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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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FAM168A_chr11_73395487_73603112	73574969	A A	ATTACTGA others(12): Show ATTACTGAGCCCCTATCATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01167.hp2 others(57): Show HG00140.hp2 HG01106.hp2 HG01167.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18965.hp1 NA18981.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(19): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0003t0004 a0001c0003t0028	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(57): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0145 a0001c0001t0004g0147 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0024 a0001c0001t0006g0028 a0001c0001t0006g0067 a0001c0001t0006g0180 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0011g0148 a0001c0001t0014g0153 a0001c0001t0014g0154 a0001c0001t0015g0132 a0001c0001t0015g0133 a0001c0001t0019g0069 a0001c0001t0019g0070 a0001c0001t0022g0061 a0001c0001t0022g0062 a0001c0001t0024g0003 a0001c0001t0025g0120 a0001c0001t0026g0144 a0001c0001t0027g0146 a0001c0001t0029g0141 a0001c0001t0030g0156 a0001c0001t0039g0125 a0001c0001t0040g0126 a0001c0001t0042g0060 a0001c0001t0043g0068 a0001c0003t0004g0063 a0001c0003t0028g0064	60	180	0.3333	19	c.-19 others(38): Show c.-19+22953_-19+22954insCATGATAGGGGCTCAGTAA		FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7						chr11	TogoVar
FAM168B_chr2_131042876_131098460	131087063	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	260	0.0039	19	c.-11 others(36): Show c.-11-4425_-11-4407dupTTTTTTTTTTTTTTTTTTT		FAM168B	ENSG00000152102.18	transcript	ENST00000389915.4	protein_coding	1/6						chr2	TogoVar
FAM169A_chr5_74772574_74871387	74784510	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0103 a0001c0003t0006g0103	1	308	0.0033	19	c.126 others(38): Show c.1261-1395_1261-1377dupTTTTTTTTTTTTTTTTTTT		FAM169A	ENSG00000198780.13	transcript	ENST00000687041.1	protein_coding	11/12						chr5	TogoVar
FAM172A_chr5_93612725_94116663	93635459	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG02055.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0119 a0001c0001t0002g0121	2	126	0.0159	19	c.110 others(40): Show c.1109-14331_1109-14330insAAAAAAAAAAAAAAAAAAA		FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	10/10						chr5	TogoVar
FAM172A_chr5_93612725_94116663	93653511	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	126	0.0079	19	c.110 others(40): Show c.1109-32401_1109-32383dupTTTTTTTTTTTTTTTTTTT		FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	10/10						chr5	TogoVar
FAM174B_chr15_92612448_92660775	92626139	A A	ACGGAGTC others(12): Show ACGGAGTCTCGCTCTTTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0002c0002 a0003c0004 a0004c0005 a0005c0012 a0006c0010 a0007c0009 a0008c0011 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0003t0002 a0001c0006t0002 a0001c0006t0024 a0001c0008t0001 a0002c0002t0009 a0002c0002t0010 a0002c0002t0015 a0002c0002t0031 a0003c0004t0016 a0003c0004t0037 a0004c0005t0001 a0004c0005t0042 a0005c0012t0003 a0006c0010t0012 a0007c0009t0005 a0008c0011t0025 a0009c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0049 others(349): Show a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0330 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0056 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0125 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0297 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0003g0001 a0001c0001t0003g0018 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0003g0080 a0001c0001t0003g0088 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0130 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0149 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0334 a0001c0001t0004g0064 a0001c0001t0004g0232 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0001t0005g0129 