Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCCT others(21): Show TCTTTCCTTCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0029 a0029	a0029c0033 a0029c0033	a0029c0033t0002 a0029c0033t0002	a0029c0033t0002g0058 a0029c0033t0002g0058	1	382	0.0026	28	c.-13 others(39): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAGAAGGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(21): Show TCTTTCTTTCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0036 a0002c0006t0014g0036	1	382	0.0026	28	c.-13 others(39): Show c.-1398_-1397insGAGGGAGGGAGGGAGGGAGGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	382	0.0026	28	c.-13 others(39): Show c.-1398_-1397insGAGGGAGGGAGGGAGGAAAGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 NA18978.hp1 NA18980.hp1 HG03704.hp2 NA18978.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0172 a0001c0001t0002g0174 a0001c0001t0001g0002 a0001c0001t0001g0172 a0001c0001t0002g0174	3	382	0.0079	28	c.-13 others(39): Show c.-1398_-1397insGAGGGAGGGAGGAAAGAAAGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG03927.hp1 NA18993.hp2 others(1): Show HG01106.hp1 HG03927.hp1 NA18993.hp2 NA19089.hp2	a0001 a0032 a0001 a0032	a0001c0001 a0001c0002 a0032c0041 a0001c0001 a0001c0002 a0032c0041	a0001c0001t0004 a0001c0002t0002 a0001c0002t0006 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0006 a0032c0041t0001	a0001c0001t0004g0001 a0001c0002t0002g0117 a0001c0002t0006g0024 others(1): Show a0001c0001t0004g0001 a0001c0002t0002g0117 a0001c0002t0006g0024 a0032c0041t0001g0177	4	382	0.0105	28	c.-13 others(39): Show c.-1398_-1397insGAGGGAGGAAGGAAAGAAAGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01069.hp2 others(4): Show HG00558.hp2 HG00741.hp1 HG01069.hp2 HG01952.hp2 HG01975.hp2 HG02155.hp1 NA18973.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0014 a0006c0013 others(1): Show a0001c0001 a0001c0014 a0006c0013 a0008c0018	a0001c0001t0001 a0001c0001t0004 a0001c0014t0015 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0014t0015 a0006c0013t0002 a0008c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0001 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0001 a0001c0014t0015g0170 a0006c0013t0002g0029 a0008c0018t0001g0230	7	382	0.0183	28	c.-13 others(39): Show c.-1398_-1397insGAGGGAGGAAAGAAAGAAAGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA19059.hp1 NA18981.hp2 NA19059.hp1	a0001 a0027 a0001 a0027	a0001c0004 a0027c0026 a0001c0004 a0027c0026	a0001c0004t0001 a0027c0026t0004 a0001c0004t0001 a0027c0026t0004	a0001c0004t0001g0285 a0027c0026t0004g0050 a0001c0004t0001g0285 a0027c0026t0004g0050	2	382	0.0052	28	c.-13 others(39): Show c.-1398_-1397insGAGGAAGGAAAGAAAGAAAGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02273.hp2 NA18998.hp2 others(1): Show HG02015.hp2 HG02273.hp2 NA18998.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0006	a0001c0001t0001g0164 a0001c0001t0005g0005 a0001c0002t0001g0025 others(1): Show a0001c0001t0001g0164 a0001c0001t0005g0005 a0001c0002t0001g0025 a0001c0003t0006g0080	4	382	0.0105	28	c.-13 others(39): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01981.hp2 others(1): Show HG01081.hp1 HG01109.hp2 HG01981.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0146 a0001c0001t0002g0157 a0001c0001t0002g0195 others(1): Show a0001c0001t0002g0146 a0001c0001t0002g0157 a0001c0001t0002g0195 a0001c0001t0007g0032	4	286	0.0140	28	c.34 others(39): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTTTCTT		GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding					1761		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03490.hp1 NA18942.hp2 others(1): Show HG02602.hp2 HG03490.hp1 NA18942.