Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0146 a0001c0004t0050g0146	1	154	0.0065	21	c.358 others(42): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131207491	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0119 a0002c0002t0003g0119	1	304	0.0033	21	c.702 others(38): Show c.702+7924_702+7944dupTTTTTTTTTTTTTTTTTTTTT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131207517	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	304	0.0033	21	c.702 others(38): Show c.702+7944_702+7945insTTTTTTTTTTTTTTTTTTTTA	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/7			chr6	TogoVar
AKIRIN2_chr6_87669860_87707233	87676627	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18994.hp1 HG04204.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0004 a0001c0001t0037	a0001c0001t0004g0313 a0001c0001t0037g0326 a0001c0001t0004g0313 a0001c0001t0037g0326	2	406	0.0049	21	c.530 others(36): Show c.530-697_530-696insGTGTGTGTGTGTGTGTGTGTG	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKNAD1_chr1_108810901_108862094	108839471	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01943.hp1 HG02258.hp2 others(10): Show HG01433.hp2 HG01943.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03130.hp1 HG03453.hp1 HG06807.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0010 a0033	a0001c0007 a0001c0011 a0002c0005 others(6): Show a0001c0007 a0001c0011 a0002c0005 a0003c0012 a0003c0013 a0003c0016 a0008c0010 a0010c0023 a0033c0070	a0001c0007t0001 a0001c0011t0003 a0002c0005t0001 others(8): Show a0001c0007t0001 a0001c0011t0003 a0002c0005t0001 a0002c0005t0003 a0003c0012t0003 a0003c0012t0004 a0003c0013t0001 a0003c0016t0003 a0008c0010t0004 a0010c0023t0001 a0033c0070t0003	a0001c0007t0001g0308 a0001c0011t0003g0066 a0002c0005t0001g0284 others(10): Show a0001c0007t0001g0308 a0001c0011t0003g0066 a0002c0005t0001g0284 a0002c0005t0003g0077 a0003c0012t0003g0067 a0003c0012t0003g0068 a0003c0012t0004g0069 a0003c0013t0001g0195 a0003c0016t0003g0070 a0003c0016t0003g0071 a0008c0010t0004g0073 a0010c0023t0001g0346 a0033c0070t0003g0100	13	398	0.0327	21	c.138 others(40): Show c.1380-1766_1380-1765insTTTTTTTTTCTTTTTTTTTTT	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	6/15			chr1	TogoVar
AKNA_chr9_114329156_114392982	114380981	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02809.hp2 others(1): Show HG02257.hp2 HG02572.hp1 HG02809.hp2 NA21309.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0016 a0003c0006t0044 a0003c0006t0016 a0003c0006t0044	a0003c0006t0016g0224 a0003c0006t0016g0225 a0003c0006t0016g0229 others(1): Show a0003c0006t0016g0224 a0003c0006t0016g0225 a0003c0006t0016g0229 a0003c0006t0044g0228	4	388	0.0103	21	c.274 others(34): Show c.274+78_274+79insTTTTTTTTTTTTTTTTTTTTT	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	2/21			chr9	TogoVar
AKNA_chr9_114329156_114392982	114380981	C C	CAGAAAAA others(14): Show CAGAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19043.hp2 HG01496.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0023 a0005c0005t0024 a0005c0005t0023 a0005c0005t0024	a0005c0005t0023g0101 a0005c0005t0024g0182 a0005c0005t0023g0101 a0005c0005t0024g0182	2	388	0.0052	21	c.274 others(34): Show c.274+78_274+79insTTTTTTTTTTTTTTTTTTTCT	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	2/21			chr9	TogoVar
AKR1C3_chr10_5089414_5112686	5108343	T T	TATGTGTA others(14): Show TATGTGTACAATGTATGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	21	c.84 others(30): Show c.840_*841insATGTGTACAATGTATGTGTGC	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding		658		chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5108382	G G	GTGTGCAT others(14): Show GTGTGCATATGTGTACAATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(240): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0001c0014 a0002c0002 others(6): Show a0001c0001 a0001c0014 a0002c0002 a0002c0003 a0002c0008 a0003c0004 a0005c0007 a0007c0010 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0002c0008t0002 a0003c0004t0001 a0005c0007t0002 a0007c0010t0002 a0008c0013t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0014t0002g0075 a0002c0002t0001g0013 a0002c0003t0002g0006 a0002c0003t0002g0014 a0002c0003t0002g0040 a0002c0003t0002g0125 a0002c0003t0003g0030 a0002c0003t0003g0124 a0002c0008t0002g0017 a0002c0008t0002g0128 a0002c0008t0002g0129 a0002c0008t0002g0130 a0003c0004t0001g0004 a0003c0004t0001g0021 a0003c0004t0001g0102 a0003c0004t0001g0103 a0005c0007t0002g0015 a0005c0007t0002g0059 a0005c0007t0002g0061 a0005c0007t0002g0062 a0005c0007t0002g0074 a0007c0010t0002g0002 a0008c0013t0002g0002	243	438	0.5548	21	c.87 others(30): Show c.879_*880insTGTGCATATGTGTACAATGTA	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding		697		chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG03927.hp1 HG03942.hp1 HG01258.hp2 HG03927.