Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AKAP6_chr14_32324298_32842684	32454904	T T	TCTCCTTC others(41): Show TCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0004 a0004c0018t0004	a0004c0018t0004g0040 a0004c0018t0004g0040	1	154	0.0065	48	c.324 others(67): Show c.324+21099_324+21100insCTCCCTCCTTCCCTCCCTCCCTCCCT CCTTCCCTCCCTCCTTCCCTCC	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0001 a0017c0031t0001	a0017c0031t0001g0026 a0017c0031t0001g0026	1	154	0.0065	48	c.273 others(69): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131241625	G G	GTATATAT others(41): Show GTATATATACGTATATATATATATGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0011 a0005c0005t0011	a0005c0005t0011g0165 a0005c0005t0011g0165	1	304	0.0033	48	c.850 others(67): Show c.850+21818_850+21819insATATATACGTATATATATATATGTGT GTGTGTGTGTGTATATATATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTATATAC others(41): Show GTATATACGTATATATATATATATGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	304	0.0033	48	c.850 others(67): Show c.850+21825_850+21826insCGTATATATATATATATGTGTGTGTG TGTGTGTATATATATATATATA	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTGTGTAT others(41): Show GTGTGTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	304	0.0033	48	c.850 others(67): Show c.850+21820_850+21821insGTGTATACGTATATATATGTGTGTGT GTGTGTGTGTGTGTGTGTATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTGTGTGT others(41): Show GTGTGTGTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01943.hp1 HG02300.hp1 others(7): Show HG00544.hp1 HG01943.hp1 HG02300.hp1 HG02922.hp2 NA18943.hp1 NA18951.hp2 NA18963.hp2 NA18980.hp2 NA18991.hp2 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0003c0003t0019	a0001c0001t0001g0031 a0001c0001t0002g0267 a0001c0001t0003g0047 others(7): Show a0001c0001t0001g0031 a0001c0001t0002g0267 a0001c0001t0003g0047 a0001c0001t0003g0055 a0001c0001t0004g0026 a0001c0001t0006g0253 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0012g0060 a0003c0003t0019g0242	10	304	0.0329	48	c.850 others(67): Show c.850+21820_850+21821insGTGTGTATACGTATATATATGTGTGT GTGTGTGTGTGTGTGTGTATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKT1_chr14_104764349_104800748	104798912	C C	CGGGGCAG others(41): Show CGGGGCAGGGCTGTGATCCAGGCAGGGCAGGGGGGGGGGGTGGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	386	0.0026	48	c.-36 others(59): Show c.-3687_-3686insCCCCTCCCACCCCCCCCCCCTGCCCTGCCTGGAT CACAGCCCTGCCCC	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding		3165		chr14	TogoVar
ALKBH4_chr7_102451238_102469863	102467070	G G	GGTGTGTG others(41): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTAGGCACCTGGGTTGTTGCTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	404	0.0025	48	c.-22 others(59): Show c.-2235_-2234insACCAGCAACAACCCAGGTGCCTACACACACACAC ACACACACACACAC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		2208		chr7	TogoVar
ALLC_chr2_3653200_3707671	3690278	C C	CCCCCTCC others(41): Show CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0133 a0003c0003t0001g0133	1	274	0.0037	48	c.512 others(65): Show c.512-5419_512-5418insTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690348	T T	TCCCCTCC others(41): Show TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	274	0.0037	48	c.512 others(65): Show c.512-5360_512-5359insCCTCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107810	C C	CAAGAAAG others(41): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19058.hp2 NA19010.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0304 a0001c0002t0001g0203 a0001c0002t0001g0304	2	422	0.0047	48	c.168 others(65): Show c.1684+610_1684+657dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK2_chr18_58476247_58634091	58527080	T T	TTGACTAT others(41): Show TTGACTATCTAAATCTTCATTCCTCAAATTGATGGACTATCAAACCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp1 HG02055.hp2 HG03453.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0003 a0011c0020t0008 a0011c0020t0003 a0011c0020t0008	a0011c0020t0003g0254 a0011c0020t0008g0143 a0011c0020t0003g0254 a0011c0020t0008g0143	2	320	0.0063	48	c.550 others(67): Show c.5501+2010_5501+2011insGAAGGTTTGATAGTCCATCAATTTGA GGAATGAAGATTTAGATAGTCA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	6/12			chr18	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(41): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG03098.hp1 NA18943.hp2 others(2): Show HG02015.hp1 HG03098.hp1 NA18943.hp2 NA18965.