Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
BIN3_chr8_22615418_22674121	22641827	CGAAGAGC others(29): Show CGAAGAGCTCTTCCATCCTCCCAGGTTATGGAGGAAG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	386	0.0026	-36	c.57+ others(51): Show c.57+2892_57+2927delCTTCCTCCATAACCTGGGAGGATGGAAGAG CTCTTC	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	2/8			chr8	TogoVar
BIRC3_chr11_102312484_102344403	102328512	CCCATCCT others(29): Show CCCATCCTAGCCATGAGCAATGAAACTGATACAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp2 HG03471.hp2 others(3): Show HG02970.hp2 HG03209.hp2 HG03471.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0012 a0001c0004t0027 others(1): Show a0001c0004t0009 a0001c0004t0012 a0001c0004t0027 a0001c0004t0031	a0001c0004t0009g0030 a0001c0004t0012g0035 a0001c0004t0012g0092 others(2): Show a0001c0004t0009g0030 a0001c0004t0012g0035 a0001c0004t0012g0092 a0001c0004t0027g0030 a0001c0004t0031g0137	6	384	0.0156	-36	c.103 others(53): Show c.1033-381_1033-346delTCCTAGCCATGAGCAATGAAACTGATAC AGGGTCCA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC5_chr17_78209253_78230635	78223024	TAGACTAG others(29): Show TAGACTAGCTGGGGTGCCTAGACTAGCTGGGGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	432	0.0023	-36	c.340 others(51): Show c.340-410_340-375delGTGCCCAGACTAGCTGGGGTGCCTAGACTA GCTGGG	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
BIRC7_chr20_63230905_63245495	63234267	CAAAGGCG others(29): Show CAAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	300	0.0033	-36	c.-18 others(47): Show c.-1829_-1794delAAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGG GT	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1637		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63234283	GCTGGAGG others(29): Show GCTGGAGGACAGAGAGGGGGTGAAGGCGAGGTGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG02897.hp1 others(3): Show HG02145.hp1 HG02886.hp2 HG02897.hp1 HG03195.hp1 HG03516.hp2 NA18906.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0007 a0006c0007t0001g0024 a0006c0007t0001g0007 a0006c0007t0001g0024	6	300	0.0200	-36	c.-18 others(47): Show c.-1813_-1778delCTGGAGGACAGAGAGGGGGTGAAGGCGAGGTGGG CA	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1621		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63234303	TGAAGGCG others(29): Show TGAAGGCGAGGTGGGCACTGGAGGACAGAGAGGGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	300	0.0033	-36	c.-17 others(47): Show c.-1793_-1758delGAAGGCGAGGTGGGCACTGGAGGACAGAGAGGGG GC	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1601		chr20	TogoVar
BMP7_chr20_57163753_57271641	57190356	AGAGGGGG others(29): Show AGAGGGGGTGAGGCTGGAGAGCGTGAGTGAGGAGCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(46): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00733.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02148.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18963.hp1 NA19005.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0002t0003 a0002c0006t0001	a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0060 others(46): Show a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0002g0063 a0001c0001t0002g0088 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0210 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0005g0121 a0001c0001t0005g0158 a0001c0001t0005g0216 a0001c0001t0006g0252 a0001c0001t0007g0186 a0001c0001t0016g0264 a0001c0002t0003g0019 a0002c0006t0001g0076 a0002c0006t0001g0079	49	272	0.1802	-36	c.761 others(53): Show c.761-6473_761-6438delGGGCTCCTCACTCACGCTCTCCAGCCTC ACCCCCTC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57190449	CGTGAGTG others(29): Show CGTGAGTGAGGAGCCCGAGGGGGTGAGGCTGGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02965.hp1 others(5): Show HG01884.hp1 HG02145.