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0018 a0001c0001t0001g0102	3	434	0.0069	21	c.26 others(32): Show c.2641_*2642insAAAAAAAAAAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138118734	T T	TGAAGGAA others(14): Show TGAAGGAAGGAAGGGGAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02109.hp1 others(23): Show HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 others(8): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0039 a0001c0001t0048 a0001c0001t0053 a0001c0001t0064 a0001c0002t0026	a0001c0001t0011g0112 a0001c0001t0011g0113 a0001c0001t0011g0114 others(23): Show a0001c0001t0011g0112 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0011g0115 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0011g0220 a0001c0001t0013g0108 a0001c0001t0013g0176 a0001c0001t0013g0360 a0001c0001t0013g0361 a0001c0001t0016g0165 a0001c0001t0016g0175 a0001c0001t0016g0198 a0001c0001t0021g0349 a0001c0001t0021g0350 a0001c0001t0023g0095 a0001c0001t0023g0141 a0001c0001t0030g0105 a0001c0001t0030g0353 a0001c0001t0039g0363 a0001c0001t0048g0219 a0001c0001t0053g0111 a0001c0001t0064g0354 a0001c0002t0026g0048 a0001c0002t0026g0049	26	426	0.0610	21	c.20 others(32): Show c.2072_*2073insGAAGGAAGGAAGGGGAAAAAG	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding		430		chr7	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	301	0.0033	21	c.172 others(38): Show c.172+8939_172+8940insATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02572.hp2 HG01261.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0295 a0001c0001t0020g0286 a0001c0001t0005g0295 a0001c0001t0020g0286	2	301	0.0066	21	c.172 others(38): Show c.172+8939_172+8940insAAATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686652	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01346.hp2 others(9): Show HG01109.hp2 HG01255.hp2 HG01346.hp2 HG01433.hp1 HG01891.hp2 HG02280.hp1 HG02818.hp1 HG02895.hp2 HG02976.hp1 HG03239.hp2 NA18970.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0001t0022 a0001c0001t0036	a0001c0001t0001g0078 a0001c0001t0001g0148 a0001c0001t0001g0210 others(9): Show a0001c0001t0001g0078 a0001c0001t0001g0148 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0004g0020 a0001c0001t0005g0297 a0001c0001t0017g0043 a0001c0001t0022g0300 a0001c0001t0036g0029	12	301	0.0399	21	c.172 others(38): Show c.172+8938_172+8939insTATATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243815776	A A	AGTTGTTG others(14): Show AGTTGTTGTTGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00609.hp1 others(49): Show HG00140.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03942.hp2 HG04228.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18960.hp1 NA18974.hp1 NA18983.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19065.hp1 NA19077.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048	a0001c0001t0001g0065 a0001c0001t0001g0172 a0001c0001t0001g0208 others(49): Show a0001c0001t0001g0065 a0001c0001t0001g0172 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0252 a0001c0001t0002g0036 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0170 a0001c0001t0002g0184 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0279 a0001c0001t0004g0017 a0001c0001t0007g0059 a0001c0001t0007g0190 a0001c0001t0007g0266 a0001c0001t0007g0280 a0001c0001t0008g0071 a0001c0001t0008g0169 a0001c0001t0008g0171 a0001c0001t0008g0192 a0001c0001t0010g0080 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0010g0164 a0001c0001t0012g0009 a0001c0001t0012g0012 a0001c0001t0013g0011 a0001c0001t0018g0191 a0001c0001t0026g0136 a0001c0001t0027g0186 a0001c0001t0040g0185 a0001c0001t0043g0068 a0001c0001t0044g0058 a0001c0001t0047g0139 a0001c0001t0048g0067	52	301	0.1728	21	c.46+ others(38): Show c.46+27328_46+27348dupAACAACAACAACAACAACAAC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKTIP_chr16_53486040_53508209	53498681	T T	TGGAATTA others(14): Show TGGAATTACTCCTTTACAAGCA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	386	0.0026	21	c.43- others(33): Show c.43-106_43-86dupTGCTTGTAAAGGAGTAATTCC	AKTIP	ENSG00000166971.17	transcript	ENST00000394657.12	protein_coding	2/9			chr16	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	446	0.0022	21	c.65 others(32): Show c.6539_*6540insAAAAAAAAAAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0260 a0004c0007t0001g0260	1	378	0.0027	21	c.73+ others(34): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALCAM_chr3_105361909_105581900	105563667	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01884.