Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
GCNT3_chr15_59606783_59627723	59610695	T T	TTCCCTCC others(17): Show TTCCCTCCTTCCTTCCTTCCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA19066.hp2 NA18977.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0076 a0001c0001t0072 a0001c0001t0076	a0001c0001t0072g0004 a0001c0001t0076g0003 a0001c0001t0072g0004 a0001c0001t0076g0003	2	428	0.0047	24	c.-15 others(35): Show c.-1537_-1536insTCCCTCCTTCCTTCCTTCCCTCTC		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					1087		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02015.hp2 HG02074.hp2 others(9): Show HG00558.hp1 HG02015.hp2 HG02074.hp2 HG03453.hp1 HG04228.hp1 NA18948.hp1 NA18951.hp1 NA18987.hp2 NA19065.hp1 NA19068.hp1 NA19081.hp2 NA19091.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0010 a0002c0002t0014 others(1): Show a0002c0002t0002 a0002c0002t0010 a0002c0002t0014 a0003c0003t0004	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0010g0079 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0010g0079 a0002c0002t0014g0073 a0003c0003t0004g0150	12	354	0.0339	24	c.21 others(35): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAA		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					1277		chr16	TogoVar
GDAP1L1_chr20_44242308_44285947	44276355	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01192.hp1 HG01943.hp1 others(15): Show HG00558.hp1 HG01192.hp1 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp2 HG02148.hp1 HG02300.hp2 HG03017.hp2 HG03098.hp1 NA18942.hp2 NA18943.hp2 NA18983.hp2 NA18995.hp2 NA19011.hp1 NA19066.hp2 NA19068.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0041 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0188 a0001c0001t0005g0030 a0001c0001t0005g0033	18	392	0.0459	24	c.761 others(41): Show c.761-2595_761-2572dupGGAAGGAAGGAAGGAAGGAAGGAA		GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44276412	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG02559.hp2 others(20): Show HG00735.hp2 HG01069.hp2 HG02559.hp2 HG02615.hp1 HG02818.hp1 HG02897.hp2 HG03492.hp1 HG03942.hp1 HG04115.hp2 NA18906.hp2 NA18941.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18979.hp1 NA18981.hp2 NA18985.hp2 NA18995.hp1 NA18998.hp2 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 others(17): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0124 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0323 a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0010g0279	23	392	0.0587	24	c.761 others(41): Show c.761-2513_761-2490dupGAAAGAAAGAAAGAAAGAAAGAAA		GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44281669	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01516.hp1 HG01517.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0108 a0001c0001t0003g0016 a0001c0001t0003g0108	3	392	0.0077	24	c.23 others(35): Show c.2369_*2370insACACACACACACACACACACACAC		GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding					723		chr20	TogoVar
GDAP1_chr8_74345403_74371876	74356716	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02257.hp2 others(2): Show HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02615.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	5	430	0.0116	24	c.311 others(41): Show c.311-3420_311-3419insATATATATATTTTTTTTTTTTTTT		GDAP1	ENSG00000104381.14	transcript	ENST00000220822.12	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATAGATA others(17): Show GATAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp1 HG02486.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0234 a0001c0001t0021g0230 a0001c0001t0001g0234 a0001c0001t0021g0230	2	312	0.0064	24	c.212 others(41): Show c.212+3261_212+3262insGATATATATATATATATATATATA		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG04184.hp2 NA19004.hp1 HG00438.hp1 HG04184.