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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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
COX19_chr7_959852_980549	960417	AGATGGCG others(40): Show AGATGGCGGGTGCTGTGGGAACTGACAGGAGCCAGGCACAGAGGGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(90): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03225.hp1 HG03486.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19059.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19091.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 others(10): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 a0001c0001t0034 a0001c0001t0042 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0065 a0001c0001t0070 a0001c0001t0071 a0001c0001t0078	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0013 others(23): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0043 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0137 a0001c0001t0014g0018 a0001c0001t0014g0112 a0001c0001t0027g0135 a0001c0001t0034g0044 a0001c0001t0042g0050 a0001c0001t0054g0097 a0001c0001t0056g0105 a0001c0001t0057g0106 a0001c0001t0059g0107 a0001c0001t0065g0108 a0001c0001t0070g0109 a0001c0001t0071g0110 a0001c0001t0078g0111	93	432	0.2153	-47	c.89 others(58): Show c.8914_*8960delCGACCCTCTGTGCCTGGCTCCTGTCAGTTCCCAC AGCACCCGCCATC		COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding					4434		chr7	TogoVar
CPED1_chr7_120983711_121302442	121047670	CTTCTTCT others(40): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01192.hp2 others(2): Show HG01070.hp1 HG01074.hp2 HG01192.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	5	140	0.0357	-47	c.540 others(62): Show c.540+680_540+726delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTTT		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CRADD_chr12_93672375_93855756	93851215	TCAGCAAT others(40): Show TCAGCAATGCTGTGGGGCAGTGGGCAAGGTGGTTCACCTCCTTCTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	248	0.0040	-47	c.94 others(56): Show c.945_*991delCAGCAATGCTGTGGGGCAGTGGGCAAGGTGGTTCAC CTCCTTCTGTA		CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding					460		chr12	TogoVar
CRISP2_chr6_49687359_49718543	49701616	ATATATAC others(40): Show ATATATACATTATATATGTATACATTATATATGTATACATTATATATG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	410	0.0024	-47	c.67- others(60): Show c.67-879_67-833delCATATATAATGTATACATATATAATGTATACA TATATAATGTATATA		CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9						chr6	TogoVar
CRLF2_chrX_1185490_1217649	1200649	ATGTGTGG others(40): Show ATGTGTGGGTATATATATGTGTATATAAGCTGTGTGTGTGTGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(92): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0008 a0011 a0014 a0016 a0020 a0021 a0024 a0025	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011 a0002c0004 a0002c0005 a0002c0006 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0003c0014 a0003c0024 a0004c0012 a0008c0017 a0011c0032 a0014c0027 a0016c0030 a0020c0035 a0021c0036 a0024c0019 a0025c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0011t0003 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0006t0001 a0002c0006t0002 a0002c0009t0001 a0002c0010t0001 a0002c0013t0002 a0002c0015t0001 a0003c0014t0001 a0003c0024t0001 a0004c0012t0004 a0008c0017t0002 a0011c0032t0001 a0014c0027t0007 a0016c0030t0003 a0020c0035t0001 a0021c0036t0011 a0024c0019t0002 a0025c0018t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 others(92): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0002g0089 a0001c0002t0001g0085 a0001c0002t0002g0009 a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0002g0048 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0090 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0005g0052 