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0014 a0001c0001t0024 others(1): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0024 a0001c0002t0001	a0001c0001t0006g0247 a0001c0001t0014g0257 a0001c0001t0024g0041 others(5): Show a0001c0001t0006g0247 a0001c0001t0014g0257 a0001c0001t0024g0041 a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014	8	272	0.0294	-36	c.761 others(53): Show c.761-6566_761-6531delTCTCTCCAGCCTCACCCCCTCGGGCTCC TCACTCAC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57198176	GCTCTCCT others(29): Show GCTCTCCTCTCCCCCTCCTCTCTATCCTCTCCTCTCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01167.hp2 others(19): Show HG00741.hp2 HG01099.hp1 HG01167.hp2 HG01243.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA18963.hp1 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0002t0003 a0001c0005t0011 a0002c0006t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0095 others(19): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0002g0052 a0001c0001t0002g0210 a0001c0001t0003g0024 a0001c0001t0003g0040 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0254 a0001c0001t0006g0243 a0001c0001t0006g0252 a0001c0001t0014g0237 a0001c0002t0003g0019 a0001c0005t0011g0234 a0001c0005t0011g0235 a0002c0006t0001g0076 a0002c0006t0001g0079	22	272	0.0809	-36	c.760 others(53): Show c.760+4263_760+4298delTGAGAGGAGAGGATAGAGAGGAGGGGGA GAGGAGAG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02698.hp2 NA19009.hp2 HG01243.hp2 HG02698.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0001c0001t0001 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0302 a0002c0002t0001g0231 a0002c0005t0001g0172 a0001c0001t0001g0302 a0002c0002t0001g0231 a0002c0005t0001g0172	3	424	0.0071	-36	c.116 others(53): Show c.1169-421_1169-386delTATATATATATATATATATATATATATA TATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOLL_chr2_197721890_197790319	197784391	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02897.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG02897.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0032 a0001c0001t0001g0244 a0001c0001t0001g0245	4	328	0.0122	-36	c.-16 others(51): Show c.-16+629_-16+664delATATATATATATATATATATATATATATAT ATATAT	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10			chr2	TogoVar
BORCS7_chr10_102849259_102869961	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(186): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0003t0003 a0001c0004t0002	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0098 others(66): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0098 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0019 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0005g0009 a0001c0001t0005g0033 a0001c0001t0007g0012 a0001c0001t0009g0003 a0001c0001t0011g0125 a0001c0001t0012g0004 a0001c0001t0013g0016 a0001c0001t0015g0018 a0001c0001t0017g0019 a0001c0001t0018g0003 a0001c0001t0019g0008 a0001c0003t0003g0003 a0001c0004t0002g0110	189	454	0.4163	-36	c.65 others(47): Show c.6574_*6609delCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGC GC	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding		4537		chr10	TogoVar
BRINP1_chr9_119161629_119374435	119215838	GAAACCTG others(29): Show GAAACCTGGGCATGGCTGCACTGCACGGTGTGGTCAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0211	1	236	0.0042	-36	c.686 others(53): Show c.686-1719_686-1684delTTGACCACACCGTGCAGTGCAGCCATGC CCAGGTTT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	5/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190203750	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	240	0.0042	-36	c.961 others(55): Show c.961+22296_961+22331delATATATATATATATATATATATATAT ATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	6/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61787244	ATATATTA others(29): Show ATATATTATATACTATATAAAATATATAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18959.hp2 HG01109.