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0001g0277 a0001c0001t0002g0297 a0001c0001t0001g0060 a0001c0001t0001g0277 a0001c0001t0002g0297	3	312	0.0096	24	c.212 others(41): Show c.212+3273_212+3274insTATATATATATATATATATATATA		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF11_chr12_55738122_55762264	55740235	T T	TTTCTTTT others(17): Show TTTCTTTTCTTTTCTTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01943.hp2 HG02004.hp2 others(8): Show HG00673.hp1 HG01943.hp2 HG02004.hp2 HG02129.hp1 HG02155.hp1 NA18955.hp1 NA18972.hp1 NA18978.hp2 NA18984.hp1 NA18998.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0033 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0004g0002 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0004g0002 a0001c0001t0033g0001 a0001c0003t0001g0001	11	366	0.0301	24	c.-30 others(35): Show c.-3082_-3081insTTCTTTTCTTTTCTTTTTCTTTTC		GDF11	ENSG00000135414.10	transcript	ENST00000257868.10	protein_coding					2886		chr12	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	424	0.0024	24	c.278 others(39): Show c.278-470_278-447dupTTTTTTTTTTTTTTTTTTTTTTTT		GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF15_chr19_18381158_18394176	18389480	T T	TGGCACAA others(17): Show TGGCACAATCACAGCTCACTGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00733.hp2 others(43): Show HG00280.hp1 HG00323.hp1 HG00733.hp2 HG01081.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp2 HG01346.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0005 a0004c0006 a0004c0005 a0004c0006	a0004c0005t0003 a0004c0006t0003 a0004c0005t0003 a0004c0006t0003	a0004c0005t0003g0005 a0004c0005t0003g0020 a0004c0005t0003g0048 others(4): Show a0004c0005t0003g0005 a0004c0005t0003g0020 a0004c0005t0003g0048 a0004c0005t0003g0049 a0004c0006t0003g0014 a0004c0006t0003g0015 a0004c0006t0003g0030	46	424	0.1085	24	c.54 others(33): Show c.545_*546insGGCACAATCACAGCTCACTGCAGC		GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding					305		chr19	TogoVar
GDF3_chr12_7684784_7700775	7690640	A A	AAAGTAGA others(17): Show AAAGTAGAGGAGCTTCTGCAGGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18994.hp2 NA18994.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0132 a0007c0005t0001g0132	1	468	0.0021	24	c.309 others(31): Show c.309_332dupCTGCCTGCAGAAGCTCCTCTACTT	p.Phe others(37): Show p.Phe111_Asn112insCysLeuGlnLysLeuLeuTyrPhe	GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding	2/2	379/1236	332/1095	111/364			chr12	TogoVar
GDF3_chr12_7684784_7700775	7698933	T T	TAAATAAA others(17): Show TAAATAAATAAATAAATAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01168.hp1 NA19080.hp1 others(1): Show HG01099.hp2 HG01168.hp1 NA19080.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0092 a0003c0003t0001g0028	4	468	0.0086	24	c.-32 others(35): Show c.-3206_-3205insGTTTGTTTATTTATTTATTTATTT		GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding					3159		chr12	TogoVar
GDF6_chr8_96137333_96165806	96144244	T T	TAGAGAGA others(17): Show TAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0130 a0001c0001t0100g0130	1	368	0.0027	24	c.29 others(33): Show c.295_*318dupCTCTCTCTCTCTCTCTCTCTCTCT		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	2/2				318		chr8	TogoVar
GDF6_chr8_96137333_96165806	96146707	C C	CACAGAGA others(17): Show CACAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0045 a0001c0001t0019g0045	2	368	0.0054	24	c.407 others(41): Show c.407-1184_407-1183insCTCTCTCTCTCTCTCTCTCTCTGT		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	1/1						chr8	TogoVar
GDF6_chr8_96137333_96165806	96164182	C C	CTCTCTGT others(17): Show CTCTCTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	368	0.0027	24	c.-34 others(35): Show c.-3491_-3490insCACACACACACACACACACAGAGA		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding					3377		chr8	TogoVar
