Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0096 a0002c0002t0012g0096	1	15	0.0667	39	c.852 others(54): Show c.852+587_852+588insATATATATATATATATATATTTTTTTTTTT TTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0097 a0002c0002t0005g0097	1	15	0.0667	39	c.852 others(54): Show c.852+587_852+588insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL36B_chr2_113017089_113057867	113017625	G G	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01943.hp1 HG02135.hp2 others(2): Show HG01257.hp2 HG01943.hp1 HG02135.hp2 HG02451.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0202 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0202 a0001c0001t0002g0212 a0001c0001t0002g0215	5	220	0.0227	39	c.50 others(50): Show c.5048_*5049insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTC	IL36B	ENSG00000136696.11	transcript	ENST00000259213.9	protein_coding		4463		chr2	TogoVar
IL36B_chr2_113017089_113057867	113017679	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	106	0.0094	39	c.49 others(50): Show c.4994_*4995insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTC	IL36B	ENSG00000136696.11	transcript	ENST00000259213.9	protein_coding		4409		chr2	TogoVar
IMMP2L_chr7_110657644_111567492	111016930	C C	CAATATAT others(32): Show CAATATATATTATATATAATTATATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02922.hp1 HG01192.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0055 a0001c0002t0004g0056	2	65	0.0308	39	c.240 others(58): Show c.240-53366_240-53365insTATATATAAATATATATATAATTATA TATAATATATATT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
IMPA2_chr18_11976507_12035877	11978211	C C	CTTTCTTT others(32): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0332 a0001c0003t0001g0332	1	128	0.0078	39	c.-34 others(50): Show c.-3459_-3458insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding		3295		chr18	TogoVar
IMPG1_chr6_75916114_76077662	75924568	T T	TATATATA others(32): Show TATATATAATTATATAATATAATTAATATAATTATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19000.hp2 HG00558.hp1 NA19000.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0097 a0004c0004t0002g0165 a0004c0004t0002g0097 a0004c0004t0002g0165	2	42	0.0476	39	c.224 others(56): Show c.2244-863_2244-862insTATATATAATTATATTAATTATATTATA TAATTATATAT	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	15/16			chr6	TogoVar
INPP4B_chr4_142018160_142851301	142564451	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	82	0.0122	39	c.-19 others(62): Show c.-190-101726_-190-101725insCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP5A_chr10_132532787_132788480	132758540	A A	AGTCCCCA others(32): Show AGTCCCCAGCTGACCCTATGGGCCAGTGCAATGTCGTTGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01071.hp1 HG01109.hp2 others(34): Show HG00621.hp1 HG01071.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01952.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02486.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18945.hp2 NA18952.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18990.hp1 NA19010.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 others(12): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0005t0018 a0001c0005t0019 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 a0001c0009t0008 a0001c0011t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(34): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0001t0017g0182 a0001c0003t0001g0145 a0001c0003t0004g0199 a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0018g0038 a0001c0005t0019g0035 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 a0001c0009t0008g0087 a0001c0011t0001g0172 a0002c0002t0001g0061 a0002c0002t0004g0203	37	202	0.1832	39	c.904 others(56): Show c.904-7217_904-7179dupTATGGGCCAGTGCAATGTCGTTGGGTCC