAAGAAAAAAAAA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74035584	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0372 a0006c0005t0005g0372	1	386	0.0026	13	c.495 others(30): Show c.495+1429_495+1441dupTTTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0275 a0001c0002t0001g0276	2	318	0.0063	13	c.220 others(28): Show c.220-138_220-137insAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(6): Show CACAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	398	0.0025	13	c.44 others(24): Show c.4408_*4409insTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480355	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp1 others(7): Show HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02818.hp1 HG03225.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0078 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0217	10	398	0.0251	13	c.44 others(24): Show c.4405_*4406insGTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4029		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687123	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	398	0.0025	13	c.24+ others(26): Show c.24+872_24+873insTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15			chr15	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03017.hp2 HG06807.hp2 others(5): Show HG01070.hp2 HG03017.hp2 HG06807.hp2 NA18962.hp1 NA18986.hp2 NA18992.hp1 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0007g0021	8	398	0.0201	13	c.24+ others(26): Show c.24+883_24+884insTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72710195	G G	GTTCTTTT others(6): Show GTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	398	0.0025	13	c.156 others(28): Show c.156+418_156+419insCTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725855	C C	CCCCTTCC others(6): Show CCCCTTCCTCCTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01256.hp1 HG01168.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0218 a0002c0002t0001g0156 a0002c0002t0001g0218	2	398	0.0050	13	c.587 others(30): Show c.587+1203_587+1204insTTCCTCCTTTCCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169489851	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0155 a0001c0001t0007g0155	1	398	0.0025	13	c.386 others(30): Show c.386+1766_386+1778dupTTTTTTTTTTTTT	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33129825	T T	TGCTGCCT others(6): Show TGCTGCCTGGTGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0012g0212 a0001c0001t0012g0213	2	268	0.0075	13	c.-22 others(22): Show c.-224_-212dupGCCTGGTGGGGCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/23	16411	INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565839	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03486.hp1 HG01255.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0239 a0002c0002t0001g0130 a0001c0001t0001g0239 a0002c0002t0001g0130	2	268	0.0075	13	c.252 others(34): Show c.2521+31663_2521+31664insTATATATATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33565844	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0003 a0013c0019t0003	a0013c0019t0003g0250 a0013c0019t0003g0250	1	268	0.0037	13	c.252 others(34): Show c.2521+31668_2521+31669insATATATATATATA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BBS9_chr7_33124564_33611069	33590459	G G	GTTTTTTT others(6): Show GTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0103 a0010c0014t0001g0103	1	268	0.0037	13	c.252 others(34): Show c.2522-14399_2522-14398insGTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33590460	T T	TTTTTTTG others(6): Show TTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01074.hp2 others(51): Show HG00558.hp1 HG00642.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02056.hp1 HG02074.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18522.hp2 NA18945.hp2 NA18946.hp2 NA18955.hp2 NA18959.hp1 NA18980.hp1 NA18993.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19063.