Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HIKESHI_chr11_86297240_86350943	86338389	ATATGGAG others(10): Show ATATGGAGGTGTTCACTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02055.hp1 others(18): Show HG01074.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02273.hp2 HG02572.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0354 a0001c0001t0001g0355 others(17): Show a0001c0001t0001g0021 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372	21	398	0.0528	-17	c.420 others(32): Show c.420+862_420+878delTGGAGGTGTTCACTTTA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1_chr7_75528298_75743941	75589683	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02886.hp1 HG02965.hp2 HG01074.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0050 a0001c0001t0003g0068 a0001c0001t0005g0086 a0001c0001t0002g0050 a0001c0001t0003g0068 a0001c0001t0005g0086	3	254	0.0118	-17	c.384 others(34): Show c.384+2356_384+2372delTTTTTTTTTTTTTTTTT	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	4/30			chr7	TogoVar
HIPK2_chr7_139556570_139782998	139670747	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0042 a0001c0001t0078g0042	1	154	0.0065	-17	c.110 others(38): Show c.1104-39039_1104-39023delAAAAAGAAAGAAAGAAA	HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	2/14			chr7	TogoVar
HIVEP2_chr6_142746469_142950176	142777648	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01257.hp1 HG02257.hp2 others(1): Show HG01074.hp2 HG01257.hp1 HG02257.hp2 HG02735.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0004 a0004c0017 a0011c0028 a0001c0004 a0004c0017 a0011c0028	a0001c0004t0001 a0004c0017t0001 a0011c0028t0001 a0001c0004t0001 a0004c0017t0001 a0011c0028t0001	a0001c0004t0001g0128 a0001c0004t0001g0166 a0004c0017t0001g0132 others(1): Show a0001c0004t0001g0128 a0001c0004t0001g0166 a0004c0017t0001g0132 a0011c0028t0001g0272	4	288	0.0139	-17	c.-43 others(36): Show c.-432-1474_-432-1458delTTTTTTTTTTTTTTTTT	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	3/9			chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142818703	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	288	0.0035	-17	c.-52 others(38): Show c.-528+18215_-528+18231delTCTTTCTTTCTTTCTTT	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142834959	CTTCCTTA others(10): Show CTTCCTTACCAAAAGAAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(64): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02257.hp1 HG02486.hp1 HG02683.hp1 HG02698.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18974.hp2 NA18989.hp2 NA18994.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19056.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19088.hp2 NA20905.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0016 a0001c0040 a0012c0034	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 others(11): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0009 a0001c0006t0001 a0001c0008t0002 a0001c0009t0002 a0001c0011t0006 a0001c0013t0002 a0001c0016t0001 a0001c0040t0001 a0012c0034t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 others(64): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0011g0207 a0001c0002t0002g0007 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0069 a0001c0002t0002g0083 a0001c0002t0002g0123 a0001c0002t0002g0147 a0001c0002t0002g0153 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0003t0001g0023 a0001c0004t0001g0012 a0001c0004t0001g0053 a0001c0004t0001g0141 a0001c0005t0009g0021 a0001c0006t0001g0003 a0001c0006t0001g0008 a0001c0006t0001g0139 a0001c0006t0001g0180 a0001c0008t0002g0171 a0001c0009t0002g0018 a0001c0009t0002g0077 a0001c0011t0006g0127 a0001c0013t0002g0072 a0001c0013t0002g0146 a0001c0013t0002g0170 a0001c0016t0001g0060 a0001c0016t0001g0074 a0001c0040t0001g0277 a0012c0034t0001g0188	67	288	0.2326	-17	c.-52 others(36): Show c.