JoGo: Joint Open Genome and Omics Platform

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
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0023 a0001c0001t0010g0023	1	436	0.0023	11	c.15 others(22): Show c.1586_*1587insAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANF2_chr20_17694966_17740871	17707382	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	400	0.0025	11	c.-16 others(30): Show c.-167+7335_-167+7336insAAAAAAAAAAA	BANF2	ENSG00000125888.15	transcript	ENST00000246090.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
BANK1_chr4_101785730_102079812	101839937	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0245 a0006c0007t0001g0245	1	284	0.0035	11	c.469 others(28): Show c.469+9770_469+9780dupTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	87976474	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG02015.hp1 others(13): Show HG00099.hp1 HG00741.hp1 HG02015.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp2 HG02300.hp2 HG03041.hp1 HG03239.hp1 HG03654.hp2 HG03831.hp2 HG04199.hp2 NA18965.hp1 NA19030.hp1 NA19085.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0011 a0002c0003 others(1): Show a0001c0005 a0001c0011 a0002c0003 a0002c0021	a0001c0005t0003 a0001c0011t0005 a0002c0003t0003 others(3): Show a0001c0005t0003 a0001c0011t0005 a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 a0002c0021t0003	a0001c0005t0003g0296 a0001c0005t0003g0297 a0001c0005t0003g0312 others(13): Show a0001c0005t0003g0296 a0001c0005t0003g0297 a0001c0005t0003g0312 a0001c0011t0005g0346 a0002c0003t0003g0294 a0002c0003t0003g0318 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0328 a0002c0003t0003g0331 a0002c0003t0003g0343 a0002c0003t0009g0291 a0002c0003t0010g0274 a0002c0003t0010g0333 a0002c0021t0003g0340	16	352	0.0455	11	c.70+ others(26): Show c.70+1294_70+1304dupTTTTTTTTTTT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	87987712	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01099.hp1 others(10): Show HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01361.hp2 HG01884.hp2 HG02300.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG06807.hp2 NA18939.hp2 NA18984.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0020 a0001c0004 a0001c0010 a0001c0020	a0001c0004t0004 a0001c0010t0007 a0001c0020t0007 a0001c0004t0004 a0001c0010t0007 a0001c0020t0007	a0001c0004t0004g0062 a0001c0004t0004g0115 a0001c0004t0004g0125 others(10): Show a0001c0004t0004g0062 a0001c0004t0004g0115 a0001c0004t0004g0125 a0001c0004t0004g0132 a0001c0004t0004g0136 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0142 a0001c0004t0004g0145 a0001c0004t0004g0148 a0001c0004t0004g0167 a0001c0010t0007g0127 a0001c0020t0007g0147	13	352	0.0369	11	c.362 others(28): Show c.362+3470_362+3480dupAAAAAAAAAAA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88081403	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02897.hp2 HG02818.hp1 HG02897.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0109 a0001c0008t0001g0110	2	352	0.0057	11	c.47 others(22): Show c.4742_*4743insAAAAAAAAAAA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding		4088		chr16	TogoVar
BARD1_chr2_214720646_214814683	214751151	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0249 a0003c0005t0006g0249	1	362	0.0028	11	c.167 others(30): Show c.1677+1295_1677+1296insAAAAAAATATA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARD1_chr2_214720646_214814683	214751151	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0008 a0013c0017t0008	a0013c0017t0008g0179 a0013c0017t0008g0179	1	362	0.0028	11	c.167 others(30): Show c.1677+1295_1677+1296insAAAAAAAAATA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18987.hp2 NA18994.hp1 others(1): Show NA18939.hp1 NA18987.hp2 NA18994.hp1 NA19003.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0007 a0005c0007t0002 a0001c0001t0002 a0001c0001t0007 a0005c0007t0002	a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0007g0103 others(1): Show a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0007g0103 a0005c0007t0002g0052	4	446	0.0090	11	c.-23 others(22): Show c.-2310_-2309insTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BARX1_chr9_93946627_93960355	93950440	T T	TCCCACCG others(4): Show TCCCACCGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	408	0.0025	11	c.17 others(22): Show c.1723_*1724insGGTGCGGTGGG	BARX1	ENSG00000131668.14	transcript	ENST00000253968.11	protein_coding		1186		chr9	TogoVar