a0001c0002t0005g0081 a0001c0002t0010g0166 a0001c0003t0001g0006 a0001c0003t0001g0016 a0001c0003t0001g0021 a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0041 a0001c0003t0001g0050 a0001c0003t0001g0098 a0001c0003t0001g0107 a0001c0003t0003g0066 a0001c0003t0003g0104 a0001c0007t0001g0018 a0001c0007t0001g0039 a0001c0007t0001g0040 a0001c0007t0001g0062 a0001c0007t0001g0075 a0001c0007t0001g0083 a0001c0007t0001g0112 a0001c0008t0001g0145 a0001c0008t0001g0155 a0001c0008t0001g0158 a0001c0011t0001g0151 a0001c0011t0001g0160 a0001c0011t0003g0156 a0002c0004t0001g0017 a0002c0004t0001g0034 a0002c0004t0001g0051 a0002c0004t0001g0076 a0002c0004t0001g0080 a0002c0004t0001g0082 a0002c0004t0001g0087 a0002c0004t0001g0091 a0002c0005t0001g0037 a0002c0005t0001g0064 a0002c0005t0001g0078 a0002c0005t0001g0086 a0002c0005t0001g0118 a0002c0005t0001g0129 a0002c0005t0002g0013 a0002c0006t0001g0097 a0002c0006t0002g0060 a0002c0006t0002g0069 a0002c0009t0001g0033 a0002c0009t0001g0044 a0002c0009t0001g0057 a0002c0009t0001g0125 a0002c0010t0001g0157 a0002c0013t0002g0139 a0002c0015t0001g0099 a0003c0014t0001g0024 a0003c0014t0001g0036 a0003c0024t0001g0121 a0004c0012t0004g0074 a0008c0017t0002g0001 a0011c0032t0001g0029 a0014c0027t0007g0068 a0016c0030t0003g0126 a0020c0035t0001g0135 a0021c0036t0011g0167 a0024c0019t0002g0003 a0025c0018t0001g0002	95	167	0.5689	-47	c.483 others(64): Show c.483+1706_483+1752delCATATACACACACACACAGCTTATATAC ACATATATATACCCACACA		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	4/7						chrX	TogoVar
CRYBB3_chr22_25194858_25212359	25207795	CCATTCAT others(40): Show CCATTCATTCATCCATCCAACTACCTACCACCCATTCATCCATCCATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp2 others(99): Show HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03490.hp2 HG03579.hp2 HG03704.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0003g0006 a0002c0002t0001g0095 a0003c0003t0001g0027 a0003c0003t0001g0037 a0006c0006t0001g0025	102	454	0.2247	-47	c.58 others(56): Show c.584_*630delCATTCATTCATCCATCCAACTACCTACCACCCATTC ATCCATCCATG		CRYBB3	ENSG00000100053.10	transcript	ENST00000215855.7	protein_coding					437		chr22	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666995	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0042 a0002c0012t0042	a0002c0012t0042g0091 a0002c0012t0042g0091	1	238	0.0042	-47	c.-39 others(68): Show c.-391-65177_-391-65131delTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTTCTTTCTTT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667003	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0081 a0002c0003t0046g0081	1	238	0.0042	-47	c.-39 others(68): Show c.-391-65185_-391-65139delTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTTCTTTCTTT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSK_chr15_74777080_74808197	74782719	AGGTGAGT others(40): Show AGGTGAGTGCCTGGCCGTCCCGGAGTGTCCCCTGGAGGGAAGAGGGTG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0052	1	394	0.0025	-47	c.-66 others(59): Show c.-66+1_-66+47delGTGAGTGCCTGGCCGTCCCGGAGTGTCCCCTGG AGGGAAGAGGGTGG		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	4920887	AAAAGAAA others(40): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0030 a0030	a0030c0052 a0030c0052	a0030c0052t0049 a0030c0052t0049	a0030c0052t0049g0098 a0030c0052t0049g0098	1	126	0.0079	-47	c.85+ others(64): Show c.85+73398_85+73444delCTCTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542645	TATATATA others(40): Show TATATATATATATATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02004.hp1 HG01993.