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	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
FSTL5_chr4_161378897_162169000	161516561	CATATAGT others(77): Show CATATAGTAAATTATATATTTTATATAATAAATTATATATTTTATATAAT AAATTATATATTTTATATAATAAATTATATATTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01069.hp1 others(29): Show HG00438.hp2 HG00621.hp2 HG01069.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01952.hp2 HG02056.hp1 HG02074.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18948.hp2 NA18968.hp2 NA18983.hp1 NA18990.hp2 NA19002.hp2 NA19065.hp1 NA19079.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0002c0004 a0003c0005 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 a0001c0002t0008 a0001c0002t0016 a0001c0003t0001 a0001c0003t0019 a0001c0012t0001 a0002c0004t0003 a0003c0005t0005 a0003c0005t0009 a0003c0014t0005	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 others(29): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0002g0004 a0001c0001t0003g0108 a0001c0001t0004g0126 a0001c0001t0004g0130 a0001c0001t0014g0101 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0068 a0001c0002t0008g0103 a0001c0002t0008g0106 a0001c0002t0008g0120 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0003t0001g0100 a0001c0003t0019g0105 a0001c0012t0001g0071 a0002c0004t0003g0107 a0003c0005t0005g0078 a0003c0005t0009g0127 a0003c0014t0005g0065	32	142	0.2254	-84	c.131 others(103): Show c.1313-6221_1313-6138delAAAATATATAATTTATTATATAAAAT ATATAATTTATTATATAAAATATATAATTTATTATATAAAATATATAATT TACTATAT		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	10/15						chr4	TogoVar
GABRG3_chr15_26966181_27546984	27307295	GTTTATAT others(77): Show GTTTATATATAACCATAGGTTTATATATGTTTATATATAACCATAGGTTT ATATATGTTTATATATAACCATATAGGTTTATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02717.hp2 HG01099.hp1 HG01891.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0016 a0001c0001 a0001c0012 a0001c0016	a0001c0001t0028 a0001c0012t0003 a0001c0016t0001 a0001c0001t0028 a0001c0012t0003 a0001c0016t0001	a0001c0001t0028g0054 a0001c0012t0003g0068 a0001c0016t0001g0074 a0001c0001t0028g0054 a0001c0012t0003g0068 a0001c0016t0001g0074	3	92	0.0326	-84	c.271 others(103): Show c.271-19497_271-19414delGGTTTATATATGTTTATATATAACCA TAGGTTTATATATGTTTATATATAACCATATAGGTTTATATATTTATATA TAACCATA		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GATA5_chr20_62458497_62480995	62477137	CTTTTCTT others(77): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCGGAGCACACCGGGTGGAC CCAGGCGTGGTGGCCATGAAAGTTCTTTTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA20129.hp1 HG01109.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0264 a0001c0003t0001g0265	2	382	0.0052	-84	c.-13 others(95): Show c.-1313_-1230delAAAGAAAAAAGAACTTTCATGGCCACCACGCCTG GGTCCACCCGGTGTGCTCCGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1143		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	TTTTCTTT others(77): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCGGAGCACACCGGGTGGACC CAGGCGTGGTGGCCATGAAAGTTCTTTTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0219 a0001c0002t0003g0219	1	382	0.0026	-84	c.-13 others(95): Show c.-1314_-1231delGAAAGAAAAAAGAACTTTCATGGCCACCACGCCT GGGTCCACCCGGTGTGCTCCGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1144		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477165	TCTCGGAG others(77): Show TCTCGGAGCACACCGGGTGGACCCAGGCGTGGTGGCCATGAAAGTTCTTT TTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0048 a0004c0010t0001g0048	1	382	0.0026	-84	c.-13 others(95): Show c.-1341_-1258delGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAA AAAAGAACTTTCATGGCCACCACGCCTGGGTCCACCCGGTGTGCTCCGAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1171		chr20	TogoVar
GATD1_chr11_762222_782487	772175	TCGGGAGC others(77): Show TCGGGAGCCTCCGACCTCACCTCTGGCTGTGATGGGGGAGGACAGAGCAG GGAGCACAGCCTGCCTCGGCCTCCAGGCACTCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0014 a0002c0005 a0003c0009 a0004c0010 a0005c0013 a0006c0008	a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 others(51): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0025 a0001c0002t0027 a0001c0002t0028 a0001c0002t0036 a0001c0002t0037 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0014 a0001c0003t0017 a0001c0003t0035 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0004t0005 a0001c0004t0006 a0001c0004t0020 a0001c0004t0043 a0001c0004t0044 a0001c0004t0049 a0001c0004t0050 a0001c0006t0002 a0001c0006t0026 a0001c0007t0003 a0001c0011t0005 a0001c0014t0002 a0002c0005t0003 a0002c0005t0013 a0003c0009t0005 a0004c0010t0004 a0005c0013t0005 a0006c0008t0065	a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0021 others(106): Show a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0028 a0001c0001t0005g0035 a0001c0001t0005g0048 a0001c0001t0005g0059 a0001c0001t0005g0090 a0001c0001t0005g0095 a0001c0001t0005g0136 a0001c0001t0005g0140 a0001c0001t0006g0009 a0001c0001t0006g0031 a0001c0001t0006g0060 a0001c0001t0006g0070 a0001c0001t0006g0072 a0001c0001t0010g0017 a0001c0001t0012g0025 a0001c0001t0018g0091 a0001c0001t0018g0094 a0001c0001t0019g0034 a0001c0001t0030g0100 a0001c0001t0032g0087 a0001c0001t0033g0088 