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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(38): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02818.hp2 others(3): Show HG01109.hp1 HG02257.hp2 HG02818.hp2 HG03516.hp1 NA18974.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0002t0023	a0001c0001t0001g0128 a0001c0001t0003g0139 a0001c0002t0004g0035 others(3): Show a0001c0001t0001g0128 a0001c0001t0003g0139 a0001c0002t0004g0035 a0001c0002t0004g0045 a0001c0002t0004g0048 a0001c0002t0023g0034	6	39	0.1538	45	c.616 others(62): Show c.616+9391_616+9392insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116938373	G G	GGAGGAGA others(38): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0338 a0002c0003t0001g0338	1	300	0.0033	45	c.455 others(64): Show c.455-10994_455-10993insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305527	A A	AGATGGGG others(38): Show AGATGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	357	0.0028	45	c.173 others(64): Show c.1735-8163_1735-8162insATGGGGGGTCAGCCCCGACGCCCGGC CAGCCGTGCCATCCGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305703	A A	AGATGGGG others(38): Show AGATGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03225.hp2 HG02738.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0137 a0001c0001t0001g0028 a0001c0001t0001g0137	2	303	0.0066	45	c.173 others(64): Show c.1735-7987_1735-7986insATGGGGGGTCAGCCCCGACGCCCGGC CAGCCGTGCCATCCGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305706	T T	TGGGGGGT others(38): Show TGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG01943.hp1 others(1): Show HG01361.hp1 HG01891.hp1 HG01943.hp1 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0351 others(1): Show a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0001g0352	4	295	0.0136	45	c.173 others(64): Show c.1735-7979_1735-7978insTCAGCCCCGACGCCCGGCCAGCCGTG CCATCCGGGGGGAGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp2 HG01884.hp1 HG03453.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0003c0006t0001 a0002c0002t0001 a0003c0006t0001	a0002c0002t0001g0203 a0003c0006t0001g0220 a0002c0002t0001g0203 a0003c0006t0001g0220	2	195	0.0103	45	c.46+ others(62): Show c.46+16551_46+16552insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(38): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	194	0.0052	45	c.46+ others(62): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATATATATTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKI_chr1_2223319_2315213	2281142	C C	CGGTGGCG others(38): Show CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	308	0.0032	45	c.970 others(64): Show c.970-21812_970-21811insAGGACGCCCGAGAAGACAGGTGGTGG CGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281185	C C	CGGTGGCG others(38): Show CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0125 a0001c0001t0015g0125	1	311	0.0032	45	c.970 others(64): Show c.970-21776_970-21775insGAGAGAGAGGACGCCCGAGAAGACAG GTGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281359	C C	CGGTGGCG others(38): Show CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0148 a0001c0001t0018g0148	1	306	0.0033	45	c.970 others(64): Show c.970-21595_970-21594insAGGACGCCCGAGAAGACAGGTGGTGG CGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281445	C C	CGGTGGCG others(38): Show CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19067.hp1 NA19080.hp2 HG03688.hp1 NA19067.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0018 a0001c0005t0003 a0001c0001t0018 a0001c0005t0003	a0001c0001t0018g0027 a0001c0001t0018g0148 a0001c0005t0003g0136 a0001c0001t0018g0027 a0001c0001t0018g0148 a0001c0005t0003g0136	3	313	0.0096	45	c.970 others(64): Show c.970-21509_970-21508insAGGACGCCCGAGAAGACAGGTGGTGG CGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281641	G G	GAGATGCC others(38): Show GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0135 a0001c0001t0015g0135	1	235	0.0043	45	c.970 others(64): Show c.970-21337_970-21336insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281703	C C	CGGTGGCG others(38): Show CGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	308	0.0032	45	c.970 others(64): Show c.970-21270_970-21269insCGGAGATCTTCAGAGAGAGAGGACGC CCGAGAAGACAGGTGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281770	G G	GAGATGCC others(38): Show GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0054 a0002c0002t0054	a0002c0002t0054g0183 a0002c0002t0054g0183	1	282	0.0035	45	c.970 