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0046 a0001c0001t0001g0068	2	390	0.0051	-47	c.230 others(64): Show c.230+7383_230+7429delTATATATATATATATATATACATATATA TATATATATATATATATAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542648	ATATATAT others(40): Show ATATATATATATATATATATATATGTATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0098 a0001c0001t0026g0098	1	390	0.0026	-47	c.230 others(64): Show c.230+7380_230+7426delAAATATATATATATATATATATACATAT ATATATATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64277779	TAATATAT others(40): Show TAATATATTAATATTGATATATTTAATATATTAATATTGATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp1 HG02280.hp2 others(9): Show HG01109.hp2 HG01169.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03453.hp1 HG03579.hp1 NA18957.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 others(6): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0002t0001	a0001c0001t0009g0005 a0001c0001t0010g0115 a0001c0001t0010g0120 others(9): Show a0001c0001t0009g0005 a0001c0001t0010g0115 a0001c0001t0010g0120 a0001c0001t0010g0122 a0001c0001t0011g0106 a0001c0001t0012g0116 a0001c0001t0012g0119 a0001c0001t0017g0135 a0001c0001t0018g0136 a0001c0001t0019g0123 a0001c0001t0023g0121 a0001c0002t0001g0055	12	176	0.0682	-47	c.182 others(66): Show c.182-18585_182-18539delTAAATATATCAATATTAATATATTAA ATATATCAATATTAATATATT		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11						chr15	TogoVar
CSRNP3_chr2_165464698_165694407	165666956	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAAGAGAGAGAGGAAGAAAGAAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0101 a0001c0002t0021g0101	1	246	0.0041	-47	c.408 others(64): Show c.408+8985_408+9031delGGAAGGAAGGAAGGAAAGAGAGAGAGGA AGAAAGAAAGAGAGAGAGA		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CST9L_chr20_23559732_23573484	23561021	TTCTTTCC others(40): Show TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-47	c.38 others(58): Show c.3880_*3926delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGA		CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding					3710		chr20	TogoVar
CTAGE8_chr7_144261674_144274288	144265127	CACACACA others(40): Show CACACACACACTCTCTCTCTCTCTCCTGGTTTTGGTATCACTGTAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0057 a0057	a0057c0029 a0057c0029	a0057c0029t0002 a0057c0029t0002	a0057c0029t0002g0000 a0057c0029t0002g0000	1	152	0.0066	-47	c.17 others(58): Show c.1743_*1789delTATTACAGTGATACCAAAACCAGGAGAGAGAGAG AGAGTGTGTGTGT		CTAGE8	ENSG00000289604.1	transcript	ENST00000487179.2	protein_coding					1546		chr7	TogoVar
CTDP1_chr18_79674803_79759503	79742143	AGGTGGAG others(40): Show AGGTGGAGGCCTGGGGGCAGCAGAGGAAGCATGAAGCATGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0005 a0005c0015t0005	a0005c0015t0005g0369 a0005c0015t0005g0369	1	378	0.0027	-47	c.274 others(66): Show c.2747+5623_2747+5669delGGTGGAGGCCTGGGGGCAGCAGAGGA AGCATGAAGCATGAGAGAGAG		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12						chr18	TogoVar
CTSS_chr1_150725188_150770778	150744136	ATGTACAC others(40): Show ATGTACACATAATATTTATATATTATATGTATATTATGTATACATAAT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	344	0.0029	-47	c.896 others(64): Show c.896+3594_896+3640delATTATGTATACATAATATACATATAATA TATAAATATTATGTGTACA		CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7						chr1	TogoVar
CUL1_chr7_148693903_148806110	148801521	CCGGGACA others(40): Show CCGGGACACGGCAGAGCCTGCTCGTCCATGCTTCTCCGATTGTGGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0104 a0001c0001t0001g0105	2	338	0.0059	-47	c.94 others(56): Show c.940_*986delCGGGACACGGCAGAGCCTGCTCGTCCATGCTTCTCC GATTGTGGGCT		CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding					412		chr7	TogoVar
CYB5R3_chr22_42612840_42654392	42640334	GACCCTGC others(40): Show GACCCTGCGTGGTTCACTTATTTATTTATTTATTTATTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0147 a0001c0001t0025g0147	1	360	0.0028	-47	c.22- others(62): Show c.22-3535_22-3489delTAAATAAATAAATAAATAAATAAATAAATA AGTGAACCACGCAGGGT		CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	1/8						chr22	TogoVar