GDF7_chr2_20662144_20684243	20663249	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0026 a0001c0001t0113g0026	1	442	0.0023	24	c.-39 others(35): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAA		GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding					3894		chr2	TogoVar
GDF7_chr2_20662144_20684243	20666733	T T	TGGAGGGC others(17): Show TGGAGGGCGAGCCCTTCCGCGGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(305): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0001c0012 others(12): Show a0001c0001 a0001c0005 a0001c0012 a0001c0017 a0001c0024 a0002c0014 a0003c0003 a0004c0021 a0006c0007 a0006c0031 a0010c0013 a0011c0019 a0012c0018 a0013c0020 a0014c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(161): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0064 a0001c0001t0104 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0138 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0146 a0001c0001t0147 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0182 a0001c0001t0185 a0001c0001t0186 a0001c0001t0189 a0001c0001t0192 a0001c0001t0193 a0001c0001t0195 a0001c0001t0196 a0001c0001t0199 a0001c0001t0201 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0205 a0001c0001t0206 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0210 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0216 a0001c0001t0217 a0001c0001t0218 a0001c0001t0219 a0001c0001t0220 a0001c0001t0223 a0001c0001t0230 a0001c0001t0243 a0001c0001t0245 a0001c0001t0248 a0001c0001t0249 a0001c0001t0250 a0001c0001t0251 a0001c0001t0252 a0001c0005t0037 a0001c0005t0068 a0001c0005t0083 a0001c0005t0084 a0001c0005t0085 a0001c0005t0086 a0001c0005t0099 a0001c0012t0065 a0001c0012t0222 a0001c0017t0058 a0001c0024t0200 a0002c0014t0057 a0003c0003t0008 a0003c0003t0012 a0003c0003t0027 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0134 a0003c0003t0187 a0003c0003t0188 a0003c0003t0190 a0003c0003t0191 a0003c0003t0194 a0003c0003t0197 a0003c0003t0198 a0003c0003t0211 a0004c0021t0148 a0006c0007t0106 a0006c0031t0041 a0010c0013t0183 a0010c0013t0184 a0011c0019t0139 a0012c0018t0120 a0013c0020t0221 a0014c0028t0244	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(174): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0007g0001 a0001c0001t0007g0007 a0001c0001t0009g0001 a0001c0001t0009g0004 a0001c0001t0010g0001 a0001c0001t0013g0001 a0001c0001t0016g0004 a0001c0001t0017g0001 a0001c0001t0020g0001 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0023g0001 a0001c0001t0025g0001 a0001c0001t0026g0001 a0001c0001t0028g0005 a0001c0001t0029g0001 a0001c0001t0041g0001 a0001c0001t0042g0004 a0001c0001t0043g0001 a0001c0001t0044g0001 a0001c0001t0045g0001 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0047g0007 a0001c0001t0048g0001 a0001c0001t0049g0001 a0001c0001t0050g0001 a0001c0001t0051g0001 a0001c0001t0052g0001 a0001c0001t0052g0004 a0001c0001t0053g0001 a0001c0001t0053g0007 a0001c0001t0054g0001 a0001c0001t0055g0001 a0001c0001t0056g0001 a0001c0001t0059g0001 a0001c0001t0059g0023 a0001c0001t0060g0001 a0001c0001t0064g0001 a0001c0001t0104g0001 a0001c0001t0115g0001 a0001c0001t0116g0001 a0001c0001t0117g0001 a0001c0001t0119g0012 a0001c0001t0121g0012 a0001c0001t0122g0001 a0001c0001t0123g0001 a0001c0001t0124g0015 a0001c0001t0125g0001 a0001c0001t0126g0001 a0001c0001t0130g0004 a0001c0001t0132g0001 a0001c0001t0133g0001 a0001c0001t0138g0021 a0001c0001t0140g0004 a0001c0001t0141g0001 a0001c0001t0142g0001 a0001c0001t0143g0001 a0001c0001t0144g0001 a0001c0001t0146g0004 a0001c0001t0147g0004 a0001c0001t0149g0001 a0001c0001t0150g0004 a0001c0001t0151g0001 a0001c0001t0152g0007 a0001c0001t0153g0004 a0001c0001t0154g0001 a0001c0001t0155g0001 a0001c0001t0156g0001 a0001c0001t0157g0001 a0001c0001t0158g0004 a0001c0001t0159g0001 a0001c0001t0160g0001 a0001c0001t0161g0001 a0001c0001t0162g0001 a0001c0001t0163g0001 a0001c0001t0164g0001 