Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
FGF7_chr15_49418242_49493775	49489807	ATATATAT others(46): Show ATATATATATATATTTTATATATATATATATATTTTATATATATATATAT ATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02572.hp1 others(6): Show HG01884.hp1 HG02486.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp2 HG03209.hp1 HG03579.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0044 others(6): Show a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0044 a0001c0001t0009g0046 a0001c0001t0009g0047 a0001c0001t0009g0049 a0001c0001t0009g0050 a0001c0001t0009g0051 a0001c0001t0009g0052	9	358	0.0251	-53	c.53 others(64): Show c.5304_*5356delTATATATATATATTTTATATATATATATATATTT TATATATATATATATATTT		FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding					1033		chr15	TogoVar
FILIP1L_chr3_99823811_100119501	99886216	TTTATCAC others(46): Show TTTATCACTATGCTGAGTTCCTGGTGAGAGGGGAATGAGTGTAAAGCAGG GATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(128): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp1 NA18981.hp2 NA18990.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0002c0007 a0002c0008 a0003c0004 a0005c0010 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0002c0002t0002 a0002c0002t0020 a0002c0003t0006 a0002c0007t0003 a0002c0008t0002 a0003c0004t0009 a0005c0010t0014 a0006c0009t0002	a0001c0001t0001g0038 a0001c0001t0003g0021 a0001c0001t0003g0022 others(127): Show a0001c0001t0001g0038 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0202 a0001c0001t0008g0004 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0011g0028 a0001c0001t0011g0029 a0001c0001t0012g0008 a0001c0001t0013g0013 a0001c0001t0015g0198 a0001c0001t0017g0074 a0001c0001t0022g0236 a0002c0002t0002g0001 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0054 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0147 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0197 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0020g0153 a0002c0003t0006g0015 a0002c0003t0006g0016 a0002c0003t0006g0017 a0002c0003t0006g0018 a0002c0003t0006g0019 a0002c0007t0003g0231 a0002c0008t0002g0053 a0003c0004t0009g0010 a0003c0004t0009g0011 a0003c0004t0009g0012 a0005c0010t0014g0009 a0006c0009t0002g0223	131	258	0.5078	-53	c.606 others(72): Show c.606-35199_606-35147delCATCCCTGCTTTACACTCATTCCCCT CTCACCAGGAACTCAGCATAGTGATAA		FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	4/5						chr3	TogoVar
FOXL2NB_chr3_138942217_138958990	138942925	AAGCACAA others(46): Show AAGCACAAACAGACATGCACACAGCAGGCTGCTTTCTGTTCTGCAACTCC CCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	396	0.0025	-53	c.-44 others(64): Show c.-4439_-4387delAGCACAAACAGACATGCACACAGCAGGCTGCTTT CTGTTCTGCAACTCCCCTT		FOXL2NB	ENSG00000206262.9	transcript	ENST00000383165.4	protein_coding					4291		chr3	TogoVar
FREM2_chr13_38682077_38892131	38813465	TCTCTCTC others(46): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0253 a0001c0009t0008g0253	1	262	0.0038	-53	c.601 others(74): Show c.6019+28704_6019+28756delCTCTCTCCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCT		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
FREM2_chr13_38682077_38892131	38813518	CCTCTCTC others(46): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA TATA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0027 a0027	a0027c0053 a0027c0053	a0027c0053t0041 a0027c0053t0041	a0027c0053t0041g0116 a0027c0053t0041g0116	1	262	0.0038	-53	c.601 others(74): Show c.6019+28711_6019+28763delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTATATATA		FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23						chr13	TogoVar