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0022 a0001c0001t0002 a0001c0001t0013 a0001c0001t0022	a0001c0001t0002g0163 a0001c0001t0002g0228 a0001c0001t0013g0183 others(1): Show a0001c0001t0002g0163 a0001c0001t0002g0228 a0001c0001t0013g0183 a0001c0001t0022g0170	4	349	0.0115	28	c.-1- others(45): Show c.-1-10761_-1-10760insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp1 HG02486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0345 a0001c0001t0025g0346 a0001c0001t0025g0345 a0001c0001t0025g0346	2	349	0.0057	28	c.-1- others(45): Show c.-1-33448_-1-33447insATATTTTTTTTTTTTTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG02896.hp2 others(4): Show HG01243.hp1 HG01433.hp1 HG02896.hp2 HG03579.hp2 NA18969.hp2 NA19085.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0181	7	320	0.0219	28	c.328 others(47): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TA		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12						chr4	TogoVar
GATB_chr4_151665504_151766007	151735736	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	320	0.0031	28	c.328 others(47): Show c.328-16199_328-16198insTATATATATATATATATATATATATA TA		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12						chr4	TogoVar
GBGT1_chr9_133147948_133168914	133162152	A A	AAGTCCTG others(21): Show AAGTCCTGGGTGGGGATAGAGACAGGGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG02004.hp1 HG01070.hp2 HG01081.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0054 a0001c0001t0001g0070	3	446	0.0067	28	c.71+ others(41): Show c.71+162_71+189dupCCCCCTGTCTCTATCCCCACCCAGGACT		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	2/6						chr9	TogoVar
GBGT1_chr9_133147948_133168914	133166545	C C	CGAGGGCA others(21): Show CGAGGGCAGCGGCTGGGATCAGGAGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	446	0.0022	28	c.-29 others(39): Show c.-2913_-2912insTGACCTCCTGATCCCAGCCGCTGCCCTC		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding					2632		chr9	TogoVar
GBGT1_chr9_133147948_133168914	133166545	C C	CGAGGGCA others(21): Show CGAGGGCAGCGGCTGGGATCGGGAGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG02486.hp1 others(19): Show HG00735.hp2 HG02145.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0007 a0013 a0014 a0018 a0023	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0005c0009 a0007c0013 a0013c0033 a0014c0023 a0018c0031 a0023c0032	a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 a0001c0005t0001 a0002c0002t0003 a0002c0002t0006 a0005c0009t0003 a0007c0013t0001 a0013c0033t0004 a0014c0023t0001 a0018c0031t0001 a0023c0032t0001	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0022 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0187 a0001c0001t0013g0201 a0001c0003t0001g0011 a0001c0005t0001g0099 a0001c0005t0001g0127 a0001c0005t0001g0185 a0002c0002t0003g0172 a0002c0002t0006g0048 a0005c0009t0003g0161 a0007c0013t0001g0186 a0013c0033t0004g0178 a0014c0023t0001g0194 a0018c0031t0001g0062 a0023c0032t0001g0200	22	446	0.0493	28	c.-29 others(39): Show c.-2913_-2912insTGACCTCCCGATCCCAGCCGCTGCCCTC		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding					2632		chr9	TogoVar
GBGT1_chr9_133147948_133168914	133166566	G G	GGAGGTCA others(21): Show GGAGGTCAGAGGGCAGCGGCTGGGATCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(363): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.