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0015	a0001c0001 a0001c0013 a0001c0023 others(7): Show a0001c0001 a0001c0013 a0001c0023 a0002c0002 a0003c0003 a0005c0012 a0006c0005 a0007c0006 a0008c0007 a0015c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0013t0010 a0001c0023t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0019 a0003c0003t0001 a0005c0012t0007 a0006c0005t0007 a0007c0006t0001 a0008c0007t0001 a0015c0015t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(51): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0008g0209 a0001c0001t0010g0117 a0001c0001t0010g0170 a0001c0001t0018g0171 a0001c0013t0010g0260 a0001c0023t0001g0168 a0002c0002t0001g0137 a0002c0002t0001g0159 a0002c0002t0001g0194 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0019g0043 a0003c0003t0001g0047 a0003c0003t0001g0060 a0003c0003t0001g0146 a0003c0003t0001g0207 a0003c0003t0001g0208 a0005c0012t0007g0235 a0006c0005t0007g0128 a0007c0006t0001g0115 a0008c0007t0001g0150 a0015c0015t0001g0100	54	268	0.2015	13	c.252 others(34): Show c.2522-14399_2522-14398insGTTTTTGTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33590466	T T	TGTTTTTG others(6): Show TGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0003 a0013c0019t0003	a0013c0019t0003g0250 a0013c0019t0003g0250	1	268	0.0037	13	c.252 others(34): Show c.2522-14399_2522-14398insGTTTTTGTTTTTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22			chr7	TogoVar
BCAR1_chr16_75223181_75256624	75223696	G G	GGCGCTTC others(6): Show GGCGCTTCTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	392	0.0026	13	c.58 others(24): Show c.5814_*5815insAAACAAGAAGCGC	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding		4484		chr16	TogoVar
BCAR3_chr1_93556741_93686837	93675925	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02717.hp1 others(7): Show HG02145.hp2 HG02630.hp2 HG02717.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG04199.hp2 NA18906.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0014 a0004c0005 a0005c0010	a0001c0001t0002 a0001c0002t0001 a0002c0003t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0002 a0002c0014t0001 a0004c0005t0006 a0005c0010t0002	a0001c0001t0002g0192 a0001c0002t0001g0013 a0002c0003t0002g0189 others(7): Show a0001c0001t0002g0192 a0001c0002t0001g0013 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0193 a0002c0003t0002g0198 a0002c0014t0001g0064 a0004c0005t0006g0186 a0005c0010t0002g0187	10	202	0.0495	13	c.-11 others(28): Show c.-11-997_-11-985dupTTTTTTTTTTTTT	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/11			chr1	TogoVar
BCAS1_chr20_53938541_54075594	53955787	G G	GGGTATAA others(6): Show GGGTATAAATAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(251): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0012 a0013 a0014 a0015 a0016 a0018 a0020 a0021 a0023 a0024 a0025 a0028 a0029 a0030 a0031 a0033 a0034 a0035 a0036 a0037	a0001c0001 a0001c0007 a0001c0034 others(31): Show a0001c0001 a0001c0007 a0001c0034 a0002c0002 a0003c0003 a0003c0028 a0003c0030 a0004c0004 a0005c0005 a0005c0018 a0006c0006 a0007c0008 a0009c0009 a0012c0016 a0012c0031 a0013c0013 a0014c0014 a0015c0015 a0016c0019 a0018c0020 a0020c0023 a0021c0025 a0023c0029 a0024c0033 a0025c0026 a0028c0040 a0029c0041 a0030c0046 a0031c0045 a0033c0044 a0034c0043 a0035c0038 a0036c0039 a0037c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(100): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0041 a0001c0001t0049 a0001c0001t0051 a0001c0001t0068 a0001c0007t0001 a0001c0007t0004 a0001c0007t0007 a0001c0007t0014 a0001c0007t0015 a0001c0007t0048 a0001c0007t0050 a0001c0034t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0035 a0002c0002t0037 a0002c0002t0042 a0002c0002t0053 a0002c0002t0055 a0002c0002t0057 a0002c0002t0064 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0028 a0003c0003t0044 a0003c0028t0013 a0003c0030t0004 a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0004t0016 a0004c0004t0019 a0004c0004t0038 a0004c0004t0065 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0005c0005t0052 a0005c0005t0056 a0005c0018t0001 a0006c0006t0012 a0006c0006t0018 a0006c0006t0025 a0006c0006t0026 a0006c0006t0027 a0006c0006t0029 a0006c0006t0066 a0007c0008t0009 a0009c0009t0011 a0009c0009t0035 a0012c0016t0009 a0012c0016t0010 a0012c0031t0005 a0013c0013t0002 a0013c0013t0004 a0013c0013t0047 a0013c0013t0059 a0014c0014t0003 a0015c0015t0027 a0015c0015t0046 a0016c0019t0025 a0016c0019t0033 a0018c0020t0005 a0020c0023t0036 a0021c0025t0033 a0023c0029t0005 a0024c0033t0003 a0025c0026t0003 a0028c0040t0028 a0029c0041t0060 