Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
HDAC3_chr5_141615881_141641849	141624372	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18974.hp2 NA18964.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0064 a0001c0002t0001g0052 a0001c0002t0001g0064	2	90	0.0222	-19	c.121 others(36): Show c.1217+817_1217+835delTTTTTTTTTTTTTTTTTTT		HDAC3	ENSG00000171720.10	transcript	ENST00000305264.8	protein_coding	14/14						chr5	TogoVar
HDAC4_chr2_239043168_239406020	239096568	ACACCCCC others(12): Show ACACCCCCCACGAACACCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(53): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01993.hp2 HG02132.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp1 HG03654.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18993.hp2 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0016 a0001c0027 a0001c0028 a0001c0035 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0031 a0001c0001t0039 a0001c0001t0057 a0001c0002t0001 a0001c0002t0009 a0001c0002t0043 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0022 a0001c0003t0027 a0001c0003t0034 a0001c0003t0065 a0001c0004t0062 a0001c0004t0068 a0001c0006t0001 a0001c0006t0002 a0001c0006t0011 a0001c0006t0026 a0001c0006t0045 a0001c0006t0048 a0001c0007t0003 a0001c0007t0021 a0001c0007t0036 a0001c0010t0008 a0001c0010t0041 a0001c0012t0028 a0001c0012t0030 a0001c0012t0050 a0001c0016t0019 a0001c0027t0009 a0001c0028t0013 a0001c0035t0067 a0009c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0085 a0001c0001t0001g0105 others(53): Show a0001c0001t0001g0004 a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0136 a0001c0001t0001g0231 a0001c0001t0002g0195 a0001c0001t0002g0236 a0001c0001t0003g0093 a0001c0001t0005g0082 a0001c0001t0005g0099 a0001c0001t0005g0160 a0001c0001t0015g0238 a0001c0001t0017g0029 a0001c0001t0025g0132 a0001c0001t0031g0092 a0001c0001t0039g0219 a0001c0001t0057g0088 a0001c0002t0001g0171 a0001c0002t0001g0213 a0001c0002t0001g0240 a0001c0002t0009g0100 a0001c0002t0009g0170 a0001c0002t0009g0172 a0001c0002t0009g0184 a0001c0002t0043g0089 a0001c0003t0001g0233 a0001c0003t0002g0144 a0001c0003t0004g0019 a0001c0003t0004g0044 a0001c0003t0022g0047 a0001c0003t0027g0134 a0001c0003t0034g0009 a0001c0003t0065g0040 a0001c0004t0062g0077 a0001c0004t0068g0091 a0001c0006t0001g0192 a0001c0006t0002g0065 a0001c0006t0002g0190 a0001c0006t0002g0194 a0001c0006t0011g0157 a0001c0006t0026g0060 a0001c0006t0045g0135 a0001c0006t0048g0062 a0001c0007t0003g0046 a0001c0007t0021g0026 a0001c0007t0036g0013 a0001c0010t0008g0228 a0001c0010t0041g0068 a0001c0012t0028g0133 a0001c0012t0030g0225 a0001c0012t0050g0153 a0001c0016t0019g0130 a0001c0027t0009g0148 a0001c0028t0013g0215 a0001c0035t0067g0045 a0009c0021t0001g0117	56	240	0.2333	-19	c.223 others(38): Show c.2234-1531_2234-1513delCAGGTGTTCGTGGGGGGTG		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	16/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239096628	CCTCCCAT others(12): Show CCTCCCATGGATGCCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp2 HG02809.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0005 a0001c0009t0054 a0001c0003t0005 a0001c0009t0054	a0001c0003t0005g0005 a0001c0009t0054g0122 a0001c0003t0005g0005 a0001c0009t0054g0122	2	240	0.0083	-19	c.223 others(38): Show c.2234-1591_2234-1573delATGCTGGCATCCATGGGAG		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	16/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239116308	AGGTCCAA others(12): Show AGGTCCAATGCCGAACGCAG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02886.hp1 NA18522.hp2 HG01358.hp1 HG02886.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0033 a0001c0001t0003g0043 a0001c0007t0003g0078 a0001c0001t0003g0033 a0001c0001t0003g0043 a0001c0007t0003g0078	3	240	0.0125	-19	c.153 others(37): Show c.1534-1017_1534-999delCTGCGTTCGGCATTGGACC		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239176254	CCCCTCCC others(12): Show CCCCTCCCTCTGCCCGGCCT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19079.hp1 NA18977.