BARX1_chr9_93946627_93960355	93950450	A A	ACCCCCCC others(4): Show ACCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01257.hp2 HG01975.hp2 others(13): Show HG00733.hp2 HG01257.hp2 HG01975.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02615.hp2 HG02717.hp1 HG03098.hp1 NA18988.hp1 NA18990.hp2 NA19043.hp1 NA19067.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0006 a0001c0002t0002g0002 a0001c0001t0002g0006 a0001c0002t0002g0002	16	408	0.0392	11	c.17 others(22): Show c.1713_*1714insGGGGGGGGGGG	BARX1	ENSG00000131668.14	transcript	ENST00000253968.11	protein_coding		1176		chr9	TogoVar
BASP1_chr5_17212631_17281834	17212996	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0242 a0001c0004t0002g0242	1	370	0.0027	11	c.-48 others(22): Show c.-4824_-4823insAAAAAAAAAAA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		4634		chr5	TogoVar
BASP1_chr5_17212631_17281834	17267817	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0258 a0001c0001t0020g0258	1	370	0.0027	11	c.-9- others(26): Show c.-9-7377_-9-7367dupTTTTTTTTTTT	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 NA18975.hp2 HG03710.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0068 a0001c0001t0001g0006 a0001c0001t0001g0068	2	462	0.0043	11	c.53 others(22): Show c.5370_*5371insAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF_chr14_75517469_75551992	75539424	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18906.hp2 NA19005.hp2 HG01496.hp1 NA18906.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0026 a0001c0001t0001g0045	3	376	0.0080	11	c.169 others(28): Show c.169-7021_169-7011dupTTTTTTTTTTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BATF_chr14_75517469_75551992	75550058	C C	CTTCCTTT others(4): Show CTTCCTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	376	0.0027	11	c.33 others(22): Show c.3387_*3388insTTCCTTTTTTT	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		3067		chr14	TogoVar
BAX_chr19_48949875_48966798	48954325	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01109.hp1 others(11): Show HG00140.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03453.hp2 HG04184.hp2 NA18612.hp2 NA18979.hp2 NA18980.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0104 a0001c0001t0001g0137 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0216	14	418	0.0335	11	c.-60 others(20): Show c.-604_-603insAAAAAAAAAAA	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding		549		chr19	TogoVar
BAX_chr19_48949875_48966798	48959992	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0002g0044 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0020 a0001c0001t0003g0047 a0001c0001t0004g0001 a0001c0002t0001g0029 a0001c0002t0001g0072 a0002c0003t0001g0003 a0003c0004t0001g0002	239	418	0.5718	11	c.370 others(26): Show c.370-816_370-806dupAAAAAAAAAAA	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(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00642.hp2 others(43): Show HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp2 HG01975.hp1 HG01981.hp2 HG02109.hp1 HG02683.hp1 HG03139.hp1 HG03195.hp2 HG03834.hp2 HG06807.hp1 NA18946.hp1 NA18948.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18989.hp2 NA18994.hp2 NA19001.hp1 NA19012.hp2 NA19058.hp2 NA19067.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0005 a0001c0002t0002 a0001c0003t0005	a0001c0002t0002g0058 a0001c0002t0002g0064 a0001c0002t0002g0065 others(43): Show a0001c0002t0002g0058 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0003t0005g0194 a0001c0003t0005g0373 a0001c0003t0005g0378	46	380	0.1211	11	c.18 others(22): Show c.1807_*1808insTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1030		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34787363	A A	AAAAAAGA others(4): Show AAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18981.hp1 HG02451.hp2 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0018 a0001c0004t0004g0348 a0001c0004t0004g0018 a0001c0004t0004g0348	2	380	0.0053	11	c.151 others(30): Show c.1511-1153_1511-1143dupCTTTTCTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	12/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34839839	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01257.hp1 others(2): Show HG00099.hp1 HG00639.hp1 HG01257.hp1 HG02615.hp1 HG03491.