-528+1959_-528+1975delCTTCTTTTGGTAAGGAA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41638280	AAGAGGAA others(10): Show AAGAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG06807.hp1 HG03669.hp2 HG06807.hp1	a0004 a0032 a0004 a0032	a0004c0005 a0032c0038 a0004c0005 a0032c0038	a0004c0005t0070 a0032c0038t0019 a0004c0005t0070 a0032c0038t0019	a0004c0005t0070g0060 a0032c0038t0019g0026 a0004c0005t0070g0060 a0032c0038t0019g0026	2	134	0.0149	-17	c.-72 others(36): Show c.-720-9350_-720-9334delCCTTCCTTCCTTCCTCT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41851289	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0030 a0001c0003t0044g0030	1	134	0.0075	-17	c.-80 others(38): Show c.-801+67107_-801+67123delAAAAAAAAAAAAAAAAA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HK1_chr10_69273496_69406882	69293851	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	280	0.0036	-17	c.28- others(32): Show c.28-1778_28-1762delCTTTTTTTTTTTTTTTT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
HLA-DQB2_chr6_32751098_32768532	32758228	TGGAGGTA others(10): Show TGGAGGTAGAGCCTGGTG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18957.hp2 NA18970.hp1 others(1): Show NA18747.hp1 NA18957.hp2 NA18970.hp1 NA18986.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0025 a0003c0004t0002g0025	4	455	0.0088	-17	c.647 others(32): Show c.647-362_647-346delCACCAGGCTCTACCTCC	HLA-DQB2	ENSG00000232629.9	transcript	ENST00000437316.7	protein_coding	3/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32582175	TTTTACTG others(10): Show TTTTACTGGTTGATCCTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0003 a0012c0012t0003	a0012c0012t0003g0076 a0012c0012t0003g0076	1	208	0.0048	-17	c.371 others(32): Show c.371-354_371-338delCAGGATCAACCAGTAAA	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32582176	TTTACTGG others(10): Show TTTACTGGTTGATCCTGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(127): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032	a0002c0002 a0003c0003 a0005c0008 others(21): Show a0002c0002 a0003c0003 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0010c0013 a0012c0012 a0013c0015 a0014c0016 a0016c0018 a0018c0019 a0019c0020 a0020c0023 a0021c0024 a0023c0022 a0024c0027 a0025c0026 a0026c0031 a0028c0032 a0029c0034 a0030c0035 a0031c0030 a0032c0033	a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 others(22): Show a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0010c0013t0011 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0016c0018t0008 a0018c0019t0003 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0023c0022t0012 a0024c0027t0006 a0025c0026t0006 a0026c0031t0003 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009 a0031c0030t0011 a0032c0033t0011	a0002c0002t0005g0005 a0002c0002t0005g0010 a0002c0002t0005g0014 others(75): Show a0002c0002t0005g0005 a0002c0002t0005g0010 a0002c0002t0005g0014 a0002c0002t0005g0077 a0002c0002t0005g0078 a0002c0002t0005g0079 a0003c0003t0002g0008 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0010c0013t0011g0082 a0010c0013t0011g0083 a0010c0013t0011g0085 a0010c0013t0011g0086 a0010c0013t0011g0087 a0010c0013t0011g0088 a0012c0012t0003g0009 a0013c0015t0008g0028 a0013c0015t0008g0066 a0013c0015t0008g0067 a0013c0015t0008g0068 a0014c0016t0010g0080 a0014c0016t0012g0015 a0016c0018t0008g0039 a0016c0018t0008g0040 a0016c0018t0008g0041 a0016c0018t0008g0042 a0018c0019t0003g0017 a0018c0019t0003g0052 a0019c0020t0010g0030 a0019c0020t0010g0031 a0020c0023t0006g0071 a0020c0023t0006g0072 a0020c0023t0006g0073 a0021c0024t0010g0029 a0021c0024t0010g0081 a0023c0022t0012g0036 a0023c0022t0012g0037 a0023c0022t0012g0038 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0026c0031t0003g0050 a0028c0032t0003g0074 a0029c0034t0006g0055 a0030c0035t0009g0060 a0031c0030t0011g0089 a0032c0033t0011g0084	130	208	0.6250	-17	c.371 others(32): Show c.371-355_371-339delCCAGGATCAACCAGTAA	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/5			chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722521	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01361.hp1 others(14): Show HG00741.hp2 HG01081.hp2 HG01361.hp1 HG02109.hp1 HG02257.hp2 HG02572.hp1 HG02886.hp1 HG02970.hp2 HG03130.hp2 HG03831.hp1 NA18522.hp1 NA18965.hp1 NA18987.hp1 NA19082.hp1 NA19083.hp2 NA19240.hp2 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0001 a0007c0016t0001 a0001c0001t0001 a0007c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0027 a0007c0016t0001g0001	17	443	0.0384	-17	c.