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0006t0003 a0001c0001t0001 a0002c0002t0001 a0002c0006t0003	a0001c0001t0001g0001 a0002c0002t0001g0008 a0002c0006t0003g0002 a0001c0001t0001g0001 a0002c0002t0001g0008 a0002c0006t0003g0002	5	410	0.0122	48	c.32 others(59): Show c.3282_*3283insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG03041.hp1 NA19083.hp2 HG02027.hp2 HG03041.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0003 a0001c0001t0001 a0002c0006t0003	a0001c0001t0001g0001 a0002c0006t0003g0002 a0001c0001t0001g0001 a0002c0006t0003g0002	3	410	0.0073	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02129.hp1 HG02698.hp2 others(1): Show HG02055.hp2 HG02129.hp1 HG02698.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0004c0004 a0001c0001 a0002c0006 a0004c0004	a0001c0001t0001 a0002c0006t0003 a0004c0004t0001 a0001c0001t0001 a0002c0006t0003 a0004c0004t0001	a0001c0001t0001g0001 a0002c0006t0003g0002 a0004c0004t0001g0002 a0001c0001t0001g0001 a0002c0006t0003g0002 a0004c0004t0001g0002	4	410	0.0098	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA18939.hp1 HG02451.hp2 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0003 a0002c0002t0001 a0002c0006t0003	a0002c0002t0001g0007 a0002c0006t0003g0002 a0002c0002t0001g0007 a0002c0006t0003g0002	2	410	0.0049	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	410	0.0024	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG04204.hp1 HG03225.hp2 HG04204.hp1	a0002 a0002	a0002c0006 a0002c0010 a0002c0006 a0002c0010	a0002c0006t0001 a0002c0010t0005 a0002c0006t0001 a0002c0010t0005	a0002c0006t0001g0001 a0002c0010t0005g0011 a0002c0006t0001g0001 a0002c0010t0005g0011	2	410	0.0049	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA18943.hp1 NA18966.hp1 HG01099.hp1 NA18943.hp1 NA18966.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0002 a0004c0004t0001g0002 a0002c0002t0001g0002 a0004c0004t0001g0002	3	410	0.0073	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGA GGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	410	0.0024	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGA GGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	1	410	0.0024	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGA GGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG04199.hp1 HG00408.hp2 HG04199.hp1	a0002 a0004 a0002 a0004	a0002c0006 a0004c0004 a0002c0006 a0004c0004	a0002c0006t0001 a0004c0004t0006 a0002c0006t0001 a0004c0004t0006	a0002c0006t0001g0001 a0004c0004t0006g0002 a0002c0006t0001g0001 a0004c0004t0006g0002	2	410	0.0049	48	c.33 others(59): Show c.3320_*3321insAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGA GGAGGAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALX4_chr11_44255440_44315139	44309149	T T	TGCTGTCC others(41): Show TGCTGTCCCGCAGCCCCGCAGCCCCGCTGTCCCGCAGCCCCGCAGCCCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0075 a0002c0003t0001g0075	1	388	0.0026	48	c.466 others(63): Show c.466+447_466+448insGGGGCTGCGGGGCTGCGGGACAGCGGGGCT GCGGGGCTGCGGGACAGC	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
ALX4_chr11_44255440_44315139	44309154	T T	TCCCGCAG others(41): Show TCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0379 a0001c0002t0001g0379	1	388	0.0026	48	c.466 others(63): Show c.466+442_466+443insGCTGCGGGGCTGCGGGGCTGCGGGGCTGCG GGGCTGCGGGGCTGCGGG	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
ALX4_chr11_44255440_44315139	44309154	T T	TCCCGCAG others(41): Show TCCCGCAGCCCCGCAGCCCCGCTGTCCCGCAGCCCCGCAGCCCCGCAGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02074.hp1 HG02074.hp2 others(9): Show HG00544.hp1 HG02074.hp1 HG02074.hp2 HG03017.hp1 HG04204.hp1 NA18948.hp1 NA18968.hp2 NA18971.hp2 NA18990.hp2 NA19002.hp2 NA19081.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0008 a0002c0003 a0002c0004 a0002c0008	a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 others(7): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0004t0020 a0002c0008t0004 a0002c0008t0005	a0002c0003t0001g0147 a0002c0003t0001g0153 a0002c0003t0002g0155 others(9): Show a0002c0003t0001g0147 a0002c0003t0001g0153 a0002c0003t0002g0155 a0002c0003t0002g0157 a0002c0003t0006g0148 a0002c0004t0002g0154 a0002c0004t0003g0156 a0002c0004t0004g0151 a0002c0004t0008g0152 a0002c0004t0020g0158 a0002c0008t0004g0150 a0002c0008t0005g0149	12	388	0.0309	48	c.466 others(63): Show c.466+442_466+443insGCTGCGGGGCTGCGGGGCTGCGGGACAGCG GGGCTGCGGGGCTGCGGG	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