a0001c0001t0045g0086 a0001c0001t0047g0055 a0001c0001t0048g0089 a0001c0001t0058g0101 a0001c0001t0060g0082 a0001c0001t0062g0137 a0001c0001t0063g0138 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0020 a0001c0002t0002g0027 a0001c0002t0002g0036 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0079 a0001c0002t0002g0103 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0010 a0001c0002t0003g0024 a0001c0002t0003g0029 a0001c0002t0003g0033 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0083 a0001c0002t0003g0104 a0001c0002t0008g0030 a0001c0002t0008g0032 a0001c0002t0008g0061 a0001c0002t0011g0039 a0001c0002t0011g0105 a0001c0002t0013g0073 a0001c0002t0015g0071 a0001c0002t0015g0074 a0001c0002t0025g0067 a0001c0002t0027g0097 a0001c0002t0028g0069 a0001c0002t0036g0063 a0001c0002t0037g0075 a0001c0003t0003g0019 a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0044 a0001c0003t0004g0098 a0001c0003t0004g0142 a0001c0003t0004g0143 a0001c0003t0004g0145 a0001c0003t0004g0150 a0001c0003t0007g0012 a0001c0003t0014g0146 a0001c0003t0014g0148 a0001c0003t0017g0043 a0001c0003t0035g0099 a0001c0003t0038g0144 a0001c0003t0039g0151 a0001c0003t0040g0141 a0001c0004t0005g0013 a0001c0004t0005g0081 a0001c0004t0005g0093 a0001c0004t0006g0016 a0001c0004t0006g0050 a0001c0004t0006g0052 a0001c0004t0020g0038 a0001c0004t0043g0102 a0001c0004t0044g0053 a0001c0004t0049g0084 a0001c0004t0050g0051 a0001c0006t0002g0066 a0001c0006t0026g0065 a0001c0007t0003g0078 a0001c0007t0003g0080 a0001c0011t0005g0049 a0001c0014t0002g0077 a0002c0005t0003g0008 a0002c0005t0013g0046 a0003c0009t0005g0085 a0004c0010t0004g0149 a0005c0013t0005g0092 a0006c0008t0065g0047	309	430	0.7186	-84	c.450 others(99): Show c.450+168_450+251delGGTGAGTGCCTGGAGGCCGAGGCAGGCTGT GCTCCCTGCTCTGTCCTCCCCCATCACAGCCAGAGGTGAGGTCGGAGGCT CCCG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding	5/7						chr11	TogoVar
GATD1_chr11_762222_782487	772235	CTGCCTCG others(77): Show CTGCCTCGGCCTCCAGGCACTCACCCTGGAGCCTCCGACCTCACCTCTGG CTGTGATGGGGGAGGACAGAGCAGGGAGCACAGCG	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	430	0.0023	-84	c.450 others(99): Show c.450+108_450+191delCGCTGTGCTCCCTGCTCTGTCCTCCCCCAT CACAGCCAGAGGTGAGGTCGGAGGCTCCAGGGTGAGTGCCTGGAGGCCGA GGCA		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding	5/7						chr11	TogoVar
GATD1_chr11_762222_782487	779920	GCGCCTCT others(77): Show GCGCCTCTCTATCCCCAGCAGGTGGGAAAGGGTGCTTCCAGGGTACTGCT ATCTCCCCCGCTCCAAGAGGCCAGCCTCTGCTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01934.hp2 HG01952.hp2 others(13): Show HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02074.hp2 HG02148.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0005g0014 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0012g0025 a0001c0002t0002g0002	16	430	0.0372	-84	c.-25 others(95): Show c.-2542_-2459delGGGAGCAGAGGCTGGCCTCTTGGAGCGGGGGAGA TAGCAGTACCCTGGAAGCACCCTTTCCCACCTGCTGGGGATAGAGAGGCG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					2434		chr11	TogoVar
GATD1_chr11_762222_782487	779939	AGGTGGGA others(77): Show AGGTGGGAAAGGGTGCTTCCAGGGTACTGCTATCTCCCCCGCTCCAAGAG GCCAGCCTCTGCTCCCCGCCTCTCTACCCCTGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 NA18522.hp1 NA18983.hp1 HG00642.hp1 NA18522.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0058 a0001c0002t0002 a0001c0004t0005 a0001c0001t0058 a0001c0002t0002 a0001c0004t0005	a0001c0001t0058g0101 a0001c0002t0002g0002 a0001c0004t0005g0013 a0001c0001t0058g0101 a0001c0002t0002g0002 a0001c0004t0005g0013	3	430	0.0070	-84	c.-25 others(95): Show c.-2561_-2478delAGCCAGGGGTAGAGAGGCGGGGAGCAGAGGCTGG CCTCTTGGAGCGGGGGAGATAGCAGTACCCTGGAAGCACCCTTTCCCACC		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					2453		chr11	TogoVar
GDF2_chr10_47317454_47332588	47329188	AGTGTGTG others(77): Show AGTGTGTGCACACTGGGGTGAGTGATGTGGTGTGTGCACCCTGGGGTGAG TGATGCAGTGTGTGCACCGTGGGGTGAGTGATGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01070.hp2 HG01074.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0001 a0005c0010t0001g0026 a0001c0001t0001g0001 a0005c0010t0001g0026	2	424	0.0047	-84	c.34 others(95): Show c.3405_*3488delGTGTGTGCACACTGGGGTGAGTGATGTGGTGTGT GCACCCTGGGGTGAGTGATGCAGTGTGTGCACCGTGGGGTGAGTGATGCG		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					1601		chr10	TogoVar
GEN1_chr2_17749138_17793946	17778255	CACATATG others(77): Show CACATATGTGTGTACATATATGTATATACACACACATGTGTGTGTACATA TATGTATATACACACACACGTGTACATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp2 HG02145.hp1 others(4): Show HG01261.hp1 HG01891.hp2 HG02145.hp1 HG03139.hp1 HG03195.hp1 HG03579.hp1 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0046 a0003c0003t0003g0060 others(2): Show a0003c0003t0003g0007 a0003c0003t0003g0046 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0111	7	318	0.0220	-84	c.126 others(101): Show c.1264+196_1264+279delTATGTGTGTACATATATGTATATACACA CACATGTGTGTGTACATATATGTATATACACACACACGTGTACATATATG TATACA		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GEN1_chr2_17749138_17793946	17778264	GTGTACAT others(77): Show GTGTACATATATGTATATACACACACATGTGTGTGTACATATATGTATAT ACACACACACGTGTACATATATGTATACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0003 a0003c0019t0003	a0003c0019t0003g0068 a0003c0019t0003g0068	1	318	0.0031	-84	c.126 others(101): Show c.1264+205_1264+288delACATATATGTATATACACACACATGTGT GTGTACATATATGTATATACACACACACGTGTACATATATGTATACACAC ACATGT		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GFPT2_chr5_180295698_180358336	180296871	ACACACAC others(77): Show ACACACACACAAGGAAGTACAACACACACGTAAGGAAGTACACACACGGA AGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG01255.hp2 others(27): Show HG00438.hp2 HG01109.hp2 HG01255.