CCAGCTGACCC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37895946	A A	AGTGAGGA others(32): Show AGTGAGGAGCGTCTCCGCCTGGCCGCCCATCGTCTGGGAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0259 a0002c0003t0014g0259	1	344	0.0029	39	c.533 others(56): Show c.533-4531_533-4493dupATCCCAGACGATGGGCGGCCAGGCGGAG ACGCTCCTCAC	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0298 a0002c0002t0003g0298	1	72	0.0139	39	c.281 others(56): Show c.281-1161_281-1160insATATATATATATATATATATATATATTT TTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp2 NA18943.hp1 HG00438.hp2 HG02074.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0002 a0001c0005t0001 a0002c0002t0002	a0001c0005t0001g0288 a0002c0002t0002g0062 a0002c0002t0002g0321 a0001c0005t0001g0288 a0002c0002t0002g0062 a0002c0002t0002g0321	3	74	0.0405	39	c.281 others(56): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT TTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0233 a0002c0002t0006g0233	1	194	0.0052	39	c.315 others(56): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INTS15_chr7_6585021_6613726	6613356	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	288	0.0035	39	c.51 others(50): Show c.5195_*5196insATATATATATATATATATATATATATATATATAT ATATA	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding		4631		chr7	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0341 a0001c0002t0031g0341	1	279	0.0036	39	c.429 others(54): Show c.429+508_429+509insATATATATATATACATATATATATATATAT ATATATATT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INVS_chr9_100094243_100307175	100100779	A A	ATATATAT others(32): Show ATATATATATTATATGTATATATAATATATATATTATATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0126 a0001c0002t0008g0126	1	111	0.0090	39	c.-25 others(56): Show c.-25+1370_-25+1371insATTATATGTATATATAATATATATATTA TATGTATATAT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	25	0.0400	39	c.85- others(54): Show c.85-5948_85-5947insAAAAAAAAAAAAAAATATATATATATATAT ATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19011.hp1 NA18974.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0068 a0001c0001t0005g0206 a0001c0001t0001g0068 a0001c0001t0005g0206	2	26	0.0769	39	c.85- others(54): Show c.85-5948_85-5947insAAAAAAAAAAATATATATATATATATATAT ATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0094 a0002c0004t0001g0094	1	25	0.0400	39	c.85- others(54): Show c.85-5948_85-5947insAAAAAAAAATATATATATATATATATATAT ATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp2 HG00673.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0106 a0001c0001t0001g0107	2	26	0.0769	39	c.85- others(54): Show c.85-5948_85-5947insAAAAAAATATATATATATATATATATATAT ATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	25	0.0400	39	c.85- others(54): Show c.85-5948_85-5947insAAAAATATATATATATATATATATATATAT ATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCJ_chr3_159064319_159268747	159200104	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	126	0.0079	39	c.10- others(56): Show c.10-45739_10-45738insTATATATATATATATATATATATATATA TATATATATAT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3			chr3	TogoVar
IQCM_chr4_149346709_149820843	149726127	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAGAGAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02738.hp1 HG00642.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0001g0003 a0001c0001t0002g0001	2	248	0.0081	39	c.385 others(56): Show c.385+7116_385+7117insTCTTTCTTTCTTTCTTTCTCTCTCTTTC TTTCTTTCTTT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	5/13			chr4	TogoVar