a0001c0001t0165g0001 a0001c0001t0167g0001 a0001c0001t0168g0001 a0001c0001t0169g0001 a0001c0001t0170g0001 a0001c0001t0171g0001 a0001c0001t0172g0001 a0001c0001t0173g0001 a0001c0001t0174g0001 a0001c0001t0175g0001 a0001c0001t0176g0001 a0001c0001t0177g0001 a0001c0001t0178g0001 a0001c0001t0179g0001 a0001c0001t0180g0001 a0001c0001t0181g0001 a0001c0001t0182g0001 a0001c0001t0185g0001 a0001c0001t0186g0001 a0001c0001t0189g0024 a0001c0001t0192g0001 a0001c0001t0193g0001 a0001c0001t0195g0001 a0001c0001t0196g0001 a0001c0001t0199g0001 a0001c0001t0201g0004 a0001c0001t0202g0014 a0001c0001t0203g0001 a0001c0001t0204g0028 a0001c0001t0205g0001 a0001c0001t0206g0001 a0001c0001t0207g0001 a0001c0001t0208g0001 a0001c0001t0209g0001 a0001c0001t0210g0001 a0001c0001t0213g0001 a0001c0001t0214g0001 a0001c0001t0215g0001 a0001c0001t0216g0001 a0001c0001t0217g0001 a0001c0001t0218g0001 a0001c0001t0219g0001 a0001c0001t0220g0001 a0001c0001t0223g0001 a0001c0001t0230g0001 a0001c0001t0243g0001 a0001c0001t0245g0001 a0001c0001t0248g0001 a0001c0001t0249g0001 a0001c0001t0250g0001 a0001c0001t0251g0001 a0001c0001t0252g0001 a0001c0005t0037g0017 a0001c0005t0068g0017 a0001c0005t0083g0011 a0001c0005t0084g0011 a0001c0005t0085g0011 a0001c0005t0086g0011 a0001c0005t0099g0011 a0001c0012t0065g0001 a0001c0012t0222g0001 a0001c0017t0058g0001 a0001c0024t0200g0001 a0002c0014t0057g0001 a0003c0003t0008g0003 a0003c0003t0012g0003 a0003c0003t0027g0003 a0003c0003t0061g0003 a0003c0003t0062g0003 a0003c0003t0063g0003 a0003c0003t0134g0003 a0003c0003t0187g0003 a0003c0003t0188g0003 a0003c0003t0190g0003 a0003c0003t0191g0003 a0003c0003t0194g0003 a0003c0003t0197g0003 a0003c0003t0198g0003 a0003c0003t0211g0003 a0004c0021t0148g0004 a0006c0007t0106g0001 a0006c0031t0041g0001 a0010c0013t0183g0001 a0010c0013t0184g0001 a0011c0019t0139g0004 a0012c0018t0120g0012 a0013c0020t0221g0001 a0014c0028t0244g0001	308	442	0.6968	24	c.-50 others(33): Show c.-507_-506insGGAGGGCGAGCCCTTCCGCGGCCC		GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding					410		chr2	TogoVar
GDF7_chr2_20662144_20684243	20666734	G G	GGAGGGCG others(17): Show GGAGGGCGAGCCCTTCCGCGGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0001 a0001c0001t0131g0001	1	442	0.0023	24	c.-50 others(33): Show c.-506_-505insGAGGGCGAGCCCTTCCGCGGCCCA		GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding					409		chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(17): Show GGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02970.hp2 HG02970.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0221 a0013c0020t0221	a0013c0020t0221g0001 a0013c0020t0221g0001	1	442	0.0023	24	c.126 others(31): Show c.126_149dupCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly43_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450		INFO_REALIGN_3_PRIME	chr2	TogoVar
GDNF_chr5_37807677_37845041	37815487	T T	TTCCTCCT others(17): Show TTCCTCCTCCTCCTCCTCCTCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0253 a0001c0001t0101g0253	1	430	0.0023	24	c.14 others(33): Show c.140_*163dupGGAGGAGGAGGAGGAGGAGGAGGA		GDNF	ENSG00000168621.15	transcript	ENST00000326524.7	protein_coding	3/3				163		chr5	TogoVar
GDPD1_chr17_59215511_59280970	59255762	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0246 a0001c0001t0010g0246	1	312	0.0032	24	c.368 others(41): Show c.368-1359_368-1358insAAAAAAAAAAAATATATATATATA		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255784	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01884.hp2 HG01168.hp1 HG01169.