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0169 a0001c0001t0004g0185 a0001c0001t0001g0169 a0001c0001t0004g0185	2	240	0.0083	-19	c.490 others(34): Show c.490+140_490+158delAGGCCGGGCAGAGGGAGGG		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	5/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239280929	CACAATGT others(12): Show CACAATGTACACACCACTCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG01358.hp1 others(6): Show HG01099.hp2 HG01243.hp2 HG01358.hp1 HG01884.hp2 HG02486.hp2 HG02615.hp2 HG03225.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0052 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0052 a0001c0001t0061 a0001c0003t0003 a0001c0003t0065 a0001c0009t0051 a0001c0010t0003 a0001c0015t0074	a0001c0001t0001g0004 a0001c0001t0003g0043 a0001c0001t0052g0075 others(6): Show a0001c0001t0001g0004 a0001c0001t0003g0043 a0001c0001t0052g0075 a0001c0001t0061g0076 a0001c0003t0003g0070 a0001c0003t0065g0040 a0001c0009t0051g0022 a0001c0010t0003g0036 a0001c0015t0074g0030	9	240	0.0375	-19	c.23- others(36): Show c.23-44284_23-44266delAGAGTGGTGTGTACATTGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239280955	TACACACC others(12): Show TACACACCACTCTACAATGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0047 a0001c0015t0047	a0001c0015t0047g0039 a0001c0015t0047g0039	1	193	0.0052	-19	c.23- others(36): Show c.23-44310_23-44292delTCATTGTAGAGTGGTGTGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239281456	CTACACAC others(12): Show CTACACACCACTCTACAATG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG01358.hp1 others(6): Show HG01099.hp2 HG01243.hp2 HG01358.hp1 HG01884.hp2 HG02486.hp2 HG02615.hp2 HG03225.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0052 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0052 a0001c0001t0061 a0001c0003t0003 a0001c0003t0065 a0001c0009t0051 a0001c0010t0003 a0001c0015t0074	a0001c0001t0001g0004 a0001c0001t0003g0043 a0001c0001t0052g0075 others(6): Show a0001c0001t0001g0004 a0001c0001t0003g0043 a0001c0001t0052g0075 a0001c0001t0061g0076 a0001c0003t0003g0070 a0001c0003t0065g0040 a0001c0009t0051g0022 a0001c0010t0003g0036 a0001c0015t0074g0030	9	240	0.0375	-19	c.23- others(36): Show c.23-44811_23-44793delCATTGTAGAGTGGTGTGTA		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239281614	CACAATGT others(12): Show CACAATGTACACACCACTCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0041 a0001c0010t0041	a0001c0010t0041g0068 a0001c0010t0041g0068	1	240	0.0042	-19	c.23- others(36): Show c.23-44969_23-44951delAGAGTGGTGTGTACATTGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239282263	CACAATGT others(12): Show CACAATGTACACACCACTCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	240	0.0042	-19	c.23- others(36): Show c.23-45618_23-45600delAGAGTGGTGTGTACATTGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239374386	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0092 a0001c0001t0031g0092	1	10	0.1000	-19	c.-21 others(40): Show c.-219-21487_-219-21469delAAAAAAAAAAAAAAAAAAA		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	1/26						chr2	TogoVar
HDAC9_chr7_18490749_19007416	18985769	GTGTGAGA others(12): Show GTGTGAGATGGTATCTCATT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0006 a0001c0003t0005g0006	1	154	0.0065	-19	c.317 others(38): Show c.3170+9817_3170+9835delTGTGAGATGGTATCTCATT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	25/25						chr7	TogoVar
HDC_chr15_50236947_50270726	50240886	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18959.hp2 NA18967.hp1 others(2): Show NA18954.hp2 NA18959.hp2 NA18967.hp1 NA19078.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0123	5	21	0.2381	-19	c.13 others(30): Show c.1355_*1373delTTTTTTTTTTTTTTTTTTT		HDC	ENSG00000140287.11	transcript	ENST00000267845.8	protein_coding					1060		chr15	TogoVar
HDGFL3_chr15_83122753_83212823	83193071	CATCTCTT others(12): Show CATCTCTTCCAGAGTCCCGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp1 HG02040.hp2 others(38): Show HG00408.hp2 HG01884.hp1 HG02040.hp2 HG02083.hp1 HG02572.hp1 HG02622.hp2 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03927.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp2 NA18982.hp1 NA18985.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19057.hp1 NA19060.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0023 a0001c0001t0030 a0001c0001t0035 a0001c0001t0057	a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 others(37): Show a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0084 a0001c0001t0005g0001 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0023g0025 a0001c0001t0030g0233 a0001c0001t0035g0224 a0001c0001t0057g0229	41	244	0.1680	-19	c.84+ others(36): Show c.84+14241_84+14259delACGGGACTCTGGAAGAGAT		HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5						chr15	TogoVar