-94 others(26): Show c.-942_-926delAAAAAAAAAAAAAAAAA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		912		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722755	AAGGAGAG others(10): Show AAGGAGAGGAAGAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	443	0.0023	-17	c.-70 others(26): Show c.-708_-692delAGGAGAGGAAGAGGAAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		678		chr6	TogoVar
HLCS_chr21_36743626_36971669	36888444	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0217 a0001c0003t0054g0217	1	258	0.0039	-17	c.189 others(36): Show c.1892+8399_1892+8415delATATATATATATATATT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888446	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 homoSapiens_chm13v2.hp1 NA18971.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0084 a0001c0003t0003 a0001c0001t0084 a0001c0003t0003	a0001c0001t0084g0075 a0001c0003t0003g0204 a0001c0001t0084g0075 a0001c0003t0003g0204	2	258	0.0078	-17	c.189 others(36): Show c.1892+8397_1892+8413delATATATATATATATATA	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLTF_chr3_149025127_149091533	149079373	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0022 a0003c0006 a0001c0022 a0003c0006	a0001c0022t0002 a0003c0006t0005 a0001c0022t0002 a0003c0006t0005	a0001c0022t0002g0254 a0003c0006t0005g0054 a0001c0022t0002g0254 a0003c0006t0005g0054	2	404	0.0050	-17	c.229 others(34): Show c.229-3343_229-3327delTTTTTTTTTTTTTTTTT	HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding	2/24			chr3	TogoVar
HMCN1_chr1_185729391_186195949	185858586	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG01099.hp1 HG02109.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0075 a0009c0010t0001g0005 a0001c0001t0001g0075 a0009c0010t0001g0005	2	92	0.0217	-17	c.340 others(34): Show c.340-5853_340-5837delTTTTTTTTTTTTTTTTT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	2/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMGCLL1_chr6_55429373_55584192	55543088	TATATAAT others(10): Show TATATAATATAATATATG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	334	0.0030	-17	c.109 others(32): Show c.109-965_109-949delCATATATTATATTATAT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	1/8			chr6	TogoVar
HMGCL_chr1_23796885_23830429	23825731	TCCAAAAA others(10): Show TCCAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	372	0.0027	-17	c.-33 others(26): Show c.-333_-317delTTTTTTTTTTTTTTTGG	HMGCL	ENSG00000117305.15	transcript	ENST00000374490.8	protein_coding		303		chr1	TogoVar
HMGCR_chr5_75332220_75367101	75343722	GTATTGTG others(10): Show GTATTGTGCTTACATTTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01517.hp1 HG00639.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0144 a0001c0001t0002g0145	2	390	0.0051	-17	c.166 others(32): Show c.166-129_166-113delATTGTGCTTACATTTAT	HMGCR	ENSG00000113161.17	transcript	ENST00000287936.9	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMGCR_chr5_75332220_75367101	75360726	AAAATGGA others(10): Show AAAATGGATTTTTAAATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp2 others(41): Show HG00099.hp1 HG00423.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG01168.hp1 HG01255.hp1 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02080.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02886.hp1 HG03669.hp1 HG04204.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18953.hp2 NA18959.