others(64): Show c.970-21208_970-21207insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281848	C C	CAGAGAGA others(38): Show CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0161 a0001c0001t0007g0161	1	323	0.0031	45	c.970 others(64): Show c.970-21116_970-21115insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281988	C C	CGCCCGAG others(38): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0154 a0001c0001t0012g0154	1	232	0.0043	45	c.970 others(64): Show c.970-20950_970-20949insAGGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282150	C C	CAGAGAGA others(38): Show CAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0062 a0001c0001t0017g0062	1	325	0.0031	45	c.970 others(64): Show c.970-20818_970-20817insTGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCATAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282287	G G	GAGATGCC others(38): Show GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0187 a0002c0004t0001g0187	1	259	0.0039	45	c.970 others(64): Show c.970-20691_970-20690insAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2282373	G G	GAGATGCC others(38): Show GAGATGCCCGAGAAGACAGGTGGCGGCGGCGATCTTCAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	229	0.0044	45	c.970 others(64): Show c.970-20605_970-20604insAGATGCCCGAGAAGACAGGTGGCGGC GGCGATCTTCAGAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC12A6_chr15_34224784_34342781	34310789	T T	TGTGTGTG others(38): Show TGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp1 others(37): Show HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG01109.hp2 HG01496.hp1 HG02015.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp2 HG02698.hp2 HG03669.hp2 NA18939.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19011.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0010 a0001c0002 a0001c0006 a0001c0010	a0001c0002t0002 a0001c0002t0018 a0001c0002t0032 others(5): Show a0001c0002t0002 a0001c0002t0018 a0001c0002t0032 a0001c0002t0033 a0001c0002t0045 a0001c0006t0001 a0001c0006t0054 a0001c0010t0002	a0001c0002t0002g0075 a0001c0002t0002g0198 a0001c0002t0002g0202 others(37): Show a0001c0002t0002g0075 a0001c0002t0002g0198 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0247 a0001c0002t0002g0252 a0001c0002t0002g0258 a0001c0002t0018g0064 a0001c0002t0018g0223 a0001c0002t0032g0209 a0001c0002t0033g0207 a0001c0002t0045g0233 a0001c0006t0001g0213 a0001c0006t0001g0229 a0001c0006t0001g0230 a0001c0006t0054g0253 a0001c0010t0002g0244 a0001c0010t0002g0245	40	266	0.1504	45	c.271 others(64): Show c.271+25620_271+25621insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1072040	G G	GAGCCCCC others(38): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTATGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0017 a0001c0009t0006g0017	1	102	0.0098	45	c.224 others(64): Show c.2241+1592_2241+1593insGCATACTGGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	167	0.0060	45	c.527 others(60): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC16A7_chr12_59591029_59794841	59672059	T T	TGCATATA others(38): Show TGCATATATACGTATATATGCATATATACGTATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0256 a0002c0002t0004g0256	1	76	0.0132	45	c.-31 others(64): Show c.-31+16809_-31+16810insGCATATATACGTATATATGCATATAT ACGTATATATGTGTATATA	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5			chr12	TogoVar
SLC22A14_chr3_38277294_38323575	38313685	T T	TGTGCGCG others(38): Show TGTGCGCGCGCTGCGCGCGCGCGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0302 a0005c0005t0002g0302	1	60	0.0167	45	c.116 others(60): Show c.1164-41_1164-40insTGCGCGCGCTGCGCGCGCGCGTGTGTGTGT GTGTGTGCGCGCGCG	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC22A2_chr6_160211755_160263821	160262926	A A	AAAAGGAA others(38): Show AAAAGGAAAAAGGGAAAAAAAAAAACGGGGGGGGAAAAAAAAACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	308	0.0032	45	c.-41 others(56): Show c.-4170_-4169insAGGTTTTTTTTTCCCCCCCCGTTTTTTTTTTTCC CTTTTTCCTTT	SLC22A2	ENSG00000112499.13	transcript	ENST00000366953.8	protein_coding		4106		chr6	TogoVar