HEATR1_chr1_236544005_236609516	236608870	GTTGAGCC others(12): Show GTTGAGCCTGGGAGGATCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03579.hp2 HG02258.hp1 HG03579.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0007 a0002c0007t0002g0260 a0002c0007t0002g0007 a0002c0007t0002g0260	2	386	0.0052	-19	c.-45 others(30): Show c.-4500_-4482delTTGATCCTCCCAGGCTCAA		HEATR1	ENSG00000119285.11	transcript	ENST00000366582.8	protein_coding					4355		chr1	TogoVar
HEATR4_chr14_73473484_73563947	73477075	TATATATA others(12): Show TATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02027.hp2 HG02148.hp2 HG01099.hp1 HG02027.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0197 a0001c0001t0003g0227 a0001c0002t0002g0264 a0001c0001t0003g0197 a0001c0001t0003g0227 a0001c0002t0002g0264	3	346	0.0087	-19	c.15 others(30): Show c.1512_*1530delTATATATATATATATATAT		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1408		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477076	ATATATAT others(12): Show ATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0283 a0001c0002t0002g0283	1	358	0.0028	-19	c.15 others(30): Show c.1511_*1529delATATATATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1407		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73477082	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG02647.hp1 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0007 a0001c0006 a0003c0007	a0001c0006t0003 a0003c0007t0003 a0001c0006t0003 a0003c0007t0003	a0001c0006t0003g0153 a0003c0007t0003g0250 a0001c0006t0003g0153 a0003c0007t0003g0250	2	349	0.0057	-19	c.15 others(30): Show c.1505_*1523delAAAAAAATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1401		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73535469	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0005 a0018c0018t0005	a0018c0018t0005g0066 a0018c0018t0005g0066	1	305	0.0033	-19	c.-15 others(38): Show c.-151-5244_-151-5226delAAAAAAAAAAAAAAAAAAA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31336245	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	351	0.0028	-19	c.336 others(38): Show c.3367+1212_3367+1230delTATATATATATATATATAT		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31407579	TTTATTTA others(12): Show TTTATTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0018 a0004c0004t0001g0018	1	354	0.0028	-19	c.-74 others(36): Show c.-74-4549_-74-4531delTATATATATATATAAATAA		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35						chr14	TogoVar
HEATR6_chr17_60036008_60083921	60048972	CATATATA others(12): Show CATATATATATAATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	245	0.0041	-19	c.254 others(36): Show c.2547+589_2548-585delATATATATTATATATATAT		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	16/19						chr17	TogoVar
HECW2_chr2_196189072_196598554	196273049	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02630.hp1 HG01361.hp2 HG02630.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0017 a0001c0002 a0003c0017	a0001c0002t0024 a0003c0017t0003 a0001c0002t0024 a0003c0017t0003	a0001c0002t0024g0085 a0003c0017t0003g0030 a0001c0002t0024g0085 a0003c0017t0003g0030	2	3	0.6667	-19	c.323 others(36): Show c.3238+953_3238+971delAAAAAAAAAAAAAAAAAAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	16/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196460776	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0032 a0001c0020t0016 a0001c0002t0032 a0001c0020t0016	a0001c0002t0032g0090 a0001c0020t0016g0037 a0001c0002t0032g0090 a0001c0020t0016g0037	2	32	0.0625	-19	c.-35 others(38): Show c.-35-27337_-35-27319delAAAAAAAAAAAAAAAAAAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28						chr2	TogoVar
HELT_chr4_185013490_185025953	185023060	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03195.hp2 HG02055.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	2	452	0.0044	-19	c.22 others(30): Show c.2289_*2307delCTCTCTCTCTCTCTCTCTC		HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding					2108		chr4	TogoVar