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19001.hp2 NA19005.hp1 NA19006.hp2 NA19056.hp2 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0003 a0001c0001t0003 a0003c0006t0003	a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0032 others(11): Show a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0032 a0001c0001t0003g0048 a0001c0001t0003g0066 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0164 a0003c0006t0003g0088	44	390	0.1128	-17	c.38 others(26): Show c.386_*402delAATGGATTTTTAAATTA	HMGCR	ENSG00000113161.17	transcript	ENST00000287936.9	protein_coding	20/20	386	INFO_REALIGN_3_PRIME	chr5	TogoVar
HMGCS2_chr1_119743002_119773905	119766752	CTTCCCAG others(10): Show CTTCCCAGTTAGAAATCA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	434	0.0023	-17	c.104 others(34): Show c.104+1972_104+1988delTGATTTCTAACTGGGAA	HMGCS2	ENSG00000134240.12	transcript	ENST00000369406.8	protein_coding	1/9			chr1	TogoVar
HMGN2_chr1_26467440_26481642	26478574	TATATATA others(10): Show TATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0029 a0001c0001t0016g0029	1	390	0.0026	-17	c.34 others(28): Show c.3427_*3443delATATATATATATATATA	HMGN2	ENSG00000198830.12	transcript	ENST00000361427.6	protein_coding		1933		chr1	TogoVar
HMGN2_chr1_26467440_26481642	26478578	TATATATA others(10): Show TATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02723.hp1 HG01099.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	2	390	0.0051	-17	c.34 others(28): Show c.3431_*3447delATATATATATATATATA	HMGN2	ENSG00000198830.12	transcript	ENST00000361427.6	protein_coding		1937		chr1	TogoVar
HMGN3_chr6_79196245_79239682	79200894	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0004g0147 a0001c0001t0009g0148 a0001c0001t0010g0099	258	322	0.8012	-17	c.77 others(26): Show c.777_*793delAAAAAAAAAAAAAAAAA	HMGN3	ENSG00000118418.16	transcript	ENST00000620514.2	protein_coding		350		chr6	TogoVar
HMHB1_chr5_143807161_143825716	143820318	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02818.hp1 HG02970.hp1 others(3): Show HG01167.hp2 HG02818.hp1 HG02970.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0015 a0001c0001t0001g0048	6	458	0.0131	-17	c.38- others(30): Show c.38-146_38-130delAAAAAAAAAAAAAAAAA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMOX1_chr22_35376096_35399207	35380832	TTTGTGTG others(10): Show TTTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp2 NA19011.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0014 a0001c0001t0001g0125	2	384	0.0052	-17	c.-34 others(26): Show c.-341_-325delTTGTGTGTGTGTGTGTG	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding		263		chr22	TogoVar
HMOX1_chr22_35376096_35399207	35380877	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	384	0.0026	-17	c.-29 others(26): Show c.-296_-280delTGTGTGTGTGTGTGTGT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding		218		chr22	TogoVar
HMOX2_chr16_4471398_4515347	4501739	ATGTAGCT others(10): Show ATGTAGCTTTTCAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02615.hp2 others(17): Show HG02280.hp1 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0275 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290	20	313	0.0639	-17	c.-41 others(34): Show c.-41-3742_-41-3726delTAGCTTTTCAGAAAGTG	HMOX2	ENSG00000103415.12	transcript	ENST00000570646.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
HNF4A_chr20_44350699_44437845	44404986	TGTGTGTG others(10): Show TGTGTGTGCTTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0254 a0001c0001t0055g0254	1	322	0.0031	-17	c.50- others(32): Show c.50-1063_50-1047delTTGTGTGTGGTGTGTGC	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNRNPA1L2_chr13_52637431_52648773	52647392	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01361.hp2 HG01891.hp1 others(7): Show HG01256.hp2 HG01361.hp2 HG01891.hp1 HG02886.hp2 HG03486.hp2 NA18959.hp1 NA18970.hp2 NA18987.hp1 NA19072.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 a0004c0004t0001 a0009c0008t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0007g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0007g0000 a0002c0002t0001g0000 a0004c0004t0001g0000 a0009c0008t0002g0000	10	436	0.0229	-17	c.39 others(28): Show c.3938_*3954delTTTTTTTTTTTTTTTTT	HNRNPA1L2	ENSG00000139675.13	transcript	ENST00000357495.5	protein_coding		3620		chr13	TogoVar