CYP7B1_chr8_64585851_64803737	64685859	CATCCGGG others(40): Show CATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0080 a0001c0001t0022g0080	1	258	0.0039	-47	c.123 others(66): Show c.123-61367_123-61321delCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAT		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5						chr8	TogoVar
CYSLTR2_chr13_48648929_48716226	48709744	AAGAGATT others(40): Show AAGAGATTAAACCAAGATAGAGGAAAACACAGTAGCTGGGAAACAAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0252 a0001c0001t0017g0252	1	318	0.0031	-47	c.18 others(58): Show c.1888_*1934delGAGATTAAACCAAGATAGAGGAAAACACAGTAGC TGGGAAACAAGGA		CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding	5/5				1888	INFO_REALIGN_3_PRIME	chr13	TogoVar
CYTH3_chr7_6156779_6277624	6259743	AATATATA others(40): Show AATATATATATATATTATATATATATATATTATATATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0024 a0001c0001t0049g0024	1	348	0.0029	-47	c.34+ others(64): Show c.34+12684_34+12730delATATATTATATATATATAATATATATAT ATATAATATATATATATAT		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12						chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241766759	GGGAGATG others(40): Show GGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0067	1	412	0.0024	-47	c.130 others(64): Show c.1307-950_1307-904delGGAGATGGGAGCCCCGGGCTGAGGGAGT AGGAAGAGGGGGGAGAACT		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9						chr2	TogoVar
DAPK1_chr9_87492867_87713634	87606680	GTCCCTCC others(40): Show GTCCCTCCCTCTCTCCTTCCTTCCTTCCTTCCTCCCTCTCTCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG02886.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0019 a0002c0040 a0001c0019 a0002c0040	a0001c0019t0001 a0002c0040t0001 a0001c0019t0001 a0002c0040t0001	a0001c0019t0001g0195 a0002c0040t0001g0029 a0001c0019t0001g0195 a0002c0040t0001g0029	2	236	0.0085	-47	c.284 others(64): Show c.284+1532_284+1578delCTTCCTCCCTCTCTCTCTCCCTCCCTCC CTCTCTCCTTCCTTCCTTC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPP1_chr4_99811827_99875190	99863495	ATGAGAGA others(40): Show ATGAGAGAAAAATATACCTCTCTTCCATGTGTTAAAATCCATCTTCAT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	366	0.0027	-47	c.601 others(62): Show c.601-274_601-228delTGAGAGAAAAATATACCTCTCTTCCATGTG TTAAAATCCATCTTCAT		DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	6/8						chr4	TogoVar
DCAF6_chr1_167931683_168080836	168008833	GCCCTGCC others(40): Show GCCCTGCCCTGCCCTCCCCCGCCCCACCCCGCCTCCACCCTGCCCCCA	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	266	0.0038	-47	c.137 others(66): Show c.1378+4044_1378+4090delTGCCCTGCCCTCCCCCGCCCCACCCC GCCTCCACCCTGCCCCCACCC		DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
DCBLD2_chr3_98790941_98906695	98850818	CAACTGCA others(40): Show CAACTGCATTTCCATATATGCTAGTGCAATCTGAAATGAAATTTTTAA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0036 a0001c0002t0012g0036	1	330	0.0030	-47	c.434 others(64): Show c.434-1267_434-1221delTTAAAAATTTCATTTCAGATTGCACTAG CATATATGGAAATGCAGTT		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15						chr3	TogoVar
DCD_chr12_54639589_54653365	54651490	AGTAGCTG others(40): Show AGTAGCTGGGACTACAGGCACCCACCACCACCCCTGGCTAATTTTTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	428	0.0023	-47	c.-32 others(58): Show c.-3234_-3188delACAAAAATTAGCCAGGGGTGGTGGTGGGTGCCTG TAGTCCCAGCTAC		DCD	ENSG00000161634.12	transcript	ENST00000293371.11	protein_coding					3126		chr12	TogoVar
DCLK2_chr4_150073445_150262438	150239917	GAGAAAGG others(40): Show GAGAAAGGTCTGTTTTGTTGCTATTGCTGCTTGTGTATACAGTTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0109 a0002c0006t0006g0109	1	116	0.0086	-47	c.170 others(64): Show c.1700+132_1700+178delTGGTAAGAAAGGTCTGTTTTGTTGCTAT TGCTGCTTGTGTATACAGT		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