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0316 a0001c0001t0013g0298 a0001c0001t0001g0316 a0001c0001t0013g0298	2	378	0.0053	21	c.166 others(40): Show c.1665-8174_1665-8154dupTTTTTTTTTTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH1A2_chr15_57948429_58070711	57958220	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0031 a0002c0002t0003g0031	1	326	0.0031	21	c.148 others(40): Show c.1484+2549_1484+2550insGTGTGTGTGTGTGTGTGTGTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19010.hp2 NA18949.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0121 a0001c0001t0003g0122	2	386	0.0052	21	c.194 others(36): Show c.194-839_194-838insATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02735.hp2 NA18985.hp1 HG00733.hp1 HG02735.hp2 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0036 a0001c0002t0002 a0001c0002t0036	a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0036g0154 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0036g0154	3	386	0.0078	21	c.194 others(36): Show c.194-839_194-838insAAATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02132.hp2 HG00558.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0097 a0001c0002t0002g0305 a0001c0001t0003g0097 a0001c0002t0002g0305	2	386	0.0052	21	c.194 others(36): Show c.194-839_194-838insAAAAAAATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	386	0.0026	21	c.194 others(36): Show c.194-839_194-838insAAAAAAAAATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105088569	A A	AAACAACA others(14): Show AAACAACAACAACAACAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA18951.hp2 NA18952.hp2 others(6): Show HG00408.hp2 NA18951.hp2 NA18952.hp2 NA18970.hp1 NA18977.hp2 NA18992.hp1 NA19060.hp2 NA19078.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0316 a0001c0001t0004g0328 a0001c0001t0005g0317 others(6): Show a0001c0001t0003g0316 a0001c0001t0004g0328 a0001c0001t0005g0317 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0327 a0001c0001t0005g0330 a0001c0001t0005g0331	9	386	0.0233	21	c.-41 others(32): Show c.-4154_-4134dupGTTGTTGTTGTTGTTGTTGTT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding		4112		chr12	TogoVar
ALDH3B1_chr11_68005327_68034276	68030111	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	374	0.0027	21	c.21 others(32): Show c.2172_*2173insAAAAAAAAAAAAAAAAAAAAA	ALDH3B1	ENSG00000006534.17	transcript	ENST00000342456.11	protein_coding		836		chr11	TogoVar
ALDH5A1_chr6_24489969_24542207	24508361	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18984.hp2 NA19058.hp2 others(1): Show NA18977.hp1 NA18984.hp2 NA19058.hp2 NA19072.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0033 a0003c0003t0001 a0003c0003t0033	a0003c0003t0001g0026 a0003c0003t0001g0035 a0003c0003t0001g0043 others(1): Show a0003c0003t0001g0026 a0003c0003t0001g0035 a0003c0003t0001g0043 a0003c0003t0033g0034	4	368	0.0109	21	c.726 others(38): Show c.726+3383_726+3403dupAAAAAAAAAAAAAAAAAAAAA	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALG12_chr22_49895229_49923438	49911920	A A	AATGCCCA others(14): Show AATGCCCAACAATCTCAACCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0023 a0004c0009t0023	a0004c0009t0023g0178 a0004c0009t0023g0178	1	348	0.0029	21	c.296 others(38): Show c.296-1334_296-1314dupGGGGTTGAGATTGTTGGGCAT	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	3/9			chr22	TogoVar
ALG8_chr11_78095946_78144626	78143317	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	402	0.0025	21	c.-37 others(32): Show c.-3730_-3729insGTGTGTGTGTGTGTGTGTGTG	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding		3692		chr11	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01952.hp1 HG02723.hp1 others(6): Show HG00741.hp1 HG01952.hp1 HG02723.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03942.hp2 NA18522.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0007 a0007c0009 a0001c0001 a0005c0007 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0005c0007t0009 a0007c0009t0002	a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0002g0139 others(6): Show a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0002g0139 a0001c0001t0003g0292 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0013g0153 a0005c0007t0009g0286 a0007c0009t0002g0131	9	314	0.0287	21	c.895 others(38): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH1_chr14_77667404_77713023	77680677	C C	CTCTTTTT others(14): Show CTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	360	0.0028	21	c.456 others(36): Show c.456-708_456-707insAAAAAAAAAAAAAAAAAAAGA	ALKBH1	ENSG00000100601.10	transcript	ENST00000216489.8	protein_coding	3/5			chr14	TogoVar