HELZ2_chr20_63553086_63579239	63573536	AGAGCCCT others(12): Show AGAGCCCTTGGCACAGTGCC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0249 a0001c0001t0109g0249	1	388	0.0026	-19	c.-83 others(36): Show c.-836-334_-836-316delGGCACTGTGCCAAGGGCTC		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	1/19						chr20	TogoVar
HELZ2_chr20_63553086_63579239	63579142	TGATGGGG others(12): Show TGATGGGGGTTTAGTCCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0018 a0007c0010t0003g0018	1	388	0.0026	-19	c.-58 others(30): Show c.-5814_-5796delCTGGGACTAAACCCCCATC		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding					4904		chr20	TogoVar
HEMGN_chr9_97921791_97943172	97923065	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA21309.hp2 HG02886.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0072 a0001c0001t0004g0029 a0001c0001t0004g0072	2	6	0.3333	-19	c.43 others(30): Show c.4300_*4318delTTTTTTTTTTTTTTTTTTT		HEMGN	ENSG00000136929.13	transcript	ENST00000616898.2	protein_coding					3725		chr9	TogoVar
HEPHL1_chr11_94016354_94119208	94019136	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 NA18962.hp2 NA19062.hp1 HG04115.hp2 NA18962.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0170 a0001c0001t0002g0246 a0001c0001t0003g0253 a0001c0001t0002g0170 a0001c0001t0002g0246 a0001c0001t0003g0253	3	23	0.1304	-19	c.-22 others(30): Show c.-2232_-2214delTTTTTTTTTTTTTTTTTTT		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding					2217		chr11	TogoVar
HERC1_chr15_63603618_63838948	63737497	TATATATA others(12): Show TATATATATCTTTTTTCCAG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0051 a0002c0003t0001g0051	1	210	0.0048	-19	c.252 others(38): Show c.2521-2667_2521-2649delCTGGAAAAAAGATATATAT		HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77						chr15	TogoVar
HERC6_chr4_88373852_88448097	88379971	AATATATA others(12): Show AATATATATAATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18948.hp1 HG03654.hp1 NA18948.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0011 a0004c0004t0001g0010 a0001c0001t0001g0011 a0004c0004t0001g0010	2	153	0.0131	-19	c.199 others(34): Show c.199+878_199+896delTAATATATAAATATATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380283	AATATATA others(12): Show AATATATAATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0047 a0008c0009t0001g0047	1	114	0.0088	-19	c.199 others(36): Show c.199+1214_199+1232delTAAATATATATATAATATA		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERPUD1_chr16_56927142_56949864	56943038	CCTGCCCT others(12): Show CCTGCCCTTTCCTAACATTA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	426	0.0047	-19	c.101 others(34): Show c.1012-87_1012-69delCTGCCCTTTCCTAACATTA		HERPUD1	ENSG00000051108.15	transcript	ENST00000439977.7	protein_coding	7/7						chr16	TogoVar
HERPUD2_chr7_35627659_35700135	35686811	GGGGGGGG others(12): Show GGGGGGGGGGGTGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01106.hp2 others(4): Show HG00642.hp2 HG01081.hp1 HG01106.hp2 HG01934.hp1 HG01952.hp1 HG04204.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0321 a0002c0002t0002g0326 a0002c0002t0002g0327 others(4): Show a0002c0002t0002g0321 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0335	7	390	0.0179	-19	c.147 others(36): Show c.147+7354_147+7372delACCCCCCCACCCCCCCCCC		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8						chr7	TogoVar
HES4_chr1_993964_1005097	999082	GCCCACCC others(12): Show GCCCACCCGGGCCCTGCGGC	G G	frameshift_variant frameshift_variant	HIGH	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	394	0.0025	-19	c.624 others(26): Show c.624_642delGCCGCAGGGCCCGGGTGGG	p.Gln others(5): Show p.Gln210fs	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding	4/4	766/885	624/666	208/221			chr1	TogoVar
HES4_chr1_993964_1005097	1003329	GGGGTGGA others(12): Show GGGGTGGATCCTGGGCTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01884.hp1 others(12): Show HG00642.hp1 HG01099.hp1 HG01884.hp1 HG01891.hp1 HG02155.hp2 HG02647.hp1 HG02818.hp1 HG02965.hp2 NA18974.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	15	394	0.0381	-19	c.-33 others(30): Show c.-3375_-3357delTGCAGCCCAGGATCCACCC		HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding					3233		chr1	TogoVar