DDO_chr6_110386784_110420575	110419583	TTGCTTAA others(40): Show TTGCTTAAGATGTTCTTCAGATCCTCAATTTCAGCAGAATGGCTGACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	422	0.0024	-47	c.-41 others(58): Show c.-4168_-4122delTGTCAGCCATTCTGCTGAAATTGAGGATCTGAAG AACATCTTAAGCA		DDO	ENSG00000203797.12	transcript	ENST00000368924.9	protein_coding					4009		chr6	TogoVar
DDX51_chr12_132131594_132149319	132149121	TGCCGCCG others(40): Show TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0018 a0004c0012t0013g0018	1	334	0.0030	-47	c.-48 others(58): Show c.-4872_-4826delGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GTGAGGCGGCGGC		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4803		chr12	TogoVar
DEFB124_chr20_31460471_31480127	31471317	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02630.hp2 others(7): Show HG02145.hp2 HG02451.hp1 HG02630.hp2 HG02896.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0133 a0001c0001t0002g0134 others(6): Show a0001c0001t0002g0036 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0148	10	362	0.0276	-47	c.58+ others(62): Show c.58+1592_58+1638delTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGG		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEFB124_chr20_31460471_31480127	31471356	GGGGGCTG others(40): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	362	0.0028	-47	c.58+ others(62): Show c.58+1553_58+1599delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCC		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DGCR2_chr22_19031286_19127412	19084668	TGGGGGTC others(40): Show TGGGGGTCAGCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00558.hp2 others(51): Show HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01169.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02074.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG03130.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18957.hp1 NA18964.hp1 NA18965.hp1 NA18982.hp1 NA18985.hp2 NA18995.hp1 NA19060.hp2 NA19080.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0018 others(3): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0018 a0002c0002t0025 a0002c0002t0041 a0002c0002t0042	a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 others(48): Show a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0183 a0002c0002t0002g0190 a0002c0002t0006g0001 a0002c0002t0006g0179 a0002c0002t0006g0181 a0002c0002t0006g0184 a0002c0002t0006g0185 a0002c0002t0006g0186 a0002c0002t0006g0187 a0002c0002t0006g0188 a0002c0002t0006g0189 a0002c0002t0018g0140 a0002c0002t0018g0150 a0002c0002t0018g0158 a0002c0002t0018g0182 a0002c0002t0025g0145 a0002c0002t0025g0171 a0002c0002t0041g0166 a0002c0002t0042g0152	54	344	0.1570	-47	c.202 others(64): Show c.202+4653_202+4699delCACCTCCCTCCCGGACGGGGCAGCTGGC CGGGCGGGGGCTGACCCCC		DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9						chr22	TogoVar
DGCR2_chr22_19031286_19127412	19084694	TGCCCCGT others(40): Show TGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	344	0.0029	-47	c.202 others(64): Show c.202+4627_202+4673delGGCTGGCCGGGCGGGGGCTGACCCCCCA CCTCCCTCCCGGACGGGGC		DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9						chr22	TogoVar