FRMD3_chr9_83239622_83543401	83407837	GTCTCTCT others(46): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTTTCTCTCTC TCTC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02809.hp2 others(5): Show HG02055.hp2 HG02486.hp1 HG02809.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 NA18906.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0004c0007t0021	a0001c0001t0001g0103 a0001c0001t0002g0150 a0001c0001t0012g0147 others(5): Show a0001c0001t0001g0103 a0001c0001t0002g0150 a0001c0001t0012g0147 a0001c0001t0012g0186 a0001c0001t0019g0225 a0001c0001t0022g0019 a0001c0001t0024g0137 a0004c0007t0021g0013	8	242	0.0331	-53	c.148 others(72): Show c.148-18182_148-18130delGAGAGAGAGAGAAAGATGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGA		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FSHR_chr2_48957157_49159515	49127842	TTCTTCTT others(46): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTC	T T	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0345	1	350	0.0029	-53	c.152 others(72): Show c.152+26371_152+26423delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGA		FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9						chr2	TogoVar
FTCD_chr21_46131779_46160579	46144782	GAACTGCT others(46): Show GAACTGCTTGGGAGCATCCTGACCTTGTCACTGCCCTTTCCCAGGCTCTC TGGC	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0025 a0002c0016t0001g0025	1	230	0.0044	-53	c.126 others(70): Show c.1260+582_1260+634delGCCAGAGAGCCTGGGAAAGGGCAGTGAC AAGGTCAGGATGCTCCCAAGCAGTT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13						chr21	TogoVar
GABRB3_chr15_26538552_26778066	26764166	AAAAAAAA others(46): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	204	0.0049	-53	c.240 others(70): Show c.240+8183_240+8235delATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTTT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRG3_chr15_26966181_27546984	27387861	AGGAAGGA others(46): Show AGGAAGGAGGGAGGGAGGGAGGGGAAGGAGGGAAGGAAGGAAGGAGGGAA GGAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	92	0.0109	-53	c.574 others(72): Show c.574+58996_574+59048delGAAGGAGGGAAGGAAGGAAGGAGGGA AGGAGGGAAGGAGGGAGGGAGGGAGGG		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNS_chr16_88808734_88861947	88842978	CCAGCATC others(46): Show CCAGCATCGCCTGCGTGCGTGCACGATGGGGCCGCTCCACGCCAGCCCAA ACCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0016 a0005c0017t0016	a0005c0017t0016g0391 a0005c0017t0016g0391	1	404	0.0025	-53	c.121 others(68): Show c.121-202_121-150delAGGTTTGGGCTGGCGTGGAGCGGCCCCATC GTGCACGCACGCAGGCGATGCTG		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	1/13						chr16	TogoVar
GALNT9_chr12_132191372_132334589	132315232	GGAGCCTC others(46): Show GGAGCCTCAGAATATAATCAGGGCGGCCTCCCCTGTGTCCACTGCAAAGT GCTC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01978.hp1 HG02055.hp2 others(11): Show HG01175.hp2 HG01978.hp1 HG02055.hp2 HG02083.hp2 HG02135.hp2 HG02148.hp2 HG02683.hp2 HG02965.hp2 HG03492.hp1 NA18952.hp1 NA18953.hp2 NA19009.hp1 NA19085.hp1 NA19091.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0006c0037	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0006c0037t0001	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0003t0001g0006 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0006t0001g0013 a0001c0007t0001g0015 a0006c0037t0001g0010	14	183	0.0765	-53	c.238 others(72): Show c.238+13681_238+13733delGAGCACTTTGCAGTGGACACAGGGGA GGCCGCCCTGATTATATTCTGAGGCTC		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132315265	TGTGTCCA others(46): Show TGTGTCCACTGCAAAGTGCTCGAGCCTCAGAATATAATCAGGGCGGCCTC CCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp1 HG03486.hp2 others(2): Show HG01167.hp1 HG02615.hp1 HG03486.