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 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0015 a0017 a0019 a0021 a0022 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0035	a0001c0001 a0001c0003 a0001c0005 others(30): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0012 a0001c0024 a0002c0002 a0002c0004 a0002c0010 a0003c0008 a0004c0007 a0005c0009 a0006c0011 a0007c0013 a0008c0014 a0009c0015 a0010c0022 a0012c0017 a0015c0035 a0017c0041 a0019c0026 a0021c0034 a0022c0043 a0025c0036 a0026c0020 a0027c0027 a0028c0038 a0029c0025 a0030c0042 a0031c0039 a0032c0037 a0033c0021 a0035c0018	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(39): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0012t0001 a0001c0024t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0004t0002 a0002c0004t0004 a0002c0004t0012 a0002c0010t0002 a0003c0008t0001 a0003c0008t0002 a0003c0008t0009 a0004c0007t0002 a0005c0009t0003 a0005c0009t0008 a0006c0011t0005 a0007c0013t0001 a0008c0014t0002 a0009c0015t0001 a0010c0022t0001 a0012c0017t0002 a0015c0035t0006 a0017c0041t0003 a0019c0026t0002 a0021c0034t0002 a0022c0043t0002 a0025c0036t0002 a0026c0020t0001 a0027c0027t0001 a0028c0038t0002 a0029c0025t0001 a0030c0042t0002 a0031c0039t0002 a0032c0037t0002 a0033c0021t0001 a0035c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(156): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0010g0104 a0001c0001t0014g0202 a0001c0003t0001g0011 a0001c0003t0001g0034 a0001c0003t0001g0083 a0001c0005t0001g0035 a0001c0006t0001g0038 a0001c0006t0001g0102 a0001c0006t0001g0108 a0001c0006t0001g0109 a0001c0006t0001g0117 a0001c0012t0001g0024 a0001c0024t0001g0082 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0060 a0002c0002t0002g0130 a0002c0002t0002g0133 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0164 a0002c0002t0002g0169 a0002c0002t0002g0171 a0002c0002t0002g0179 a0002c0002t0003g0031 a0002c0002t0003g0163 a0002c0002t0011g0148 a0002c0004t0002g0049 a0002c0004t0002g0050 a0002c0004t0002g0132 a0002c0004t0002g0175 a0002c0004t0004g0177 a0002c0004t0012g0168 a0002c0010t0002g0135 a0002c0010t0002g0144 a0002c0010t0002g0170 a0003c0008t0001g0063 a0003c0008t0002g0184 a0003c0008t0009g0197 a0004c0007t0002g0019 a0004c0007t0002g0143 a0005c0009t0003g0166 a0005c0009t0008g0058 a0006c0011t0005g0059 a0007c0013t0001g0057 a0008c0014t0002g0042 a0008c0014t0002g0150 a0009c0015t0001g0052 a0010c0022t0001g0107 a0012c0017t0002g0182 a0015c0035t0006g0174 a0017c0041t0003g0167 a0019c0026t0002g0183 a0021c0034t0002g0181 a0022c0043t0002g0176 a0025c0036t0002g0155 a0026c0020t0001g0112 a0027c0027t0001g0120 a0028c0038t0002g0156 a0029c0025t0001g0118 a0030c0042t0002g0140 a0031c0039t0002g0131 a0032c0037t0002g0134 a0033c0021t0001g0087 a0035c0018t0001g0196	366	446	0.8206	28	c.-29 others(39): Show c.-2934_-2933insGCGATCCCAGCCGCTGCCCTCTGACCTC		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding					2653		chr9	TogoVar
GBGT1_chr9_133147948_133168914	133166593	G G	GCGAGGTC others(21): Show GCGAGGTCAGAGGGCAGCGGCTGGGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0024 a0024	a0024c0040 a0024c0040	a0024c0040t0002 a0024c0040t0002	a0024c0040t0002g0137 a0024c0040t0002g0137	1	446	0.0022	28	c.-29 others(39): Show c.-2961_-2960insTGATCCCAGCCGCTGCCCTCTGACCTCG		GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding					2680		chr9	TogoVar
GCGR_chr17_81799150_81819008	81809400	T T	TGTCTGCC others(21): Show TGTCTGCCTGTCCGTCTGCCTGCCTGTCC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	408	0.0025	28	c.60+ others(41): Show c.60+348_61-329dupTCCGTCTGCCTGTCCGTCTGCCTGCCTG		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GCGR_chr17_81799150_81819008	81817587	C C	CCCCCTGC others(21): Show CCCCCTGCACTCACTCAGCCCCGGGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	408	0.0025	28	c.38 others(39): Show c.3898_*3899insCCCCTGCACTCACTCAGCCCCGGGTCCT		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding					3580		chr17	TogoVar