HEXB_chr5_74680233_74726288	74690649	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02135.hp2 HG01109.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0249 a0001c0001t0001g0250	2	4	0.5000	-19	c.445 others(36): Show c.445+1208_445+1226delAAAAAAAAAAAAAAAAAAA		HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
HEXD_chr17_82413347_82447645	82433122	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	394	0.0025	-19	c.283 others(34): Show c.283-534_283-516delATATATTTTTTTTTTTTTT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433124	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0060 a0001c0001t0001g0064	2	389	0.0051	-19	c.283 others(34): Show c.283-528_283-510delTTTTTTTTTTTTTTTATAT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82441292	GTGGGTGA others(12): Show GTGGGTGAGGGGGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	398	0.0025	-19	c.116 others(34): Show c.1163+31_1163+49delTGAGGGGGGCAGGCATGGG		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HFM1_chr1_91255766_91409837	91404325	GTGGCACA others(12): Show GTGGCACAAGAACGGGGCGC	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	360	0.0028	-19	c.-28 others(34): Show c.-28+454_-28+472delGCGCCCCGTTCTTGTGCCA		HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	1/38						chr1	TogoVar
HFM1_chr1_91255766_91409837	91408395	AAGTTTAG others(12): Show AAGTTTAGGGAGTTAGGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	360	0.0028	-19	c.-36 others(30): Show c.-3644_-3626delGGCCCTAACTCCCTAAACT		HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding					3559		chr1	TogoVar
HGFAC_chr4_3436968_3454486	3448628	CTCTTCAA others(12): Show CTCTTCAACCTTCAATAAGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp2 HG03195.hp1 others(3): Show HG02630.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0048 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0048 a0004c0006t0001g0028	6	452	0.0133	-19	c.178 others(36): Show c.1785+371_1785+389delTTCTTCAACCTTCAATAAG		HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
HHAT_chr1_210323902_210681290	210350709	TTCTTTCT others(12): Show TTCTTTCTTTCTTTTCAATC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0119 a0002c0003t0004g0119	1	266	0.0038	-19	c.91+ others(34): Show c.91+1645_91+1663delCTTTCTTTCTTTTCAATCT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210560814	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0142 a0007c0011t0004g0142	1	52	0.0192	-19	c.104 others(40): Show c.1044-27065_1044-27047delAAAAAAAAAAAAAAAAAAA		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210673755	CTTATTTA others(12): Show CTTATTTATTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0042 a0001c0002t0006g0042	1	213	0.0047	-19	c.139 others(36): Show c.1391-523_1391-505delATTTATTTATTTATTTATT		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210677349	TTTGAGAC others(12): Show TTTGAGACCAGCCTGGGCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0225 a0001c0001t0004g0225	1	266	0.0038	-19	c.29 others(30): Show c.2971_*2989delTTGAGACCAGCCTGGGCAA		HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding					1060		chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99656873	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	369	0.0027	-19	c.903 others(34): Show c.903-125_903-107delGGAAGGAAGGAAGGAAGGA		HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL2_chr1_222517264_222553104	222552222	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0311 a0002c0005t0001g0311	1	3	0.3333	-19	c.-41 others(30): Show c.-4197_-4179delTTTTTTTTTTTTTTTTTTT		HHIPL2	ENSG00000143512.13	transcript	ENST00000343410.7	protein_coding					4119		chr1	TogoVar
HHIP_chr4_144641156_144750271	144684232	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG01891.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0032 a0002c0002t0008 a0001c0001t0032 a0002c0002t0008	a0001c0001t0032g0142 a0002c0002t0008g0134 a0001c0001t0032g0142 a0002c0002t0008g0134	2	15	0.1333	-19	c.832 others(38): Show c.832-22273_832-22255delTTTTTTTTTTTTTTTTTTT		HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr4	TogoVar

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