a0030c0046t0001 a0031c0045t0003 a0033c0044t0003 a0034c0043t0003 a0035c0038t0038 a0036c0039t0003 a0037c0047t0002	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(247): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0245 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0153 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0003g0165 a0001c0001t0004g0122 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0330 a0001c0001t0004g0336 a0001c0001t0004g0344 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0351 a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0011g0025 a0001c0001t0014g0322 a0001c0001t0015g0326 a0001c0001t0015g0333 a0001c0001t0015g0343 a0001c0001t0015g0345 a0001c0001t0015g0356 a0001c0001t0022g0166 a0001c0001t0025g0151 a0001c0001t0030g0247 a0001c0001t0030g0249 a0001c0001t0030g0250 a0001c0001t0031g0168 a0001c0001t0031g0251 a0001c0001t0031g0255 a0001c0001t0041g0052 a0001c0001t0049g0338 a0001c0001t0051g0315 a0001c0001t0068g0359 a0001c0007t0001g0335 a0001c0007t0004g0313 a0001c0007t0004g0314 a0001c0007t0004g0331 a0001c0007t0004g0332 a0001c0007t0004g0337 a0001c0007t0004g0342 a0001c0007t0007g0054 a0001c0007t0014g0328 a0001c0007t0014g0329 a0001c0007t0014g0341 a0001c0007t0015g0319 a0001c0007t0048g0299 a0001c0007t0050g0321 a0001c0034t0013g0010 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0095 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0140 a0002c0002t0001g0147 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0355 a0002c0002t0002g0107 a0002c0002t0002g0194 a0002c0002t0002g0212 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0003g0290 a0002c0002t0006g0094 a0002c0002t0006g0112 a0002c0002t0006g0265 a0002c0002t0006g0266 a0002c0002t0006g0269 a0002c0002t0019g0195 a0002c0002t0021g0303 a0002c0002t0022g0096 a0002c0002t0022g0098 a0002c0002t0022g0131 a0002c0002t0024g0132 a0002c0002t0035g0007 a0002c0002t0037g0004 a0002c0002t0042g0053 a0002c0002t0053g0138 a0002c0002t0055g0117 a0002c0002t0057g0091 a0002c0002t0064g0139 a0003c0003t0001g0311 a0003c0003t0002g0258 a0003c0003t0004g0167 a0003c0003t0004g0206 a0003c0003t0005g0013 a0003c0003t0005g0021 a0003c0003t0005g0022 a0003c0003t0005g0033 a0003c0003t0005g0036 a0003c0003t0005g0039 a0003c0003t0005g0044 a0003c0003t0005g0047 a0003c0003t0005g0051 a0003c0003t0005g0056 a0003c0003t0005g0057 a0003c0003t0005g0060 a0003c0003t0005g0061 a0003c0003t0005g0065 a0003c0003t0005g0067 a0003c0003t0007g0001 a0003c0003t0009g0182 a0003c0003t0011g0055 a0003c0003t0013g0017 a0003c0003t0013g0045 a0003c0003t0014g0312 a0003c0003t0014g0340 a0003c0003t0028g0016 a0003c0003t0028g0032 a0003c0003t0044g0041 a0003c0028t0013g0018 a0003c0030t0004g0300 a0004c0004t0001g0184 a0004c0004t0001g0287 a0004c0004t0003g0080 a0004c0004t0003g0084 a0004c0004t0003g0087 a0004c0004t0003g0090 a0004c0004t0003g0105 a0004c0004t0003g0109 a0004c0004t0003g0135 a0004c0004t0003g0136 a0004c0004t0003g0137 a0004c0004t0003g0141 a0004c0004t0003g0156 a0004c0004t0003g0157 a0004c0004t0003g0158 a0004c0004t0003g0160 a0004c0004t0003g0161 a0004c0004t0003g0162 a0004c0004t0003g0163 a0004c0004t0003g0197 a0004c0004t0003g0198 a0004c0004t0003g0288 a0004c0004t0006g0196 a0004c0004t0016g0293 a0004c0004t0019g0192 a0004c0004t0019g0353 a0004c0004t0038g0159 a0004c0004t0065g0106 a0005c0005t0001g0086 a0005c0005t0001g0103 a0005c0005t0001g0108 a0005c0005t0001g0204 a0005c0005t0001g0274 a0005c0005t0001g0276 a0005c0005t0001g0282 a0005c0005t0002g0102 a0005c0005t0003g0104 a0005c0005t0006g0121 a0005c0005t0006g0214 a0005c0005t0006g0264 a0005c0005t0006g0273 a0005c0005t0006g0275 a0005c0005t0006g0277 a0005c0005t0006g0278 a0005c0005t0006g0279 a0005c0005t0006g0280 a0005c0005t0006g0281 a0005c0005t0006g0283 a0005c0005t0052g0268 a0005c0005t0056g0267 a0005c0018t0001g0085 a0005c0018t0001g0093 a0005c0018t0001g0118 a0006c0006t0012g0069 a0006c0006t0012g0178 a0006c0006t0018g0143 a0006c0006t0018g0301 a0006c0006t0018g0302 a0006c0006t0018g0320 a0006c0006t0018g0323 a0006c0006t0025g0173 a0006c0006t0025g0176 a0006c0006t0026g0042 a0006c0006t0026g0059 a0006c0006t0026g0064 a0006c0006t0027g0023 a0006c0006t0029g0144 a0006c0006t0029g0334 a0006c0006t0029g0347 a0006c0006t0066g0172 a0007c0008t0009g0246 a0009c0009t0011g0014 a0009c0009t0011g0031 a0009c0009t0011g0038 a0009c0009t0011g0040 