GCH1_chr14_54837017_54907826	54905608	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG01496.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	346	0.0058	28	c.-29 others(39): Show c.-2946_-2945insGAGAGAGAGAGAGAGAGAGAGAGAGAGA		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding					2783		chr14	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp2 NA18989.hp1 HG01109.hp1 HG03130.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0249 a0001c0001t0002g0151 a0001c0001t0005g0213 a0001c0001t0001g0249 a0001c0001t0002g0151 a0001c0001t0005g0213	3	324	0.0093	28	c.925 others(45): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01975.hp1 HG01993.hp2 others(12): Show HG01346.hp1 HG01975.hp1 HG01993.hp2 HG02040.hp1 NA18747.hp2 NA18959.hp1 NA18969.hp2 NA18981.hp2 NA18990.hp1 NA18992.hp1 NA19000.hp2 NA19062.hp1 NA19063.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0059 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0002g0042 a0001c0001t0002g0223 a0001c0001t0002g0285	15	324	0.0463	28	c.925 others(47): Show c.925+39411_925+39438dupACACACACACACACACACACACACAC AC		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01975.hp1 HG01993.hp1 others(13): Show HG01346.hp1 HG01975.hp1 HG01993.hp1 HG02040.hp2 NA18959.hp1 NA18961.hp1 NA18969.hp2 NA18981.hp2 NA18990.hp2 NA18992.hp1 NA19000.hp2 NA19062.hp2 NA19063.hp1 NA19085.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0116 others(13): Show a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0199 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0066 a0001c0001t0002g0168 a0001c0001t0002g0182 a0001c0001t0002g0220	16	344	0.0465	28	c.919 others(47): Show c.919+11905_919+11932dupACACACACACACACACACACACACAC AC		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610507	C C	CTCCTTCC others(21): Show CTCCTTCCTTCTCTCCCTCCCTCCTTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02451.hp1 HG02622.hp1 others(6): Show HG01256.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG03225.hp2 HG03927.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0025	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0003g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0003g0001 a0001c0001t0003g0060 a0001c0001t0021g0001 a0001c0001t0025g0001	9	428	0.0210	28	c.-17 others(39): Show c.-1725_-1724insTCCTTCCTTCTCTCCCTCCCTCCTTCCG		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					1275		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610960	T T	TCCCCTCC others(21): Show TCCCCTCCCCTCCCCCTCCCCTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	428	0.0023	28	c.-12 others(39): Show c.-1272_-1271insCCCCTCCCCTCCCCCTCCCCTCCCCCTC		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					822		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611018	C C	CCTCCCCT others(21): Show CCTCCCCTCCCCTCCCCTCCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	428	0.0023	28	c.-12 others(39): Show c.-1214_-1213insCTCCCCTCCCCTCCCCTCCCCCTCCCCT		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					764		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02602.hp1 HG03710.hp2 others(5): Show HG00423.hp1 HG02602.hp1 HG03710.hp2 HG04228.hp2 NA18988.hp1 NA19082.hp1 NA19085.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0144 a0002c0002t0002g0002 a0002c0002t0002g0028 others(1): Show a0001c0001t0002g0144 a0002c0002t0002g0002 a0002c0002t0002g0028 a0002c0002t0002g0077	8	354	0.0226	28	c.21 others(39): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					1277		chr16	TogoVar
GDAP1L1_chr20_44242308_44285947	44276355	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG02735.hp1 others(5): Show HG00597.hp2 HG00642.hp1 HG02735.hp1 HG02965.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0067 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0005g0031	8	392	0.0204	28	c.761 others(45): Show c.761-2599_761-2572dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA		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(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18747.hp2 NA18948.hp2 others(5): Show HG00621.hp1 NA18747.hp2 NA18948.hp2 NA18950.hp1 NA18969.hp2 NA18991.hp1 NA18994.