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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NXN_chr17_794310_984776	948894	T T	TCCCCGCG others(13): Show TCCCCGCGGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	242	0.0041	20	c.360 others(39): Show c.360+30424_360+30425insGAGAGGAGGAGGCCGCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948951	T T	TCCCCGTG others(13): Show TCCCCGTGGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	242	0.0041	20	c.360 others(39): Show c.360+30367_360+30368insGAGAGGAGGAGGCCACGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949046	T T	TCCCCGCG others(13): Show TCCCCGCGGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0235 a0001c0004t0001g0235	1	242	0.0041	20	c.360 others(39): Show c.360+30272_360+30273insGAGAGGAGGAGGCCGCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949085	C C	CCCCTGCT others(13): Show CCCCTGCTCTCCTCCTCTCCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0052 a0001c0001t0023g0052	1	242	0.0041	20	c.360 others(39): Show c.360+30233_360+30234insAGGAGAGGAGGAGAGCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949254	T T	TCCCCCCT others(13): Show TCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	242	0.0041	20	c.360 others(39): Show c.360+30064_360+30065insGAGAGGAGGAGGCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949563	G G	GCGGCCTC others(13): Show GCGGCCTCCTCCTCTCCCCCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	242	0.0041	20	c.360 others(39): Show c.360+29755_360+29756insGGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949601	C C	CCCTGCCT others(13): Show CCCTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	242	0.0041	20	c.360 others(39): Show c.360+29717_360+29718insCGGGGAGAGGAGGAGGCAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	963208	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	242	0.0041	20	c.360 others(39): Show c.360+16110_360+16111insGTGTGTGTGTGTGTGTGTGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(13): Show TATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02809.hp2 HG02055.hp2 HG02451.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0047 a0001c0001t0001g0171 a0001c0001t0007g0073 a0001c0001t0001g0047 a0001c0001t0001g0171 a0001c0001t0007g0073	3	242	0.0124	20	c.-39 others(31): Show c.-3934_-3933insGTGTGTGTGTGTATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(13): Show TATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp2 NA19011.hp1 HG02630.hp1 HG02630.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0069	3	242	0.0124	20	c.-39 others(31): Show c.-3934_-3933insGTGTGTGTGTATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXPE2_chr11_114673527_114712069	114695830	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03239.hp2 HG04204.hp1 others(2): Show HG01175.hp1 HG03239.hp2 HG04204.hp1 NA19012.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0076 a0001c0001t0001g0153 a0002c0002t0001g0049 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0153 a0002c0002t0001g0049 a0002c0002t0001g0217	5	428	0.0117	20	c.133 others(37): Show c.133-2197_133-2178dupCACACACACACACACACACA	NXPE2	ENSG00000204361.10	transcript	ENST00000389586.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXPE3_chr3_101774211_101833231	101808818	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0055 a0004c0005t0055	a0004c0005t0055g0026 a0004c0005t0055g0026	1	380	0.0026	20	c.922 others(37): Show c.922+1711_922+1730dupATATATATATATATATATAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATATACA others(13): Show TATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0275 a0001c0001t0010g0277 a0001c0001t0010g0275 a0001c0001t0010g0277	2	380	0.0053	20	c.922 others(37): Show c.922+1730_922+1731insATACACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATATATA others(13): Show TATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01261.hp1 others(20): Show HG01070.hp1 HG01106.hp1 HG01261.hp1 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp2 HG02451.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02886.hp2 HG03209.