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0031 a0001c0001t0001 a0001c0005t0031	a0001c0001t0001g0130 a0001c0005t0031g0146 a0001c0001t0001g0130 a0001c0005t0031g0146	2	266	0.0075	-36	c.147 others(55): Show c.1474-2856_1474-2821delATATATTTTTATATATTTTATATAGT ATATAATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61787275	ATATATTA others(29): Show ATATATTATATACTATATAAAATATATAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0077 a0002c0003t0005g0077	1	266	0.0038	-36	c.147 others(55): Show c.1474-2887_1474-2852delATATATTTTTATATATTTTATATAGT ATATAATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1396175	GCTCCTCG others(29): Show GCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp2 HG02004.hp1 others(1): Show HG01256.hp1 HG01257.hp2 HG02004.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0105 a0001c0001t0003g0241 a0001c0001t0004g0106 others(1): Show a0001c0001t0001g0105 a0001c0001t0003g0241 a0001c0001t0004g0106 a0001c0001t0004g0190	4	360	0.0111	-36	c.91+ others(51): Show c.91+5806_91+5841delCGTCTCTCTTCCCTTCCACCCACGTCCCCC ACTCCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396181	CGTCTCTC others(29): Show CGTCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0047 a0001c0006t0001g0047	1	360	0.0028	-36	c.91+ others(51): Show c.91+5810_91+5845delTCTCTTCCCTTCCACCCACGTCCCCCACTC CTGGTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396185	TCTCTTCC others(29): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01069.hp2 others(59): Show HG00280.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG03471.hp2 HG03486.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18967.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19083.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0002c0011 a0004c0009 a0007c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0027 a0001c0001t0031 a0001c0001t0047 a0001c0003t0001 a0001c0015t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0012 a0002c0002t0016 a0002c0002t0020 a0002c0002t0022 a0002c0002t0029 a0002c0002t0039 a0002c0002t0050 a0002c0002t0056 a0002c0002t0073 a0002c0011t0002 a0004c0009t0008 a0007c0013t0004	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0044 others(58): Show a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0339 a0001c0001t0003g0193 a0001c0001t0003g0263 a0001c0001t0004g0051 a0001c0001t0004g0175 a0001c0001t0004g0314 a0001c0001t0006g0215 a0001c0001t0006g0247 a0001c0001t0009g0068 a0001c0001t0009g0122 a0001c0001t0009g0128 a0001c0001t0011g0295 a0001c0001t0027g0129 a0001c0001t0031g0012 a0001c0001t0047g0340 a0001c0003t0001g0338 a0001c0015t0001g0315 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0024 a0002c0002t0002g0064 a0002c0002t0002g0126 a0002c0002t0002g0169 a0002c0002t0002g0320 a0002c0002t0002g0323 a0002c0002t0005g0216 a0002c0002t0005g0258 a0002c0002t0005g0262 a0002c0002t0005g0283 a0002c0002t0007g0294 a0002c0002t0007g0345 a0002c0002t0007g0346 a0002c0002t0012g0006 a0002c0002t0012g0347 a0002c0002t0012g0348 a0002c0002t0012g0349 a0002c0002t0016g0284 a0002c0002t0020g0125 a0002c0002t0022g0204 a0002c0002t0029g0025 a0002c0002t0039g0344 a0002c0002t0050g0165 a0002c0002t0056g0337 a0002c0002t0073g0217 a0002c0011t0002g0032 a0004c0009t0008g0178 a0007c0013t0004g0065	62	360	0.1722	-36	c.91+ others(51): Show c.91+5893_91+5928delCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1411955	AGTCCTGC others(29): Show AGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02818.hp1 HG02922.hp1 others(2): Show HG00642.hp2 HG02818.hp1 HG02922.hp1 HG03195.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0014 a0001c0003t0031 a0002c0002t0002 a0001c0003t0014 a0001c0003t0031 a0002c0002t0002	a0001c0003t0014g0036 a0001c0003t0014g0037 a0001c0003t0014g0038 others(2): Show a0001c0003t0014g0036 a0001c0003t0014g0037 a0001c0003t0014g0038 a0001c0003t0031g0007 a0002c0002t0002g0035	5	360	0.0139	-36	c.91+ others(53): Show c.91+21782_91+21817delCAGCTGCGCCGCCCCGTCCTGCGGTGGG TGGAGTCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1412157	CAGCTGCG others(29): Show CAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	360	0.0028	-36	c.91+ others(53): Show c.91+21818_91+21853delGAGCTGCGCCGCCCCGTCCTGCGGTGGG TGGAGTCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1412382	CGCCCCGT others(29): Show CGCCCCGTCCTGCGGTGGGTGGAGTCTGAGCTGCGCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01952.hp2 HG01975.hp2 others(20): Show HG01192.