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02257.hp2 HG02523.hp1 HG02615.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 NA18950.hp1 NA18954.hp2 NA18960.hp1 NA18968.hp2 NA18969.hp1 NA18979.hp2 NA18981.hp2 NA18990.hp1 NA19012.hp1 NA19054.hp2 NA19063.hp2 NA19070.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0002c0008 a0003c0006	a0001c0001t0006 a0001c0004t0001 a0001c0004t0002 others(11): Show a0001c0001t0006 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0024 a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 a0001c0005t0015 a0002c0002t0003 a0002c0002t0008 a0002c0008t0001 a0003c0006t0001 a0003c0006t0012	a0001c0001t0006g0374 a0001c0004t0001g0004 a0001c0004t0001g0060 others(26): Show a0001c0001t0006g0374 a0001c0004t0001g0004 a0001c0004t0001g0060 a0001c0004t0001g0074 a0001c0004t0001g0081 a0001c0004t0001g0110 a0001c0004t0001g0170 a0001c0004t0001g0176 a0001c0004t0001g0178 a0001c0004t0001g0235 a0001c0004t0001g0245 a0001c0004t0002g0326 a0001c0004t0010g0034 a0001c0004t0010g0050 a0001c0004t0024g0072 a0001c0005t0004g0113 a0001c0005t0004g0198 a0001c0005t0004g0202 a0001c0005t0004g0237 a0001c0005t0004g0238 a0001c0005t0005g0029 a0001c0005t0011g0254 a0001c0005t0015g0321 a0001c0005t0015g0366 a0002c0002t0003g0098 a0002c0002t0008g0247 a0002c0008t0001g0174 a0003c0006t0001g0062 a0003c0006t0012g0173	30	412	0.0728	-84	c.46 others(95): Show c.4609_*4692delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3826		chr5	TogoVar
GGT1_chr22_24598193_24633996	24605586	ATAATATT others(77): Show ATAATATTATATAATGTGTATTATATATATAATATTATATAATGTGTATT ATATATATAATATTATATAATGTGTATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(13): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG02015.hp1 HG02135.hp2 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18999.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19066.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0001 a0001c0001t0001 a0001c0017t0001	a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 others(13): Show a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0017t0001g0088	16	426	0.0376	-84	c.-42 others(103): Show c.-429+2087_-429+2170delATAATATTATATAATGTGTATTATAT ATATAATATTATATAATGTGTATTATATATTTAATATTATATAATGTGTA TTATATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605614	ATAATATT others(77): Show ATAATATTATATAATGTGTATTATATATATAATATTATATAATGTGTATT ATATATTTAATATTATATAATGTGTATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	426	0.0024	-84	c.-42 others(103): Show c.-429+2115_-429+2198delATAATATTATATAATGTGTATTATAT ATTTAATATTATATAATGTGTATTATATATTTAATATTATATAATGTGTA TTATATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GHR_chr5_42418439_42726878	42564101	AGTGTGAG others(77): Show AGTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATC TCACAAAGTGTGAGATTTATTTGAAATCTCACAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02572.hp2 others(7): Show HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0005 others(1): Show a0001c0001 a0002c0002 a0003c0005 a0008c0009	a0001c0001t0002 a0002c0002t0001 a0003c0005t0002 others(2): Show a0001c0001t0002 a0002c0002t0001 a0003c0005t0002 a0008c0009t0001 a0008c0009t0006	a0001c0001t0002g0106 a0002c0002t0001g0109 a0002c0002t0001g0110 others(7): Show a0001c0001t0002g0106 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0159 a0003c0005t0002g0095 a0003c0005t0002g0111 a0008c0009t0001g0112 a0008c0009t0006g0081	10	210	0.0476	-84	c.-11 others(101): Show c.-11-1679_-11-1596delTGTGTGAGATTTATTTGAAATCTCACAA AGTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATC TCACAA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564241	AGTGTGAG others(77): Show AGTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATC TCACAAAGTGTGAGATTTATTTGAAATCTCACAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp1 others(13): Show HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01257.hp1 HG02015.hp2 HG02083.hp2 HG02523.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA19000.hp2 NA19006.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0007	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0007c0011	a0002c0002t0001 a0003c0003t0003 a0004c0004t0011 others(6): Show a0002c0002t0001 a0003c0003t0003 a0004c0004t0011 a0004c0004t0012 a0004c0004t0016 a0004c0004t0030 a0004c0004t0032 a0004c0004t0033 a0007c0011t0001	a0002c0002t0001g0026 a0003c0003t0003g0010 a0003c0003t0003g0022 others(13): Show a0002c0002t0001g0026 a0003c0003t0003g0010 a0003c0003t0003g0022 a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0012g0007 a0004c0004t0012g0009 a0004c0004t0012g0130 a0004c0004t0016g0023 a0004c0004t0016g0027 a0004c0004t0016g0028 a0004c0004t0030g0149 a0004c0004t0032g0004 a0004c0004t0033g0006 a0007c0011t0001g0005 a0007c0011t0001g0008	16	210	0.0762	-84	c.