HNRNPD_chr4_82347498_82378991	82349412	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01099.hp1 others(14): Show HG00438.hp1 HG00558.hp2 HG01099.hp1 HG01255.hp1 HG01257.hp2 HG02071.hp1 HG02155.hp2 NA18947.hp2 NA18954.hp1 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18991.hp2 NA19004.hp1 NA19010.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0006 a0001c0001t0005g0017 a0001c0001t0005g0079 others(8): Show a0001c0001t0005g0006 a0001c0001t0005g0017 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0152 a0001c0001t0005g0155 a0001c0001t0006g0023	17	332	0.0512	-17	c.47 others(28): Show c.4756_*4772delTTTTTTTTTTTTTTTTT	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		3085		chr4	TogoVar
HNRNPM_chr19_8439975_8494114	8477660	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19087.hp2 HG02647.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0042 a0001c0004t0001g0290 a0001c0001t0001g0042 a0001c0004t0001g0290	2	360	0.0056	-17	c.112 others(36): Show c.1120+3433_1120+3449delAAAAAAAAAAAAAAAAA	HNRNPM	ENSG00000099783.13	transcript	ENST00000325495.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
HOOK1_chr1_59809949_59881322	59854021	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0217 a0001c0003t0007g0217	1	252	0.0040	-17	c.124 others(36): Show c.1243-4406_1243-4390delATATATATATATATATA	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21			chr1	TogoVar
HOOK1_chr1_59809949_59881322	59855967	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02135.hp1 others(11): Show HG01243.hp1 HG01261.hp1 HG02135.hp1 NA18954.hp1 NA18964.hp2 NA18966.hp2 NA18977.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp2 NA19075.hp1 NA19080.hp1 NA19083.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0023 others(2): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0023 a0001c0001t0032 a0001c0001t0059	a0001c0001t0008g0008 a0001c0001t0008g0124 a0001c0001t0008g0129 others(10): Show a0001c0001t0008g0008 a0001c0001t0008g0124 a0001c0001t0008g0129 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0136 a0001c0001t0022g0009 a0001c0001t0023g0123 a0001c0001t0023g0127 a0001c0001t0023g0128 a0001c0001t0032g0008 a0001c0001t0032g0134 a0001c0001t0059g0133	14	252	0.0556	-17	c.124 others(36): Show c.1243-2460_1243-2444delATATATATATATATATA	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21			chr1	TogoVar
HOOK3_chr8_42891978_43035535	42990325	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02451.hp1 others(8): Show HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp1 HG03209.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0001t0065 a0001c0001t0067 others(4): Show a0001c0001t0021 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0002t0007	a0001c0001t0021g0017 a0001c0001t0021g0018 a0001c0001t0065g0023 others(8): Show a0001c0001t0021g0017 a0001c0001t0021g0018 a0001c0001t0065g0023 a0001c0001t0067g0016 a0001c0001t0068g0025 a0001c0001t0069g0024 a0001c0001t0070g0015 a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0022	11	162	0.0679	-17	c.153 others(36): Show c.1532+3551_1532+3567delTTTTTTTTTTTTTTTTT	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
HOPX_chr4_56642998_56686296	56679364	ACAATAAT others(10): Show ACAATAATGAACATATCC	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	376	0.0027	-17	c.-84 others(34): Show c.-84+1874_-84+1890delGGATATGTTCATTATTG	HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding	1/3			chr4	TogoVar