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp1 NA18945.hp2 NA18956.hp1 NA19009.hp2 NA19077.hp2 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0010	a0001c0001t0002 a0001c0001t0021 a0001c0001t0045 others(6): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0045 a0001c0001t0047 a0001c0001t0061 a0001c0002t0002 a0001c0002t0053 a0002c0003t0012 a0005c0010t0002	a0001c0001t0002g0230 a0001c0001t0002g0242 a0001c0001t0002g0303 others(20): Show a0001c0001t0002g0230 a0001c0001t0002g0242 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0310 a0001c0001t0002g0315 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0021g0243 a0001c0001t0045g0314 a0001c0001t0047g0342 a0001c0001t0061g0313 a0001c0002t0002g0354 a0001c0002t0053g0320 a0002c0003t0012g0213 a0005c0010t0002g0302	23	380	0.0605	20	c.922 others(37): Show c.922+1730_922+1731insATATACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPH1_chr7_8428609_8757961	8483965	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0182 a0001c0001t0019g0127 a0001c0001t0001g0182 a0001c0001t0019g0127	2	208	0.0096	20	c.54+ others(37): Show c.54+48215_54+48216insTTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8621490	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	208	0.0048	20	c.55- others(39): Show c.55-129504_55-129503insTTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8678928	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02148.hp2 HG02647.hp1 others(2): Show HG01106.hp2 HG02148.hp2 HG02647.hp1 HG03831.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0021 a0001c0001t0001 a0001c0001t0003 a0001c0003t0021	a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0128 a0001c0001t0003g0011 a0001c0003t0021g0081	5	208	0.0240	20	c.55- others(37): Show c.55-72064_55-72045dupTTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8720131	G G	GCTTCCAG others(13): Show GCTTCCAGGATTGAAACCTGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(154): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18985.hp1 NA18989.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(154): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0114 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0003g0011 a0001c0001t0003g0049 a0001c0001t0003g0053 a0001c0001t0003g0060 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0111 a0001c0001t0003g0133 a0001c0001t0003g0143 a0001c0001t0003g0148 a0001c0001t0004g0063 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0157 a0001c0001t0004g0187 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0072 a0001c0001t0005g0108 a0001c0001t0005g0132 a0001c0001t0005g0142 a0001c0001t0005g0147 a0001c0001t0005g0162 a0001c0001t0005g0164 a0001c0001t0006g0116 a0001c0001t0006g0170 a0001c0001t0007g0001 a0001c0001t0007g0184 a0001c0001t0007g0193 a0001c0001t0008g0070 a0001c0001t0008g0188 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0012g0065 a0001c0001t0014g0109 a0001c0001t0015g0201 a0001c0001t0016g0099 a0001c0001t0018g0172 a0001c0001t0019g0127 a0001c0001t0020g0117 a0001c0002t0001g0195	157	208	0.7548	20	c.55- others(37): Show c.55-30877_55-30876insCTTCCAGGATTGAAACCTGA	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2			chr7	TogoVar
NXPH1_chr7_8428609_8757961	8756316	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	208	0.0048	20	c.45 others(31): Show c.4547_*4548insTTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding		3356		chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02165.hp1 others(5): Show HG01515.hp1 HG01517.hp2 HG02165.hp1 HG02165.hp2 HG03017.hp2 NA18941.hp2 NA19085.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0121 a0001c0002t0001g0011 a0001c0002t0001g0012 others(5): Show a0001c0001t0001g0121 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0090 a0001c0002t0001g0112 a0001c0002t0001g0163 a0001c0002t0001g0196 a0001c0002t0001g0261	8	350	0.0229	20	c.52- others(37): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225446246	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0060 a0002c0005t0006g0060	1	192	0.0052	20	c.221 others(39): Show c.221+37146_221+37147insCTCTCTCTCTCTATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01361.hp1 HG02630.hp1 others(2): Show HG00280.hp1 HG01361.hp1 HG02630.hp1 NA18977.hp2 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0008 a0001c0002t0035 others(2): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0035 a0001c0002t0037 a0001c0004t0002	a0001c0002t0001g0035 a0001c0002t0008g0012 a0001c0002t0035g0085 others(2): Show a0001c0002t0001g0035 a0001c0002t0008g0012 a0001c0002t0035g0085 a0001c0002t0037g0030 a0001c0004t0002g0155	5	192	0.0260	20	c.161 others(39): Show c.1618+6488_1618+6507dupATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG00639.