ANAPC1_chr2_111762640_111889193	111764811	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0310 a0001c0012t0002g0310	1	370	0.0027	48	c.44 others(59): Show c.4479_*4480insGTGTGTATATATATATATATATATATATATATAT ATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2828		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0323 a0001c0005t0006g0323	1	370	0.0027	48	c.44 others(59): Show c.4477_*4478insGTGTGTGTGTGTATATATATATATATATATATAT ATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0318 a0001c0005t0006g0318	1	370	0.0027	48	c.44 others(59): Show c.4477_*4478insGTGTGTGTGTATATATATATATATATATATATAT ATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764850	A A	ACACATAT others(41): Show ACACATATATATATACACGTGTATATATATACGTGTATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0018 a0001c0006t0005g0018	1	370	0.0027	48	c.44 others(59): Show c.4440_*4441insCGTATATATATATACACGTATATATATACACGTG TATATATATATGTG	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2789		chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121357398	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	278	0.0036	48	c.-50 others(59): Show c.-5059_-5058insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		4988		chr12	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	292	0.0034	48	c.298 others(67): Show c.298-23244_298-23243insCTTCTTTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPTL5_chr11_101885674_101921522	101889442	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00735.hp1 others(5): Show HG00099.hp1 HG00099.hp2 HG00735.hp1 HG01516.hp2 HG02132.hp2 HG02738.hp1 NA19043.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0216 a0001c0001t0001g0253 a0001c0001t0002g0010 others(5): Show a0001c0001t0001g0216 a0001c0001t0001g0253 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0062 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0148	8	422	0.0190	48	c.18 others(59): Show c.1836_*1837insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1231		chr11	TogoVar
ANKFN1_chr17_56148475_56522016	56283524	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02965.hp2 HG00741.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0017 a0001c0001t0028 a0002c0002t0017	a0001c0001t0028g0060 a0002c0002t0017g0030 a0001c0001t0028g0060 a0002c0002t0017g0030	2	112	0.0179	48	c.54- others(65): Show c.54-42683_54-42682insATATATATATATATATATATATATATAT ATATATATATATATATATAT	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0276 a0001c0003t0002g0276	1	314	0.0032	48	c.486 others(65): Show c.486+2287_486+2288insAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0289 a0001c0003t0002g0289	1	314	0.0032	48	c.486 others(65): Show c.486+2287_486+2288insAAAAAAAAAAAATATATATATATATATA TATATATATATATATATATA	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKRD11_chr16_89262630_89495561	89305991	C C	CCTCCCAC others(41): Show CCTCCCACTCCGCAGACACGCCACTTACCTCCCACTCCGCAGACACGCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp2 HG03453.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0064 a0002c0002t0001g0065	2	310	0.0065	48	c.88- others(61): Show c.88-648_88-647insTGCGTGTCTGCGGAGTGGGAGGTAAGTGGCGT GTCTGCGGAGTGGGAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306020	C C	CCTCCCAC others(41): Show CCTCCCACTCCGCAGACACGCCACTTACCTCCCACTCCGCAGACACGCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02071.hp2 HG02145.hp1 others(17): Show HG01109.hp1 HG02071.hp2 HG02145.hp1 HG02451.hp2 HG02735.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03490.hp2 HG03540.hp1 HG04184.hp2 HG04204.hp1 NA18975.hp1 NA19043.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0013 a0028	a0001c0001 a0001c0024 a0003c0038 others(3): Show a0001c0001 a0001c0024 a0003c0038 a0004c0004 a0013c0019 a0028c0056	a0001c0001t0001 a0001c0024t0001 a0003c0038t0001 others(3): Show a0001c0001t0001 a0001c0024t0001 a0003c0038t0001 a0004c0004t0001 a0013c0019t0004 a0028c0056t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 others(17): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0024t0001g0270 a0003c0038t0001g0201 a0004c0004t0001g0093 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0119 a0013c0019t0004g0083 a0013c0019t0004g0084 a0028c0056t0001g0127	20	310	0.0645	48	c.88- others(61): Show c.88-677_88-676insTGCGTGTCTGCGGAGTGGGAGGTAAGTGGCGT GTCTGCGGAGTGGGAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9157550	G G	GGTGTGTA others(41): Show GGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0028 a0001c0007t0028	a0001c0007t0028g0026 a0001c0007t0028g0026	1	318	0.0031	48	c.-52 others(67): Show c.-52+20591_-52+20592insATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGGGTGTGTGTGTGTGT	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD17_chr4_73068376_73263798	73158152	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	292	0.0034	48	c.705 others(65): Show c.705-1987_705-1986insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33			chr4	TogoVar