HORMAD2_chr22_30075464_30182075	30129217	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	350	0.0029	-17	c.819 others(34): Show c.819+7026_819+7042delAAAAAAAAAAAAAAAAA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30129240	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 NA18522.hp2 HG02717.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130	3	350	0.0086	-17	c.819 others(34): Show c.819+7028_819+7044delAAAAAAAAAAAAAAAGA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXB1_chr17_48523526_48536011	48528184	AAAAAGAA others(10): Show AAAAAGAAAAAGAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	426	0.0024	-17	c.13 others(28): Show c.1346_*1362delCTTTTTCTTTTTCTTTT	HOXB1	ENSG00000120094.9	transcript	ENST00000239174.7	protein_coding		341		chr17	TogoVar
HOXB3_chr17_48543870_48595241	48567105	GGCCTTCT others(10): Show GGCCTTCTCTTTCTCCCC	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	374	0.0027	-17	c.-24 others(36): Show c.-247+6715_-247+6731delGGGGAGAAAGAGAAGGC	HOXB3	ENSG00000120093.12	transcript	ENST00000498678.6	protein_coding	2/4			chr17	TogoVar
HPCAL1_chr2_10297904_10432604	10399571	CCACCACC others(10): Show CCACCACCGCCACCGCCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02148.hp1 HG02572.hp2 others(5): Show HG01109.hp1 HG02148.hp1 HG02572.hp2 NA18953.hp1 NA18975.hp1 NA18994.hp1 NA18997.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0099 a0001c0001t0001g0122 a0001c0001t0001g0217 others(5): Show a0001c0001t0001g0099 a0001c0001t0001g0122 a0001c0001t0001g0217 a0001c0001t0001g0242 a0001c0001t0001g0303 a0001c0001t0002g0173 a0001c0001t0003g0141 a0001c0001t0004g0195	8	314	0.0255	-17	c.-25 others(34): Show c.-25+2653_-25+2669delACCACCGCCACCGCCAC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399573	ACCACCGC others(10): Show ACCACCGCCACCGCCACC	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18964.hp2 NA18949.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0073 a0001c0001t0002g0042 a0001c0001t0001g0073 a0001c0001t0002g0042	2	314	0.0064	-17	c.-25 others(34): Show c.-25+2654_-25+2670delCCACCGCCACCGCCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4			chr2	TogoVar
HPD_chr12_121834527_121863859	121857874	TGCGGGTG others(10): Show TGCGGGTGGAGTGATGTC	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0053 a0011c0019t0001g0053	1	406	0.0025	-17	c.31- others(28): Show c.31-72_31-56delGACATCACTCCACCCGC	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding	2/13			chr12	TogoVar
HPGDS_chr4_94293535_94347836	94340301	CTTTCTTT others(10): Show CTTTCTTTCTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	312	0.0032	-17	c.-10 others(34): Show c.-10+2477_-10+2493delAAAAAAAGAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340305	CTTTCTCT others(10): Show CTTTCTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18979.hp1 HG03540.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0252 a0002c0002t0005g0037 a0001c0001t0002g0252 a0002c0002t0005g0037	2	312	0.0064	-17	c.-10 others(34): Show c.-10+2473_-10+2489delAAAAAAAAAAAGAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340309	CTCTTTTT others(10): Show CTCTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	312	0.0032	-17	c.-10 others(34): Show c.-10+2469_-10+2485delAAAAAAAAAAAAAAAGA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340311	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18906.hp1 HG00099.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0257 a0001c0001t0002g0258	2	312	0.0064	-17	c.-10 others(34): Show c.-10+2467_-10+2483delAAAAAAAAAAAAAAAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPS5_chr11_18273676_18327140	18280979	AATACCAC others(10): Show AATACCACTGAGCTGAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0012 a0011c0015t0012	a0011c0015t0012g0072 a0011c0015t0012g0072	1	372	0.0027	-17	c.332 others(34): Show c.3329+954_3329+970delATTCAGCTCAGTGGTAT	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	22/22			chr11	TogoVar

Search by Variant

Search

Search Results