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0004 a0001c0001t0041 a0001c0002t0004	a0001c0001t0041g0101 a0001c0002t0004g0042 a0001c0001t0041g0101 a0001c0002t0004g0042	2	192	0.0104	20	c.161 others(41): Show c.1618+14495_1618+14496insATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225655907	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19043.hp2 HG01243.hp1 NA19043.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0016 a0003c0011t0016	a0003c0011t0016g0167 a0003c0011t0016g0168 a0003c0011t0016g0167 a0003c0011t0016g0168	2	192	0.0104	20	c.193 others(39): Show c.1932+4391_1932+4392insTACACACACACACACACACA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYNRIN_chr14_24394003_24424283	24406201	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG02486.hp1 others(13): Show HG00099.hp1 HG00280.hp1 HG02486.hp1 HG02523.hp2 HG03017.hp2 HG03139.hp1 HG03654.hp1 HG03688.hp1 HG04115.hp1 NA18949.hp1 NA18959.hp2 NA18976.hp1 NA18988.hp2 NA19084.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0002c0015 others(1): Show a0001c0005 a0002c0002 a0002c0015 a0003c0003	a0001c0005t0001 a0001c0005t0009 a0002c0002t0001 others(6): Show a0001c0005t0001 a0001c0005t0009 a0002c0002t0001 a0002c0002t0009 a0002c0002t0014 a0002c0002t0020 a0002c0002t0031 a0002c0015t0021 a0003c0003t0003	a0001c0005t0001g0197 a0001c0005t0001g0212 a0001c0005t0009g0133 others(12): Show a0001c0005t0001g0197 a0001c0005t0001g0212 a0001c0005t0009g0133 a0002c0002t0001g0031 a0002c0002t0001g0138 a0002c0002t0001g0175 a0002c0002t0009g0151 a0002c0002t0009g0152 a0002c0002t0014g0094 a0002c0002t0014g0136 a0002c0002t0020g0153 a0002c0002t0031g0137 a0002c0015t0021g0198 a0003c0003t0003g0095 a0003c0003t0003g0149	16	450	0.0356	20	c.199 others(37): Show c.199-1636_199-1617dupAAATAAAATAAAATAAAATA	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
NYX_chrX_41442343_41480652	41464670	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	310	0.0032	20	c.23- others(35): Show c.23-8814_23-8795dupGTGTGTGTGTGTGTGTGTGT	NYX	ENSG00000188937.7	transcript	ENST00000378220.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
NYX_chrX_41442343_41480652	41475420	A A	AGAGATTT others(13): Show AGAGATTTAAGACAAAGGGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0259 a0001c0001t0013g0259	1	310	0.0032	20	c.52 others(29): Show c.523_*542dupAGATTTAAGACAAAGGGTGG	NYX	ENSG00000188937.7	transcript	ENST00000378220.3	protein_coding	3/3	543	INFO_REALIGN_3_PRIME	chrX	TogoVar
OAF_chr11_120206032_120235334	120209246	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	400	0.0025	20	c.-20 others(31): Show c.-2034_-2033insTTTTGTTTTGTTTTGTTTTG	OAF	ENSG00000184232.9	transcript	ENST00000328965.9	protein_coding		1785		chr11	TogoVar
OAS3_chr12_112933474_112978251	112934494	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG02074.hp2 others(5): Show HG00438.hp1 HG00738.hp1 HG02074.hp2 HG02132.hp2 NA18944.hp1 NA18948.hp2 NA18960.hp1 NA19080.hp2	a0002 a0002	a0002c0004 a0002c0008 a0002c0004 a0002c0008	a0002c0004t0003 a0002c0004t0035 a0002c0008t0009 others(1): Show a0002c0004t0003 a0002c0004t0035 a0002c0008t0009 a0002c0008t0021	a0002c0004t0003g0006 a0002c0004t0003g0008 a0002c0004t0003g0012 others(4): Show a0002c0004t0003g0006 a0002c0004t0003g0008 a0002c0004t0003g0012 a0002c0004t0035g0012 a0002c0008t0009g0013 a0002c0008t0009g0204 a0002c0008t0021g0043	8	370	0.0216	20	c.-40 others(31): Show c.-4037_-4036insGAAAGAAAGAAAGAAAGAAA	OAS3	ENSG00000111331.14	transcript	ENST00000228928.12	protein_coding		3979		chr12	TogoVar
OAT_chr10_124392303_124423923	124402048	G G	GTTATTTA others(13): Show GTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02280.hp2 others(4): Show HG01891.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02717.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0169 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175	7	382	0.0183	20	c.901 others(35): Show c.901-229_901-210dupATAAATAAATAAATAAATAA	OAT	ENSG00000065154.12	transcript	ENST00000368845.6	protein_coding	7/9			chr10	TogoVar