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0001c0016 a0001c0028	a0001c0001t0001 a0001c0002t0001 a0001c0014t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0014t0003 a0001c0016t0001 a0001c0028t0001	a0001c0001t0001g0143 a0001c0002t0001g0152 a0001c0014t0003g0153 others(2): Show a0001c0001t0001g0143 a0001c0002t0001g0152 a0001c0014t0003g0153 a0001c0016t0001g0054 a0001c0028t0001g0144	5	183	0.0273	-53	c.238 others(72): Show c.238+13648_238+13700delGGGGGAGGCCGCCCTGATTATATTCT GAGGCTCGAGCACTTTGCAGTGGACAC		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALR1_chr18_77244848_77282900	77246797	CCACACCT others(46): Show CCACACCTAGAACGATCTGTTGTCTGGGTTCCTGCAAGCTTACTGGTTGG TCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0299 a0001c0001t0008g0299	1	366	0.0027	-53	c.-37 others(64): Show c.-3751_-3699delCACACCTAGAACGATCTGTTGTCTGGGTTCCTGC AAGCTTACTGGTTGGTCTT		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding					3050		chr18	TogoVar
GATA5_chr20_62458497_62480995	62477256	TTCTTTCT others(46): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0264 a0001c0003t0001g0264	1	382	0.0026	-53	c.-14 others(64): Show c.-1401_-1349delGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1262		chr20	TogoVar
GDF2_chr10_47317454_47332588	47328354	TGTGTGTG others(46): Show TGTGTGTGCACACTGGGGTGAGTGATGTGTGTGCACACTGGGGTGAGTGA TGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	424	0.0024	-53	c.25 others(64): Show c.2571_*2623delGTGTGTGCACACTGGGGTGAGTGATGTGTGTGCA CACTGGGGTGAGTGATGTG		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					767		chr10	TogoVar
GDF2_chr10_47317454_47332588	47329476	GGTGTGTG others(46): Show GGTGTGTGCACCCTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAG TGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01361.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01361.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	424	0.0094	-53	c.36 others(64): Show c.3693_*3745delGTGTGTGCACCCTGGGATGAGTGATGCGGTGTGT GCACACTGGGGTGAGTGAT		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					1889		chr10	TogoVar
GFI1B_chr9_132973694_132996687	132986227	TGAGTTCT others(46): Show TGAGTTCTGGCGGCTGTCGGCACTGCCTGGCATTCTCTGGCTGATAGAAG CTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02965.hp2 others(1): Show HG02257.hp2 HG02647.hp2 HG02965.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0116 a0001c0001t0002g0162 a0001c0001t0002g0239 others(1): Show a0001c0001t0002g0116 a0001c0001t0002g0162 a0001c0001t0002g0239 a0001c0001t0007g0175	4	476	0.0084	-53	c.-20 others(68): Show c.-20-382_-20-330delCTCCGAGTTCTGGCGGCTGTCGGCACTGCC TGGCATTCTCTGGCTGATAGAAG		GFI1B	ENSG00000165702.15	transcript	ENST00000372122.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
GGT1_chr22_24598193_24633996	24605585	TATAATAT others(46): Show TATAATATTATATAATGTGTATTATATATATAATATTATATAATGTGTAT TATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03453.hp1 HG02572.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0023 a0002c0004t0008 a0002c0002t0023 a0002c0004t0008	a0002c0002t0023g0264 a0002c0004t0008g0269 a0002c0002t0023g0264 a0002c0004t0008g0269	2	426	0.0047	-53	c.-42 others(72): Show c.-429+2059_-429+2111delATAATATTATATAATGTGTATTATAT ATATAATATTATATAATGTGTATTATA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15						chr22	TogoVar
GGT1_chr22_24598193_24633996	24605641	TATAATAT others(46): Show TATAATATTATATAATGTGTATTATATATTTAATATTATATAATGTGTAT TATA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0094 a0001c0001t0017g0094	1	426	0.0024	-53	c.-42 others(72): Show c.-429+2115_-429+2167delATAATATTATATAATGTGTATTATAT ATTTAATATTATATAATGTGTATTATA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15						chr22	TogoVar