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02293.hp1 HG02300.hp2 HG02647.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp2 NA18950.hp2 NA18966.hp2 NA18970.hp1 NA18977.hp2 NA18983.hp1 NA19000.hp2 NA19005.hp1 NA19054.hp2 NA19060.hp2 NA19068.hp2 NA19083.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0043 a0001c0001t0045 a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0002t0017 a0002c0002t0035 a0002c0002t0039 a0002c0002t0054	a0001c0001t0001g0048 a0001c0001t0001g0313 a0001c0001t0003g0232 others(19): Show a0001c0001t0001g0048 a0001c0001t0001g0313 a0001c0001t0003g0232 a0001c0001t0014g0039 a0001c0001t0043g0050 a0001c0001t0045g0040 a0002c0002t0002g0015 a0002c0002t0002g0149 a0002c0002t0007g0294 a0002c0002t0007g0308 a0002c0002t0007g0309 a0002c0002t0007g0345 a0002c0002t0007g0346 a0002c0002t0007g0350 a0002c0002t0012g0006 a0002c0002t0012g0347 a0002c0002t0012g0348 a0002c0002t0012g0349 a0002c0002t0017g0301 a0002c0002t0035g0296 a0002c0002t0039g0344 a0002c0002t0054g0322	23	360	0.0639	-36	c.91+ others(53): Show c.91+22034_91+22069delGAGCTGCGCTGCCCCGTCCTGCGGTGGG TGGAGTCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217015	ATATATAT others(29): Show ATATATATATATATATATATAAATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	338	0.0030	-36	c.365 others(55): Show c.3659+1101_3659+1136delAATATATATATATATTTATATATATA TATATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217061	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0019 a0003c0004t0019	a0003c0004t0019g0077 a0003c0004t0019g0077	1	338	0.0030	-36	c.365 others(55): Show c.3659+1055_3659+1090delAAAAAAAAAAAAAATATATATATATA TATATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80813841	ACTCCTGT others(29): Show ACTCCTGTAATCCCAGCTACTAGTGAGGCTGAGGCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0153 a0001c0001t0100g0153	1	265	0.0038	-36	c.-44 others(47): Show c.-4406_-4371delATGCCTCAGCCTCACTAGTAGCTGGGATTACAGG AG	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding		3965		chrX	TogoVar
BSPRY_chr9_113344541_113376222	113357886	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp2 others(6): Show HG00642.hp1 HG01069.hp1 HG01071.hp2 HG02015.hp1 HG03831.hp1 HG03834.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0003 a0001c0002 a0001c0006 a0002c0003	a0001c0002t0008 a0001c0006t0002 a0002c0003t0002 others(2): Show a0001c0002t0008 a0001c0006t0002 a0002c0003t0002 a0002c0003t0006 a0002c0003t0013	a0001c0002t0008g0144 a0001c0006t0002g0287 a0002c0003t0002g0036 others(6): Show a0001c0002t0008g0144 a0001c0006t0002g0287 a0002c0003t0002g0036 a0002c0003t0006g0036 a0002c0003t0006g0058 a0002c0003t0006g0143 a0002c0003t0006g0285 a0002c0003t0006g0286 a0002c0003t0013g0058	9	448	0.0201	-36	c.301 others(53): Show c.301-2599_301-2564delATATATATATATATATATATATATATAT ATATATAT	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
BTBD7_chr14_93232550_93338036	93300704	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	375	0.0027	-36	c.-10 others(55): Show c.-106-4583_-106-4548delCACACACACACACACACACACACACA CACACACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93300738	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02559.hp2 HG03579.hp1 others(1): Show HG00733.hp2 HG02559.hp2 HG03579.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0030 a0001c0001t0005 a0001c0001t0007 a0001c0001t0030	a0001c0001t0005g0160 a0001c0001t0007g0168 a0001c0001t0007g0252 others(1): Show a0001c0001t0005g0160 a0001c0001t0007g0168 a0001c0001t0007g0252 a0001c0001t0030g0265	4	375	0.0107	-36	c.-10 others(55): Show c.-106-4617_-106-4582delTACACACACACACACACACACACACA CACACACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD7_chr14_93232550_93338036	93300740	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	375	0.0027	-36	c.-10 others(55): Show c.-106-4619_-106-4584delTATACACACACACACACACACACACA CACACACACA	BTBD7	ENSG00000011114.15	transcript	ENST00000334746.10	protein_coding	1/10			chr14	TogoVar