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0010 a0001c0001t0001g0149 a0001c0001t0001g0177 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0149 a0001c0001t0001g0177 a0001c0001t0001g0213 a0001c0001t0002g0129 a0001c0001t0002g0143 a0001c0001t0004g0162	8	392	0.0204	28	c.761 others(45): Show c.761-2517_761-2490dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA		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(21): Show TACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	392	0.0026	28	c.23 others(39): Show c.2369_*2370insACACACACACACACACACACACACACAC		GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding					723		chr20	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03195.hp2 others(1): Show HG02055.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0250 a0001c0001t0002g0146 a0001c0001t0002g0213 others(1): Show a0001c0001t0001g0250 a0001c0001t0002g0146 a0001c0001t0002g0213 a0001c0001t0014g0068	4	312	0.0128	28	c.212 others(45): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF2_chr10_47317454_47332588	47328379	T T	TGTGTGTG others(21): Show TGTGTGTGCACACTGGGGTGAGTGATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG01106.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0003 a0001c0001t0026	a0001c0001t0003g0001 a0001c0001t0026g0015 a0001c0001t0003g0001 a0001c0001t0026g0015	2	424	0.0047	28	c.25 others(39): Show c.2595_*2596insGTGTGTGCACACTGGGGTGAGTGATGTG		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					792		chr10	TogoVar
GDF2_chr10_47317454_47332588	47329001	G G	GGGGGTGA others(21): Show GGGGGTGAGTGATGTGGTGTGTGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	424	0.0024	28	c.32 others(39): Show c.3217_*3218insGGGGTGAGTGATGTGGTGTGTGCACCCT		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					1414		chr10	TogoVar
GDF2_chr10_47317454_47332588	47329459	A A	ACTGGGGT others(21): Show ACTGGGGTGAGTGATGCGGTGTGTGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	424	0.0024	28	c.36 others(39): Show c.3675_*3676insCTGGGGTGAGTGATGCGGTGTGTGCACC		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					1872		chr10	TogoVar
GDF3_chr12_7684784_7700775	7698933	T T	TAAATAAA others(21): Show TAAATAAATAAATAAATAAATAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	468	0.0021	28	c.-32 others(39): Show c.-3206_-3205insGTTTGTTTATTTATTTATTTATTTATTT		GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding					3159		chr12	TogoVar
GDF5_chr20_35428347_35443228	35438853	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTTTATGTGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	360	0.0028	28	c.-92 others(37): Show c.-926_-925insGGCACACATAAACACACACACACACACA		GDF5	ENSG00000125965.9	transcript	ENST00000374369.8	protein_coding					626		chr20	TogoVar
GDF7_chr2_20662144_20684243	20663249	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01175.hp2 others(2): Show HG00735.hp1 HG01099.hp2 HG01175.hp2 HG01433.hp2 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0196 a0001c0001t0218 a0001c0001t0219 others(2): Show a0001c0001t0196 a0001c0001t0218 a0001c0001t0219 a0001c0001t0238 a0006c0007t0135	a0001c0001t0196g0001 a0001c0001t0218g0001 a0001c0001t0219g0001 others(2): Show a0001c0001t0196g0001 a0001c0001t0218g0001 a0001c0001t0219g0001 a0001c0001t0238g0027 a0006c0007t0135g0020	5	442	0.0113	28	c.-39 others(39): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding					3894		chr2	TogoVar