GGT5_chr22_24214660_24250082	24241757	AATTATAG others(46): Show AATTATAGAATGAAGATATTAAGATAACCATTAGAACAAAAATATAAACT TTTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0003 a0003c0030t0003	a0003c0030t0003g0371 a0003c0030t0003g0371	1	420	0.0024	-53	c.173 others(70): Show c.173+2743_173+2795delGAAAAGTTTATATTTTTGTTCTAATGGT TATCTTAATATCTTCATTCTATAAT		GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11						chr22	TogoVar
GGT6_chr17_4551927_4565577	4553090	GGGATTAC others(46): Show GGGATTACAGGCGTGAGCCACCATGCCCGGTCAAAGCTACCCTTTTAATT ATTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0027 a0012c0018t0027	a0012c0018t0027g0065 a0012c0018t0027g0065	1	458	0.0022	-53	c.48 others(64): Show c.4872_*4924delGAATAATTAAAAGGGTAGCTTTGACCGGGCATGG TGGCTCACGCCTGTAATCC		GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding					3836		chr17	TogoVar
GMPR_chr6_16233587_16300549	16266338	CGCCACCT others(46): Show CGCCACCTTTAAGAGCTGTAACACTCACTGTGAAAAAGGTGGCACGTCGG ACGT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01928.hp1 HG01934.hp2 others(19): Show HG01346.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG02040.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 NA18939.hp2 NA18945.hp1 NA18950.hp2 NA18956.hp2 NA18963.hp1 NA18982.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19062.hp2 NA19070.hp1 NA19083.hp2 NA19087.hp1 NA19091.hp2	a0000 a0001 a0000 a0001	a0000c0005 a0001c0001 a0000c0005 a0001c0001	a0000c0005t0002 a0001c0001t0001 a0000c0005t0002 a0001c0001t0001	a0000c0005t0002g0153 a0001c0001t0001g0003 a0001c0001t0001g0012 others(15): Show a0000c0005t0002g0153 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0278 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0324 a0001c0001t0001g0326	22	344	0.0640	-53	c.466 others(70): Show c.466-7999_466-7947delCACTGTGAAAAAGGTGGCACGTCGGACG TGCCACCTTTAAGAGCTGTAACACT		GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GOLGA1_chr9_124873275_124946083	124933422	TTATTTAT others(46): Show TTATTTATTTATTTATTTAGACAGAGTCTCGCTCTGTCACCCAGGCTGGA GTGC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0333 a0001c0005t0005g0333	1	374	0.0027	-53	c.136 others(70): Show c.136-2069_136-2017delGCACTCCAGCCTGGGTGACAGAGCGAGA CTCTGTCTAAATAAATAAATAAATA		GOLGA1	ENSG00000136935.14	transcript	ENST00000373555.9	protein_coding	3/22						chr9	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136613	GGGAGGTG others(46): Show GGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATG GGTA	G G	frameshift_variant frameshift_variant	HIGH	NA19088.hp1 NA19088.hp1	a0069 a0069	a0069c0059 a0069c0059	a0069c0059t0001 a0069c0059t0001	a0069c0059t0001g0102 a0069c0059t0001g0102	1	204	0.0049	-53	c.66_ others(59): Show c.66_118delTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTAC CCATCCCCACCTCC	p.Thr others(4): Show p.Thr23fs	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	209/3822	66/2007	22/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136631	GGGAGGTG others(46): Show GGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATG GGTA	G G	frameshift_variant frameshift_variant	HIGH	NA19077.hp1 NA19077.hp1	a0032 a0032	a0032c0070 a0032c0070	a0032c0070t0025 a0032c0070t0025	a0032c0070t0025g0136 a0032c0070t0025g0136	1	204	0.0049	-53	c.48_ others(59): Show c.48_100delTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTAC CCATCCCCACCTCC	p.Thr others(4): Show p.Thr17fs	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	191/3822	48/2007	16/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136652	AGGTGGGG others(46): Show AGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGT AGGG	A A	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0034 a0034	a0034c0071 a0034c0071	a0034c0071t0001 