ITGAM_chr16_31254975_31337877	31270126	C C	CTCCTTTG others(32): Show CTCCTTTGCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01106.hp1 others(4): Show HG00323.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01433.hp2 HG03209.hp2 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0003 a0002c0003t0003 a0004c0006t0003	a0002c0003t0003g0121 a0002c0003t0003g0122 a0002c0003t0003g0123 others(4): Show a0002c0003t0003g0121 a0002c0003t0003g0122 a0002c0003t0003g0123 a0004c0006t0003g0004 a0004c0006t0003g0011 a0004c0006t0003g0015 a0004c0006t0003g0018	7	213	0.0329	39	c.428 others(54): Show c.428-827_428-826insCCTTTGCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB1_chr10_32895318_32963230	32962951	T T	TAACCCCC others(32): Show TAACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	422	0.0024	39	c.-48 others(50): Show c.-4808_-4807insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGTT	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding		4722		chr10	TogoVar
ITGB3BP_chr1_63435770_63528225	63444611	T T	TATCTCCT others(32): Show TATCTCCTATTACATATAGATTATATATGTCCTATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03195.hp2 HG02647.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0227 a0001c0001t0001g0228	2	372	0.0054	39	c.1+ others(54): Show c.1+2194_*1+2195insTATATATAGGACATATATAATCTATATGTA ATAGGAGAT	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	8/8			chr1	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(32): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	158	0.0063	39	c.254 others(56): Show c.254+6320_254+6321insGAGAGGGGAGAGGGGAGAGGGAGAGGGA GAGGGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITIH2_chr10_7698316_7754520	7737819	A A	ATTATATA others(32): Show ATTATATATTATATTCTATATATTATATATTATATTCTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02622.hp2 HG00280.hp1 HG02622.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0186 a0005c0006t0001g0245 a0001c0001t0001g0186 a0005c0006t0001g0245	2	364	0.0055	39	c.195 others(56): Show c.1958-802_1958-801insTTATATATTATATTCTATATATTATATA TTATATTCTAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738198	A A	ATATTATA others(32): Show ATATTATATATTATATTCTATATATTATATATTATATTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19005.hp1 NA19055.hp1 others(1): Show HG03516.hp1 NA19005.hp1 NA19055.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0008t0001g0137	4	371	0.0108	39	c.195 others(56): Show c.1958-423_1958-422insTATTATATATTATATTCTATATATTATA TATTATATTCT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26784942	T T	TCTCTGCC others(32): Show TCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00639.hp2 others(57): Show HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18964.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(36): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0001c0022 a0001c0025 a0001c0026 a0001c0027 a0001c0030 a0001c0031 a0001c0034 a0001c0037 a0001c0044 a0001c0046 a0001c0049 a0001c0051 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0064 a0001c0065 a0002c0009 a0002c0010 a0002c0023 a0003c0032 a0003c0033 a0007c0036 a0008c0053 a0010c0068	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(54): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0035 a0001c0002t0001 a0001c0002t0004 a0001c0002t0036 a0001c0002t0040 a0001c0004t0006 a0001c0005t0015 a0001c0006t0001 a0001c0006t0026 a0001c0006t0030 a0001c0007t0001 a0001c0007t0002 a0001c0007t0021 a0001c0008t0002 a0001c0008t0037 a0001c0011t0001 a0001c0011t0008 a0001c0013t0002 a0001c0013t0022 a0001c0015t0004 a0001c0015t0044 a0001c0016t0003 a0001c0018t0006 a0001c0020t0032 a0001c0022t0003 a0001c0025t0024 a0001c0025t0051 a0001c0026t0053 a0001c0027t0055 a0001c0027t0056 a0001c0030t0004 a0001c0031t0009 a0001c0034t0004 a0001c0037t0009 a0001c0044t0001 a0001c0046t0002 a0001c0049t0028 a0001c0051t0002 a0001c0054t0023 a0001c0055t0008 a0001c0056t0001 a0001c0057t0002 a0001c0064t0008 a0001c0065t0024 