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0075 a0001c0001t0009g0077 a0001c0001t0009g0247 a0001c0001t0009g0075 a0001c0001t0009g0077 a0001c0001t0009g0247	3	312	0.0096	24	c.368 others(41): Show c.368-1337_368-1336insTATATATATATATATATATATACA		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD1_chr17_59215511_59280970	59255831	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 NA21309.hp2 HG02145.hp1 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0069 a0001c0001t0008g0071 a0001c0001t0019g0073 a0001c0001t0008g0069 a0001c0001t0008g0071 a0001c0001t0019g0073	3	312	0.0096	24	c.368 others(41): Show c.368-1271_368-1270insTATATATATATATATATATATATA		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD5_chr11_75429640_75530941	75458673	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00423.hp1 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0073 a0001c0013t0001g0119 a0001c0001t0001g0073 a0001c0013t0001g0119	2	322	0.0062	24	c.222 others(39): Show c.222-911_222-888dupATTTATTTATTTATTTATTTATTT		GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	4/16						chr11	TogoVar
GDPD5_chr11_75429640_75530941	75512281	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01934.hp1 HG02080.hp2 others(6): Show HG00642.hp1 HG01934.hp1 HG02080.hp2 HG02886.hp1 HG03710.hp2 NA18950.hp1 NA18951.hp1 NA18977.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0002c0002t0002 a0002c0005t0002	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(6): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0072 a0001c0001t0011g0204 a0002c0002t0002g0071 a0002c0005t0002g0103 a0002c0005t0002g0104	9	322	0.0280	24	c.-14 others(45): Show c.-145+12905_-145+12928dupGTGTGTGTGTGTGTGTGTGTGTGT		GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	1/16						chr11	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	424	0.0024	24	c.486 others(41): Show c.486+1166_486+1167insATATATATATATATATATATATTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	424	0.0024	24	c.486 others(41): Show c.486+1166_486+1167insATATATATATATATATATATTTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18973.hp1 NA18963.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0309 a0001c0001t0001g0287 a0001c0001t0001g0309	2	424	0.0047	24	c.486 others(41): Show c.486+1166_486+1167insATATATATATATATATATTTTTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	424	0.0024	24	c.486 others(41): Show c.486+1166_486+1167insATATATATATATATATTTTTTTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GET4_chr7_871554_901436	897668	G G	GGGGGGCA others(17): Show GGGGGGCACCTGGGGAAGGGGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03579.hp2 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0004 a0001c0002t0002 a0001c0004t0004	a0001c0002t0002g0106 a0001c0004t0004g0260 a0001c0002t0002g0106 a0001c0004t0004g0260	2	384	0.0052	24	c.22 others(35): Show c.2246_*2247insGGGGGCACCTGGGGAAGGGGTGCT		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding					1233		chr7	TogoVar
GFOD1_chr6_13352830_13492600	13354200	A A	AAAAAAAT others(17): Show AAAAAAATAAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG06807.hp1 HG01891.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0141 a0001c0004t0085 a0001c0001t0141 a0001c0004t0085	a0001c0001t0141g0228 a0001c0004t0085g0165 a0001c0001t0141g0228 a0001c0004t0085g0165	2	230	0.0087	24	c.10 others(37): Show c.10542_*10543insATTTATTTATTTATTTTATTTTTT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding					3629		chr6	TogoVar
GFOD1_chr6_13352830_13492600	13390780	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18969.hp2 NA19001.hp2 others(1): Show NA18945.hp2 NA18969.hp2 NA19001.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0030 a0001c0001t0072 others(1): Show a0001c0001t0010 a0001c0001t0030 a0001c0001t0072 a0001c0001t0135	a0001c0001t0010g0216 a0001c0001t0030g0206 a0001c0001t0072g0135 others(1): Show a0001c0001t0010g0216 a0001c0001t0030g0206 a0001c0001t0072g0135 a0001c0001t0135g0205	4	230	0.0174	24	c.254 others(43): Show c.254-25142_254-25119dupCCTTCCTTCCTTCCTTCCTTCCTT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02970.hp1 others(2): Show HG02615.hp1 HG02809.hp2 HG02970.hp1 HG03195.