a0034c0071t0001	a0034c0071t0001g0133 a0034c0071t0001g0133	1	204	0.0049	-53	c.27_ others(58): Show c.27_79delCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCT ACCCATCCCCACC	p.Thr others(4): Show p.Thr11fs	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	170/3822	27/2007	9/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136656	GGGGATGG others(46): Show GGGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGG AGGT	G G	frameshift_variant frameshift_variant	HIGH	NA18612.hp2 NA18612.hp2	a0035 a0035	a0035c0072 a0035c0072	a0035c0072t0016 a0035c0072t0016	a0035c0072t0016g0031 a0035c0072t0016g0031	1	204	0.0049	-53	c.23_ others(58): Show c.23_75delACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCT CCCTACCCATCCC	p.His others(3): Show p.His8fs	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	166/3822	23/2007	8/668			chr15	TogoVar
GOLM2_chr15_44283719_44420758	44288506	GAGAGCGA others(46): Show GAGAGCGAGAGAGCGAGAGAGCGAGAGAGCGAGAGAGAGAGAGAGAGAGA GAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG03927.hp1 NA20129.hp2 HG02965.hp2 HG03927.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0091 a0001c0001t0005g0119 a0001c0001t0007g0121 a0001c0001t0001g0091 a0001c0001t0005g0119 a0001c0001t0007g0121	3	150	0.0200	-53	c.-52 others(62): Show c.-523_-471delAGAGCGAGAGAGCGAGAGAGCGAGAGAGCGAGAGAG AGAGAGAGAGAGAGAGA		GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding					212		chr15	TogoVar
GPI_chr19_34360196_34407413	34386255	GGTGTGGT others(46): Show GGTGTGGTCTGAGAACCCAGGTTCAAGCACAGGTAGGTAGAGATAGCCTT TCAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02055.hp2 HG03225.hp1 others(1): Show HG00733.hp1 HG02055.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0001t0031 a0001c0003t0010 a0001c0001t0011 a0001c0001t0031 a0001c0003t0010	a0001c0001t0011g0217 a0001c0001t0011g0218 a0001c0001t0031g0215 others(1): Show a0001c0001t0011g0217 a0001c0001t0011g0218 a0001c0001t0031g0215 a0001c0003t0010g0138	4	314	0.0127	-53	c.804 others(70): Show c.804+4789_804+4841delCGTGTGGTCTGAGAACCCAGGTTCAAGC ACAGGTAGGTAGAGATAGCCTTTCA		GPI	ENSG00000105220.17	transcript	ENST00000356487.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
GPR39_chr2_132411805_132651582	132463321	GTATTACA others(46): Show GTATTACAGGGGTGGTGTGAGGTCTTTGGAGGGCAACAACCTCTGTTCTC TTGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19043.hp1 HG02055.hp2 NA19043.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0011 a0002c0002 a0008c0011	a0002c0002t0001 a0008c0011t0001 a0002c0002t0001 a0008c0011t0001	a0002c0002t0001g0042 a0008c0011t0001g0041 a0002c0002t0001g0042 a0008c0011t0001g0041	2	208	0.0096	-53	c.856 others(72): Show c.856+45425_856+45477delATTACAGGGGTGGTGTGAGGTCTTTG GAGGGCAACAACCTCTGTTCTCTTGCT		GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPRC5D_chr12_12935575_12957170	12944747	TCCTTCCT others(46): Show TCCTTCCTTCCTTTCTTCCTTCCTTTCTTCCTTCCTTCCTTCCTTCCTTC CTTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	406	0.0025	-53	c.896 others(70): Show c.896-2472_896-2420delGAAGGAAGGAAGGAAGGAAGGAAGGAAG AAAGGAAGGAAGAAAGGAAGGAAGG		GPRC5D	ENSG00000111291.9	transcript	ENST00000228887.6	protein_coding	2/3						chr12	TogoVar