a0002c0009t0001 a0002c0010t0012 a0002c0010t0016 a0002c0023t0019 a0003c0032t0009 a0003c0033t0034 a0007c0036t0015 a0008c0053t0038 a0010c0068t0004	a0001c0001t0001g0052 a0001c0001t0003g0081 a0001c0001t0007g0053 others(57): Show a0001c0001t0001g0052 a0001c0001t0003g0081 a0001c0001t0007g0053 a0001c0001t0017g0102 a0001c0001t0035g0060 a0001c0002t0001g0075 a0001c0002t0004g0099 a0001c0002t0036g0024 a0001c0002t0040g0054 a0001c0004t0006g0065 a0001c0005t0015g0058 a0001c0006t0001g0067 a0001c0006t0026g0002 a0001c0006t0030g0017 a0001c0007t0001g0064 a0001c0007t0002g0073 a0001c0007t0021g0119 a0001c0008t0002g0039 a0001c0008t0037g0018 a0001c0011t0001g0021 a0001c0011t0008g0051 a0001c0013t0002g0007 a0001c0013t0022g0122 a0001c0013t0022g0131 a0001c0015t0004g0032 a0001c0015t0044g0106 a0001c0016t0003g0019 a0001c0018t0006g0084 a0001c0020t0032g0069 a0001c0022t0003g0089 a0001c0025t0024g0139 a0001c0025t0051g0133 a0001c0026t0053g0142 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0030t0004g0022 a0001c0031t0009g0003 a0001c0034t0004g0057 a0001c0037t0009g0059 a0001c0044t0001g0074 a0001c0046t0002g0070 a0001c0049t0028g0103 a0001c0051t0002g0031 a0001c0054t0023g0136 a0001c0055t0008g0066 a0001c0056t0001g0029 a0001c0057t0002g0061 a0001c0064t0008g0011 a0001c0065t0024g0141 a0002c0009t0001g0015 a0002c0009t0001g0016 a0002c0010t0012g0026 a0002c0010t0016g0014 a0002c0023t0019g0113 a0002c0023t0019g0114 a0003c0032t0009g0056 a0003c0033t0034g0038 a0007c0036t0015g0101 a0008c0053t0038g0082 a0010c0068t0004g0105	60	140	0.4286	39	c.163 others(56): Show c.163+5214_163+5215insGTGCTCCCCACATCTCAGACGATGGGCG GCCGGGCAGAG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784948	C C	CCCGGCCG others(32): Show CCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01192.hp2 others(19): Show HG00140.hp2 HG01074.hp1 HG01192.hp2 HG01243.hp1 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02040.hp1 HG02559.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03239.hp2 NA18747.hp1 NA18956.hp2 NA18980.hp2 NA19056.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0012	a0001c0001 a0001c0002 a0001c0021 others(13): Show a0001c0001 a0001c0002 a0001c0021 a0001c0024 a0001c0026 a0001c0028 a0001c0029 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0003c0038 a0004c0014 a0006c0066 a0012c0063	a0001c0001t0002 a0001c0001t0003 a0001c0002t0008 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0008 a0001c0002t0046 a0001c0021t0002 a0001c0024t0010 a0001c0024t0021 a0001c0026t0020 a0001c0028t0001 a0001c0028t0010 a0001c0029t0011 a0001c0029t0049 a0001c0058t0050 a0001c0059t0002 a0001c0060t0002 a0001c0061t0045 a0001c0062t0020 a0003c0038t0009 a0004c0014t0013 a0006c0066t0001 a0012c0063t0001	a0001c0001t0002g0034 a0001c0001t0003g0035 a0001c0002t0008g0036 others(19): Show a0001c0001t0002g0034 a0001c0001t0003g0035 a0001c0002t0008g0036 a0001c0002t0046g0125 a0001c0021t0002g0050 a0001c0024t0010g0126 a0001c0024t0021g0124 a0001c0026t0020g0115 a0001c0028t0001g0023 a0001c0028t0010g0127 a0001c0029t0011g0132 a0001c0029t0049g0123 a0001c0058t0050g0118 a0001c0059t0002g0097 a0001c0060t0002g0076 a0001c0061t0045g0116 a0001c0062t0020g0128 a0003c0038t0009g0025 a0004c0014t0013g0033 a0004c0014t0013g0085 a0006c0066t0001g0062 a0012c0063t0001g0094	22	140	0.1571	39	c.163 others(56): Show c.163+5208_163+5209insACAGAGGTGCTCCCCACATCTCAGACGA TGGGCGGCCGG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546453	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	420	0.0024	39	c.-80 others(48): Show c.-805_-804insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		557		chr9	TogoVar