GDI1_chrX_154432154_154448467	154442194	A A	ACCACGGA others(21): Show ACCACGGACCCTGAAAAGGAGGTGGGAGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0005	a0004c0008t0005g0024 a0004c0008t0005g0024	1	283	0.0035	28	c.109 others(37): Show c.1099_1100insGAGCCCACGGACCCTGAAAAGGAGGTGG	p.Glu others(5): Show p.Glu367fs	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	9/11	1201/2240	1100/1344	367/447		INFO_REALIGN_3_PRIME	chrX	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	424	0.0024	28	c.486 others(45): Show c.486+1166_486+1167insATATATATATATATATATATATATTTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEN1_chr2_17749138_17793946	17778229	T T	TATATGTG others(21): Show TATATGTGTGTACATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02886.hp2 HG02965.hp1 others(1): Show HG01109.hp2 HG02886.hp2 HG02965.hp1 NA18522.hp1	a0009 a0015 a0009 a0015	a0009c0008 a0015c0013 a0009c0008 a0015c0013	a0009c0008t0012 a0015c0013t0012 a0009c0008t0012 a0015c0013t0012	a0009c0008t0012g0104 a0009c0008t0012g0105 a0009c0008t0012g0106 others(1): Show a0009c0008t0012g0104 a0009c0008t0012g0105 a0009c0008t0012g0106 a0015c0013t0012g0103	4	318	0.0126	28	c.126 others(45): Show c.1264+190_1264+217dupCACACATATGTGTGTACATATATGTATA		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GEN1_chr2_17749138_17793946	17778347	C C	CATGTGTG others(21): Show CATGTGTGTACATATATGTATACACATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0093 a0010c0010t0002g0093	1	318	0.0031	28	c.126 others(45): Show c.1264+305_1264+306insCACATATATGTGTGTACATATATGTATA		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GEN1_chr2_17749138_17793946	17778371	C C	CACGCACA others(21): Show CACGCACATATGTGTACATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02258.hp2 HG02922.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0016 a0009c0008t0016	a0009c0008t0016g0033 a0009c0008t0016g0033	2	318	0.0063	28	c.126 others(45): Show c.1264+310_1264+311insGCACATATGTGTACATATATGTATATAC		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0002 a0001c0001t0033g0002	1	230	0.0044	28	c.254 others(47): Show c.254-43454_254-43427dupTTTCTTTCTTTCTTTCTTTCTTTCTT TC		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409140	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02630.hp2 HG03486.hp1 HG02083.hp2 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0057 a0001c0001t0100 a0001c0001t0006 a0001c0001t0057 a0001c0001t0100	a0001c0001t0006g0051 a0001c0001t0057g0064 a0001c0001t0100g0116 a0001c0001t0006g0051 a0001c0001t0057g0064 a0001c0001t0100g0116	3	230	0.0130	28	c.254 others(47): Show c.254-43479_254-43478insCTTCTTTCTTTCTTTCTTTCTTTCTT TC		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409215	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAGAAAGAAGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02886.hp2 NA20129.hp1 HG01192.hp2 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0090 a0001c0001t0121 a0001c0001t0076 a0001c0001t0090 a0001c0001t0121	a0001c0001t0076g0149 a0001c0001t0090g0057 a0001c0001t0121g0171 a0001c0001t0076g0149 a0001c0001t0090g0057 a0001c0001t0121g0171	3	230	0.0130	28	c.254 others(47): Show c.254-43554_254-43553insTTCCTTCTTTCTCTTTCTTTCTTTCT TT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFOD2_chr16_67669536_67724316	67717790	C C	CGATAGAT others(21): Show CGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19043.hp1 NA20129.hp1 HG02647.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158	3	186	0.0161	28	c.-88 others(45): Show c.-88+1372_-88+1373insTATCTATCTATCTATCTATCTATCTATC		GFOD2	ENSG00000141098.13	transcript	ENST00000268797.12	protein_coding	1/2						chr16	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0241 a0001c0003t0001g0241	1	412	0.0024	28	c.41 others(39): Show c.4105_*4106insATATATATTTTTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	412	0.0024	28	c.41 others(39): Show c.4105_*4106insATATATATATTTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0165 a0001c0005t0004g0165	1	412	0.0024	28	c.41 others(39): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar

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