-11 others(101): Show c.-11-1595_-11-1512delAGTGTGAGATTTATTTGAAATCTCACAA AGTGTGAGATTTATTTGAAATCTCACAATGTGTGAGATTTATTTGAAATC TCACAA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564269	AGTGTGAG others(77): Show AGTGTGAGATTTATTTGAAATCTCACAAAGTGTGAGATTTATTTGAAATC TCACAATGTGTGAGATTTATTTGAAATCTCACAAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	210	0.0048	-84	c.-11 others(101): Show c.-11-1561_-11-1478delAGATTTATTTGAAATCTCACAATGTGTG AGATTTATTTGAAATCTCACAATGTGTGAGATTTATTTGAAATCTCACAA AGTGTG		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GLT8D2_chr12_103983987_104055187	104021887	AGAAGAAG others(77): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	416	0.0024	-84	c.-16 others(101): Show c.-163-480_-163-397delCTCTTCCTCTTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344941	ATAGCCTC others(77): Show ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTC TCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp2 HG00423.hp1 HG00609.hp2 others(51): Show HG00140.hp2 HG00423.hp1 HG00609.hp2 HG00639.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03453.hp1 HG03579.hp1 HG03704.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18956.hp1 NA18959.hp1 NA18965.hp2 NA18967.hp1 NA18985.hp1 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp2 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp2	a0001 a0027 a0041 others(1): Show a0001 a0027 a0041 a0048	a0001c0001 a0027c0050 a0041c0056 others(1): Show a0001c0001 a0027c0050 a0041c0056 a0048c0043	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0027c0050t0003 a0041c0056t0002 a0048c0043t0003	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 others(18): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0101 a0001c0001t0003g0120 a0001c0001t0005g0016 a0001c0001t0005g0056 a0001c0001t0005g0111 a0001c0001t0005g0115 a0001c0001t0016g0037 a0001c0001t0028g0109 a0001c0001t0032g0114 a0001c0001t0034g0117 a0001c0001t0035g0119 a0027c0050t0003g0122 a0041c0056t0002g0131 a0048c0043t0003g0110	54	301	0.1794	-84	c.835 others(91): Show c.835_918delCGTGAACAGGAGGAGAGGCTATGTGAACAGGAGGAGAG GCTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTA	p.Arg others(13): Show p.Arg279_Leu306del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1018/4452	835/1569	279/522			chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345150	CACAGCCT others(77): Show CACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCT CTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18522.hp1 NA18522.hp1	a0049 a0049	a0049c0042 a0049c0042	a0049c0042t0005 a0049c0042t0005	a0049c0042t0005g0106 a0049c0042t0005g0106	1	301	0.0033	-84	c.626 others(91): Show c.626_709delATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGG CTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTGT	p.His others(19): Show p.His209_Cys237delinsArg	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	809/4452	626/1569	209/522			chr15	TogoVar
GP1BB_chr22_19718539_19729771	19727618	GCGCTGTG others(77): Show GCGCTGTGGGGGCGGTGAGGACGCTGCAGATGTTGACGCTGTGGATGCTG TGGGGGTGGCGAGGGCTCTTTGGACGCGGTGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03471.hp1 NA19074.hp2 HG02976.hp2 HG03471.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	410	0.0073	-84	c.31 others(95): Show c.3155_*3238delCGCTGTGGGGGCGGTGAGGACGCTGCAGATGTTG ACGCTGTGGATGCTGTGGGGGTGGCGAGGGCTCTTTGGACGCGGTGAGGA		GP1BB	ENSG00000203618.6	transcript	ENST00000366425.4	protein_coding					2848		chr22	TogoVar
GPC6_chr13_93221807_94413020	93231314	CATATATA others(77): Show CATATATATATATATACGTATATATATATATACATATATATATATACGTA TATATATATATATATACATATATATATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp2 HG01975.hp2 others(12): Show HG00558.hp1 HG01433.hp2 HG01975.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG04228.hp2 NA18522.hp2 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 others(11): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0003t0011 a0001c0003t0026 a0002c0002t0002 a0002c0002t0003 a0002c0002t0028 a0004c0005t0018	a0001c0001t0008g0060 a0001c0001t0012g0002 a0001c0001t0012g0003 others(12): Show a0001c0001t0008g0060 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0019g0074 a0001c0001t0020g0061 a0001c0001t0022g0040 a0001c0001t0023g0013 a0001c0001t0024g0014 a0001c0001t0027g0005 a0001c0003t0011g0015 a0001c0003t0026g0006 a0002c0002t0002g0008 a0002c0002t0003g0011 a0002c0002t0028g0004 a0004c0005t0018g0012	15	76	0.1974	-84	c.160 others(101): Show c.160+3714_160+3797delCGTATATATATATATACATATATATATA TACGTATATATATATATATATACATATATATATATATATGTATATATATA TATATA		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR146_chr7_1039546_1064261	1041274	ACCTGGGC others(77): Show ACCTGGGCTCCGCGCTGCGGGGAAGGGGACCTGGGGTCCGCGCTGCGGGG AAGGGGGCCTGGGGTCCGCGCTGCGGGGAAGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG01256.hp1 others(32): Show HG00733.hp1 HG00738.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02145.hp2 HG02280.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18951.hp2 NA18961.hp2 NA18965.hp2 NA18983.hp1 NA18994.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0002t0005 a0001c0012t0006 a0002c0003t0004	a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0216 others(26): Show a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0006g0054 a0001c0001t0006g0103 a0001c0001t0006g0223 a0001c0001t0006g0227 a0001c0001t0007g0049 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0209 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0218 a0001c0001t0007g0221 a0001c0001t0019g0210 a0001c0002t0005g0228 a0001c0012t0006g0222 a0002c0003t0004g0225	35	434	0.0807	-84	c.-34 others(95): Show c.-3408_-3325delCCTGGGCTCCGCGCTGCGGGGAAGGGGACCTGGG GTCCGCGCTGCGGGGAAGGGGGCCTGGGGTCCGCGCTGCGGGGAAGGGGG		GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding					3271		chr7	TogoVar