JAK2_chr9_4980272_5134948	5041577	G G	GTGCGGCG others(32): Show GTGCGGCGCCTGGACTTTGAGAAGCCCGACTGTGACTACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0029 a0001c0018t0029	a0001c0018t0029g0147 a0001c0018t0029g0147	1	358	0.0028	39	c.351 others(56): Show c.351-2801_351-2763dupCCGACTGTGACTACATGCGGCGCCTGGA CTTTGAGAAGC	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG02451.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0081 a0001c0001t0001g0082	2	110	0.0182	39	c.-14 others(60): Show c.-149+40300_-149+40301insATATATATATATATATATATATAT ATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0067 a0001c0003t0067	a0001c0003t0067g0180 a0001c0003t0067g0180	1	109	0.0092	39	c.-14 others(60): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18612.hp2 NA18747.hp1 others(1): Show HG00609.hp2 NA18612.hp2 NA18747.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0001c0008 a0003c0016 a0001c0007 a0001c0008 a0003c0016	a0001c0007t0006 a0001c0008t0001 a0003c0016t0038 a0001c0007t0006 a0001c0008t0001 a0003c0016t0038	a0001c0007t0006g0027 a0001c0008t0001g0150 a0001c0008t0001g0156 others(1): Show a0001c0007t0006g0027 a0001c0008t0001g0150 a0001c0008t0001g0156 a0003c0016t0038g0147	4	112	0.0357	39	c.-14 others(60): Show c.-149+40300_-149+40301insAAAAAAATATATATATATATATAT ATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132140569	A A	ACTTGGAG others(32): Show ACTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGCG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0007 a0007	a0007c0039 a0007c0039	a0007c0039t0002 a0007c0039t0002	a0007c0039t0002g0134 a0007c0039t0002g0134	1	77	0.0130	39	c.147 others(54): Show c.1473+27_1473+28insCGCTTGGAGGAGGTAACGAGGGTCTCCTGC CGGGTCCTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132140569	A A	ACTTGGAG others(32): Show ACTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01069.hp2 others(43): Show HG00423.hp2 HG00544.hp2 HG01069.hp2 HG01243.hp1 HG01346.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18952.hp2 NA18960.hp2 NA18983.hp1 NA18999.hp1 NA19043.hp1 NA19081.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0013 others(9): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0032 a0001c0034 a0001c0040 a0001c0042 a0001c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0036 a0001c0006t0003 a0001c0006t0016 a0001c0006t0024 a0001c0006t0033 a0001c0013t0001 a0001c0013t0015 a0001c0013t0023 a0001c0013t0034 a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0017t0003 a0001c0017t0005 a0001c0017t0029 a0001c0019t0001 a0001c0019t0003 a0001c0019t0014 a0001c0022t0002 a0001c0032t0035 a0001c0034t0001 a0001c0040t0002 a0001c0042t0022 a0001c0048t0012	a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0026 others(43): Show a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0004g0128 a0001c0001t0005g0138 a0001c0001t0006g0006 a0001c0001t0008g0098 a0001c0001t0008g0143 a0001c0001t0020g0120 a0001c0001t0036g0014 a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0151 a0001c0006t0016g0147 a0001c0006t0024g0155 a0001c0006t0033g0057 a0001c0013t0001g0094 a0001c0013t0001g0130 a0001c0013t0015g0148 a0001c0013t0023g0078 a0001c0013t0034g0005 a0001c0015t0001g0017 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0005g0141 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0017t0005g0079 a0001c0017t0029g0012 a0001c0019t0001g0154 a0001c0019t0003g0081 a0001c0019t0014g0085 a0001c0022t0002g0061 a0001c0022t0002g0080 a0001c0032t0035g0125 a0001c0034t0001g0021 a0001c0040t0002g0029 a0001c0042t0022g0127 a0001c0048t0012g0100	46	122	0.3770	39	c.147 others(55): Show c.1473+74_1473+112dupAGGAGGTAACGAGGGTCTCCTGCCGGGTC CTGGGCTTGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15469352	T T	TCCTCCCC others(32): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0036 a0001c0003t0003g0036	1	263	0.0038	39	c.670 others(54): Show c.670+635_670+636insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(32): Show TCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01515.hp1 