a0001c0001t0005g0167 a0001c0001t0005g0169 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0180 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0201 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0225 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0244 a0001c0001t0005g0258 a0001c0001t0005g0307 a0001c0001t0005g0323 a0001c0001t0005g0325 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0360 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0078 a0001c0001t0006g0091 a0001c0001t0006g0141 a0001c0001t0006g0152 a0001c0001t0006g0183 a0001c0001t0006g0203 a0001c0001t0006g0235 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0265 a0001c0001t0006g0270 a0001c0001t0006g0298 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0007g0023 a0001c0001t0007g0025 a0001c0001t0007g0044 a0001c0001t0007g0063 a0001c0001t0007g0081 a0001c0001t0007g0111 a0001c0001t0007g0126 a0001c0001t0007g0138 a0001c0001t0007g0145 a0001c0001t0007g0154 a0001c0001t0007g0170 a0001c0001t0007g0194 a0001c0001t0007g0207 a0001c0001t0007g0248 a0001c0001t0007g0250 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0268 a0001c0001t0007g0348 a0001c0001t0008g0012 a0001c0001t0008g0015 a0001c0001t0008g0052 a0001c0001t0008g0066 a0001c0001t0008g0089 a0001c0001t0008g0177 a0001c0001t0008g0179 a0001c0001t0008g0191 a0001c0001t0008g0228 a0001c0001t0008g0280 a0001c0001t0008g0306 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0029 a0001c0001t0009g0054 a0001c0001t0009g0117 a0001c0001t0009g0123 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0009g0338 a0001c0001t0010g0014 a0001c0001t0010g0036 a0001c0001t0010g0102 a0001c0001t0010g0190 a0001c0001t0010g0333 a0001c0001t0010g0339 a0001c0001t0010g0349 a0001c0001t0010g0362 a0001c0001t0011g0024 a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0011g0050 a0001c0001t0011g0132 a0001c0001t0012g0097 a0001c0001t0012g0115 a0001c0001t0012g0282 a0001c0001t0012g0343 a0001c0001t0012g0350 a0001c0001t0013g0074 a0001c0001t0013g0110 a0001c0001t0013g0142 a0001c0001t0013g0213 a0001c0001t0013g0257 a0001c0001t0013g0259 a0001c0001t0013g0290 a0001c0001t0014g0086 a0001c0001t0014g0103 a0001c0001t0014g0156 a0001c0001t0014g0233 a0001c0001t0014g0234 a0001c0001t0014g0236 a0001c0001t0015g0043 a0001c0001t0015g0118 a0001c0001t0015g0119 a0001c0001t0015g0189 a0001c0001t0016g0112 a0001c0001t0016g0341 a0001c0001t0016g0351 a0001c0001t0016g0352 a0001c0001t0017g0007 a0001c0001t0017g0383 a0001c0001t0017g0384 a0001c0001t0017g0386 a0001c0001t0019g0061 a0001c0001t0019g0221 a0001c0001t0019g0300 a0001c0001t0020g0121 a0001c0001t0020g0136 a0001c0001t0020g0345 a0001c0001t0021g0361 a0001c0001t0022g0077 a0001c0001t0022g0260 a0001c0001t0022g0315 a0001c0001t0023g0144 a0001c0001t0023g0193 a0001c0001t0023g0237 a0001c0001t0024g0057 a0001c0001t0024g0208 a0001c0001t0025g0227 a0001c0001t0025g0289 a0001c0001t0026g0127 a0001c0001t0026g0218 a0001c0001t0027g0337 a0001c0001t0027g0359 a0001c0001t0028g0215 a0001c0001t0028g0223 a0001c0001t0029g0158 a0001c0001t0029g0166 a0001c0001t0031g0028 a0001c0001t0032g0032 a0001c0001t0032g0336 a0001c0001t0033g0327 a0001c0001t0033g0342 a0001c0001t0034g0031 a0001c0001t0034g0034 a0001c0001t0035g0285 a0001c0001t0035g0286 a0001c0001t0036g0381 a0001c0001t0036g0382 a0001c0001t0038g0274 a0001c0001t0040g0335 a0001c0001t0041g0321 a0001c0001t0043g0184 a0001c0001t0044g0120 a0001c0001t0045g0295 a0001c0001t0046g0041 a0001c0001t0047g0364 a0001c0001t0048g0122 a0001c0001t0049g0062 a0001c0001t0050g0363 a0001c0001t0052g0317 a0001c0001t0053g0075 a0001c0001t0054g0053 a0001c0001t0055g0162 a0001c0001t0056g0133 a0001c0001t0057g0200 a0001c0001t0058g0249 a0001c0001t0059g0055 a0001c0001t0060g0322 a0001c0001t0061g0134 a0001c0001t0062g0047 a0001c0001t0063g0051 a0001c0001t0064g0030 a0001c0001t0065g0385 a0001c0001t0066g0387 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0021 a0001c0006t0002g0013 a0001c0006t0024g0113 a0001c0008t0001g0011 a0002c0002t0009g0369 a0002c0002t0009g0371 a0002c0002t0010g0378 a0002c0002t0015g0377 a0002c0002t0015g0379 a0002c0002t0031g0370 a0003c0004t0016g0366 a0003c0004t0037g0367 a0004c0005t0001g0010 a0004c0005t0042g0009 a0005c0012t0003g0380 a0006c0010t0012g0094 a0007c0009t0005g0358 a0008c0011t0025g0365 a0009c0007t0001g0008	358	394	0.9086	19	c.476 others(36): Show c.476+4074_476+4075insGTGAAAGAGCGAGACTCCG		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	2/2						chr15	TogoVar