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0007 a0002c0006t0002 a0002c0006t0007	a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 others(2): Show a0002c0006t0002g0051 a0002c0006t0002g0052 a0002c0006t0002g0053 a0002c0006t0002g0057 a0002c0006t0007g0056	5	380	0.0132	11	c.393 others(30): Show c.393-13694_393-13684dupTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34866502	A A	AAAAAAAG others(4): Show AAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(24): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG01074.hp2 HG01099.hp1 HG01169.hp2 HG01516.hp2 HG01952.hp1 HG02056.hp1 HG02451.hp1 HG02486.hp1 HG02647.hp1 HG02976.hp1 HG03041.hp1 HG03239.hp1 HG03540.hp1 HG03669.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18961.hp1 NA18974.hp1 NA19058.hp1 NA19085.hp2 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 others(24): Show a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0009t0001g0307	27	380	0.0711	11	c.114 others(28): Show c.114-4181_114-4180insCTTTCTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34872941	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0136 a0001c0002t0002g0136	1	380	0.0026	11	c.113 others(28): Show c.113+1550_113+1551insGTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	2/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73524737	C C	CGGAGGAG others(4): Show CGGAGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	200	0.0050	11	c.-28 others(22): Show c.-2805_-2804insCCTCCTCCTCC	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		2445		chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02622.hp2 HG02895.hp2 others(2): Show HG01168.hp2 HG02622.hp2 HG02895.hp2 NA18906.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0001c0001t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0097 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0097 a0001c0008t0001g0035 a0002c0002t0001g0049	5	216	0.0232	11	c.-2- others(28): Show c.-2-13010_-2-13000dupTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159519210	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	216	0.0046	11	c.-3+ others(28): Show c.-3+36602_-3+36612dupAAAAAAAAAAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47217194	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG01175.hp2 others(6): Show HG00609.hp2 HG00735.hp2 HG01175.hp2 HG02602.hp2 HG02738.hp2 NA18955.hp2 NA18963.hp2 NA18966.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0034	a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0001g0189 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0017 a0001c0001t0002g0221 a0001c0001t0014g0036 a0001c0001t0034g0227	9	412	0.0218	11	c.46 others(22): Show c.4607_*4608insAAAAAAAAAAA	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding		3629		chr19	TogoVar
BBLN_chr9_128155265_128168924	128161087	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02015.hp1 HG01070.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	396	0.0051	11	c.79+ others(24): Show c.79+609_79+610insAAAAAAAAAAA	BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
BBOF1_chr14_74014349_74071092	74022337	C C	CAGGAGTT others(4): Show CAGGAGTTCAAG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	386	0.0026	11	c.57- others(24): Show c.57-577_57-567dupGGAGTTCAAGA	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74035584	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02055.hp2 HG02486.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0016 a0006c0005t0005 a0006c0005t0016	a0006c0005t0005g0373 a0006c0005t0016g0381 a0006c0005t0005g0373 a0006c0005t0016g0381	2	386	0.0052	11	c.495 others(28): Show c.495+1431_495+1441dupTTTTTTTTTTT	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(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02809.hp2 others(7): Show HG02145.hp2 HG02257.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0003t0005	a0001c0002t0001g0270 a0001c0002t0003g0016 a0001c0002t0003g0265 others(6): Show a0001c0002t0001g0270 a0001c0002t0003g0016 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0006g0257 a0001c0002t0006g0258 a0001c0002t0006g0291 a0001c0002t0007g0027 a0001c0003t0005g0273	10	318	0.0315	11	c.220 others(26): Show c.220-138_220-137insAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480350	C C	CACACAAA others(4): Show CACACAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA18944.hp1 NA18959.hp1 others(10): Show HG00609.hp2 NA18944.hp1 NA18959.hp1 NA18959.