ALK_chr2_29187774_29926586	29203485	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02257.hp1 HG02280.hp2	a0002 a0002	a0002c0008 a0002c0052 a0002c0008 a0002c0052	a0002c0008t0001 a0002c0052t0001 a0002c0008t0001 a0002c0052t0001	a0002c0008t0001g0044 a0002c0052t0001g0017 a0002c0008t0001g0044 a0002c0052t0001g0017	2	80	0.0250	21	c.393 others(40): Show c.3938+3665_3938+3685dupAAAAAAAAAAAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3656773	C C	CGGTGTGG others(14): Show CGGTGTGGAGGGCAGAGGTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	274	0.0037	21	c.-15 others(32): Show c.-1584_-1583insGGTGTGGAGGGCAGAGGTCAG	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		1426		chr2	TogoVar
ALLC_chr2_3653200_3707671	3656788	A A	AGGTCAGG others(14): Show AGGTCAGGGTGTGGAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG01884.hp2 others(21): Show HG01106.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02895.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0005 a0002c0013 others(3): Show a0001c0001 a0002c0005 a0002c0013 a0003c0003 a0004c0004 a0006c0006	a0001c0001t0001 a0002c0005t0002 a0002c0013t0002 others(4): Show a0001c0001t0001 a0002c0005t0002 a0002c0013t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0006c0006t0001	a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0036 others(21): Show a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0260 a0001c0001t0001g0261 a0002c0005t0002g0041 a0002c0013t0002g0030 a0003c0003t0001g0026 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0027 a0003c0003t0002g0029 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0035 a0003c0003t0002g0042 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0037 a0006c0006t0001g0033	24	274	0.0876	21	c.-15 others(32): Show c.-1569_-1568insGGTCAGGGTGTGGAGGGCAGG	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		1411		chr2	TogoVar
ALLC_chr2_3653200_3707671	3690284	C C	CCCCTCCC others(14): Show CCCCTCCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	274	0.0037	21	c.512 others(38): Show c.512-5430_512-5429insTCCCCCTCCCCTCCCCCTCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01257.hp2 HG03669.hp1 others(5): Show HG01169.hp2 HG01257.hp2 HG03669.hp1 HG03688.hp2 NA18940.hp1 NA18967.hp2 NA18985.hp1 NA19004.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0005 a0002c0002 a0023c0043 a0001c0005 a0002c0002 a0023c0043	a0001c0005t0002 a0002c0002t0002 a0023c0043t0002 a0001c0005t0002 a0002c0002t0002 a0023c0043t0002	a0001c0005t0002g0020 a0001c0005t0002g0030 a0002c0002t0002g0005 others(5): Show a0001c0005t0002g0020 a0001c0005t0002g0030 a0002c0002t0002g0005 a0002c0002t0002g0030 a0002c0002t0002g0033 a0002c0002t0002g0052 a0002c0002t0002g0232 a0023c0043t0002g0020	8	470	0.0170	21	c.71 others(30): Show c.718_*719insAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(14): Show TAAAAAAAAGAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02809.hp2 others(5): Show HG02258.hp1 HG02486.hp2 HG02809.hp2 HG02818.hp1 HG03130.hp2 NA18522.hp2 NA19240.hp2 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0008 a0009c0051 a0001c0008 a0009c0051	a0001c0008t0001 a0001c0008t0002 a0009c0051t0001 a0001c0008t0001 a0001c0008t0002 a0009c0051t0001	a0001c0008t0001g0238 a0001c0008t0001g0243 a0001c0008t0002g0041 others(2): Show a0001c0008t0001g0238 a0001c0008t0001g0243 a0001c0008t0002g0041 a0001c0008t0002g0072 a0009c0051t0001g0237	8	470	0.0170	21	c.71 others(30): Show c.718_*719insAAAAAAAAGAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(38): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00738.hp1 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01934.hp1 HG02109.hp1 HG02280.hp1 HG03041.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18962.hp2 NA18968.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18998.hp1 NA19000.hp2 NA19057.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19085.hp2 NA19090.