FAM174B_chr15_92612448_92660775	92630835	A A	ACGTATTA others(12): Show ACGTATTACGTATTACATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02647.hp1 others(4): Show HG01109.hp1 HG02257.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0032 a0001c0006t0002	a0001c0001t0002g0022 a0001c0001t0008g0015 a0001c0001t0008g0052 others(4): Show a0001c0001t0002g0022 a0001c0001t0008g0015 a0001c0001t0008g0052 a0001c0001t0010g0014 a0001c0001t0011g0033 a0001c0001t0032g0032 a0001c0006t0002g0013	7	394	0.0178	19	c.345 others(34): Show c.345-491_345-490insATATGTAATACGTAATACG		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM178B_chr2_96870885_96991580	96967911	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	250	0.0040	19	c.627 others(34): Show c.627-303_627-285dupAAAAAAAAAAAAAAAAAAA		FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	4/16						chr2	TogoVar
FAM181A_chr14_93922344_93934608	93927031	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	439	0.0023	19	c.-51 others(28): Show c.-511_-510insCACACACACACACACACAC		FAM181A	ENSG00000140067.7	transcript	ENST00000556222.2	protein_coding					312		chr14	TogoVar
FAM181A_chr14_93922344_93934608	93927060	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01496.hp1 HG01934.hp2 others(2): Show HG00408.hp2 HG01496.hp1 HG01934.hp2 HG03486.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	439	0.0114	19	c.-48 others(28): Show c.-482_-481insCACACACACACACACACAC		FAM181A	ENSG00000140067.7	transcript	ENST00000556222.2	protein_coding					283		chr14	TogoVar
FAM181A_chr14_93922344_93934608	93927061	C C	CACACACA others(12): Show CACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	439	0.0023	19	c.-48 others(28): Show c.-481_-480insACACACACACACACACACA		FAM181A	ENSG00000140067.7	transcript	ENST00000556222.2	protein_coding					282		chr14	TogoVar
FAM184B_chr4_17624306_17786621	17641461	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0170 a0001c0005t0014g0170	1	238	0.0042	19	c.251 others(36): Show c.2519+576_2519+594dupAAAAAAAAAAAAAAAAAAA		FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	13/17						chr4	TogoVar
FAM184B_chr4_17624306_17786621	17641643	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	238	0.0042	19	c.251 others(36): Show c.2519+394_2519+412dupAAAAAAAAAAAAAAAAAAA		FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	13/17						chr4	TogoVar
FAM186A_chr12_50322309_50401609	50394732	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01515.hp1 HG02486.hp2 others(4): Show HG01175.hp2 HG01515.hp1 HG02486.hp2 HG02559.hp2 HG02647.hp1 NA18953.hp2 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0003c0003t0001g0022	7	332	0.0211	19	c.192 others(36): Show c.192+1542_192+1560dupAAAAAAAAAAAAAAAAAAA		FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	1/7						chr12	TogoVar
FAM186B_chr12_49582505_49610639	49600279	T T	TGGAGTCC others(12): Show TGGAGTCCTCCCTTCTGGAA	frameshift_variant frameshift_variant	HIGH	HG01168.hp2 HG01168.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0090 a0010c0019t0001g0090	1	266	0.0038	19	c.134 others(28): Show c.1342_1360dupTTCCAGAAGGGAGGACTCC	p.Gln others(5): Show p.Gln454fs	FAM186B	ENSG00000135436.8	transcript	ENST00000257894.2	protein_coding	4/7	1522/2944	1360/2682	454/893			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2567228	G G	GTGAGCCA others(12): Show GTGAGCCACCACGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18950.hp2 HG02132.