ANKRD45_chr1_173603336_173674851	173613562	G G	GCCCCCGC others(41): Show GCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG01891.hp2 others(20): Show HG01081.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA19043.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0002t0002 a0002c0002t0007 a0002c0002t0012	a0002c0002t0002g0024 a0002c0002t0002g0039 a0002c0002t0002g0040 others(20): Show a0002c0002t0002g0024 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0076 a0002c0002t0007g0304 a0002c0002t0007g0306 a0002c0002t0007g0307 a0002c0002t0007g0308 a0002c0002t0012g0071	23	342	0.0673	48	c.731 others(65): Show c.731-3348_731-3347insGCTGACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGG	ANKRD45	ENSG00000183831.7	transcript	ENST00000333279.3	protein_coding	5/5			chr1	TogoVar
ANKRD6_chr6_89428152_89638821	89608368	C C	CACACACA others(41): Show CACACACACACACACACACACTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0005 a0003c0010t0005	a0003c0010t0005g0006 a0003c0010t0005g0006	1	270	0.0037	48	c.417 others(65): Show c.417+2263_417+2264insACACACACACACACACACACTATATATA TATATATATATATATATATA	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15			chr6	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02027.hp2 NA18946.hp1 others(1): Show HG00438.hp1 HG02027.hp2 NA18946.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0002t0001g0054 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0002t0001g0054 a0001c0002t0001g0097	4	302	0.0133	48	c.441 others(65): Show c.441+7202_441+7203insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO1_chr11_70073317_70194530	70095248	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19004.hp2 NA20129.hp1 HG01981.hp1 NA19004.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0112 a0001c0002t0001g0055 a0001c0001t0001g0047 a0001c0001t0001g0112 a0001c0002t0001g0055	3	302	0.0099	48	c.441 others(65): Show c.441+7206_441+7207insAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO2_chr12_5557655_5950259	5923254	A A	ACGCACGC others(41): Show ACGCACGCACACACCCACATACACACACACATGCACACATACACACACG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01358.hp1 HG01884.hp2 others(7): Show HG01192.hp2 HG01358.hp1 HG01884.hp2 HG02109.hp2 HG02258.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0002c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0002g0133 a0001c0001t0002g0149 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0005t0001g0003 a0002c0003t0002g0147	10	162	0.0617	48	c.23- others(61): Show c.23-451_23-450insCGTGTGTGTATGTGTGCATGTGTGTGTGTATG TGGGTGTGTGCGTGCG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5923254	A A	ACGCACGC others(41): Show ACGCACGCACACACCCACATACACACACACATGCACGCATACACACACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	162	0.0062	48	c.23- others(61): Show c.23-451_23-450insCGTGTGTGTATGCGTGCATGTGTGTGTGTATG TGGGTGTGTGCGTGCG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(41): Show GTGTGTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	234	0.0043	48	c.151 others(67): Show c.151-14181_151-14180insGTGTGTATATATATATATATATATAT ATATATATATATATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(41): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	234	0.0043	48	c.151 others(67): Show c.151-14181_151-14180insGTGTGTGTATATATATATATATATAT ATATATATATATATATATATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANP32E_chr1_150213417_150241112	150221604	G G	GGGAAGGA others(41): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG04228.hp2 HG02615.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0007 a0002c0001t0001 a0001c0003t0007 a0002c0001t0001	a0001c0003t0007g0298 a0002c0001t0001g0074 a0001c0003t0007g0298 a0002c0001t0001g0074	2	370	0.0054	48	c.737 others(63): Show c.737-844_737-843insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANP32E_chr1_150213417_150241112	150221612	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03130.hp2 others(1): Show HG02280.hp1 HG02886.hp1 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007	a0001c0003t0001g0198 a0001c0003t0001g0204 a0001c0003t0002g0190 others(1): Show a0001c0003t0001g0198 a0001c0003t0001g0204 a0001c0003t0002g0190 a0001c0003t0007g0203	4	370	0.0108	48	c.737 others(63): Show c.737-852_737-851insCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	6/6			chr1	TogoVar
ANXA10_chr4_168087537_168192736	168096911	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATGTATGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0274 a0002c0002t0001g0274	1	284	0.0035	48	c.18+ others(63): Show c.18+4211_18+4212insATATATATATATATATATATATATGTATGT ATATATATATATATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

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