BTBD9_chr6_38163451_38644929	38266605	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02109.hp2 HG02145.hp2 others(3): Show HG01123.hp2 HG02109.hp2 HG02145.hp2 HG04228.hp2 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0057 a0001c0001t0059 others(3): Show a0001c0001t0024 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0075 a0001c0001t0087	a0001c0001t0024g0086 a0001c0001t0057g0066 a0001c0001t0059g0223 others(3): Show a0001c0001t0024g0086 a0001c0001t0057g0066 a0001c0001t0059g0223 a0001c0001t0061g0064 a0001c0001t0075g0185 a0001c0001t0087g0083	6	224	0.0268	-36	c.145 others(57): Show c.1455-10125_1455-10090delTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38465725	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0029 a0001c0001t0125g0029	1	224	0.0045	-36	c.115 others(59): Show c.1154+111839_1154+111874delCATACATATATATATATATATA TATATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTN2A2_chr6_26378108_26399874	26382622	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG00639.hp1 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	390	0.0051	-36	c.-58 others(45): Show c.-589_-554delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	BTN2A2	ENSG00000124508.17	transcript	ENST00000356709.9	protein_coding		485		chr6	TogoVar
BTN3A2_chr6_26360198_26383312	26382622	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01106.hp2 HG00140.hp2 HG00639.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0144 a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0144	3	382	0.0079	-36	c.68 others(47): Show c.6861_*6896delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding		4311		chr6	TogoVar
BTRC_chr10_101349165_101562313	101367029	TATTTATA others(29): Show TATTTATATATATAAATATATATATATATAAATATAA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	266	0.0038	-36	c.48+ others(53): Show c.48+12804_48+12839delTTATATATATAAATATATATATATATAA ATATAAAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BZW2_chr7_16641181_16711517	16710696	AGGAAGGA others(29): Show AGGAAGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp1 others(47): Show HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01256.hp2 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02738.hp1 HG03654.hp2 HG03831.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18962.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA19007.hp1 NA19012.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0006t0002	a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0099 others(42): Show a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0209 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0404 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0002g0053 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0350 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0002g0366 a0001c0001t0002g0370 a0001c0001t0002g0397 a0001c0005t0001g0026 a0001c0006t0002g0054	50	418	0.1196	-36	c.46 others(47): Show c.4609_*4644delGGAAGGAGGGAAGGAAGGAAGGAAGGAAGGAAGG AG	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding		4180		chr7	TogoVar