GPSM2_chr1_108871985_108939545	108873396	ATATATAT others(46): Show ATATATATATATATATATACGTATATATATATACATATATATATATACGT ATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0037 a0002c0002t0019g0037	1	260	0.0039	-53	c.-40 others(64): Show c.-4080_-4028delTATATATATATATATATACGTATATATATATACA TATATATATATACGTATTT		GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding					3588		chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46630849	GGTGTGCC others(46): Show GGTGTGCCCTCCATAGCCCCCCGAGGGCCGTGTGCCCTCACCCCGGCCTC CGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(100): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19059.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0005t0002 a0001c0006t0042 a0001c0009t0062	a0001c0001t0001g0115 a0001c0001t0001g0151 a0001c0001t0001g0152 others(99): Show a0001c0001t0001g0115 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0007 a0001c0001t0002g0081 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0249 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0003g0283 a0001c0001t0004g0295 a0001c0001t0005g0258 a0001c0001t0006g0076 a0001c0001t0006g0102 a0001c0001t0006g0170 a0001c0001t0006g0174 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0202 a0001c0001t0006g0302 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0015 a0001c0001t0017g0045 a0001c0001t0025g0256 a0001c0001t0025g0265 a0001c0001t0026g0082 a0001c0001t0026g0292 a0001c0001t0034g0201 a0001c0001t0035g0263 a0001c0001t0036g0173 a0001c0001t0043g0311 a0001c0001t0044g0316 a0001c0001t0054g0251 a0001c0001t0056g0313 a0001c0001t0057g0304 a0001c0001t0058g0277 a0001c0001t0059g0284 a0001c0001t0060g0280 a0001c0001t0061g0289 a0001c0001t0064g0306 a0001c0005t0002g0294 a0001c0006t0042g0318 a0001c0009t0062g0303	103	328	0.3140	-53	c.162 others(70): Show c.162+3905_162+3957delCCCCCGAGGGCCGTGTGCCCTCACCCCG GCCTCCGCAGTGTGCCCTCCATAGC		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GSAP_chr7_77305751_77421349	77421193	CCTTTCCT others(46): Show CCTTTCCTCCTTTTCCTTCCTACTTTTCACGCTTTATTCCTTCCCCTTCC ACTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0324 a0002c0007t0001g0324	1	352	0.0028	-53	c.-49 others(64): Show c.-4925_-4873delAAGTGGAAGGGGAAGGAATAAAGCGTGAAAAGTA GGAAGGAAAAGGAGGAAAG		GSAP	ENSG00000186088.16	transcript	ENST00000257626.12	protein_coding					4845		chr7	TogoVar
GTDC1_chr2_143933068_144337512	144182800	ATATATAT others(46): Show ATATATATAATATATATATTATATATATAATATATATATATTATATATAT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01243.hp2 others(34): Show HG00140.hp2 HG00438.hp1 HG01243.hp2 HG01358.hp1 HG01975.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18960.hp1 NA18980.hp2 NA18986.hp2 NA19003.hp2 NA19043.hp1 NA19066.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0003t0003 a0001c0003t0018 a0001c0003t0036 a0001c0003t0046 a0002c0005t0001 a0004c0006t0001 a0004c0006t0026	a0001c0001t0001g0097 a0001c0001t0002g0010 a0001c0001t0002g0021 others(34): Show a0001c0001t0001g0097 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0002g0073 a0001c0001t0002g0094 a0001c0001t0002g0113 a0001c0001t0004g0015 a0001c0001t0004g0020 a0001c0001t0004g0055 a0001c0001t0005g0090 a0001c0001t0007g0093 a0001c0001t0008g0056 a0001c0001t0009g0098 a0001c0001t0012g0092 a0001c0001t0012g0111 a0001c0001t0013g0096 a0001c0001t0016g0009 a0001c0001t0017g0018 a0001c0001t0019g0099 a0001c0001t0023g0042 a0001c0001t0024g0123 a0001c0001t0028g0034 a0001c0001t0033g0019 a0001c0001t0038g0079 a0001c0001t0039g0046 a0001c0001t0044g0095 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0018g0084 a0001c0003t0036g0106 a0001c0003t0046g0109 a0002c0005t0001g0029 a0004c0006t0001g0082 a0004c0006t0026g0081	37	124	0.2984	-53	c.179 others(72): Show c.179+25750_179+25802delAAATATATATATAATATATATATATT ATATATATAATATATATATTATATATA		GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11						chr2	TogoVar
GTPBP6_chrX_299759_323796	306222	GCAGATTA others(46): Show GCAGATTAGGCACCTGTTGTATGCAGTCAGAAATGTACATTTTGACTGTC AGCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp2 HG02451.hp1 others(1): Show HG00741.hp2 HG02109.hp2 HG02451.hp1 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0003g0028 others(1): Show a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0003g0028 a0001c0003t0003g0145	4	155	0.0258	-53	c.142 others(72): Show c.1428-1078_1428-1026delTGCTGACAGTCAAAATGTACATTTCT GACTGCATACAACAGGTGCCTAATCTG		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	9/9						chrX	TogoVar