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0034 a0001c0001t0043 others(2): Show a0001c0001t0022 a0001c0001t0034 a0001c0001t0043 a0001c0001t0083 a0001c0001t0119	a0001c0001t0022g0127 a0001c0001t0034g0013 a0001c0001t0043g0014 others(2): Show a0001c0001t0022g0127 a0001c0001t0034g0013 a0001c0001t0043g0014 a0001c0001t0083g0122 a0001c0001t0119g0191	5	230	0.0217	24	c.254 others(43): Show c.254-43450_254-43427dupTTTCTTTCTTTCTTTCTTTCTTTC		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409140	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp1 HG03579.hp1 others(3): Show HG02630.hp1 HG03453.hp1 HG03579.hp1 NA18906.hp2 NA19009.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0001t0028 a0001c0001t0042 a0001c0001t0061	a0001c0001t0004g0008 a0001c0001t0006g0162 a0001c0001t0022g0069 others(3): Show a0001c0001t0004g0008 a0001c0001t0006g0162 a0001c0001t0022g0069 a0001c0001t0028g0189 a0001c0001t0042g0028 a0001c0001t0061g0156	6	230	0.0261	24	c.254 others(43): Show c.254-43479_254-43478insCTTCTTTCTTTCTTTCTTTCTTTC		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409215	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAGAAAGAAGGAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18964.hp1 NA18964.hp2 HG03098.hp2 NA18964.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0134 a0001c0005t0013 a0001c0001t0002 a0001c0001t0134 a0001c0005t0013	a0001c0001t0002g0142 a0001c0001t0134g0227 a0001c0005t0013g0134 a0001c0001t0002g0142 a0001c0001t0134g0227 a0001c0005t0013g0134	3	230	0.0130	24	c.254 others(43): Show c.254-43554_254-43553insTTCCTTCTTTCTCTTTCTTTCTTT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13410577	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0159 a0001c0001t0067g0159	1	230	0.0044	24	c.254 others(43): Show c.254-44939_254-44916dupTCTCTCTCTCTCTCTCTCTCTCTC		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD2_chr16_67669536_67724316	67717790	C C	CGATAGAT others(17): Show CGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02895.hp2 others(2): Show HG02451.hp1 HG02559.hp2 HG02895.hp2 HG02922.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 others(2): Show a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0167	5	186	0.0269	24	c.-88 others(41): Show c.-88+1349_-88+1372dupTATCTATCTATCTATCTATCTATC		GFOD2	ENSG00000141098.13	transcript	ENST00000268797.12	protein_coding	1/2						chr16	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0277 a0001c0005t0011g0277	1	412	0.0024	24	c.41 others(35): Show c.4105_*4106insATATATATTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116058041	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGACAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0104 a0002c0003t0104	a0002c0003t0104g0069 a0002c0003t0104g0069	1	214	0.0047	24	c.63 others(35): Show c.6356_*6357insTCTCTGTCACACACACACACACAC		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	11/11				6356		chr10	TogoVar
GFRA1_chr10_116051925_116278206	116205596	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	214	0.0047	24	c.433 others(41): Show c.433+6011_433+6034dupATATATATATATATATATATATAT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10						chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0236 a0002c0002t0003g0236	1	322	0.0031	24	c.127 others(41): Show c.1272+392_1272+393insTATATATATATATATATATATATA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18949.hp2 NA18998.hp1 others(2): Show HG02717.hp2 NA18949.hp2 NA18998.hp1 NA19070.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0002t0003 a0002c0007t0002 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0007t0002 a0002c0007t0022	a0002c0002t0002g0089 a0002c0002t0003g0297 a0002c0007t0002g0021 others(2): Show a0002c0002t0002g0089 a0002c0002t0003g0297 a0002c0007t0002g0021 a0002c0007t0022g0211 a0002c0007t0022g0227	5	322	0.0155	24	c.127 others(41): Show c.1272+388_1272+389insTATATATATATATATATATATATA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21696331	T T	TTGTTTTG others(17): Show TTGTTTTGTATATTGGAGTCTTAGC	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18943.hp1 NA18971.hp1 others(1): Show HG02293.hp2 NA18943.hp1 NA18971.