GZMA_chr5_55097646_55115252	55106266	TAAAATAA others(77): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATATAAAATAAAATAA AATATAAAATAAAATAAAATAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	390	0.0026	-84	c.215 others(99): Show c.215+651_215+734delAATAAAATAAAATAAAATAAAATAAAATAA AATATAAAATAAAATAAAATATAAAATAAAATAAAATAAATAAAATAAAA TAAA		GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
HACL1_chr3_15555699_15606569	15592530	ATGTATAC others(77): Show ATGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACAT GTGTGCGTGTATACACATGTACGCACATGTGTGCG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0403 a0001c0001t0002g0403	1	428	0.0023	-84	c.228 others(99): Show c.228-934_228-851delCGCACACATGTGCGTACATGTGTATACACG CACACATGTGCGTACATGTGTATACACGCACACATGTGCGTACATGTGTA TACA		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HACL1_chr3_15555699_15606569	15592941	CATGTGTG others(77): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG00738.hp2 others(19): Show HG00280.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01261.hp1 HG02451.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG03239.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18959.hp2 NA19011.hp1 NA19030.hp2 NA19082.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 others(17): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0320 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0002t0001g0333 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0369 a0001c0002t0001g0372	22	428	0.0514	-84	c.228 others(101): Show c.228-1345_228-1262delATGCGTACATGTGTATACACGCACACAT GTGCGTACATGTGTATACACGCACACATGTGCGTACATGTGTATACACGC ACACAT		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HADHB_chr2_26239939_26295465	26275190	ATTTCTTA others(77): Show ATTTCTTAGGCCCTATTGCCTGTATTAATAATGTTAATATACAGTCCTTG CAACCTAAAAGCTAACATAATTTTCAGCCAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp1 NA18964.hp2 others(1): Show HG00408.hp2 HG02056.hp1 NA18964.hp2 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0015 a0002c0002t0002g0189 a0002c0002t0002g0190	4	290	0.0138	-84	c.354 others(101): Show c.354+1488_354+1571delTGCAACCTAAAAGCTAACATAATTTTCA GCCAAAGAGTTTCTTAGGCCCTATTGCCTGTATTAATAATGTTAATATAC AGTCCT		HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
HDAC4_chr2_239043168_239406020	239176273	TCCCTCCC others(77): Show TCCCTCCCTCTGCCCGGCCTCCCTCCCTCTGCCCGGCCTTCTGCGCCCGC ACTCCCTCCCTCTGCCCAGCCTTCCGTGCCCGCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp2 others(62): Show HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03130.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp1 NA18993.hp1 NA19057.hp1 NA19057.hp2 NA19068.hp2 NA19079.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0033 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0020 a0001c0002t0024 a0001c0003t0005 a0001c0004t0068 a0001c0004t0073 a0001c0005t0007 a0001c0006t0002 a0001c0006t0011 a0001c0006t0045 a0001c0006t0048 a0001c0010t0041 a0001c0015t0047 a0001c0015t0074 a0004c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0107 others(62): Show a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0002g0112 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0087 a0001c0001t0003g0147 a0001c0001t0004g0232 a0001c0001t0005g0083 a0001c0001t0005g0099 a0001c0001t0006g0116 a0001c0001t0006g0218 a0001c0001t0007g0052 a0001c0001t0008g0166 a0001c0001t0010g0125 a0001c0001t0011g0212 a0001c0001t0018g0056 a0001c0001t0018g0202 a0001c0001t0033g0152 a0001c0001t0046g0055 a0001c0002t0001g0012 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0153 a0001c0002t0001g0208 a0001c0002t0001g0240 a0001c0002t0002g0162 a0001c0002t0006g0030 a0001c0002t0006g0234 a0001c0002t0009g0100 a0001c0002t0009g0185 a0001c0002t0012g0111 a0001c0002t0012g0242 a0001c0002t0015g0120 a0001c0002t0016g0051 a0001c0002t0020g0086 a0001c0002t0024g0145 a0001c0002t0024g0164 a0001c0003t0005g0230 a0001c0004t0068g0091 a0001c0004t0073g0014 a0001c0005t0007g0032 a0001c0006t0002g0063 a0001c0006t0011g0158 a0001c0006t0045g0135 a0001c0006t0048g0060 a0001c0010t0041g0066 a0001c0015t0047g0037 a0001c0015t0074g0028 a0004c0014t0002g0101 a0004c0014t0002g0102	65	242	0.2686	-84	c.490 others(98): Show c.490+56_490+139delGTGCGGGCACGGAAGGCTGGGCAGAGGGAGG GAGTGCGGGCGCAGAAGGCCGGGCAGAGGGAGGGAGGCCGGGCAGAGGGA GGG		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	5/26						chr2	TogoVar