a0009c0009t0011g0046 a0009c0009t0035g0034 a0012c0016t0009g0306 a0012c0016t0010g0190 a0012c0031t0005g0043 a0013c0013t0002g0155 a0013c0013t0004g0339 a0013c0013t0047g0350 a0013c0013t0059g0238 a0014c0014t0003g0354 a0015c0015t0027g0037 a0015c0015t0027g0058 a0015c0015t0046g0066 a0016c0019t0025g0089 a0016c0019t0033g0083 a0018c0020t0005g0062 a0018c0020t0005g0063 a0020c0023t0036g0327 a0020c0023t0036g0352 a0021c0025t0033g0309 a0021c0025t0033g0310 a0023c0029t0005g0012 a0024c0033t0003g0177 a0025c0026t0003g0154 a0028c0040t0028g0006 a0029c0041t0060g0088 a0030c0046t0001g0286 a0031c0045t0003g0270 a0033c0044t0003g0164 a0034c0043t0003g0120 a0035c0038t0038g0110 a0036c0039t0003g0111 a0037c0047t0002g0119	254	364	0.6978	13	c.155 others(32): Show c.1551+1644_1551+1645insTTCTATTTATACC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp2 HG03516.hp2 others(2): Show HG03139.hp1 HG03471.hp2 HG03516.hp2 NA18959.hp1 NA18975.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0007 a0010c0011t0020 a0010c0011t0054 a0001c0001t0007 a0010c0011t0020 a0010c0011t0054	a0001c0001t0007g0015 a0001c0001t0007g0029 a0010c0011t0020g0202 others(2): Show a0001c0001t0007g0015 a0001c0001t0007g0029 a0010c0011t0020g0202 a0010c0011t0020g0208 a0010c0011t0054g0186	5	364	0.0137	13	c.143 others(32): Show c.143-12937_143-12936insTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54070884	C C	CCTTTTAC others(6): Show CCTTTTACCTTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(43): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG01069.hp1 HG01081.hp1 HG01516.hp1 HG02027.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18949.hp1 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18977.hp2 NA18981.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19006.hp1 NA19011.hp1 NA19062.hp2 NA19066.hp2 NA19081.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0013 a0014 a0020	a0001c0001 a0001c0007 a0002c0002 others(6): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0013c0013 a0014c0014 a0020c0023	a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 others(17): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0049 a0001c0001t0051 a0001c0007t0001 a0001c0007t0004 a0001c0007t0014 a0001c0007t0015 a0001c0007t0050 a0002c0002t0001 a0003c0003t0001 a0003c0003t0014 a0004c0004t0019 a0006c0006t0018 a0006c0006t0029 a0013c0013t0004 a0013c0013t0047 a0014c0014t0003 a0020c0023t0036	a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 others(43): Show a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0330 a0001c0001t0004g0336 a0001c0001t0004g0344 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0351 a0001c0001t0014g0322 a0001c0001t0015g0326 a0001c0001t0015g0333 a0001c0001t0015g0343 a0001c0001t0015g0345 a0001c0001t0015g0356 a0001c0001t0049g0338 a0001c0001t0051g0315 a0001c0007t0001g0335 a0001c0007t0004g0313 a0001c0007t0004g0314 a0001c0007t0004g0331 a0001c0007t0004g0332 a0001c0007t0004g0337 a0001c0007t0004g0342 a0001c0007t0014g0329 a0001c0007t0014g0341 a0001c0007t0015g0319 a0001c0007t0050g0321 a0002c0002t0001g0100 a0002c0002t0001g0355 a0003c0003t0001g0311 a0003c0003t0014g0312 a0003c0003t0014g0340 a0004c0004t0019g0353 a0006c0006t0018g0320 a0006c0006t0018g0323 a0006c0006t0029g0334 a0006c0006t0029g0347 a0013c0013t0004g0339 a0013c0013t0047g0350 a0014c0014t0003g0354 a0020c0023t0036g0327 a0020c0023t0036g0352	46	364	0.1264	13	c.-45 others(22): Show c.-458_-457insATGAAGGTAAAAG	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding		291		chr20	TogoVar
BCAS3_chr17_60672851_61397831	60700185	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	74	0.0135	13	c.215 others(30): Show c.215-9034_215-9033insAAAAAAAAAAAAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	60701808	A A	ACAAAAAA others(6): Show ACAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02615.hp2 others(12): Show HG02145.hp2 HG02451.hp1 HG02615.hp2 HG02818.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0008t0002	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 others(12): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0001 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0004t0002g0072 a0001c0008t0002g0062	15	74	0.2027	13	c.215 others(30): Show c.215-7411_215-7410insCAAAAAAAAAAAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	60701817	A A	AAAAGAAA others(6): Show AAAAGAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp1 HG03041.hp1 others(4): Show HG01891.