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0200 a0001c0001t0001g0133 a0001c0001t0001g0200	2	330	0.0061	19	c.256 others(38): Show c.256-28833_256-28815dupGCCACCACGCCCGGCCTGA		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	330	0.0030	19	c.502 others(36): Show c.502-7999_502-7998insATATATATATATATATTTT		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02647.hp2 HG02723.hp1 others(1): Show HG01361.hp2 HG02647.hp2 HG02723.hp1 NA18982.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0010 a0004c0004t0003 a0001c0001t0001 a0001c0001t0010 a0004c0004t0003	a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0010g0149 others(1): Show a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0010g0149 a0004c0004t0003g0319	4	330	0.0121	19	c.502 others(36): Show c.502-7999_502-7998insATATATATATATTTTTTTT		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02145.hp2 HG03098.hp1 others(2): Show HG02083.hp2 HG02145.hp2 HG03098.hp1 HG03834.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0250 a0001c0001t0001g0262 a0001c0001t0001g0274	5	330	0.0152	19	c.502 others(36): Show c.502-7999_502-7998insATATATATATTTTTTTTTT		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 HG02622.hp1 others(2): Show HG00609.hp1 HG02040.hp2 HG02622.hp1 HG03239.hp2 NA19007.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0180 a0001c0001t0001g0201 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0180 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0280 a0006c0008t0001g0005	5	330	0.0152	19	c.502 others(36): Show c.502-7999_502-7998insATATATATTTTTTTTTTTT		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	330	0.0030	19	c.502 others(36): Show c.502-7999_502-7998insATATATTTTTTTTTTTTTT		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18964.hp2 HG00735.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0309 a0001c0018t0001g0260 a0001c0001t0001g0309 a0001c0018t0001g0260	2	330	0.0061	19	c.502 others(36): Show c.502-7999_502-7998insATATTTTTTTTTTTTTTTT		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2620836	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02615.hp2 HG02970.hp1 others(1): Show HG01516.hp1 HG02615.hp2 HG02970.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0003 a0002c0011t0003 a0001c0002t0003 a0002c0011t0003	a0001c0002t0003g0112 a0001c0002t0003g0119 a0001c0002t0003g0120 others(1): Show a0001c0002t0003g0112 a0001c0002t0003g0119 a0001c0002t0003g0120 a0002c0011t0003g0114	4	330	0.0121	19	c.502 others(36): Show c.502-4422_502-4404dupAAAAAAAAAAAAAAAAAAA		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2620836	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAGAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG03139.hp2 HG01243.hp2 HG01884.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003	3	330	0.0091	19	c.502 others(36): Show c.502-4415_502-4414insGAAAAAAAAAAAAAAAAAA		FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM200A_chr7_99541300_99557114	99549175	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp2 others(75): Show HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG01099.hp1 HG01192.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19067.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0002g0030 a0001c0001t0005g0040	78	378	0.2064	19	c.-99 others(34): Show c.-99-670_-99-669insAAAAAAAAAAAAAAAAAAA		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar
FAM200A_chr7_99541300_99557114	99553100	T T	TATATATA others(12): Show TATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	378	0.0027	19	c.-13 others(30): Show c.-1347_-1346insTATATATATATATATATAT		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding					987		chr7	TogoVar
FAM204A_chr10_118292925_118347324	118299391	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG02738.hp2 HG03139.hp2 others(1): Show HG01358.hp2 HG02738.hp2 HG03139.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0048 a0001c0001t0022 a0001c0001t0048	a0001c0001t0022g0127 a0001c0001t0022g0130 a0001c0001t0022g0136 others(1): Show a0001c0001t0022g0127 a0001c0001t0022g0130 a0001c0001t0022g0136 a0001c0001t0048g0071	4	394	0.0102	19	c.11 others(32): Show c.11447_*11465dupAAAAAAAAAAAAAAAAAAA		FAM204A	ENSG00000165669.14	transcript	ENST00000369183.9	protein_coding	9/9				11465		chr10	TogoVar