OBSCN_chr1_228203044_228383876	228331407	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02074.hp1 NA18994.hp2 HG01346.hp2 HG02074.hp1 NA18994.hp2	a0007 a0037 a0121 a0007 a0037 a0121	a0007c0031 a0037c0115 a0121c0095 a0007c0031 a0037c0115 a0121c0095	a0007c0031t0001 a0037c0115t0001 a0121c0095t0001 a0007c0031t0001 a0037c0115t0001 a0121c0095t0001	a0007c0031t0001g0269 a0037c0115t0001g0200 a0121c0095t0001g0256 a0007c0031t0001g0269 a0037c0115t0001g0200 a0121c0095t0001g0256	3	320	0.0094	20	c.185 others(41): Show c.18524-1423_18524-1404dupTATATATATATATATATATA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	67/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OBSCN_chr1_228203044_228383876	228339041	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0024 a0024	a0024c0154 a0024c0154	a0024c0154t0001 a0024c0154t0001	a0024c0154t0001g0016 a0024c0154t0001g0016	1	320	0.0031	20	c.201 others(37): Show c.20129+31_20129+50dupACACACACACACACACACAC	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	80/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0077 a0002c0003t0001g0077	1	408	0.0025	20	c.113 others(37): Show c.1138+509_1138+510insCCTTTCTTTCTTTCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG03710.hp2 HG02723.hp2 HG03471.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0076 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0076 a0002c0003t0001g0082 a0002c0003t0001g0083	3	408	0.0074	20	c.113 others(37): Show c.1138+509_1138+510insCCTTCCTTTCTTTCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0086 a0002c0003t0001g0086	1	408	0.0025	20	c.113 others(37): Show c.1138+509_1138+510insCCTTCCTTCCTTTCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGAAAG others(13): Show AAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18948.hp2 NA18974.hp1 others(1): Show NA18943.hp1 NA18948.hp2 NA18974.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0012	4	408	0.0098	20	c.113 others(37): Show c.1138+509_1138+510insCCTTCCTTCCTTCCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OC90_chr8_132019216_132064382	132028563	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19030.hp1 HG00673.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0095 a0002c0003t0001g0113 a0002c0003t0001g0095 a0002c0003t0001g0113	2	408	0.0049	20	c.113 others(37): Show c.1138+490_1138+509dupCCTTCCTTCCTTCCTTCCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0024 a0001c0007t0001g0024	1	110	0.0091	20	c.243 others(41): Show c.2432+20356_2432+20357insTATATATATAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03098.hp1 HG01943.hp1 HG03098.hp1	a0001 a0001	a0001c0035 a0001c0046 a0001c0035 a0001c0046	a0001c0035t0001 a0001c0046t0001 a0001c0035t0001 a0001c0046t0001	a0001c0035t0001g0011 a0001c0046t0001g0088 a0001c0035t0001g0011 a0001c0046t0001g0088	2	110	0.0182	20	c.243 others(41): Show c.2432+20356_2432+20357insTATATATAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27829301	A A	ATAGATAG others(13): Show ATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01256.hp1 HG01258.hp1 others(15): Show HG01069.hp2 HG01256.hp1 HG01258.hp1 HG01993.hp1 HG02055.hp1 HG02257.hp1 HG02647.hp1 HG02738.hp1 HG02809.hp1 HG03130.hp1 HG03139.hp1 HG03492.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18946.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0045 a0002c0009 a0002c0015 a0003c0012 a0004c0017 a0013c0029	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0045t0001 a0002c0009t0001 a0002c0015t0001 a0003c0012t0001 a0004c0017t0001 a0013c0029t0001	a0001c0001t0001g0005 a0001c0001t0005g0108 a0001c0003t0001g0072 others(15): Show a0001c0001t0001g0005 a0001c0001t0005g0108 a0001c0003t0001g0072 a0001c0003t0001g0087 a0001c0004t0001g0013 a0001c0005t0001g0091 a0001c0005t0001g0100 a0001c0005t0001g0105 a0001c0005t0001g0110 a0001c0007t0001g0034 a0001c0010t0001g0033 a0001c0045t0001g0089 a0002c0009t0001g0042 a0002c0009t0001g0043 a0002c0015t0001g0044 a0003c0012t0001g0028 a0004c0017t0001g0109 a0013c0029t0001g0019	18	110	0.1636	20	c.243 others(41): Show c.2432+15657_2432+15658insACTATCTATCTATCTATCTA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCIAD2_chr4_48880019_48911774	48910325	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	364	0.0028	20	c.-37 others(31): Show c.-3731_-3730insAAGGGAGGGAGGGAGGGAGG	OCIAD2	ENSG00000145247.12	transcript	ENST00000508632.6	protein_coding		3552		chr4	TogoVar
OCIAD2_chr4_48880019_48911774	48910325	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG01258.hp1 others(1): Show HG00738.hp1 HG01257.hp1 HG01258.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0028 a0001c0001t0003g0084 a0001c0001t0003g0007 a0001c0001t0003g0028 a0001c0001t0003g0084	4	364	0.0110	20	c.-37 others(31): Show c.-3731_-3730insAAGGAAGGGAGGGAGGGAGG	OCIAD2	ENSG00000145247.12	transcript	ENST00000508632.6	protein_coding		3552		chr4	TogoVar