GUCY2C_chr12_14607632_14701599	14696993	GTGTATAT others(46): Show GTGTATATATATATATATATATATATATATATAAAGTGTATATATATATA TATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG03579.hp2 HG00733.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0125 a0001c0002t0001g0129	2	236	0.0085	-53	c.-59 others(62): Show c.-598_-546delTATATATATATATATACACTTTATATATATATATAT ATATATATATATATACA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					395		chr12	TogoVar
HBP1_chr7_107164003_107207522	107198067	TGCATTCT others(46): Show TGCATTCTGTATTTATTTCCAATTCTGGGGAACTGGACTATCCTGATTAT AAGG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	368	0.0027	-53	c.138 others(72): Show c.1385+1918_1385+1970delCATTCTGTATTTATTTCCAATTCTGG GGAACTGGACTATCCTGATTATAAGGG		HBP1	ENSG00000105856.14	transcript	ENST00000222574.9	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
HCN1_chr5_45249948_45701380	45372062	ATATTATA others(46): Show ATATTATATATTATATATAATATAATTATATATATATTTTATATATAATA TAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp2 others(6): Show HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp2 HG02897.hp1 HG03540.hp2 NA18992.hp2 NA19003.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0013 a0001c0001t0023 others(4): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0032 a0002c0002t0014	a0001c0001t0006g0057 a0001c0001t0013g0078 a0001c0001t0013g0079 others(6): Show a0001c0001t0006g0057 a0001c0001t0013g0078 a0001c0001t0013g0079 a0001c0001t0023g0075 a0001c0001t0024g0007 a0001c0001t0031g0009 a0001c0001t0032g0010 a0002c0002t0014g0222 a0002c0002t0014g0223	9	226	0.0398	-53	c.123 others(74): Show c.1231-18869_1231-18817delATTATATTATATATAAAATATATA TATAATTATATTATATATAATATATAATA		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HDAC4_chr2_239043168_239406020	239124736	TGCGTTAT others(46): Show TGCGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTGGCGTGT GGCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	242	0.0041	-53	c.153 others(72): Show c.1533+1667_1533+1719delGGCCACACGCCAGCACACCAGAATGT CACATAACATGGAATGTCATATAACGC		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239232874	CCAAGCCA others(46): Show CCAAGCCAAGGGTGGCCCTTCCCTCACCAAGCCAAGGGTGGCCCTTCCCC TCAG	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0055 a0001c0001t0046g0055	1	242	0.0041	-53	c.94+ others(68): Show c.94+3666_94+3718delCTGAGGGGAAGGGCCACCCTTGGCTTGGTG AGGGAAGGGCCACCCTTGGCTTG		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26						chr2	TogoVar
HES6_chr2_238233267_238245038	238235433	GGGGCGGC others(46): Show GGGGCGGCAGGGAAGGCTGAGGACAGAGCCTTGGGAAGAACACGTCCAGT TGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-53	c.33 others(64): Show c.3341_*3393delTCCAACTGGACGTGTTCTTCCCAAGGCTCTGTCC TCAGCCTTCCCTGCCGCCC		HES6	ENSG00000144485.11	transcript	ENST00000272937.10	protein_coding					2833		chr2	TogoVar
HGFAC_chr4_3436968_3454486	3440721	CCCCCAGG others(46): Show CCCCCAGGGCCCACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCAC CGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01884.hp2 others(28): Show HG01167.hp2 HG01243.hp2 HG01884.hp2 HG01975.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA19004.hp1 NA19007.