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp2 NA18906.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0046 others(4): Show a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0044 a0001c0004t0002g0050	7	74	0.0946	13	c.215 others(30): Show c.215-7399_215-7398insGAAAAAAAAGAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60731780	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0052 a0002c0003t0001g0052	1	74	0.0135	13	c.322 others(32): Show c.322-15414_322-15402dupTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61059063	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0025 a0003c0001t0001g0025	1	74	0.0135	13	c.203 others(34): Show c.2030-15832_2030-15820dupTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61192246	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02970.hp1 others(4): Show HG01891.hp2 HG02486.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 others(2): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0002c0007	a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 others(2): Show a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0005t0001 a0002c0007t0001	a0001c0002t0001g0042 a0001c0004t0001g0049 a0002c0003t0001g0052 others(4): Show a0001c0002t0001g0042 a0001c0004t0001g0049 a0002c0003t0001g0052 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0007t0001g0004	7	74	0.0946	13	c.242 others(36): Show c.2425+107686_2425+107698dupAAAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61254777	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01256.hp1 others(27): Show HG00639.hp2 HG01099.hp2 HG01256.hp1 HG01256.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(2): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0003c0001	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0002c0005t0001 a0003c0001t0001 a0003c0001t0002	a0001c0002t0001g0042 a0001c0002t0001g0059 a0001c0002t0001g0060 others(27): Show a0001c0002t0001g0042 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0002g0053 a0001c0002t0002g0057 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0058 a0001c0004t0002g0035 a0001c0004t0002g0050 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0037 a0002c0003t0001g0040 a0002c0005t0001g0020 a0002c0005t0001g0051 a0002c0005t0001g0073 a0003c0001t0001g0002 a0003c0001t0001g0003 a0003c0001t0001g0006 a0003c0001t0001g0008 a0003c0001t0001g0009 a0003c0001t0001g0010 a0003c0001t0001g0011 a0003c0001t0001g0012 a0003c0001t0001g0031 a0003c0001t0002g0032	30	74	0.4054	13	c.242 others(36): Show c.2426-113538_2426-113537insAAAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61298822	A A	ATTTATTT others(6): Show ATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	74	0.0135	13	c.242 others(34): Show c.2426-69503_2426-69502insTATTTATTTATTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50796487	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03209.hp2 HG01358.hp1 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0094 a0001c0003t0001g0095	2	270	0.0074	13	c.90+ others(28): Show c.90+1315_90+1316insATATATTTTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAT1_chr12_24805024_24954101	24844894	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0178 a0001c0001t0069g0178	1	322	0.0031	13	c.675 others(30): Show c.675-2683_675-2671dupTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887061	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02258.hp1 HG02155.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0089 a0001c0001t0022 a0001c0001t0089	a0001c0001t0022g0245 a0001c0001t0089g0255 a0001c0001t0022g0245 a0001c0001t0089g0255	2	322	0.0062	13	c.280 others(30): Show c.280-5663_280-5651dupTTTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887080	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18990.hp2 HG00738.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0177 a0001c0001t0010g0311 a0001c0001t0002g0177 a0001c0001t0010g0311	2	322	0.0062	13	c.280 others(30): Show c.280-5670_280-5669insATTTTTTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)