HECTD4_chr12_112155195_112387431	112323961	TCTTTCTT others(77): Show TCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01884.hp2 HG02896.hp1 others(4): Show HG00597.hp2 HG01884.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp2 NA19030.hp2 NA19240.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0021 a0001c0001 a0014c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0014c0021t0017	a0001c0001t0001g0121 a0001c0001t0004g0067 a0001c0001t0004g0069 others(4): Show a0001c0001t0001g0121 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0005g0070 a0001c0001t0006g0254 a0001c0001t0007g0034 a0014c0021t0017g0267	7	270	0.0259	-84	c.178 others(101): Show c.178-4303_178-4220delGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGAAAG		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75						chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323969	CCTTCCTT others(77): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG03139.hp1 HG01099.hp2 HG01243.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0216 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0216	3	270	0.0111	-84	c.178 others(101): Show c.178-4311_178-4228delAAAGAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75						chr12	TogoVar
HERPUD2_chr7_35627659_35700135	35682250	CGTGTGTG others(77): Show CGTGTGTGTGTGTATATATAGATATATACACATACACACGTGTGTGTGTG TATATATAGATATATACACATACACACGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0383 a0002c0002t0002g0383	1	392	0.0026	-84	c.148 others(101): Show c.148-9056_148-8973delACACACACGTGTGTATGTGTATATATCT ATATATACACACACACACGTGTGTATGTGTATATATCTATATATACACAC ACACAC		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8						chr7	TogoVar
HHAT_chr1_210323902_210681290	210466084	GAATGAAT others(77): Show GAATGAATTGCAAGGAATTGCAAGGAATCGCAAGGAATCGCAAGGAATGA ATTGCAAGGAATCGCAAGGAATTGCAAGGAATTGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0015 a0001c0002t0011g0016 a0001c0002t0011g0015 a0001c0002t0011g0016	2	268	0.0075	-84	c.100 others(103): Show c.1007+1433_1007+1516delGAATTGCAAGGAATTGCAAGGAATCG CAAGGAATCGCAAGGAATGAATTGCAAGGAATCGCAAGGAATTGCAAGGA ATTGCAAT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HIP1_chr7_75528298_75743941	75663966	ATATATAC others(77): Show ATATATACACATATATGTGTATATATATACACATATATGTGTATATATAT ACACATATATGTGTATATATATACACATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00642.hp2 others(2): Show HG00408.hp2 HG00639.hp1 HG00642.hp2 HG02258.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0023t0014	a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0003g0238 others(2): Show a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0003g0238 a0001c0001t0008g0212 a0001c0023t0014g0219	5	254	0.0197	-84	c.121 others(103): Show c.121-64803_121-64720delCACATATATGTGTATATATATACACA TATATGTGTATATATATACACATATATGTGTATATATATACACATATATG TGTATATA		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30						chr7	TogoVar
HIVEP3_chr1_41501365_41923922	41635541	TGTATGTA others(77): Show TGTATGTATATATACATACATATACATACGTATGTATATATACATACATA TACATACGTATGTATATATACATACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(78): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18974.hp2 NA18986.hp2 NA19003.hp2 NA19043.hp1 NA19057.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0029 a0031 a0033	a0001c0001 a0001c0003 a0001c0004 others(30): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0044 a0002c0002 a0003c0006 a0003c0038 a0004c0007 a0004c0018 a0006c0012 a0006c0031 a0007c0008 a0009c0009 a0010c0014 a0011c0021 a0011c0022 a0012c0016 a0013c0015 a0014c0017 a0015c0013 a0016c0023 a0018c0024 a0019c0020 a0021c0040 a0022c0039 a0023c0027 a0024c0030 a0025c0043 a0027c0026 a0029c0041 a0031c0036 a0033c0019	a0001c0001t0002 a0001c0001t0005 a0001c0001t0078 others(61): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0078 a0001c0003t0002 a0001c0003t0028 a0001c0003t0031 a0001c0003t0034 a0001c0003t0036 a0001c0003t0038 a0001c0003t0044 a0001c0004t0006 a0001c0004t0007 a0001c0011t0004 a0001c0011t0021 a0001c0044t0024 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0013 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0029 a0002c0002t0032 a0002c0002t0033 a0002c0002t0035 a0002c0002t0037 a0002c0002t0045 a0002c0002t0056 a0003c0006t0030 a0003c0006t0041 a0003c0006t0057 a0003c0006t0058 a0003c0038t0059 a0004c0007t0006 a0004c0007t0009 a0004c0018t0009 a0006c0012t0010 a0006c0012t0042 a0006c0012t0050 a0006c0031t0010 a0007c0008t0007 a0009c0009t0016 a0009c0009t0046 a0010c0014t0040 a0011c0021t0004 a0011c0022t0015 a0012c0016t0003 a0013c0015t0014 a0014c0017t0052 a0014c0017t0053 a0015c0013t0005 a0016c0023t0010 a0018c0024t0051 a0019c0020t0008 a0021c0040t0043 a0022c0039t0039 a0023c0027t0003 a0024c0030t0025 a0025c0043t0055 a0027c0026t0054 a0029c0041t0027 a0031c0036t0048 a0033c0019t0015	a0001c0001t0002g0011 a0001c0001t0005g0035 a0001c0001t0005g0055 others(78): Show a0001c0001t0002g0011 a0001c0001t0005g0035 a0001c0001t0005g0055 a0001c0001t0078g0004 a0001c0003t0002g0009 a0001c0003t0002g0031 a0001c0003t0002g0066 a0001c0003t0002g0110 a0001c0003t0002g0133 a0001c0003t0028g0029 a0001c0003t0031g0065 a0001c0003t0034g0107 a0001c0003t0036g0112 a0001c0003t0038g0097 a0001c0003t0044g0030 a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0011t0004g0033 a0001c0011t0004g0041 