SLC22A31_chr16_89190761_89205537	89190929	T T	TTTCCTCA others(38): Show TTTCCTCACCTCACAGAAGGTGCTGGTGACTGCAGCTCCCATCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0008 a0004c0009t0001g0008	1	426	0.0023	45	c.50 others(56): Show c.5025_*5069dupTATGATGGGAGCTGCAGTCACCAGCACCTTCTGT GAGGTGAGGAA	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		4831		chr16	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(38): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0125 a0001c0004t0001g0125	1	112	0.0089	45	c.931 others(64): Show c.931-14017_931-14016insGAAAGAAAGAAAGAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC25A15_chr13_40784611_40817460	40813136	A A	ACCCCCCC others(38): Show ACCCCCCCCCCCCCACCCCCCCCCCCCCCCCTCCCCCACCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	257	0.0039	45	c.34 others(56): Show c.3469_*3470insCCCCCCCCCCCCCACCCCCCCCCCCCCCCCTCCC CCACCCCCCCC	SLC25A15	ENSG00000102743.16	transcript	ENST00000338625.9	protein_coding		677		chr13	TogoVar
SLC25A21_chr14_36672921_37177606	36764079	A A	AAGAAAGA others(38): Show AAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	46	0.0217	45	c.204 others(64): Show c.204-29507_204-29506insCTTCCTTCCTTCCTTCCTTCCTTCTT TCTTTCTTTCTTTCTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A33_chr1_9534465_9590173	9564739	A A	AAAAAAAT others(38): Show AAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	161	0.0062	45	c.237 others(62): Show c.237-2544_237-2543insAAAAATATATATATATATATATATATAT ATATATATATATATATA	SLC25A33	ENSG00000171612.7	transcript	ENST00000302692.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A3_chr12_98588686_98611367	98604397	T T	TATAATTG others(38): Show TATAATTGCTTTTTTTTTACTTTTTTTCTTTTTGATTTTTTTTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0001 a0001c0001t0077g0001	1	418	0.0024	45	c.28 others(56): Show c.2869_*2870insATAATTGCTTTTTTTTTACTTTTTTTCTTTTTGA TTTTTTTTTTC	SLC25A3	ENSG00000075415.15	transcript	ENST00000228318.8	protein_coding	8/8	2870		chr12	TogoVar
SLC25A4_chr4_185138266_185155382	185141271	T T	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 NA18955.hp1 others(3): Show HG00408.hp1 HG00408.hp2 NA18955.hp1 NA18961.hp1 NA18984.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0004 a0001c0001t0005g0008 a0001c0001t0009g0004 a0001c0001t0005g0004 a0001c0001t0005g0008 a0001c0001t0009g0004	6	421	0.0143	45	c.-21 others(56): Show c.-2102_-2101insCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTC	SLC25A4	ENSG00000151729.11	transcript	ENST00000281456.11	protein_coding		1994		chr4	TogoVar
SLC26A4_chr7_107655828_107722809	107686303	C C	CCCTTCCC others(38): Show CCCTTCCCTCCCTTTCCTACCTGCACTCCCTTTCCTCCCCTTCCTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20300.hp1 HG03195.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0070 a0001c0001t0007g0184 a0001c0001t0001g0070 a0001c0001t0007g0184	2	362	0.0055	45	c.100 others(64): Show c.1002-2737_1002-2736insTCCTACCTGCACTCCCTTTCCTCCCC TTCCTACCTTCCCTCCCTT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC2A14_chr12_7807514_7877915	7826860	T T	TCCTTCCT others(38): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0286 a0001c0006t0004g0286	1	224	0.0045	45	c.864 others(60): Show c.864+634_864+635insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747381	T T	TTGGAAGG others(38): Show TTGGAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA19058.hp1 HG02165.hp2 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	368	0.0054	45	c.43 others(56): Show c.4391_*4392insTGGAAGGGGGGGCAGGGGGTGAGCAGGGCCTGGT GGAGGTGGGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3332		chr20	TogoVar
SLC33A1_chr3_155816024_155859427	155828616	G G	GGTCTCAC others(38): Show GGTCTCACTTGTGGCCCCGGCTGAAATGCAGTGGTGTGATAATGGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0331 a0002c0002t0003g0331	1	390	0.0026	45	c.148 others(62): Show c.1483-284_1483-240dupGCCATTATCACACCACTGCATTTCAGCC GGGGCCACAAGTGAGAC	SLC33A1	ENSG00000169359.16	transcript	ENST00000643144.2	protein_coding	5/5			chr3	TogoVar
SLC38A10_chr17_81239811_81300307	81249456	G G	GAGGGAGA others(38): Show GAGGGAGAAGAGAGGAGGGAGAAAGAGGGAGGCGAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0028 a0003c0006t0001g0028	1	20	0.0500	45	c.206 others(64): Show c.2065+2036_2065+2037insTCTCCCTCCTCTCGCCTCCCTCTTTC TCCCTCCTCTCTTCTCCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC38A4_chr12_46759761_46830997	46790782	T T	TTTTGATA others(38): Show TTTTGATACCAAACCCAGCATGTATTGAAAACACAAGTATAATGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0002 a0011c0009t0002	a0011c0009t0002g0245 a0011c0009t0002g0245	1	382	0.0026	45	c.120 others(62): Show c.120-2165_120-2164insCTCATTATACTTGTGTTTTCAATACATG CTGGGTTTGGTATCAAA	SLC38A4	ENSG00000139209.16	transcript	ENST00000266579.9	protein_coding	3/16			chr12	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGGAAA others(38): Show AAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG03486.hp2 others(1): Show HG01891.hp2 HG02809.hp1 HG03486.hp2 NA18522.