FAM20A_chr17_68530116_68606367	68581415	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02280.hp2 NA20300.hp2 HG01123.hp1 HG02280.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0018 a0001c0001 a0002c0002 a0003c0018	a0001c0001t0005 a0002c0002t0001 a0003c0018t0001 a0001c0001t0005 a0002c0002t0001 a0003c0018t0001	a0001c0001t0005g0329 a0002c0002t0001g0292 a0003c0018t0001g0013 a0001c0001t0005g0329 a0002c0002t0001g0292 a0003c0018t0001g0013	3	380	0.0079	19	c.404 others(38): Show c.404+18847_404+18848insGAAAGAAAGAAAGAAAGAA		FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10						chr17	TogoVar
FAM210A_chr18_13658347_13731558	13665381	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0098 a0001c0001t0027g0098	1	326	0.0031	19	c.10 others(30): Show c.1080_*1098dupTTTTTTTTTTTTTTTTTTT		FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	4/4				1098		chr18	TogoVar
FAM210A_chr18_13658347_13731558	13713725	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA19004.hp1 HG02897.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0154 a0001c0001t0009g0041 a0001c0001t0001g0154 a0001c0001t0009g0041	2	326	0.0061	19	c.-29 others(38): Show c.-29+12603_-29+12604insGTGTGTGTGTGTGTGTGTG		FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	1/3						chr18	TogoVar
FAM219A_chr9_34393184_34463570	34416192	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	396	0.0025	19	c.61- others(36): Show c.61-10247_61-10229dupCTTTCTTTCTTTCTTTCTT		FAM219A	ENSG00000164970.15	transcript	ENST00000651358.1	protein_coding	1/5						chr9	TogoVar
FAM221A_chr7_23675199_23707650	23690199	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0068 a0005c0007t0002g0068	1	410	0.0024	19	c.430 others(34): Show c.430+741_430+742insATATATATATATATATTTT		FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM221A_chr7_23675199_23707650	23690200	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	410	0.0024	19	c.430 others(34): Show c.430+741_430+742insATATATATATATATATATA		FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding	3/6						chr7	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CATTTTTT others(12): Show CATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	276	0.0036	19	c.-40 others(38): Show c.-40-24178_-40-24177insAAAAAAAAAAAAAAAAAAT		FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2						chr17	TogoVar
FAM227A_chr22_38573118_38661392	38613084	A A	ATATATAT others(12): Show ATATATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG02015.hp2 others(19): Show HG00408.hp2 HG00673.hp2 HG02015.hp2 HG02083.hp2 HG02717.hp2 HG04184.hp1 NA18943.hp1 NA18960.hp1 NA18964.hp2 NA18974.hp2 NA18979.hp2 NA18988.hp2 NA18991.hp1 NA18994.hp2 NA19012.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp2 NA19086.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0004 a0002c0002t0015 a0002c0002t0020 others(3): Show a0002c0002t0004 a0002c0002t0015 a0002c0002t0020 a0002c0002t0025 a0002c0002t0026 a0002c0004t0046	a0002c0002t0004g0171 a0002c0002t0004g0178 a0002c0002t0004g0185 others(19): Show a0002c0002t0004g0171 a0002c0002t0004g0178 a0002c0002t0004g0185 a0002c0002t0004g0190 a0002c0002t0004g0191 a0002c0002t0004g0193 a0002c0002t0004g0200 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0212 a0002c0002t0004g0213 a0002c0002t0004g0214 a0002c0002t0015g0177 a0002c0002t0015g0187 a0002c0002t0015g0189 a0002c0002t0015g0209 a0002c0002t0020g0186 a0002c0002t0025g0192 a0002c0002t0025g0194 a0002c0002t0026g0195 a0002c0002t0026g0196 a0002c0004t0046g0210	22	328	0.0671	19	c.103 others(38): Show c.1039-5609_1039-5608insATTATATATAATATATATA		FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	11/16						chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	328	0.0031	19	c.727 others(34): Show c.727-589_727-588insATATATATATTTTTTTTTT		FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16						chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0185 a0002c0002t0004g0185	1	328	0.0031	19	c.727 others(34): Show c.727-589_727-588insATATATATATATATTTTTT		FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16						chr22	TogoVar