a0001c0011t0021g0040 a0001c0044t0024g0042 a0002c0002t0002g0114 a0002c0002t0002g0126 a0002c0002t0003g0048 a0002c0002t0008g0017 a0002c0002t0008g0127 a0002c0002t0013g0099 a0002c0002t0013g0115 a0002c0002t0022g0084 a0002c0002t0023g0046 a0002c0002t0026g0100 a0002c0002t0029g0059 a0002c0002t0032g0103 a0002c0002t0033g0132 a0002c0002t0035g0123 a0002c0002t0037g0094 a0002c0002t0045g0015 a0002c0002t0056g0134 a0003c0006t0030g0045 a0003c0006t0041g0091 a0003c0006t0057g0023 a0003c0006t0058g0021 a0003c0038t0059g0080 a0004c0007t0006g0036 a0004c0007t0006g0050 a0004c0007t0006g0051 a0004c0007t0009g0085 a0004c0018t0009g0056 a0004c0018t0009g0058 a0006c0012t0010g0037 a0006c0012t0042g0052 a0006c0012t0050g0003 a0006c0031t0010g0073 a0007c0008t0007g0020 a0007c0008t0007g0061 a0007c0008t0007g0067 a0009c0009t0016g0079 a0009c0009t0016g0082 a0009c0009t0046g0086 a0010c0014t0040g0075 a0011c0021t0004g0074 a0011c0022t0015g0068 a0012c0016t0003g0083 a0012c0016t0003g0092 a0013c0015t0014g0032 a0014c0017t0052g0034 a0014c0017t0053g0043 a0015c0013t0005g0002 a0015c0013t0005g0039 a0016c0023t0010g0081 a0018c0024t0051g0064 a0019c0020t0008g0070 a0021c0040t0043g0078 a0022c0039t0039g0008 a0023c0027t0003g0077 a0024c0030t0025g0090 a0025c0043t0055g0044 a0027c0026t0054g0076 a0029c0041t0027g0005 a0031c0036t0048g0119 a0033c0019t0015g0057	81	134	0.6045	-84	c.-72 others(103): Show c.-720-6678_-720-6595delGTATGTATATGTATGTATATATACAT ACGTATGTATATGTATGTATATATACATACGTATGTATATGTATGTATAT ATACATAC		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8						chr1	TogoVar
HMCN2_chr9_130260760_130439123	130277805	CCACCACC others(77): Show CCACCACCATCATCATCATCACCACCACCATCATCATCATCACCACCACC ACCACCATCATCATCATCACCACCACCATCATCAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01516.hp1 HG01517.hp1 HG00140.hp1 HG01516.hp1 HG01517.hp1	a0002 a0031 a0002 a0031	a0002c0171 a0031c0025 a0002c0171 a0031c0025	a0002c0171t0002 a0031c0025t0002 a0002c0171t0002 a0031c0025t0002	a0002c0171t0002g0189 a0031c0025t0002g0190 a0031c0025t0002g0191 a0002c0171t0002g0189 a0031c0025t0002g0190 a0031c0025t0002g0191	3	258	0.0116	-84	c.260 others(101): Show c.260-6789_260-6706delTCATCATCATCACCACCACCATCATCAT CATCACCACCACCACCACCATCATCATCATCACCACCACCATCATCATCA CCACCA		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130429686	GTACGGGG others(77): Show GTACGGGGACACCCACCCTCTGGCCACACCGCTGCAGCTGCCCCAGGGGT TACCGGATGCAGGGCCCCAGCCTGCCCTGCCTAGT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG01516.hp1 others(13): Show HG00741.hp1 HG01175.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG02004.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03654.hp1 NA18906.hp1 NA18979.hp1 NA19057.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp1	a0015 a0021 a0025 others(9): Show a0015 a0021 a0025 a0031 a0041 a0048 a0069 a0084 a0114 a0152 a0162 a0165	a0015c0008 a0021c0012 a0025c0024 others(9): Show a0015c0008 a0021c0012 a0025c0024 a0031c0025 a0041c0034 a0048c0100 a0069c0061 a0084c0073 a0114c0220 a0152c0170 a0162c0181 a0165c0186	a0015c0008t0001 a0021c0012t0001 a0025c0024t0002 others(9): Show a0015c0008t0001 a0021c0012t0001 a0025c0024t0002 a0031c0025t0002 a0041c0034t0001 a0048c0100t0001 a0069c0061t0003 a0084c0073t0003 a0114c0220t0001 a0152c0170t0002 a0162c0181t0002 a0165c0186t0005	a0015c0008t0001g0025 a0015c0008t0001g0073 a0021c0012t0001g0084 others(13): Show a0015c0008t0001g0025 a0015c0008t0001g0073 a0021c0012t0001g0084 a0021c0012t0001g0112 a0025c0024t0002g0181 a0025c0024t0002g0186 a0031c0025t0002g0190 a0031c0025t0002g0191 a0041c0034t0001g0011 a0048c0100t0001g0026 a0069c0061t0003g0121 a0084c0073t0003g0082 a0114c0220t0001g0045 a0152c0170t0002g0170 a0162c0181t0002g0162 a0165c0186t0005g0161	16	258	0.0620	-84	c.143 others(102): Show c.14326+27_14326+110delCACCGCTGCAGCTGCCCCAGGGGTTAC CGGATGCAGGGCCCCAGCCTGCCCTGCCTAGTTACGGGGACACCCACCCT CTGGCCA		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	94/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HMOX1_chr22_35376096_35399207	35389319	CTTCTTTC others(77): Show CTTCTTTCTTTCTTTCTTTCTTCTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03490.hp2 NA19000.hp2 others(1): Show HG00408.hp1 HG03490.hp2 NA19000.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0072	4	384	0.0104	-84	c.637 others(99): Show c.637-544_637-461delTTCTTTCTTTCTTTCTTTCTTCTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTT		HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4						chr22	TogoVar
HNRNPA3_chr2_177207794_177228959	177224951	ATTTCAGT others(77): Show ATTTCAGTTTAATACTTAGGTCCTGGAATAATAAAGGACAGGTGTGGACT TATTTCCAACAAAAGTATATTTACCCTTGTTTTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	332	0.0030	-84	c.55 others(95): Show c.5560_*5643delTTTCAGTTTAATACTTAGGTCCTGGAATAATAAA GGACAGGTGTGGACTTATTTCCAACAAAAGTATATTTACCCTTGTTTTCT		HNRNPA3	ENSG00000170144.22	transcript	ENST00000392524.7	protein_coding					993		chr2	TogoVar
HRAS_chr11_527242_540576	530895	GAGTGTGG others(77): Show GAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAG AAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	397	0.0025	-84	c.15 others(95): Show c.1549_*1632delGGCCCTTCTCTCCAGGGGACGCCACACTCCCCCT TCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACT		HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding					1346		chr11	TogoVar