OCIAD2_chr4_48880019_48911774	48910325	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA18944.hp2 NA19010.hp2 HG00609.hp2 NA18944.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0098 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0098	3	364	0.0082	20	c.-37 others(31): Show c.-3731_-3730insAAGGAAGGAAGGAAGGAAGG	OCIAD2	ENSG00000145247.12	transcript	ENST00000508632.6	protein_coding		3552		chr4	TogoVar
OCLN_chr5_69487790_69563104	69526554	C C	CCAGAGCT others(13): Show CCAGAGCTCTAATAACTTATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(119): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0037 a0001c0001t0038 a0007c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(114): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0267 a0001c0001t0002g0008 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0144 a0001c0001t0003g0136 a0001c0001t0004g0009 a0001c0001t0004g0100 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0120 a0001c0001t0004g0165 a0001c0001t0004g0183 a0001c0001t0010g0146 a0001c0001t0010g0155 a0001c0001t0011g0121 a0001c0001t0011g0179 a0001c0001t0011g0180 a0001c0001t0011g0181 a0001c0001t0012g0148 a0001c0001t0012g0151 a0001c0001t0013g0164 a0001c0001t0013g0187 a0001c0001t0016g0102 a0001c0001t0016g0168 a0001c0001t0017g0150 a0001c0001t0017g0195 a0001c0001t0020g0106 a0001c0001t0021g0145 a0001c0001t0025g0132 a0001c0001t0028g0089 a0001c0001t0037g0062 a0001c0001t0038g0105 a0007c0010t0001g0082	122	290	0.4207	20	c.892 others(37): Show c.892-8139_892-8120dupCAGAGCTCTAATAACTTATT	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
OCM_chr7_5875798_5891363	5876624	G G	GGATGGAG others(13): Show GGATGGAGGTTGTGGTAGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	450	0.0022	20	c.-42 others(31): Show c.-4266_-4265insGATGGAGGTTGTGGTAGTTA	OCM	ENSG00000122543.11	transcript	ENST00000242104.6	protein_coding		4173		chr7	TogoVar
OCM_chr7_5875798_5891363	5881629	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	450	0.0022	20	c.61+ others(33): Show c.61+687_61+706dupATAAATAAATAAATAAATAA	OCM	ENSG00000122543.11	transcript	ENST00000242104.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
OCSTAMP_chr20_46535946_46555654	46543305	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03471.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0067 a0001c0011t0003g0067	2	442	0.0045	20	c.104 others(39): Show c.1048-1379_1048-1378insAAAGAAAGAAAGGAAGGAAG	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2			chr20	TogoVar
OCSTAMP_chr20_46535946_46555654	46543305	C C	CCTTCCTT others(13): Show CCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG06807.hp1 NA19240.hp2 HG02886.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0125 a0001c0002t0003g0166 a0001c0002t0003g0192 a0001c0002t0002g0125 a0001c0002t0003g0166 a0001c0002t0003g0192	3	442	0.0068	20	c.104 others(39): Show c.1048-1379_1048-1378insAAAGAAAGAAAGAAAGGAAG	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2			chr20	TogoVar
OCSTAMP_chr20_46535946_46555654	46543305	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG02622.hp2 others(2): Show HG01261.hp1 HG01361.hp2 HG02622.hp2 HG03195.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0002 a0001c0002t0003 a0004c0006t0002 a0001c0002t0002 a0001c0002t0003 a0004c0006t0002	a0001c0002t0002g0233 a0001c0002t0003g0073 a0001c0002t0003g0078 others(2): Show a0001c0002t0002g0233 a0001c0002t0003g0073 a0001c0002t0003g0078 a0004c0006t0002g0182 a0004c0006t0002g0210	5	442	0.0113	20	c.104 others(39): Show c.1048-1398_1048-1379dupAAAGAAAGAAAGAAAGAAAG	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	2/2			chr20	TogoVar
OCSTAMP_chr20_46535946_46555654	46549806	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02083.hp2 HG03041.hp1 others(11): Show HG00609.hp1 HG02083.hp2 HG03041.hp1 NA18940.hp2 NA18945.hp2 NA18953.hp1 NA18965.hp2 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18991.hp2 NA19068.hp1 NA19074.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0003 a0001c0001 a0001c0017 a0002c0003	a0001c0001t0001 a0001c0017t0001 a0002c0003t0003 a0001c0001t0001 a0001c0017t0001 a0002c0003t0003	a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0163 a0001c0001t0001g0229 a0001c0017t0001g0161 a0002c0003t0003g0162	14	442	0.0317	20	c.44+ others(33): Show c.44+710_44+711insCACACACACACACACACACA	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	1/2			chr20	TogoVar

Search by Variant

Search

Search Results