FAM227B_chr15_49321970_49625818	49489824	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp1 HG03688.hp1 others(1): Show HG02735.hp2 HG02738.hp1 HG03688.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0017g0094	4	294	0.0136	19	c.101 others(40): Show c.1012+18386_1012+18387insAAATATATATATATATATA		FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15						chr15	TogoVar
FAM228B_chr2_24118469_24174638	24166054	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp1 HG02280.hp2 others(6): Show HG01099.hp1 HG01169.hp1 HG02280.hp2 HG02572.hp2 HG02897.hp2 HG03471.hp1 NA18943.hp1 NA19004.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0100 a0001c0001t0001g0176 others(6): Show a0001c0001t0001g0077 a0001c0001t0001g0100 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0226 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0254	9	290	0.0310	19	c.933 others(36): Show c.933-1572_933-1571insATATATATATATATATATA		FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM241A_chr4_112140454_112200256	112150292	T T	TTCCATGT others(12): Show TTCCATGTATTTTGAAAGGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	388	0.0026	19	c.153 others(36): Show c.153+4560_153+4561insCCATGTATTTTGAAAGGCT		FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG01192.hp1 others(17): Show HG00741.hp2 HG01175.hp1 HG01192.hp1 HG01358.hp1 HG01517.hp2 HG01981.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02559.hp1 HG02735.hp1 HG02922.hp2 HG03017.hp1 HG03579.hp2 NA18947.hp2 NA18990.hp2 NA19077.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 others(6): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0052 a0001c0001t0054 a0001c0001t0060	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0014g0105 a0001c0001t0018g0015 a0001c0001t0018g0104 a0001c0001t0023g0111 a0001c0001t0024g0016 a0001c0001t0032g0035 a0001c0001t0052g0103 a0001c0001t0054g0001 a0001c0001t0060g0001	20	388	0.0516	19	c.10 others(32): Show c.10395_*10396insAAAAAAAAAAAAAAAAAAA		FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding					2078		chr4	TogoVar
FAM3D_chr3_58628946_58671774	58669186	A A	AGACCTTA others(12): Show AGACCTTAATTCCCCTTTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	398	0.0025	19	c.-26 others(30): Show c.-2650_-2649insGCAAAGGGGAATTAAGGTC		FAM3D	ENSG00000198643.7	transcript	ENST00000358781.7	protein_coding					2413		chr3	TogoVar
FAM43B_chr1_20547573_20560020	20550649	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA18945.hp2 HG02071.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	464	0.0043	19	c.-23 others(30): Show c.-2325_-2324insAAAAAAAAAAAAAAAAAAA		FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding					1923		chr1	TogoVar
FAM47B_chrX_34937796_34949915	34940869	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	331	0.0030	19	c.-19 others(30): Show c.-1963_-1962insGTGTGTGTGTGTGTGTGTG		FAM47B	ENSG00000189132.6	transcript	ENST00000329357.6	protein_coding					1926		chrX	TogoVar
FAM47E_chr4_76246721_76288783	76276356	T T	TTTTTGTT others(12): Show TTTTTGTTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0110 a0004c0004t0001g0110	1	392	0.0026	19	c.871 others(36): Show c.871-1709_871-1708insGTTTTGTTTTTTTTGTTTT		FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM50A_chrX_154439141_154455654	154448072	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01952.hp1 HG01978.hp1 others(11): Show HG01346.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02071.hp1 HG02647.hp1 HG02818.hp2 HG03041.hp2 HG03453.hp1 NA18906.hp1 NA18978.hp1 NA19005.