HRH3_chr20_62209960_62225278	62213436	GGGGGAGG others(77): Show GGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGTAA GGAGAGCGGGGATGGGGGGTAAGGAGAGCGGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 NA19074.hp2 HG01515.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0033 a0001c0002t0001g0011 a0001c0001t0001g0033 a0001c0002t0001g0011	2	368	0.0054	-84	c.24 others(95): Show c.2486_*2569delATCCCCGCTCTCCTTACCCCCCATCCCCGCTCTC CTTACCCCCCATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1523		chr20	TogoVar
HSD3B2_chr1_119410150_119428034	119421381	ATATATAT others(77): Show ATATATATATGTATATATATATGTATATATATATATGTATATATATGTAT ATATATATATGTATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04199.hp2 HG04204.hp1 others(1): Show HG04115.hp1 HG04199.hp2 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0057 a0001c0001t0002g0028 a0001c0001t0002g0057	4	442	0.0091	-84	c.308 others(99): Show c.308-418_308-335delGTATATATATATGTATATATATATATGTAT ATATATGTATATATATATATGTATATATATATGTATATATATATGTATAT ATAT		HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
HTT_chr4_3069681_3248957	3094533	TGGGCGGG others(77): Show TGGGCGGGGGCTGCCCCCCACCTCCCGGACGGGGCGGGTGGCCGGGCGGG GGCTGCCCACCACCTCCCGGACGGGGCGGCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG03579.hp2 HG01243.hp1 HG02622.hp2 HG03579.hp2	a0023 a0077 a0083 a0023 a0077 a0083	a0023c0039 a0077c0102 a0083c0116 a0023c0039 a0077c0102 a0083c0116	a0023c0039t0016 a0077c0102t0029 a0083c0116t0016 a0023c0039t0016 a0077c0102t0029 a0083c0116t0016	a0023c0039t0016g0008 a0077c0102t0029g0006 a0083c0116t0016g0005 a0023c0039t0016g0008 a0077c0102t0029g0006 a0083c0116t0016g0005	3	294	0.0102	-84	c.348 others(101): Show c.348-4683_348-4600delACCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGCTGCCCCCCACCTCCCGGACGGGGCGGGTGGCCGGGCGGGGG CTGCCC		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	2/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3094649	GGCGGGTG others(77): Show GGCGGGTGGCCGGGCGGGGGCTGCCCCCCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGCTGCCCCCCACCTCCCGGACGGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0003 a0014c0014t0003	a0014c0014t0003g0015 a0014c0014t0003g0015	1	294	0.0034	-84	c.348 others(101): Show c.348-4620_348-4537delGTGGCCGGGCGGGGGCTGCCCCCCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCACCTCCCGGACG GAGCGG		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	2/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
IGSF21_chr1_18102798_18383483	18273399	CCTTTCCT others(77): Show CCTTTCCTTTCCTTTCTTTTCCTTTCCTTTCCTTTCTTTCTTTCTCACTT TCTTTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	248	0.0040	-84	c.184 others(103): Show c.184-18461_184-18378delCTTTCCTTTCTTTTCCTTTCCTTTCC TTTCTTTCTTTCTCACTTTCTTTCTTTCTCTCTCTTTCTTTCTTTCTTTC TTTCTTTC		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IL1RL2_chr2_102182023_102245002	102195577	CTTTCTTT others(77): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	374	0.0027	-84	c.489 others(101): Show c.489+3459_489+3542delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTTTCT TTCTTT		IL1RL2	ENSG00000115598.10	transcript	ENST00000264257.7	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ILRUN_chr6_34582288_34701767	34683415	TATACATA others(77): Show TATACATATATATACATATATATATACATATATATATACATATATATACA TATATATACACATATATATATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0313 a0001c0001t0013g0313	1	316	0.0032	-84	c.158 others(103): Show c.158+12947_158+13030delGTATATATATATGTATATATATATGT GTATATATATGTATATATATGTATATATATATGTATATATATATGTATAT ATATGTAT		ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4						chr6	TogoVar
ING5_chr2_241697039_241734478	241714812	TCTCAAAC others(77): Show TCTCAAACATCTGGGCTCAAGCAGTCCGCCTGCCTCAACCTCTCCGTGTG TTGAGATTACAGGCGTGAGCCACTGCGTCTGGCCG	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	394	0.0025	-84	c.482 others(101): Show c.482+2742_482+2825delCTCAAACATCTGGGCTCAAGCAGTCCGC CTGCCTCAACCTCTCCGTGTGTTGAGATTACAGGCGTGAGCCACTGCGTC TGGCCG		ING5	ENSG00000168395.16	transcript	ENST00000313552.11	protein_coding	5/7						chr2	TogoVar
INPP4B_chr4_142018160_142851301	142565963	CCAACGTA others(77): Show CCAACGTACGTACACTCATATGTGTTAGAGGCACTTTCAGTTTGGCATTC ATTCAGTTCACAAAGAGATCCATTTAAAGACTTTA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	90	0.0111	-84	c.-19 others(107): Show c.-190-103321_-190-103238delTAAAGTCTTTAAATGGATCTCT TTGTGAACTGAATGAATGCCAAACTGAAAGTGCCTCTAACACATATGAGT GTACGTACGTTG		INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25						chr4	TogoVar
INPP4B_chr4_142018160_142851301	142566009	ATTCATTC others(77): Show ATTCATTCAGTTCACAAAGAGATCCATTTAAAGACTTTACAACGTACGTA CACTCATATGTGTTAGAGGCACTTTCAGTTTGGCC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0060 a0001c0002t0010g0060	1	90	0.0111	-84	c.-19 others(107): Show c.-190-103367_-190-103284delGGCCAAACTGAAAGTGCCTCTA ACACATATGAGTGTACGTACGTTGTAAAGTCTTTAAATGGATCTCTTTGT GAACTGAATGAA		INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25						chr4	TogoVar

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Search Results (Total: 10000 hits)