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA19066.hp1 NA19081.hp2 NA19082.hp1 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0012 a0002c0002 a0005c0012	a0002c0002t0001 a0005c0012t0004 a0002c0002t0001 a0005c0012t0004	a0002c0002t0001g0019 a0002c0002t0001g0032 a0002c0002t0001g0114 others(8): Show a0002c0002t0001g0019 a0002c0002t0001g0032 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0230 a0002c0002t0001g0241 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0005c0012t0004g0160	13	398	0.0327	11	c.44 others(22): Show c.4410_*4411insTTTTTTTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4034		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	398	0.0025	11	c.43 others(22): Show c.4398_*4408dupTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480359	A A	AAAACAAA others(4): Show AAAACAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00733.hp1 others(88): Show HG00438.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01256.hp2 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02451.hp1 HG02615.hp2 HG02723.hp2 HG02738.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0011 a0002c0002 a0002c0010 a0002c0011	a0002c0002t0001 a0002c0002t0004 a0002c0010t0001 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0010t0001 a0002c0011t0004	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(60): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0032 a0002c0002t0001g0070 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0122 a0002c0010t0001g0264 a0002c0011t0004g0121	91	398	0.2286	11	c.44 others(22): Show c.4401_*4402insGTTTTTTGTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4025		chr16	TogoVar
BBS4_chr15_72681207_72743473	72710195	G G	GTTCTTTT others(4): Show GTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG06807.hp2 HG02258.hp1 HG02818.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0050	3	398	0.0075	11	c.156 others(26): Show c.156+418_156+419insCTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72713322	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	398	0.0025	11	c.220 others(28): Show c.220+1016_220+1026dupACACACACACA	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBX_chr3_107517962_107816339	107616005	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0146 a0001c0001t0009g0146	1	222	0.0045	11	c.-83 others(30): Show c.-83-29804_-83-29794dupTTTTTTTTTTT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAN_chr1_156637117_156664528	156639023	G G	GGAATTTT others(4): Show GGAATTTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	420	0.0024	11	c.-32 others(22): Show c.-3261_-3260insGAATTTTTCTC	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding		3093		chr1	TogoVar
BCAR1_chr16_75223181_75256624	75245964	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp2 HG03453.hp1 others(2): Show HG01109.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0002c0005 a0003c0007 others(1): Show a0001c0003 a0002c0005 a0003c0007 a0005c0010	a0001c0003t0003 a0002c0005t0001 a0003c0007t0001 others(1): Show a0001c0003t0003 a0002c0005t0001 a0003c0007t0001 a0005c0010t0001	a0001c0003t0003g0093 a0002c0005t0001g0198 a0003c0007t0001g0209 others(2): Show a0001c0003t0003g0093 a0002c0005t0001g0198 a0003c0007t0001g0209 a0003c0007t0001g0210 a0005c0010t0001g0115	5	392	0.0128	11	c.13- others(26): Show c.13-2885_13-2875dupAAAAAAAAAAA	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6			chr16	TogoVar
BCAR3_chr1_93556741_93686837	93675925	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	202	0.0050	11	c.-11 others(26): Show c.-11-995_-11-985dupTTTTTTTTTTT	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/11			chr1	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01175.hp2 others(4): Show HG00735.hp2 HG00738.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG02970.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0041 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0041 a0002c0002t0002 a0002c0002t0021 a0002c0002t0037	a0001c0001t0002g0221 a0001c0001t0041g0052 a0002c0002t0002g0107 others(3): Show a0001c0001t0002g0221 a0001c0001t0041g0052 a0002c0002t0002g0107 a0002c0002t0002g0304 a0002c0002t0021g0303 a0002c0002t0037g0004	7	364	0.0192	11	c.143 others(30): Show c.143-12937_143-12936insTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60731780	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0009 a0001c0004 a0004c0009	a0001c0004t0001 a0004c0009t0001 a0001c0004t0001 a0004c0009t0001	a0001c0004t0001g0034 a0001c0004t0001g0058 a0004c0009t0001g0055 a0001c0004t0001g0034 a0001c0004t0001g0058 a0004c0009t0001g0055	3	74	0.0405	11	c.322 others(30): Show c.322-15412_322-15402dupTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60799520	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02970.hp2 HG03098.hp1 others(1): Show HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0005 a0001c0002 a0001c0008 a0002c0005	