DGKB_chr7_14140049_14907751	14688830	ATTATCCT others(40): Show ATTATCCTAGTGATTCTAAAGTTTTAGTTTTTCCATAAATAAAAATCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(108): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19081.hp1 NA19081.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0002c0005 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0002t0029 a0001c0002t0031 a0001c0002t0034 a0001c0002t0038 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0018 a0001c0003t0036 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0026 a0001c0004t0027 a0001c0006t0008 a0001c0006t0019 a0001c0008t0003 a0001c0012t0003 a0001c0013t0017 a0001c0014t0001 a0001c0015t0032 a0001c0016t0001 a0002c0005t0011 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(108): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0021g0029 a0001c0001t0023g0122 a0001c0001t0025g0021 a0001c0001t0028g0095 a0001c0001t0039g0022 a0001c0001t0041g0147 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0002g0074 a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0009g0064 a0001c0002t0012g0046 a0001c0002t0013g0104 a0001c0002t0022g0013 a0001c0002t0029g0002 a0001c0002t0031g0008 a0001c0002t0034g0014 a0001c0002t0038g0093 a0001c0002t0040g0068 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0001g0136 a0001c0003t0002g0063 a0001c0003t0003g0056 a0001c0003t0004g0012 a0001c0003t0005g0016 a0001c0003t0005g0057 a0001c0003t0008g0011 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0015g0086 a0001c0003t0018g0061 a0001c0003t0036g0050 a0001c0003t0037g0005 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0127 a0001c0004t0002g0112 a0001c0004t0002g0115 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0003g0049 a0001c0004t0003g0067 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0004t0026g0138 a0001c0004t0027g0059 a0001c0006t0008g0080 a0001c0006t0019g0144 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0012t0003g0015 a0001c0013t0017g0084 a0001c0014t0001g0018 a0001c0015t0032g0019 a0001c0016t0001g0039 a0002c0005t0011g0062 a0002c0005t0011g0079 a0002c0007t0006g0030 a0002c0007t0006g0041 a0004c0011t0002g0110	111	148	0.7500	-47	c.712 others(64): Show c.712-3515_712-3469delAGATTTTTATTTATGGAAAAACTAAAAC TTTAGAATCACTAGGATAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	9/25						chr7	TogoVar
DHRS12_chr13_51762993_51809163	51774912	AGTATTCT others(40): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	420	0.0024	-47	c.364 others(62): Show c.364-925_364-879delGTAGAATACATGTAGGAGAATACTGTAGAA TACATGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS9_chr2_169064563_169101167	169079971	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	398	0.0025	-47	c.-59 others(64): Show c.-59-1550_-59-1504delGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAA		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHX34_chr19_47344315_47387704	47381316	GGCCCCCA others(40): Show GGCCCCCAGGTAAGCACAGGACTGTGGGGACCCGGCCACCTCTGCCCA	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0238 a0016c0023t0004g0238	1	382	0.0026	-47	c.329 others(59): Show c.3294_3298+42delCCCAGGTAAGCACAGGACTGTGGGGACCCGGCC ACCTCTGCCCAGCC	p.Pro others(6): Show p.Pro1099fs	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding	16/17	3609/4338	3294/3432	1098/1143		INFO_REALIGN_3_PRIME	chr19	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18747.hp1 NA18998.hp1 others(2): Show NA18612.hp2 NA18747.hp1 NA18998.hp1 NA19057.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0034 a0001c0003t0002g0015 a0001c0003t0002g0026 others(2): Show a0001c0001t0001g0034 a0001c0003t0002g0015 a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0057	5	284	0.0176	-47	c.101 others(66): Show c.101-46330_101-46284delTATATATATATATATATATATATATA TATATATATATATATATATAT		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37						chr12	TogoVar
DIP2B_chr12_50499985_50753657	50752381	TGAGGAAG others(40): Show TGAGGAAGCTGGAGCGGACGGACTCCAGTGAGCAGGTGGAAGGATTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	284	0.0035	-47	c.75 others(58): Show c.7543_*7589delGAGGAAGCTGGAGCGGACGGACTCCAGTGAGCAG GTGGAAGGATTGG		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding					3725		chr12	TogoVar