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0002t0003 a0002c0002t0028 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0028 a0002c0005t0002	a0002c0002t0002g0163 a0002c0002t0003g0286 a0002c0002t0028g0105 others(1): Show a0002c0002t0002g0163 a0002c0002t0003g0286 a0002c0002t0028g0105 a0002c0005t0002g0048	4	322	0.0124	24	c.121 others(43): Show c.1219-1838_1219-1815dupGCTAAGACTCCAATATACAAAACA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	7/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21714246	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0008 a0004c0015t0008	a0004c0015t0008g0189 a0004c0015t0008g0189	1	322	0.0031	24	c.795 others(41): Show c.795-8206_795-8205insAAAAAAAAAAAAAAAAAAAAAAAA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21744550	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0238 a0001c0001t0005g0238	1	322	0.0031	24	c.794 others(41): Show c.794+6014_794+6037dupGTGTGTGTGTGTGTGTGTGTGTGT		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8						chr8	TogoVar
GFRAL_chr6_55322469_55407493	55359164	G G	GTCTATCT others(17): Show GTCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01891.hp2 HG02630.hp1 others(8): Show HG01358.hp1 HG01891.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03704.hp1 HG04184.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0003 a0003c0003t0002 a0004c0004t0002 a0001c0001t0003 a0003c0003t0002 a0004c0004t0002	a0001c0001t0003g0260 a0001c0001t0003g0261 a0003c0003t0002g0253 others(8): Show a0001c0001t0003g0260 a0001c0001t0003g0261 a0003c0003t0002g0253 a0003c0003t0002g0254 a0003c0003t0002g0258 a0004c0004t0002g0159 a0004c0004t0002g0204 a0004c0004t0002g0205 a0004c0004t0002g0262 a0004c0004t0002g0263 a0004c0004t0002g0264	11	386	0.0285	24	c.952 others(37): Show c.952+48_952+49insTATCTATCTATCTATCTATCTATC		GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01099.hp1 others(34): Show HG00423.hp1 HG00544.hp2 HG01099.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG02165.hp1 HG02257.hp1 HG02523.hp2 HG02615.hp2 HG02976.hp2 HG03139.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04204.hp2 NA18941.hp2 NA18947.hp1 NA18950.hp2 NA18962.hp2 NA18966.hp1 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19011.hp2 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19085.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0002t0001g0022 a0001c0002t0002g0033 a0002c0005t0001g0024	37	415	0.0892	24	c.-16 others(35): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTT		GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding					1599		chr8	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG02258.hp1 HG01081.hp1 HG01175.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0042 a0002c0002t0031 a0002c0002t0042	a0002c0002t0031g0202 a0002c0002t0031g0214 a0002c0002t0042g0017 a0002c0002t0031g0202 a0002c0002t0031g0214 a0002c0002t0042g0017	3	254	0.0118	24	c.17 others(33): Show c.179_*202dupGTGTGTGTGTGTGTGTGTGTGTGT		GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17				202		chr16	TogoVar
GGA2_chr16_23458542_23515494	23511016	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA19083.hp2 NA18906.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0010 a0002c0002t0009 a0002c0002t0010	a0002c0002t0009g0241 a0002c0002t0010g0225 a0002c0002t0009g0241 a0002c0002t0010g0225	2	254	0.0079	24	c.-62 others(33): Show c.-629_-606dupACACACACACACACACACACACAC		GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding					523		chr16	TogoVar

Search by Variant

Search

Search Results