a0001c0002t0001 a0001c0008t0002 a0002c0005t0001 a0001c0002t0001 a0001c0008t0002 a0002c0005t0001	a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0008t0002g0062 others(1): Show a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0008t0002g0062 a0002c0005t0001g0051	4	74	0.0541	11	c.404 others(28): Show c.404-8481_404-8480insTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61046047	A A	AATATATA others(4): Show AATATATATATT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	74	0.0135	11	c.202 others(30): Show c.2029+5166_2029+5176dupTATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61059063	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19240.hp2 HG02886.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0060 a0002c0003t0003g0013 a0001c0002t0001g0060 a0002c0003t0003g0013	2	74	0.0270	11	c.203 others(32): Show c.2030-15830_2030-15820dupTTTTTTTTTTT	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(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02615.hp1 HG02922.hp1 others(2): Show HG01099.hp1 HG02615.hp1 HG02922.hp1 HG03225.hp2 HG03540.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0005 a0004c0009 a0001c0002 a0002c0005 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0002c0005t0002 a0004c0009t0001	a0001c0002t0001g0056 a0001c0002t0002g0054 a0002c0005t0001g0073 others(2): Show a0001c0002t0001g0056 a0001c0002t0002g0054 a0002c0005t0001g0073 a0002c0005t0002g0074 a0004c0009t0001g0055	5	74	0.0676	11	c.242 others(34): Show c.2425+107688_2425+107698dupAAAAAAAAAAA	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(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG02559.hp2 others(25): Show HG01099.hp1 HG01891.hp2 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0001c0008 others(7): Show a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0002c0005 a0002c0006 a0002c0007 a0003c0001 a0003c0010 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0008t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0006t0002 a0002c0007t0001 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002 a0004c0009t0001	a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0067 others(25): Show a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0002g0044 a0001c0004t0002g0072 a0001c0008t0002g0062 a0002c0003t0001g0016 a0002c0003t0001g0041 a0002c0003t0002g0036 a0002c0003t0002g0048 a0002c0005t0001g0014 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0006t0002g0030 a0002c0007t0001g0004 a0003c0001t0001g0021 a0003c0001t0001g0024 a0003c0001t0001g0026 a0003c0001t0002g0022 a0003c0001t0002g0029 a0003c0010t0002g0023 a0004c0009t0001g0055	28	74	0.3784	11	c.242 others(34): Show c.2426-113548_2426-113538dupAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50795552	G G	GGGCAGCC others(4): Show GGGCAGCCCCGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01123.hp1 others(69): Show HG00408.hp1 HG00621.hp1 HG01123.hp1 HG01256.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18950.hp2 NA18963.hp1 NA18965.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18994.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA19082.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0002g0017 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0002g0017 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0003g0002 a0001c0001t0003g0065 a0001c0001t0004g0040 a0001c0001t0009g0026 a0001c0001t0010g0003 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0009 a0001c0004t0002g0015 a0001c0004t0002g0016 a0001c0004t0003g0008 a0001c0004t0004g0007 a0001c0004t0004g0013 a0001c0004t0005g0014 a0001c0008t0001g0006 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0041 a0002c0002t0002g0046 a0002c0002t0002g0051 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0038 a0002c0002t0003g0045 a0002c0002t0003g0050 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0066 a0002c0002t0004g0043 a0002c0002t0004g0061 a0006c0009t0001g0010	72	270	0.2667	11	c.90+ others(24): Show c.90+382_90+383insAGCCCCGAGGC	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50796487	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	270	0.0037	11	c.90+ others(26): Show c.90+1315_90+1316insATATATTTTTT	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAS4_chr20_50790061_50882177	50796488	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	270	0.0037	11	c.90+ others(26): Show c.90+1315_90+1316insATATATATATA	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	1/4			chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)