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0010 a0014 a0022	a0001c0005 a0002c0002 a0007c0012 others(4): Show a0001c0005 a0002c0002 a0007c0012 a0007c0034 a0010c0018 a0014c0022 a0022c0042	a0001c0005t0004 a0002c0002t0002 a0002c0002t0006 others(6): Show a0001c0005t0004 a0002c0002t0002 a0002c0002t0006 a0002c0002t0011 a0007c0012t0002 a0007c0034t0002 a0010c0018t0002 a0014c0022t0002 a0022c0042t0002	a0001c0005t0004g0002 a0001c0005t0004g0014 a0001c0005t0004g0015 others(33): Show a0001c0005t0004g0002 a0001c0005t0004g0014 a0001c0005t0004g0015 a0001c0005t0004g0029 a0001c0005t0004g0091 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0119 a0002c0002t0006g0008 a0002c0002t0006g0016 a0002c0002t0011g0113 a0007c0012t0002g0090 a0007c0012t0002g0115 a0007c0012t0002g0116 a0007c0034t0002g0117 a0010c0018t0002g0035 a0014c0022t0002g0047 a0014c0022t0002g0051 a0022c0042t0002g0112	41	470	0.0872	21	c.17 others(32): Show c.1741_*1742insAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALOX5_chr10_45369216_45451117	45384833	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0312 a0001c0008t0002g0312	1	345	0.0029	21	c.349 others(38): Show c.349+2157_349+2177dupATTATTATTATTATTATTATT	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG02735.hp2 others(9): Show HG00597.hp2 HG01099.hp2 HG02735.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 NA18951.hp2 NA18995.hp2 NA19002.hp1 NA19081.hp2 NA19084.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0005 a0006c0011 a0001c0001 a0002c0005 a0006c0011	a0001c0001t0001 a0002c0005t0001 a0006c0011t0001 a0001c0001t0001 a0002c0005t0001 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0005t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0002c0005t0001g0005 a0006c0011t0001g0012	12	410	0.0293	21	c.32 others(32): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(14): Show AAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18964.hp1 NA19060.hp2 HG01243.hp1 NA18964.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0001 a0001c0001t0001g0031	3	410	0.0073	21	c.33 others(32): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(14): Show AAGAAGAAGAAGAAGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02886.hp2 NA18947.hp2 others(2): Show HG02486.hp1 HG02886.hp2 NA18947.hp2 NA18971.hp2 NA18974.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0024c0032 a0001c0001 a0024c0032	a0001c0001t0001 a0024c0032t0001 a0001c0001t0001 a0024c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0024c0032t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0020 a0024c0032t0001g0001	5	410	0.0122	21	c.33 others(32): Show c.3320_*3321insAGAAGAAGAAGAAGAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
AMACR_chr5_33981165_34013050	33991726	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02523.hp1 NA19000.hp1 HG02027.hp2 HG02523.hp1 NA19000.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0001 a0004c0004t0006 a0005c0005t0001 a0004c0004t0001 a0004c0004t0006 a0005c0005t0001	a0004c0004t0001g0128 a0004c0004t0006g0125 a0005c0005t0001g0152 a0004c0004t0001g0128 a0004c0004t0006g0125 a0005c0005t0001g0152	3	438	0.0069	21	c.740 others(38): Show c.740-2245_740-2225dupTAATAATAATAATAATAATAA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	4/4			chr5	TogoVar
AMBN_chr4_70587256_70612288	70588172	A A	ATGTCTAA others(14): Show ATGTCTAAACTCATCAAGATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	480	0.0021	21	c.-41 others(32): Show c.-4187_-4186insTGTCTAAACTCATCAAGATGT	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		4083		chr4	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02451.hp1 HG01074.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0137 a0001c0001t0001g0077 a0001c0001t0001g0137	2	160	0.0125	21	c.207 others(42): Show c.2072+14447_2072+14467dupTTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46568803	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	160	0.0063	21	c.-12 others(42): Show c.-120-20324_-120-20304dupAAAAAAAAAAAAAAAAAAAAA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0031	1	160	0.0063	21	c.-12 others(40): Show c.-121+8132_-121+8133insATATATATATATTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	160	0.0063	21	c.-12 others(40): Show c.-121+8132_-121+8133insATATATATATATATATATATA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMD1_chr6_110869785_110900713	110876797	T T	TAACCTAG others(14): Show TAACCTAGAAAATCTTGGCAAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02486.hp2 HG02647.hp1 others(2): Show HG01433.hp1 HG02486.hp2 HG02647.hp1 HG02965.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	5	394	0.0127	21	c.110 others(38): Show c.110+1600_110+1620dupCAAGAACCTAGAAAATCTTGG	AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
AMDHD1_chr12_95938331_95973720	95971936	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0091 a0002c0003t0009g0091	1	404	0.0025	21	c.40 others(32): Show c.4093_*4094insTTTTTTTTTTTTTTTTTTTTT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding		3217		chr12	TogoVar

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