C10orf67_chr10_23197696_23349797	23323894	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01109.hp2 others(18): Show HG00323.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02257.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0011 a0001c0001 a0001c0002 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0007c0011t0001	a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0293 others(18): Show a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0002g0251 a0001c0001t0002g0257 a0001c0001t0002g0273 a0001c0001t0002g0306 a0001c0002t0001g0010 a0001c0002t0005g0009 a0007c0011t0001g0305	21	326	0.0644	-36	c.328 others(53): Show c.328-1393_328-1358delATATATATATATATATATATATATATAT ATATATAT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C11orf21_chr11_2290628_2306918	2299812	ATGCACAC others(29): Show ATGCACACACATCCACGTCTGCACACGCATCCACGCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(63): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG02055.hp1 HG02080.hp2 HG02273.hp2 HG02451.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02922.hp1 HG02976.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18945.hp1 NA18952.hp1 NA18971.hp1 NA18978.hp1 NA18985.hp1 NA18986.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19067.hp2 NA19090.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0002 a0003c0004t0003 others(3): Show a0001c0001t0003 a0003c0004t0002 a0003c0004t0003 a0003c0004t0014 a0003c0004t0015 a0003c0004t0018	a0001c0001t0003g0055 a0003c0004t0002g0023 a0003c0004t0003g0003 others(9): Show a0001c0001t0003g0055 a0003c0004t0002g0023 a0003c0004t0003g0003 a0003c0004t0003g0044 a0003c0004t0003g0045 a0003c0004t0003g0048 a0003c0004t0003g0049 a0003c0004t0003g0050 a0003c0004t0003g0053 a0003c0004t0014g0051 a0003c0004t0015g0052 a0003c0004t0018g0046	66	426	0.1549	-36	c.148 others(51): Show c.148-141_148-106delGGCGTGGATGCGTGTGCAGACGTGGATGTG TGTGCA	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding	2/3			chr11	TogoVar
C11orf21_chr11_2290628_2306918	2299829	TCTGCACA others(29): Show TCTGCACACGCATCCACGCCTGCACACGCATCCATGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01175.hp2 others(27): Show HG00323.hp2 HG00558.hp1 HG01175.hp2 HG01257.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp2 HG02080.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02698.hp1 HG02698.hp2 HG03195.hp2 HG03834.hp2 NA18941.hp1 NA18952.hp2 NA18961.hp1 NA18969.hp1 NA18977.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA19083.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0028 a0001c0003t0030 a0001c0003t0005 a0001c0003t0028 a0001c0003t0030	a0001c0003t0005g0005 a0001c0003t0005g0024 a0001c0003t0005g0063 others(4): Show a0001c0003t0005g0005 a0001c0003t0005g0024 a0001c0003t0005g0063 a0001c0003t0005g0064 a0001c0003t0005g0065 a0001c0003t0028g0061 a0001c0003t0030g0066	30	426	0.0704	-36	c.148 others(51): Show c.148-158_148-123delGCATGGATGCGTGTGCAGGCGTGGATGCGT GTGCAG	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding	2/3			chr11	TogoVar
C11orf65_chr11_108377755_108472529	108455648	TCTACTAA others(29): Show TCTACTAAAAATACAAAAATTAGTCAGGTGTGGCGGC	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	330	0.0030	-36	c.81+ others(51): Show c.81+5795_81+5830delGCCGCCACACCTGACTAATTTTTGTATTTT TAGTAG	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	2/8			chr11	TogoVar
C12orf40_chr12_39621183_39726914	39713505	TGTATACA others(29): Show TGTATACATGCGTGCATACATGTGTACACGTACATAC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	360	0.0028	-36	c.141 others(55): Show c.1412-3224_1412-3189delACGTACATACGTATACATGCGTGCAT ACATGTGTAC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf50_chr12_87975035_88034401	88010370	TAGATTAT others(29): Show TAGATTATAAGATTAAAATTATTATAATCTTATAATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01192.hp1 others(42): Show HG00741.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03834.hp1 NA18522.hp2 NA18906.hp1 NA18949.hp1 NA18962.hp2 NA19004.hp1 NA19043.hp1 NA19058.hp1 NA19075.hp2 NA19083.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0005t0001	a0001c0001t0001g0092 a0002c0002t0001g0003 a0002c0002t0001g0008 others(32): Show a0001c0001t0001g0092 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0041 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0163 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0179 a0002c0002t0001g0196 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0004c0005t0001g0037 a0004c0005t0001g0047 a0004c0005t0001g0074 a0004c0005t0001g0142	45	272	0.1654	-36	c.134 others(55): Show c.134-12216_134-12181delTATTATAAGATTATAATAATTTTAAT CTTATAATCT	C12orf50	ENSG00000165805.10	transcript	ENST00000298699.7	protein_coding	3/12			chr12	TogoVar