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0014 a0015 a0020 a0025	a0001c0001 a0001c0005 a0001c0006 others(10): Show a0001c0001 a0001c0005 a0001c0006 a0001c0017 a0003c0003 a0003c0007 a0003c0020 a0003c0045 a0005c0008 a0014c0058 a0015c0059 a0020c0048 a0025c0041	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(10): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0017t0001 a0003c0003t0001 a0003c0007t0001 a0003c0020t0001 a0003c0045t0001 a0005c0008t0001 a0014c0058t0001 a0015c0059t0001 a0020c0048t0001 a0025c0041t0001	a0001c0001t0001g0025 a0001c0001t0001g0096 a0001c0005t0001g0075 others(17): Show a0001c0001t0001g0025 a0001c0001t0001g0096 a0001c0005t0001g0075 a0001c0006t0001g0014 a0001c0017t0001g0001 a0003c0003t0001g0005 a0003c0003t0001g0017 a0003c0003t0001g0030 a0003c0003t0001g0037 a0003c0003t0001g0087 a0003c0007t0001g0017 a0003c0007t0001g0018 a0003c0007t0001g0095 a0003c0020t0001g0090 a0003c0045t0001g0094 a0005c0008t0001g0021 a0014c0058t0001g0005 a0015c0059t0001g0100 a0020c0048t0001g0091 a0025c0041t0001g0014	31	454	0.0683	-53	c.-12 others(64): Show c.-1280_-1228delCCCCAGGGCCCACCATGACCTCCCCCCCAACCCC CAACCCCCCATTCACCGTG		HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding					1246		chr4	TogoVar
HIVEP1_chr6_12007312_12169999	12168011	TGTACATG others(46): Show TGTACATGTATATATGTATATATTATATATACATATACATATGTGTATAT ATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03579.hp2 HG06807.hp2 HG02922.hp1 HG03579.hp2 HG06807.hp2	a0013 a0031 a0013 a0031	a0013c0017 a0031c0027 a0013c0017 a0031c0027	a0013c0017t0001 a0031c0027t0001 a0013c0017t0001 a0031c0027t0001	a0013c0017t0001g0256 a0013c0017t0001g0258 a0031c0027t0001g0203 a0013c0017t0001g0256 a0013c0017t0001g0258 a0031c0027t0001g0203	3	344	0.0087	-53	c.35 others(64): Show c.3551_*3603delGTACATGTATATATGTATATATTATATATACATA TACATATGTGTATATATAC		HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding					3013		chr6	TogoVar
HLA-C_chr6_31263749_31277092	31274309	CTCACCTC others(46): Show CTCACCTCCTGCTTCCCCAGCCCTTCTCTCTGCCCCTTATCCCTCAGACC TTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0008 a0007c0007t0003g0008	1	449	0.0022	-53	c.-22 others(64): Show c.-2291_-2239delAGAAGGTCTGAGGGATAAGGGGCAGAGAGAAGGG CTGGGGAAGCAGGAGGTGA		HLA-C	ENSG00000204525.18	transcript	ENST00000376228.10	protein_coding					2218		chr6	TogoVar
HMOX1_chr22_35376096_35399207	35389288	TCTTCTTT others(46): Show TCTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTT CTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	384	0.0026	-53	c.637 others(68): Show c.637-575_637-523delCTTCTTTCTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTTTCTTTCTTTCTTC		HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4						chr22	TogoVar
HOXC10_chr12_53980146_53995279	53990294	TTTTTAGT others(46): Show TTTTTAGTGATTTTTAGCAACACCCCTCCCCCGAAGAGGCTGAGTGTGTG GATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	372	0.0027	-53	c.84 others(62): Show c.849_*901delTTTTAGTGATTTTTAGCAACACCCCTCCCCCGAAGA GGCTGAGTGTGTGGATG		HOXC10	ENSG00000180818.5	transcript	ENST00000303460.5	protein_coding					16		chr12	TogoVar
HOXD3_chr2_176152307_176178098	176165979	AACTATAT others(46): Show AACTATATTCTCAGGTTTTGTTTTAAGAGGGATCACTTTTGGGAAACTGC ATTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	332	0.0030	-53	c.-85 others(70): Show c.-85+1812_-85+1864delACTATATTCTCAGGTTTTGTTTTAAGAG GGATCACTTTTGGGAAACTGCATTT		HOXD3	ENSG00000128652.12	transcript	ENST00000683222.1	protein_coding	2/3						chr2	TogoVar
HSD17B6_chr12_56758324_56792790	56789467	TCCTCCCT others(46): Show TCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGGCTGACCCCC CCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	360	0.0028	-53	c.21 others(64): Show c.2126_*2178delCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGGGCTGACCCCCCCCA		HSD17B6	ENSG00000025423.11	transcript	ENST00000322165.1	protein_coding					1678		chr12	TogoVar

Search by Variant

Search

Search Results