DIP2C_chr10_269201_694668	584620	GACCTGAC others(40): Show GACCTGACCCCCACTCACGCGCATCACCTCTCAATCTCGGGGCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	-47	c.86- others(64): Show c.86-98137_86-98091delTGCGGGCCCCGAGATTGAGAGGTGATGC GCGTGAGTGGGGGTCAGGT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	584905	AGGGCCCG others(40): Show AGGGCCCGCGACCTGACCCCCACTCACGCGCATCACCTCTCAATCTCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02071.hp1 NA19066.hp1 HG00621.hp1 HG02071.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0001g0072 a0001c0001t0003g0085 a0001c0001t0001g0028 a0001c0001t0001g0072 a0001c0001t0003g0085	3	88	0.0341	-47	c.86- others(64): Show c.86-98422_86-98376delCGAGATTGAGAGGTGATGCGCGTGAGTG GGGGTCAGGTCGCGGGCCC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLG2_chr11_83450173_85632344	84502202	CCTTCCTT others(40): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	14	0.0714	-47	c.519 others(66): Show c.519+32321_519+32367delAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAG		DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27						chr11	TogoVar
DLGAP2_chr8_732628_1713476	1188933	TCCAGGCC others(40): Show TCCAGGCCGGTTCCGCGGTTGGGGTTGACCGTACACAGGGTTCGGGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-47	c.74- others(64): Show c.74-69888_74-69842delGTACACAGGGTTCGGGCCCCAGGCCGGT TCCGCGGTTGGGGTTGACC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1188963	GTACACAG others(40): Show GTACACAGGGTTCGGGCCCCAGGCCGGTTCCGCGGTTGGGGTTGACCT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG03486.hp1 HG02818.hp2 HG02922.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0001t0019 a0002c0006t0021 a0002c0001t0005 a0002c0001t0019 a0002c0006t0021	a0002c0001t0005g0035 a0002c0001t0019g0030 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0001t0019g0030 a0002c0006t0021g0014	3	40	0.0750	-47	c.74- others(64): Show c.74-69867_74-69821delGGCCGGTTCCGCGGTTGGGGTTGACCTT ACACAGGGTTCGGGCCCCA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1247517	TAATGGCC others(40): Show TAATGGCCCATGTTGGTGGCCGGCAAGACCTTTGAGATCAGTGTGGGA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-47	c.74- others(64): Show c.74-11333_74-11287delAATGGCCCATGTTGGTGGCCGGCAAGAC CTTTGAGATCAGTGTGGGA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DLK2_chr6_43445352_43460548	43449682	TCCTTTAT others(40): Show TCCTTTATAGCACTGCCTAGGGCCCTTTATAGCACATTATCTGAGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG01891.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	2	370	0.0054	-47	c.81 others(56): Show c.810_*856delGCCCTCAGATAATGTGCTATAAAGGGCCCTAGGCAG TGCTATAAAGG		DLK2	ENSG00000171462.15	transcript	ENST00000372488.8	protein_coding					669		chr6	TogoVar
DMD_chrX_31114222_33216549	32452287	GGAAAGGA others(40): Show GGAAAGGAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01952.hp1 HG02451.hp2 others(4): Show HG01192.hp1 HG01952.hp1 HG02451.hp2 HG02895.hp1 HG03486.hp2 NA18960.hp1 NA19070.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0016 a0028	a0001c0001 a0002c0024 a0002c0059 others(4): Show a0001c0001 a0002c0024 a0002c0059 a0004c0055 a0007c0018 a0016c0028 a0028c0046	a0001c0001t0001 a0002c0024t0011 a0002c0059t0012 others(4): Show a0001c0001t0001 a0002c0024t0011 a0002c0059t0012 a0004c0055t0001 a0007c0018t0001 a0016c0028t0005 a0028c0046t0029	a0001c0001t0001g0018 a0002c0024t0011g0016 a0002c0059t0012g0055 others(4): Show a0001c0001t0001g0018 a0002c0024t0011g0016 a0002c0059t0012g0055 a0004c0055t0001g0007 a0007c0018t0001g0099 a0016c0028t0005g0028 a0028c0046t0029g0126	7	126	0.0556	-47	c.360 others(66): Show c.3603+2328_3603+2374delACTTTCACTTTCACTTTCACTTTCAC TTTCCCTTTCCTTTTCCTTTC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar

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