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0002g0006 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0004g0006	14	275	0.0509	19	c.443 others(34): Show c.443-398_443-397insTTTTTTTTTTTTTTTTTTT		FAM50A	ENSG00000071859.15	transcript	ENST00000393600.8	protein_coding	4/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM72A_chr1_206181179_206207839	206203786	A A	ATCCCTCA others(12): Show ATCCCTCAGACCGCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	346	0.0029	19	c.-17 others(30): Show c.-1780_-1762dupGGGGGGGCGGTCTGAGGGA		FAM72A	ENSG00000196550.11	transcript	ENST00000367128.8	protein_coding					948		chr1	TogoVar
FAM83E_chr19_48594961_48620076	48596436	A A	ACTGTGAC others(12): Show ACTGTGACCTCTGCCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp1 others(16): Show HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0004 a0002c0001 a0003c0013 others(1): Show a0001c0004 a0002c0001 a0003c0013 a0005c0009	a0001c0004t0007 a0001c0004t0022 a0001c0004t0039 others(4): Show a0001c0004t0007 a0001c0004t0022 a0001c0004t0039 a0002c0001t0032 a0002c0001t0069 a0003c0013t0050 a0005c0009t0013	a0001c0004t0007g0019 a0001c0004t0007g0021 a0001c0004t0007g0022 others(16): Show a0001c0004t0007g0019 a0001c0004t0007g0021 a0001c0004t0007g0022 a0001c0004t0007g0023 a0001c0004t0007g0024 a0001c0004t0007g0025 a0001c0004t0007g0027 a0001c0004t0007g0028 a0001c0004t0007g0029 a0001c0004t0007g0030 a0001c0004t0007g0031 a0001c0004t0022g0234 a0001c0004t0022g0235 a0001c0004t0022g0236 a0001c0004t0039g0020 a0002c0001t0032g0241 a0002c0001t0069g0391 a0003c0013t0050g0176 a0005c0009t0013g0002	19	414	0.0459	19	c.46 others(30): Show c.4654_*4672dupCCGGGGGCAGAGGTCACAG		FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding					3524		chr19	TogoVar
FAM83E_chr19_48594961_48620076	48602704	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19067.hp1 HG00408.hp1 NA19067.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0047 a0003c0002t0001g0067 a0003c0002t0001g0047 a0003c0002t0001g0067	2	414	0.0048	19	c.117 others(36): Show c.1176+789_1176+790insATATATATATTTTTTTTTT		FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6						chr19	TogoVar
FAM83E_chr19_48594961_48620076	48614669	G G	GCCCCACC others(12): Show GCCCCACCCTCACCCATCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00642.hp1 others(34): Show HG00423.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01256.hp2 HG01257.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02132.hp2 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG03490.hp2 HG03834.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18966.hp2 NA18978.hp2 NA18980.hp2 NA18998.hp2 NA18999.hp1 NA19007.hp1 NA19011.hp2 NA19058.hp2 NA19063.hp2 NA19067.hp2 NA19085.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0007c0014 a0001c0003 a0007c0014	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0018 a0001c0003t0046 a0001c0003t0067 a0007c0014t0002	a0001c0003t0001g0369 a0001c0003t0002g0015 a0001c0003t0002g0016 others(32): Show a0001c0003t0001g0369 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0356 a0001c0003t0002g0358 a0001c0003t0002g0359 a0001c0003t0002g0361 a0001c0003t0002g0362 a0001c0003t0002g0364 a0001c0003t0002g0366 a0001c0003t0002g0368 a0001c0003t0002g0370 a0001c0003t0002g0371 a0001c0003t0002g0372 a0001c0003t0002g0374 a0001c0003t0002g0375 a0001c0003t0002g0376 a0001c0003t0002g0377 a0001c0003t0002g0378 a0001c0003t0002g0379 a0001c0003t0002g0381 a0001c0003t0002g0382 a0001c0003t0002g0383 a0001c0003t0002g0384 a0001c0003t0002g0386 a0001c0003t0002g0387 a0001c0003t0006g0360 a0001c0003t0006g0363 a0001c0003t0006g0380 a0001c0003t0010g0365 a0001c0003t0010g0385 a0001c0003t0018g0367 a0001c0003t0046g0373 a0001c0003t0067g0388 a0007c0014t0002g0357	37	414	0.0894	19	c.-12 others(36): Show c.-1256+20_-1256+38dupGGGATGGGTGAGGGTGGGG		FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	2/6						chr19	TogoVar

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Search Results (Total: 10000 hits)