C14orf132_chr14_96034362_96098971	96069256	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0157 a0001c0001t0041g0157	1	372	0.0027	-36	c.28- others(53): Show c.28-17240_28-17205delATATATATATATATATATATATATATAT ATATATAT	C14orf132	ENSG00000227051.7	transcript	ENST00000555004.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
C17orf58_chr17_67986099_68001469	68000846	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG02717.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0059 a0003c0003t0001g0117 a0001c0001t0002g0059 a0003c0003t0001g0117	2	412	0.0049	-36	c.-46 others(47): Show c.-4684_-4649delTATATATATATATATATATATATATATATATATA TA	C17orf58	ENSG00000186665.10	transcript	ENST00000580729.3	protein_coding		4378		chr17	TogoVar
C19orf38_chr19_10843415_10874790	10871571	TGCGGCGG others(29): Show TGCGGCGGCGGTAGCGGCAGCGGCGGCGGCGGCGGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	384	0.0026	-36	c.22 others(47): Show c.2205_*2240delGCGGCGGCGGTAGCGGCAGCGGCGGCGGCGGCGG CG	C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding		1782		chr19	TogoVar
C1QB_chr1_22648236_22666637	22658897	GGATGGAT others(29): Show GGATGGATGGATGGATGCAGGGATGGAGGGGTAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(69): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp2 HG02895.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18957.hp2 NA18964.hp1 NA18970.hp1 NA18992.hp1 NA18995.hp2 NA19005.hp1 NA19011.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19075.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0019 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079	72	430	0.1674	-36	c.-23 others(51): Show c.-23-526_-23-491delCAGGGATGGAGGGGTAGAGAGATGGATGGA TGGATG	C1QB	ENSG00000173369.18	transcript	ENST00000509305.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf127_chr1_10941475_10987076	10985835	CAGAAACG others(29): Show CAGAAACGCCAAAGCCAGGGCAAACATCACTGGTACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0047 a0001c0003t0001g0047	1	392	0.0026	-36	c.-38 others(47): Show c.-3834_-3799delTGTACCAGTGATGTTTGCCCTGGCTTTGGCGTTT CT	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding		3760		chr1	TogoVar
C1orf43_chr1_154201720_154225590	154203172	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG04115.hp2 HG01257.hp1 HG01258.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	374	0.0080	-36	c.42 others(47): Show c.4245_*4280delATATATATATATATATATATATATATATATATAT AT	C1orf43	ENSG00000143612.21	transcript	ENST00000368521.10	protein_coding		3547		chr1	TogoVar
C1orf87_chr1_59985394_60078770	60064754	ATAAATAT others(29): Show ATAAATATATAATTATATTTAATATATAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	382	0.0026	-36	c.107 others(53): Show c.107+7747_107+7782delATATATATTTATATATTAAATATAATTA TATATTTA	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C2CD3_chr11_74007718_74176002	74077771	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp2 HG00609.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0158 a0001c0001t0001g0099 a0001c0001t0001g0158	2	318	0.0063	-36	c.460 others(53): Show c.4603+308_4603+343delTATATATATATATATATATATATATATA TATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74077811	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03654.hp1 NA18991.hp2 HG03098.hp1 HG03654.hp1 NA18991.hp2	a0003 a0003	a0003c0002 a0003c0034 a0003c0002 a0003c0034	a0003c0002t0001 a0003c0034t0001 a0003c0002t0001 a0003c0034t0001	a0003c0002t0001g0254 a0003c0002t0001g0294 a0003c0034t0001g0185 a0003c0002t0001g0254 a0003c0002t0001g0294 a0003c0034t0001g0185	3	318	0.0094	-36	c.460 others(53): Show c.4603+268_4603+303delAATATATATATATATATATATATATATA TATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar

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