HG01928.hp1 others(1): Show HG01496.hp2 HG01515.hp1 HG01928.hp1 HG01981.hp1	a0001 a0001	a0001c0007 a0001c0011 a0001c0007 a0001c0011	a0001c0007t0002 a0001c0007t0018 a0001c0011t0010 a0001c0007t0002 a0001c0007t0018 a0001c0011t0010	a0001c0007t0002g0015 a0001c0007t0002g0017 a0001c0007t0018g0016 others(1): Show a0001c0007t0002g0015 a0001c0007t0002g0017 a0001c0007t0018g0016 a0001c0011t0010g0022	4	187	0.0214	39	c.670 others(54): Show c.670+637_670+638insCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(32): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02040.hp2 others(7): Show HG01099.hp1 HG01891.hp1 HG02040.hp2 HG02135.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02922.hp2 NA18945.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0001c0020	a0001c0001t0015 a0001c0002t0001 a0001c0002t0007 others(5): Show a0001c0001t0015 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0044 a0001c0014t0002 a0001c0020t0010	a0001c0001t0015g0145 a0001c0001t0015g0238 a0001c0002t0001g0166 others(7): Show a0001c0001t0015g0145 a0001c0001t0015g0238 a0001c0002t0001g0166 a0001c0002t0007g0196 a0001c0002t0008g0168 a0001c0002t0008g0273 a0001c0002t0012g0207 a0001c0002t0044g0150 a0001c0014t0002g0208 a0001c0020t0010g0075	10	193	0.0518	39	c.670 others(54): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JMJD1C_chr10_63162225_63470977	63277731	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	68	0.0147	39	c.334 others(58): Show c.334-12968_334-12967insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	93	0.0108	39	c.65- others(54): Show c.65-1325_65-1324insATATATATATATATATATATATATATATAT TTTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19006.hp1 HG01081.hp2 NA19006.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0002 a0001c0001t0002 a0004c0006t0002	a0001c0001t0002g0005 a0004c0006t0002g0002 a0001c0001t0002g0005 a0004c0006t0002g0002	2	94	0.0213	39	c.65- others(54): Show c.65-1325_65-1324insATATATATATATATATATATATATATTTTT TTTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	93	0.0108	39	c.65- others(54): Show c.65-1325_65-1324insATATATATATATATATATATTTTTTTTTTT TTTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JPH2_chr20_44101590_44192188	44134628	T T	TTATTATA others(32): Show TTATTATAAATATATATTTATTATAAATATAATAAATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18978.hp2 NA18984.hp2 others(1): Show HG00408.hp1 NA18978.hp2 NA18984.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 others(1): Show a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0012g0148	4	333	0.0120	39	c.117 others(60): Show c.1170-16006_1170-16005insTATATTTATTATATTTATAATAAA TATATATTTATAATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87620447	A A	AGAGAGAA others(32): Show AGAGAGAAGGAGAGAGAGGGAGAGAAGGAGAGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18981.hp1 HG00544.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0001 a0001c0001t0004 a0001c0007t0001	a0001c0001t0004g0185 a0001c0007t0001g0291 a0001c0001t0004g0185 a0001c0007t0001g0291	2	372	0.0054	39	c.382 others(58): Show c.382+16950_382+16951insGAGAGAGGGAGAGAAGGAGAGAGAGG GAGAGAAGGAGAG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0002 a0002c0057t0002	a0002c0057t0002g0015 a0002c0057t0002g0015	1	31	0.0323	39	c.456 others(54): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	71	0.0141	39	c.37 others(50): Show c.3761_*3762insAAATATATATATATATATATATATATATATATAT ATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20062104	A A	ATATATAT others(32): Show ATATATATTATATATAAAACATATTATATATAAAACATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	293	0.0034	39	c.304 others(58): Show c.304-10216_304-10215insTAAAACATATTATATATAAAACATAT TATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results