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0015 a0002c0002 a0004c0009 a0001c0015 a0002c0002 a0004c0009	a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0004c0009t0006	a0001c0015t0001g0064 a0002c0002t0001g0128 a0002c0002t0002g0035 others(1): Show a0001c0015t0001g0064 a0002c0002t0001g0128 a0002c0002t0002g0035 a0004c0009t0006g0151	4	59	0.0678	45	c.306 others(64): Show c.306+27323_306+27324insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73026187	G G	GAGAGAAG others(38): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01496.hp1 HG02015.hp1 others(5): Show HG00621.hp2 HG01496.hp1 HG02015.hp1 HG02083.hp2 HG02258.hp1 NA18971.hp1 NA18982.hp1 NA19012.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0009 others(1): Show a0001c0001 a0003c0003 a0004c0009 a0005c0023	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0003c0003t0015 a0004c0009t0003 a0005c0023t0001	a0001c0001t0002g0031 a0001c0001t0004g0180 a0001c0001t0005g0148 others(5): Show a0001c0001t0002g0031 a0001c0001t0004g0180 a0001c0001t0005g0148 a0001c0001t0006g0087 a0001c0001t0009g0034 a0003c0003t0015g0178 a0004c0009t0003g0125 a0005c0023t0001g0063	8	18	0.4444	45	c.306 others(62): Show c.306+5368_306+5369insTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403435	A A	AAAGAAGA others(38): Show AAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	141	0.0142	45	c.43 others(56): Show c.4356_*4357insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTC TTCTTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3518		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(38): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp1 NA18983.hp2 others(1): Show HG01891.hp2 HG02630.hp1 NA18983.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0178 a0001c0001t0003g0002 a0001c0001t0003g0005 others(1): Show a0001c0001t0002g0178 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0011g0134	4	222	0.0180	45	c.42 others(56): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403550	G G	GGAAGAAG others(38): Show GGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	74	0.0135	45	c.42 others(56): Show c.4241_*4242insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3403		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403553	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA20805.hp2 HG02015.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0008 a0001c0001t0003g0048 a0001c0001t0002g0008 a0001c0001t0003g0048	2	308	0.0065	45	c.42 others(56): Show c.4238_*4239insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3400		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403559	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	292	0.0034	45	c.42 others(56): Show c.4232_*4233insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3394		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403562	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG03239.hp1 HG02055.hp2 HG02809.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0002g0013 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0002g0013	3	295	0.0102	45	c.42 others(56): Show c.4229_*4230insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3391		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403568	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	315	0.0032	45	c.42 others(56): Show c.4223_*4224insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3385		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403571	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	314	0.0032	45	c.42 others(56): Show c.4220_*4221insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3382		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403574	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	318	0.0031	45	c.42 others(56): Show c.4217_*4218insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3379		chr11	TogoVar
SLC48A1_chr12_47768238_47787751	47769837	A A	AATTAAAT others(38): Show AATTAAATTTAAATTAATTTAAATTAAATACACTAAACTTAAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	434	0.0023	45	c.-34 others(56): Show c.-3468_-3467insATTAAATTTAAATTAATTTAAATTAAATACACTA AACTTAAATAC	SLC48A1	ENSG00000211584.14	transcript	ENST00000442218.3	protein_coding		3400		chr12	TogoVar

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